BIOINFORMATICA

STARD3

Grupa # ___
Numele studentului
..........

Chisinau, 2019
Tabel I. Rezultatele căutării informaţiilor pe portalul NCBI
Database category Database name Database description Number of records
Literature MeSH ontology used for 4
PubMed indexing
Literature PubMed Scientific and medical 107
abstracts/citations
Literature PubMed Central Full-text journal 465
articles
Genes Gene Collected information 665
about gene loci
Genes GEO Profiles Gene expression and 6816
molecular abundance
Genes HomoloGene Homologous gene sets 2
for selected organisms
Genes PopSet Sequence sets from 1
phylogenetic and
population studies
Proteins Conserved Domains Conserved protein 4
domains
Proteins Identical Protein 246
Groups
Proteins Protein Protein sequences 1442
Proteins Sparcle 28
Proteins Structure Experimentally- 2
determined
biomolecular
structures
Genomes Genome Genome sequencing 78
projects by organism
Genomes Nucleotide DNA and RNA 2511
sequences
Genomes Probe Sequence-based 499
probes and primers
Genetics ClinVar Human variations of 38
clinical significance
Genetics dbSNP Short genetic 7145
variations
Genetics dbVar Genome structural 226
variation studies
Genetics GTR Genetic testing 3
registry
Genetics OMIM Online mendelian 5
inheritance in man
Chemicals BioSystems Molecular pathways 141
with links to genes,
proteins and
chemicals
Chemicals PubChem BioAssay Bioactivity screening 14
studies
Chemicals PubChem Substance Deposited substance 155
and chemical
 information

Lista de referinţe selecatte de pe PubMed Central:

1: Genomic alterations in gastric cancers discovered via whole-exome sequencing
Jie Zhang, Weiqing Qiu, Hua Liu, Changlin Qian, Dujuan Liu, Hailong Wang, Ni Hu, Y. Tom
Tang, Jianhua Sun, Zhiyong Shen
BMC Cancer. 2018; 18: 1270. Published online 2018 Dec 19. doi: 10.1186/s12885-018-5097-8
PMCID: PMC6299976

2: Clinical Implication and the Hereditary Factors of NM23 in Hepatocellular Carcinoma Based
on Bioinformatics Analysis and Genome–Wide Association Study
Chengkun Yang, Chuangye Han, Xiangkun Wang, Xiwen Liao, Xiaoguang Liu, Wei Qin, Long
Yu, Guangzhi Zhu, Hao Su, Sicong Lu, Zhiwei Chen, Tingdong Yu, Zhen Liu, Ketuan Huang,
Zhengtao Liu, Yu Liang, Jianlu Huang, Tao Peng
J Oncol. 2018; 2018: 6594169. Published online 2018 Dec 18. doi: 10.1155/2018/6594169
PMCID: PMC6312618

3: RhoGAP domain-containing fusions and PPAPDC1A fusions are recurrent and prognostic in
diffuse gastric cancer
Hanna Yang, Dongwan Hong, Soo Young Cho, Young Soo Park, Woo Ri Ko, Ju Hee Kim, Hoon
Hur, Jongkeun Lee, Su-Jin Kim, Sun Young Kwon, Jae-Hyuk Lee, Do Youn Park, Kyu Sang
Song, Heekyung Chang, Min-Hee Ryu, Kye Soo Cho, Jeong Won Kang, Myeong-Cherl Kook,
Nina Thiessen, An He, Andy Mungall, Sang-Uk Han, Hark Kyun Kim
Nat Commun. 2018; 9: 4439. Published online 2018 Oct 25. doi: 10.1038/s41467-018-06747-4
PMCID: PMC6202325

4: Sterol Metabolism and Transport in Atherosclerosis and Cancer

Yoshio Yamauchi, Maximillian A. Rogers
Front Endocrinol (Lausanne) 2018; 9: 509. Published online 2018 Sep 19.
doi: 10.3389/fendo.2018.00509
PMCID: PMC6157400

5: Regulation of Sphingolipid Metabolism by MicroRNAs: A Potential Approach to Alleviate

Atherosclerosis
Zainab Jahangir, Ahmed Bakillah, Jahangir Iqbal
Diseases. 2018 Sep; 6(3): 82. Published online 2018 Sep 17. doi: 10.3390/diseases6030082
PMCID: PMC6163692

6: Intracellular and Plasma Membrane Events in Cholesterol Transport and Homeostasis

Dmitry Y. Litvinov, Eugeny V. Savushkin, Alexander D. Dergunov
J Lipids. 2018; 2018: 3965054. Published online 2018 Aug 6. doi: 10.1155/2018/3965054
PMCID: PMC6106919

7: Integrating Genes Affecting Coronary Artery Disease in Functional Networks by Multi-

OMICs Approach
Baiba Vilne, Heribert Schunkert
Front Cardiovasc Med. 2018; 5: 89. Published online 2018 Jul 17.
doi: 10.3389/fcvm.2018.00089
PMCID: PMC6056735

8: Lipid transfer proteins rectify inter-organelle flux and accurately deliver lipids at membrane
contact sites
Kentaro Hanada
J Lipid Res. 2018 Aug; 59(8): 1341–1366. Published online 2018 Jun 8.
doi: 10.1194/jlr.R085324Correction in: J Lipid Res. 2018 Oct; 59(10): 2034.
PMCID: PMC6071762

9: Annexins—Coordinators of Cholesterol Homeostasis in Endocytic Pathways

Carles Rentero, Patricia Blanco-Muñoz, Elsa Meneses-Salas, Thomas Grewal, Carlos Enrich
Int J Mol Sci. 2018 May; 19(5): 1444. Published online 2018 May 12.
doi: 10.3390/ijms19051444
PMCID: PMC5983649

10: The Rab11-binding protein RELCH/KIAA1468 controls intracellular cholesterol distribution

Tomoaki Sobajima, Shin-ichiro Yoshimura, Tomomi Maeda, Haruhiko Miyata, Eiji Miyoshi,
Akihiro Harada
J Cell Biol. 2018 May 7; 217(5): 1777–1796. doi: 10.1083/jcb.201709123
PMCID: PMC5940305

Analiza sursei OMIM

611801 POST-GPI ATTACHMENT TO PROTEINS 3; PGAP3
Gene-Phenotype Relationships
Location Phenotypes Phenotype MIM Inheritance Phenotype
number mapping key
17q12 Hyperphosphatasia 615716 AR 3
with mental
retardation
syndrome 4

Allelic variants
Numbe Phenotype Mutation SNP gnomAD ClinVar
r
.0001 Hyperphosphatas PGAP3,GLY92A rs58777725 - RCV000111462
ia with mental SP 1
retardation
syndrome 4
.0002 Hyperphosphatas PGAP3, 1-BD rs86931281 rs86931281 RCV000210253
ia with mental DUP, 439C 5 5
retardation
syndrome 4
.0003 Hyperphosphatas PGAP3, rs58777725 rs58777725 RCV000111464
ia with mental ASP305GLY 2 2 …
retardation
syndrome 4
.0004 Hyperphosphatas PGAP3, rs37154994 rs37154994 RCV000111465
ia with mental PRO105ARG 8 8
retardation
syndrome 4

Clinical Synopsis

Analiza sursei ClinVar

Variation Gene(s) Protei Condition( Clinical Review Accession

location n s) Significan status
chang ce
e (Last
reviewed)
GRCh37/hg19 ERBB2, Not Benign No VCV0006028
17q12(chr17:373874 NEUROD provided (Dec 28, assertio 74
13-373879941)x3 2, PNMT, 2010) n
GRCh37: MED1, criteria
Chr17:37387413- TCAP, provide
37879941 STARD3, d
CDK12,
PPP1R1B,
FBXL20,
PGAP3
Analiza sursei Gene
This gene encodes a glycosylphosphatidylinositol (GPI)-specific phospholipase that primarily
localizes to the Golgi apparatus. This ubiquitously expressed gene is predicted to encode a
seven-transmembrane protein that removes unsaturated fatty acids from the sn-2 position of GPI.
The remodeling of the constituent fatty acids on GPI is thought to be important for the proper
association between GPI-anchored proteins and lipid rafts. The tethering of proteins to plasma
membranes via posttranslational GPI-anchoring is thought to play a role in protein sorting and
trafficking. Mutations in this gene cause an autosomal recessive form of neurologic
hyperphosphatasia with cognitive disability (HPMRS4). Alternative splicing results in multiple
transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]
>NG_034125.1:5014-21949 Homo sapiens post-GPI attachment to proteins phospholipase 3
(PGAP3), RefSeqGene on chromosome 17
ATACTCCTAAGCTCCTCCCCCGGCGGCGAGCCAGGGAGAAAGGATGGCCGGCCTGG
CGGCGCGGTTGGTC
CTGCTAGCTGGGGCAGCGGCGCTGGCGAGCGGCTCCCAGGGCGACCGTGAGCCGGT
GTACCGCGACTGCG
TACTGCAGTGCGAAGAGCAGAACTGCTCTGGGGGCGCTCTGAATCACTTCCGCTCCC
GCCAGCCAATCTA
CATGAGTCTAGCAGGTAAGCCCCACCCCCACGGTAAGCCCCGCCCATTTGTCTTGCT
CCCGCCCCCTGCG
CCCCCAATACGCCTCTGCAATCCCTGAACCTTAGTTTCCCCACGAGGTCTCTTATGA
ATGTGAGTGAAGC
CCCTAAGGTGATGAGAGCCTTACCAGCCTCTCTTACTTTCCCAGAAGCTTTCATTTAC
TTATTTGTTCAG
TCAAAAGGGTATTTATTAAATACATTCGGGCCACAATGTCTAGGAATGGCACAGAA
ATCAGACCAGGGTC
CCGCCCATTGGGACTCACAGTCCCCACGGGGACATGAGCCTTTTCAAGTGCAAGGC
AGAGAATGATTTGA
GCCCCTGAAAGACTCTTTGATTAGGAAGCATTTGGGATAGGAAGGTGTCAGTTCCGG
CTTTGAAGACGTG
GGGGCAGGGATCATCTTGGAACGTTTTGTTTGAAGGAGGGACTTTGGACTGGTACAT
TCGATTTGGACCA
TAGTGGGCAAAGAACCAACGTATTGAGCACTCACTGTGTGACAGGTGTCACAATAT
GTCAAGTAATTTTT
ATCACACCCTTTGAGATAGTTTCTCTAATCCCAGTTTTACAGATGGGGATTAGAGAG
ATTAAATGCCCTG
CCCAAGGTCACACAGCCAGTATGTAGTAAAGTGGAGTTTCCAGTTCTGGCCTGTTTG
ACCACAAGCTTGT
CCTCTTTACTATTATACCACTTTGCATTCCAGACAGAGGGAACAGAGAGAATGGATG
CCCTGGGCAGATG
TGGGCACATCCAGGAGCTTTATTTACTCAGGGAGCAGGGTACATGAACAGGAGTAG
TGACCAATACGGTT
GGAAAGGCAATTTGGAGCCTCAAAAGTCAGGTTGAAGAATTTGGGCTTCATTTTCAT
AGGAAGGGAGTAA
GATAGCAAGAACTCCTTCCAGGAGAGTAAGAGCAAATCCTATATTCAGGAAGGACA
AATATAAACCCAGG
TTTCCATAGATGAGTTCATCAGATGCCAACATCTTGATGGACTTGAGCAAAAGGAGA
GGAAATGTCTGCC
AAGGTAGAAAGATCATCTGAGCCCTGGAGTTCAAGACTAGCCTAGGCAACATGACA
AGATGCCTTCTCTA
CAAAAAATAAAAGAATTAGCCAGACATTGTGGTCTCGCTACTTGGGAGGCTGAGGT
GGGAGGATCGTTTG
AGCCCAGGAGGTCAAGGCTGTGGTGAGCCATGCTCTCCCCACTGCACTCCAGCCTGG
ATGAAAGAGCGAG
ACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAATGCCGGGTGCGGTGGCTCGTGCCT
GCAATCCCCGCACT
TTAGGTGGCAGAGGCAGGCAGATAACCTGAGGTTGGGAGTTCAAGACCACCCTGAC
CAACATGGAGAAAC
CCCATCTCTACTAAAAATACAAAATTAGTTGGGTGTGGTGGTGCATGCCTGTAATCC
CAGCTACTCGGGA
GCCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAACCGAG
ATCGCACCATTGCAC
TCCAGCCTGGGCAACAAAAACAAAACTGTCTCAAAAAAACAAACAAAAAAAAGAC
GAATATCTCTAATTG
CTCACTAAAATATGCATACATACGTACATACACCTTCCCCTATGTGTACATCTCATC
ATCTCTCATTCAT
TCAAAGGGGAAGCTAGAATTTTGAGATTTCTCCTGGTTCTCTCCAACTTACAGGCCC
TCTTGGCCTACAT
TTGCGCTTGGACCCCATTCATGCTCTCTCTTTCCTCTCTGTGCTGGGGAGTTCACCAG
GCCACATTTGTC
TGTTTCAGGCTGGACCTGTCGGGACGACTGTAAGTATGAGTGTATGTGGGTCACCGT
TGGGCTCTACCTC
CAGGAAGGTCACAAAGTGCCTCAGTTCCATGGCAAGGTGAGTTGGAGGGTCAGGGT
AGGCATATGGTAGT
AGCGTGGTAGGAGTAATATACCCCCTGGTTGGACCACACTGTCCAAGCAGTCTGAG
GCATGGGGTAATGC
GTGTGTGTTTGGGGCAGCTACCTGTTCTCCCCAAAATCTGCTGGTTTCCATAGAATTG
GATAGGACCCAT
GTGTCCTGCCTCTGGATTTGGAGTAGCAATATCTGGAAGGCTTTGGAGTCTCCCCAG
AGAGTGGTGCTGG
GCCTCTTAGAGTGGTTGAGATGCCCACCTTACTGCAGGGACAAATTCCCTTACCTAC
TGTGGCTTGTTTC
CTGTTGCTTCTCCAGTAGGGGTCTGGATTCACAGTAATATGCTTCAGCTTGTCTAGCG
AGGCACAGTTTG
CTGGTACCTTTCTTTCTTTTGTTTTTTGTTTTTTGTTTTTTTTTTTGAGATGGAGTCTCC
CTCTGTCGCC
CAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTC
AAGCAATTCTCAT
GCCTGAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTGCCACCACACCCAGCTAATT
TTTTGTATTTTTT
TTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATC
TCCTGACCTTGT
GACCCTCTCGCCTCAGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC
TGGCCTGCTGGTA
CGTTTCAATCCAGTATTATCTCATTCTGGCCTGTTGAGGTTGGCAGGAAGTATTCACC
CCAGTTTTTCAC
AGAGTAAGCTGAGGCTCAAAGGACCGTGGTCAGTGGTAGAGGAGGGGTTGGGACCT
GTGTCTTCTGGATG
GCAACTCTGTGCTGTTTCCACCAGGCCATACTGAGTCATCTACCCTGACCCATCTGG
TCTTCCCAGAGAT
CAGGGCTTACAGTGCTGTGCCTGCTGGCCAGGATGGGGGTATAACTCTTAACTAGGC
ACTGGAGGGTGGC
TCATTAGTCTGAAGAGGTACTGAACCTGAGGCTTTGGCCAAACTCCAGAGCTGAGG
ACTCAGCTGAGGAC
CTGTTGCTTCAGCATGTCAAGAATAGGTGGACTGGGCCAGTTGAGGGTTGCCTGCCC
TTCAAACCTCCTT
CATCTGCTCCTTTTTCAGTGGCCCTTCTCCCGGTTCCTGTTCTTTCAAGAGCCGGCAT
CGGCCGTGGCCT
CGTTTCTCAATGGCCTGGCCAGCCTGGTGATGCTCTGCCGCTACCGCACCTTCGTGC
CAGCCTCCTCCCC
CATGTACCACACCTGTGTGGCCTTCGCCTGGGTAGGTAACCTAGCAGGACTCCTGCT
GTCTCCTCTTATC
TAGGAAGGTGGAGCTCTACATCCCTATTAACACCCAACAGGGCTTCTACTTACCAGC
TTCCCCTCTGTTT
CCCAGGGCTAAAGTTGCAGCTGCAGGGTGGTAAAGCCTGGGGAGAAAACAGGGAG
GGTGCTGAATCGGGC
CTTACCTTTCCAGCAGAGCCCTAGGTCAGGCTGTTTGGGAAGGAGAGAGGAAAGAA
GGGCATTTTTCTTG
TCCTGAAGAAGGAAGCCACTAAAAGACCCAGTAGGACAGTTTACAAACACAGAGG
GGAGATGGGGGGCTA
AAGAGGATGCTGGGACCACAGGTCTTTCCAAGGGCCCTTCTGGAGGACTTGGAGCA
ATCTCAATTCCAGC
CCAGGCCTGGTGGGGAGTCACAGCCATAGTCTCTGTGTAGAGCTCAGCCTAGTCTTT
TTTTTTTTTTTTT
TTTTTTTTTTTTTGAGACAGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAAATGGCG
CAATCTTGGCTC
ACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAG
CTGGGATGATAGG
CGCGTGCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAT
GTTGGTCAGGCTG
GTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCAGGGA
TTACAGTTGTGAG
TCACTGCACCTGGCGAGCTCAGCCTAGGCTTAGACCATCCCTGGAGAAGCCCAGGT
ATGGTTACATCTGC
AGGTGCAGAAAGGGCTGTCAGCTTCACAGTACGGCTGGTCTAAAGAGCTGTATTCA
GGGCCTGGTATTGT
GTGATAAGCACAGACTGGGGTGCAGATATGGACCGTGACGGCCTTGGGAAGGGTGT
GAGAATGAAAGGTT
GCAACGGATGTCTCTAGGTCGGAGCTGCCCCTGTAAGCCTTAAGGAAAAAATTTCCA
TTCACTCACCTTC
CTGCTCTCACAGAAGCCATTCACTCAGGTGTTGAGCACCTACTATATGCCAGGCACT
TTGCTGGAGATCC
AGAAGTCTGCCCTCTGGTGCTAATCATACAATTGAATGTAAGAGTACAACTATGAAA
AAGTGCAGTCGGG
GAGAGGTGCTTCAGGGGTGTGTGTAAAGGCAGACCAAGACCAGCATGGGGCCATCA
GGGAAGGCTTCCCT
GGGGAAGGGGCATTAAAGGTAAGGTGGGAAGGATGCATGAATGTTAACTAGGTAA
ATTTGAGAAGAGTAA
GGGAAGGCTTCTAAAGAGAAGTCTCAGAAAGTGCCCAGGTGGGAGAGAGGGAGGG
TCATTCCAGGCAGCC
TGACATGCAGGAAATCAGAGAGTGGGTGTGAGCTGGGCGGACTGATGGGTGGTGGA
TGGGGCCAGCCATG
GAGAGCCTCACATTGGAGATCTTGACTCTCAAAGCATCAGGAAGTACGGAGGGATT
TTATTTTATTTTAT
TTTATTTTATTTGAGACAAAGTCTCACTCTGTTGCCCCAGCTGGAGTGCAGTGGCGCT
ATCTTGGCTCGC
TGCAACCTCTGCCTCCCAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTG
GGACTACAGGCAT
GTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTT
GGCCAGGCTGGT
CTTGAACTCCTGACCTCGTGATCCGCCCACCTCACCCTCCCAAAGTGCTGGGATTAC
AGGCATCAGCCAC
CGTGCTCGGCCTACGGAGGGATTTTAAATGAGGGTTGAGGAGAAAAGTTGTTTCAT
GAATAGATTTGCCC
TTTGGAAAGCTCATTCTGGCTACTGTGTAGAGAACAGATTGAAGGGGGCGGGAGTG
GATGCAGTAGACCA
GTTGGTAGTTTTAGCACAGGGCCCAGTAGCTAGACTAGAGAGGTGGCATGGGTCTT
GGGCATTGAAGAGA
AGTACACTTGAGCTGTGTTTTGGAGGTAACATTAAAGCTTTTTAAAAATTTATTTCCT
TAACAAATACAT
ACATAGCTCATACTGTATGCCAGGCATCACTCTAAGCATTTTATAAGTATTAAGCTT
GTTCATCCATAAC
AAGTGGCAAAAGACAAATTACAGCAAACTTACTTATAGAGCCAATTGGCTTTAATTT
GTGATTCATGAAT
TGGTGCAGCCTCCGTTCTACAAAATAGAATGCAAGTTTCCATTGGGCAATAGCAGAA
CAGTGGGTTTTGT
AAGGTGGGAACCAGGAAACAGAACAATAGAAAGAAACCTGATTGGTTAACATCAG
ATTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGC
AGTGGCGCCAT
CTTGGCCCACTGCAAGCTCTGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC
CAAGTAGCTGGG
ACTACAGGCGCCCACCACCACACCTGGCTAATTTTTTGTGTGTGTATTTTTAGTAGA
GATGGGGTTTCAC
CATGTTAGCCAGGATAGTCTCGATCTCCTGATCTCGTGATCCGCCTGCCTCGGCCTCC
CAAAGTGCTGAG
ATTACAGGCATGAGCCACTGCGCCCGGCCCACATCAGGTTTTTTTTTATAAGGGTTA
AAGCAGAGGAGAC
TTCCTTACTTGGGTAGACTGGACTCTCCTGTTTTCAGGAAAAAGTGGTCTGTTTTGGG
ACCTATCAGTTA
CCTTAAAGTTTCAGTTTGAAGATCAAGTGCGGTGGCTCAGGCGTGTAATCCCAGCAC
TTTGGGAGGCCAA
GGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGAAGAA
ACCCTGTCTCTACT
AAAAATACAAAATTAGCTGGGCATAGTGTTGCATGCCTTTAGTACCAGATACTTGGG
AGGCTGAGGCAGG
AAAATCACTTGAACCCGGAAGGCGGAGGTTGCGGTGAGCTGAGATCACGCCATTGC
ACTCCCGCCTGGGC
AACAACAGTGAAACTCCGTCTCAGAAAAAAAAAAAGTTTCAGTTTGATTATGTGGC
ATTTAGCATGAGTG
ACTTCATTTTTGTCTGGTCTCTTGGGTCTAGTGCGGGGGCTCAATCCAGAACAATGG
CCTCCCGTAATTT
TTGTTTAACGCAGCTTATAGGTATTATTATTCTCATCCCCAGTTTATAGATGAGGAAA
CCAAGGACTGAA
AAGGTTAAGTCCAGCCACAGATCACCGAGCCAGGGTTTGAATTCAGGCATCTGGCT
CCAGAGTCCACACT
TTCAACATCTTGGCTATGCTGATAAACTTCAAGAGTGGATTAGATGAGGAAAGAGC
AGTAAGGGATGACC
CCTTGTGTTTCTGCTTATAAGACAGTGATGGAGGCCGGGCGCAGTGGCTCACACCTG
CGGTTCCAGCACT
TTGGAAGGCTGAAGTGGGCGGATTGCTTGAGCTCACAAGTTCCAGACCACCCTGGG
CAACATGGTGAAAC
CCCGTCTCTACCAAAAATACAAAAAAAATAAGCCAGGCCTGGTGGCACATGCCCGT
AGTCCCAGCTAGTA
GGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTG
TGATCCTGTCACTG
TACTCTTGTTGCTCTAGCCCGGGTGACAAAGGGTGACCTGTCTTTAAAAAAAAAAAA
GACAGTGATAGAA
GCTGTGGGTGTGGATGAGATCACCCCAGGAGAGCCTAGTGAAAAGAGAAGGGATCT
AGGGCAAAGCCCTG
GGGAACCCCAAAATGTAATGGCTGGCTAAAGGAAGATGAGCCAGACACAGAGACA
GAAGGAGTAGCCGGA
GGGGCAGGTGGAGAACTGGGAGATAGTGTGCTTGGATTGTGCTTCCCGGGATGAGC
ACAGGAAGGAGAGA
GGCTTCTGCTGTCCTGAATTGTACACGTGAGAACTGAAGGAGACCCCGGAATCTGG
AGACACAGAGGTCT
CTAGGGCCTTAGAAAAGCTGATAGATGGGGCGTGCTGCGAAGTCCAGGCCGAGCCT
TAGACTTGGGAGGT
GGGCGTGGGAAGGAGGTCAGGGAAGGAGGCTGTTAAACCTCTGGGAAATATGGAC
CCTCCTTAATACTTC
CTATTCAACAACTATTAATAACAGTTGTGATAAATTAAGGAACAGGAGCCATGTGA
CAGGCTTGTCTGAA
GCACTTTACATACATTTCCTTATTTCATCCTCATAGTACCCTTATGAGCTCTGAGTTA
GATTCAGAGGGG
AAAAAAACTTGCCCAAAATGCACAGCTAACAAGTTAGCAAGGAATAAAGACAGGG
TTGGTGTCCAGGGCT
GTCTGGCTCCAGGGCCTGAGAACTTAGCTCTTCTTCTAGGCCACTCCGTGTCCTGTG
ATGAGTGTCCATT
GAGCATTTGCTGGGGGTGGAGACAGGGTTTAGCACTTGTGGAGGCTGAATCCCCTG
CCCCAGGGAGCTAA
GCATAGTGGGAGGTGCAGTTCTGGGCAGCCTGGGCAGCAGACGGCAGGCAGAGTCA
AGGGGTGCTCCGGT
AGAGAGCCCTGGGAGTCGTGAGGTGGGGAGACCGCGTCCTCTAACTGGGGAAGTCT
GCCAGGCCAGGGAA
GCCCGGGGAGGAGGAGAGGTTTAATCTGGGACTTAGACACATACATGTGTGGGGCA
AGGCTTAGACACAT
ACATGTGTGGGGACAGGGGATTGAATTCCAGCATTCCAGGAAACCTTGGCCCCATT
GTAGCTGTGTGAAT
AGGAGTAGAAGAGTAGATGGAGCAGAGAGGCCCCTGAGTGCCAGGCTGAGGGCTA
GGGGCTCTGATGTAG
GCAGGGCCTGGCATCGGCACACACTGTCACAGGCTGGGTGAGATAAAGCCACCACT
TCCTGTGTAGGCCT
CTTGGAGCGAAGCAAATTTAGTCCTGGCTAAGAAAGCAGGAAGGGCAGGGAAGCTG
AGGACGTTACACCT
GTCTGCTTTCCTTTGGGGTTCTTCCACGGACACTGCTTGTCTGGGCCCACAGCGTGTA
CCACCCACTTGT
CCCCACCTCTACTAGAGAGCATGGGACAGCCCTGCCTGAACTCTGAAGAAGCTTAG
AGCCTTCTTAGATC
GGAGGGTCCCACCCCTTGTCTTTATAACATGTGCCAGAGGCCAGGGGTCACTTCACA
GATCTGGTCTTGT
CATCCCTGATTCTTGGATTTTTCACCTCAATGGTATCTGCAACTCAGCTTCCTTCTTG
GAGAGGGGGGTC
ACACTTCCCCAGGGTAGCCTGCAGTCCAGTGTGACTAAGGACCCTAGAGAAAAAGC
AGCAGATGGCCGGG
CATGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCAT
CTGAGGTCAGGAG
TTAAGACCAGGCTGGCCAACATGGTGAAACCCCGTCTCTACTAAGAATACAAAAAT
TAGTCAGGCGTGGT
GATGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAATTGCTTGAACCTGGGAGG
CAGAGGTTGCAGTG
AGCCAAGGTGGCGCCACTGCACTCCAGCCTGGGTGACTGGGCGAGACTCCATCTCA
AAAAAAACAAAAAC
AAAAACAGAAAAAGCAGGAGATGTTAGATGTTGGGGTGGTAGAAGGCAGATAGTT
GGGCCCTGTGTGTCT
TATGGGATGTGGGGTTCTGGGACATGGGACCCCCTCATGCTCTCACTAGGCCTTCAA
GAAACAAAGCCTC
AGAACCCACACTCCTGTGGATGGCCTAGTTTGGCTTTCCCAGTTGCTCTTGGGCTTCC
CAGTTGCCCTGT
GAGTTTCTGCAGGAGGGAGGGATCCTGAGCTGTATGGAGGGTGCGGCAGTGGACTT
TGACCTGGGCCTTC
TGGGGCACTGAGGCTCCTGATTTCTGTTGGGGTGAGGATAGGAAGGCAAGGTCCCT
CACCCGCTCCGGGC
TAAGTCTTGGGGGAAGGGTACCTCAGCTTTGCCTCTGGGAAATGAGGAGACCCCGC
CCTCCAGCAGGACT
CATGATAACGCTGGCACAAGAAGGCAGCCCTTGCCTTGCCATTTAGGCCTGGGCTTG
GGCTGGGGAGCAG
CCAGGCGGCGGGTGGGGAGCCTACCAAAGCTCCGCATACCATGTCTCTTTGACTTCA
CGGAGTAGGGGCC
CCTGCTGTGTGCCAAAGCCAGAAGGCCAAACCAATTCCCCAGGCCTTCATCCAGTCA
GGAAAGGTCCTCA
GGTGTAGAGAGGAGGGTGAAGTGGTGGGAAGCCCAAACCATCTCTGTAGAGTGGTT
TGTGTAGGTGGGGA
CTGATTCTTCTCTTCCTCTGTTAAGCAAACTACAAGAAGAGGTAGGTTGCAGCTGTA
GTAGAATGATGGT
TAGACTTCAGGAAGGACTTCCCATGGTCAGACAAGAGCTAGTGGAACAGGCAATGG
CAGGAAATCAAGGG
ATCCTCTGGGATCTTGGAAAAAGCCCTCCTTCTCCCATCCGCATCCACCTCTGTCTCC
CTTCTCTCAGGA
GTGAGCTGGGGCTGGCCTGCCCTGCCTGAGGCAGGGGGTGAGACACTGTGGCCTCC
AGAGGAGCCCAGGA
TGGCAGCAGGCATCATATTTAACATTCTGCCTCCCCCACTTCTGAGACACTGAGCTA
TTTTAAGCCCCAC
TTGTCCCCACCGCCATGGTGTCAATGACAGCCCCGAGCACTGGGGCTTAGCGCCGGG
TCGAATTCCTGAC
AGATCTGGCTCACTTGGCATCCAACCAGTTTCACGGCTGTGATATTTTTGTCTCGATT
TTCTTATTTCCA
ACAGACTGAAACAGCCTCTTGCTCTCCCTCCACCCAGTCTCCTATTCCACCCCCACTG
GCACCCTGCCCC
TGGCCACCCCCTCTCCTCAGTGTTTACGCAAAGCTCTGGGTGCCTGCTGGGCAGCCT
GTCGCCCTCCTGG
CCAGTTCCCCTCCCTGCCCCCCTTCACTTGAGCGTGGCAAGGAGTCCGAGAGTAGCC
GTGCCTTGGCATC
TTGGAACTCTCCTTCCTTCCAGAGCCCATCTTTCCCCTTTGCTTGCTCTTGATGACAA
ACTCTGAGTGAG
GAGAAATGGATCTGTTCGGTTCACATTGATGGGAACATGGCTCCAGAGGAAGGAGG
AGGGGCTCTTCCTA
TAGCTGAGGTGTCTCCGTTCTGGAATGGAGAGACCCTGAGGCCCCATAGTTTGACCT
CAAACTTTGTGAC
CCTTGCGGAAAGGGAAGTTGAGGGGCAGGTGAACGGGCGTGGTGAGAGTCAGTCTA
CTGGACCTGATGAA
GGAAACTGACATTGATGGGCACCTACTATGGACCAGGCAGCAAAACCAGCAGCCAT
TCAGAGGAGTTCCT
TGGTGCCAGGCATTCCGCAGACCTCGTCCTCATGGCCTCCTGTGCAGTGAGCATCAT
TATGAACCTGTTT
TGTAGGTGAGGCAGTGGAGGCTCACACATACTGGGTTATGTGTCCAAGGTCACACA
GCTGCGTAGGGGCT
GAGGCAGGACTTGAATGCAGACTCTGTCTCATTGTGAAGACTGGACACTCTTCCCCC
AGCCTGGAGCTGT
GGAGGTGGGCCTAGGCAGCTAGGAGACCACCCCTTATCTGCCTAAACATCCTTGGCC
TGCAGGGAGAGTG
GGAGGCAGACATCCTCTTAGGCCTCAGTTCTATGGGAAGCTGACGGGGTTCTGTGCT
GGTCAGGCAAGTG
GAGAGAACACTCATGTTTCAGCCTGTCCTGGGCTCTGTGCTGTACGCTGTATTTGTAT
TGCTCATTAAAC
CCTTATCAACTATGATTATTCCCATTTTGCAGATGAGAAAACTGAGGCACAGCAAGG
CTAAATAACTTGC
CCAAGGACACACAGGAAATGCAGAGCCAGGAACTGAACCCTGGCAGTCTGGCTGTA
GGGCTTGCATTCTT
AATGATACCACTACCTCCCAAATCTGAGGAAAGGGTGAGAAGAGGAGCACCCCCAG
AGTGGGATGCTCCC
CAGGGGGGAGGGGCTTTTCAGGGGTGCAGAGGCCAGGCTTCAGGTGGGTCTCTGTG
AGTGGAAGGCACCC
AGGGAGGCGGTTGGAGAGGGGACCCAGCAGCCCCACCCATCCTGTGGCCCTACGCA
TATGTTTGCCCGCA
CACACACCCCCTGCTTTCGGTGTTCTGAGCCACTTAGCTCAGTCCTGCAGTCCTCTTC
TCACCTCCCCCT
TCCTGCTGTGGGTGACAAGGAGGCCTGGCTGGCTGCCAGTCCCTGCCGCCTTCCTCT
TCTCCTTCCCACA
TTGGCTCCAGGGCCACTCTCCTCCCTAAGGATGTCCCTGTTCCTGGCCTGCCAGGGA
GAACTGGTCCATG
TGATTGCCTGGGTCCCGTCTCCAGCCCAAGCCTGCTCCTCTCCCCATGCTGACTCTAA
GCTTTTCAGACT
GTGGGAGCAGTGTCTGAGAAGCCACCAGGTTCAGTCCTGTTGTGCAGCCTCCATGCC
TGTCTCTGGGGAG
GGGGCTGCAGCAGGGCAGAGCCTTGAGTCTGGTGGAAGGGACAGAGTGGCCATCCT
CAAAGGAGGAAGCA
GCCTGCCCTAGACCACACCACCTAACGCCAGGCTGGAAAGGAACTGAAGTTTCACT
TGAGCCATGATTTG
TCCCGGGGGAAGCTTGGGCTGAGAAGGGCAGGGCCCTTTGACCAGGTCAAGAGGAG
CAGAAGCAGCAAGG
CTCAGCCCAGAGCCCAGGCCAGACAGGGGCACTAGGCAGCCTTGCGCCTTCCAGAG
CTTGGCACCCCGAG
AACCTGACTGGCTGTGCAGCAGTTCTGCCCCGCCTGTACCCCTTCTCCTCCCATTCTC
TCCTGAGCTCCC
CAGACCTGCATTTGGAATGCATCTTACTGTCTGACCTGCCTGCTACAGTGCCAGACA
GAGTGTAGCTTCT
TGCCCCCTCCCTCTGTCCCCTGCCTGGCCAGTTTTCCTGGTACATTGGAGCCAACTGA
GCAGTTCCTGGC
CTTTCCTCATCTCCGCCAGGCCTGTCCCACCCTAGCGCATCCCTCCCCACCTCCAGGC
CATTCCCGGCCT
GGCCTGCTGTTCCTTTGGTTGTCACGATTTCCCAGCCCTTCCCTTCAGCCCACCCTGC
TTTCAGCAGTTT
GGGCCTTTGCTGTGGACACAGCAGTCCCTGAAGAAAGTGCCAGCACCAACGCCCAC
AAGCTCTTAGGCTC
ATTCGCTAGATAACTTTTGTGCTCTCTCCACGCAGCTAATTTCCAGGAAGAAGGCCT
CAAACATTCCCCT
GGGCCCTGGCCCACCACAGCCCCTCCAGTCCTGCCCTCTACTCCTCCCAGGCTCGGG
AGCAGCCACTGGT
CTGGCGGGTTGGGCAGGCCCAGCCAGGAGGAAGCTGGGCTTGGTTCACCCTCCTCCT
GGGAGCCTGTGCC
CCAGTGGGATCTGCTTGATCTCCCTCCCCTGCTGCTTGGAACACACCCCAAGCTGGC
TCGAGCCCCTCCA
CCCCACCCACCTCATTCCCGCCCCCAGAGGCTGAGGTCACTGGCTCCCCTGGGCCCG
GGTGGGGTGGTGC
TGTCAACACCTGCCGGTTGGAGGAGGAGGCAAGGCCCCTGGGGGCTGTTGTCTTAG
CAATTGAGTAACTA
GGGAGCTTGGCTATACCGGAACTGGTTCCCAGGCCAGGCCGGAACCTGTGGAGGCT
GCAGCCCCCCGTGG
CCTTGGGGGTTTGGGGTGGCAGGAAGTCCACCCCAGGGACCCTGGCTGGGTGGGGG
TAGAGGGACATAGG
TTTGTTCAGAGGGCTCCAGGGGCAGGAAAAGCACATTTCTTGTCCTGCAGAGCCCCT
TCCCAAAGGTGAA
ATGGATGTGAGCAAATGGGGGTCCCTGCCTTGAGGTCAGGGTGGGGGGCAGCATGC
TCACCAGCCCCTCC
CTCCTTAGGTGTCCCTCAATGCATGGTTCTGGTCCACAGTTTTCCACACCAGGGACA
CTGACCTCACAGA
GGTGAGCATTCCTCCAGCTCCCCCTCCTGCACAGGGTGGTCCCAGAGGAGCCCAGA
AGTGGGCAGAGGGG
CTCTAGAGGGTCATGCCAACTCCCTCTGAGGAGCACTGGGAGGAGTATGGGGTGGG
CATCCTAAACCTGT
TGGTGCCCTTGATCCTCAGTGAGCCTCATCAGGTGGGGATGAGTATTCGCTCTTCTT
GCCTGATGAGGCA
GCTGAGCCTTCGACAGGGGGACCACATGCTTAGGGGCACCCAGCCAGTGAAGGGTT
GCCACAGGACGTGA
CCCCATGGCTGTCAGACTCCACACTGTGCTCTGAATTCTGTGCAGCGTGGTCATGTC
CTGGAGCCTCAGC
AGGAACCCTCCACCAGCGTCCCTAAAGCCTTGTTCCTGGGCACATTTTTAAAAACTT
GTATGGTGATGTG
AACACAAGACTCAGTCAGAGTGAAACAGTGATAGGCAGGCCCAGGACCCCGGCCCC
TCTCTGCCACTCCT
CCATGCCCCCATCCCCGCGGGTCCTCTCCGTGAAGCCTCATGCTGGTCCCTCACCAC
CCTTCCCTGTCCT
CAGAAAATGGACTACTTCTGTGCCTCCACTGTCATCCTACACTCAATCTACCTGTGCT
GCGTCAGGTGAG
CCTGCCTGGGTGGCTGCAGGGGCAAAATCGAACCCTGGGGGCAGAAAGGGGTCACC
CAGCCTTCCCCTGG
GGGCCTTCTTCACTAGTCTCCCAACACCTACGCCCCCCAACCCCCAACACATCAGCT
GTCCTGGGTGAGG
ACTCTGGGGTAGGACTGGGGGCCCTGGCTCCTGACAAGGAGCTGTAGCACTTGCTG
CCCAGCTGTGGCCT
GTTTGGTGGGGAGAGGGGTAGTGACTTCAGGGGCCATGCACCAATGTTGGGGGGAG
GAGATGCTTCAGGG
AATGCTGCTCTGGGGATGGGCCACCTGCCCTCTGAGCAACCCTGGACGGTGGGGCA
GGACCGTGGGGCTG
CAGCACCCAGCTGTGGTCAGTGCCTTCCGGGCTCTCCTGCTGCTCATGCTGACCGTG
CACGTCTCCTACC
TGAGCCTCATCCGCTTCGACTATGGCTACAACCTGGTGGCCAACGTGGCTATTGGTG
AGGCCCTGGGGGG
CTTGGGCCATCTGCAGAAGTGCTAGCTTGGGGTGCGAGTGGGAGGTTGGTGCCATTC
CTGGAGAAGGAGG
TTCTAGAGAGACTCTTGGGGTAGAGGAATGGAGAAGAATTTGAGGTGGGAGAGAGA
GGAGGCTGGGAGGA
GAGTCCGAGGATGATCCTGGGGTCAGAGAGCATGGAGTTGGGGGTGGCCTTGGGGA
GAAGGAGCCGAAGG
AATGAGTCTCTCCTGCCCCCACTGGCACCCAGGCCTGGTCAACGTGGTGTGGTGGCT
GGCCTGGTGCCTG
TGGAACCAGCGGCGGCTGCCTCACGTGCGCAAGTGCGTGGTGGTGGTCTTGCTGCTG
CAGGGGCTGTCCC
TGCTCGAGCTGCTTGACTTCCCACCGCTCTTCTGGGTCCTGGATGCCCATGCCATCTG
GCACATCAGCAC
CATCCCTGTCCACGTCCTCTTTTTCAGGTGGGTGCTGCCCCCTGCCTGGTGCTCACCT
TCTTTGGACCCT
TCCTTGCCCACTCCTTAGGGGAGATTGGGGGCTCTGTGTGCCCATCCGCCCCCTCCC
ACCTTGCCTGCAT
GCACCCCACCCTTGTCTCCATGCGAGCTGTCAGAGCTGTGTGCCTCAATGGGCTACT
CCTTTGGCCCACA
GCTTTCTGGAAGATGACAGCCTGTACCTGCTGAAGGAATCAGAGGACAAGTTCAAG
CTGGACTGAAGACC
TTGGAGCGAGTCTGCCCCAGTGGGGATCCTGCCCCCGCCCTGCTGGCCTCCCTTCTC
CCCTCAACCCTTG
AGATGATTTTCTCTTTTCAACTTCTTGAACTTGGACATGAAGGATGTGGGCCCAGAA
TCATGTGGCCAGC
CCACCCCCTGTTGGCCCTCACCAGCCTTGGAGTCTGTTCTAGGGAAGGCCTCCCAGC
ATCTGGGACTCGA
GAGTGGGCAGCCCCTCTACCTCCTGGAGCTGAACTGGGGTGGAACTGAGTGTGCTCT
TAGCTCTACCGGG
AGGACAGCTGCCTGTTTCCTCCCCATCAGCCTCCTCCCCACATCCCCAGCTGCCTGG
CTGGGTCCTGAAG
CCCTCTGTCTACCTGGGAGACCAGGGACCACAGGCCTTAGGGATACAGGGGGTCCC
CTTCTGTTACCACC
CCCCACCCTCCTCCAGGACACCACTAGGTGGTGCTGGATGCTTGTTCTTTGGCCAGC
CAAGGTTCACGGC
GATTCTCCCCATGGGATCTTGAGGGACCAAGCTGCTGGGATTGGGAAGGAGTTTCAC
CCTGACCATTGCC
CTAGCCAGGTTCCCAGGAGGCCTCACCATACTCCCTTTCAGGGCCAGGGCTCCAGCA
AGCCCAGGGCAAG
GATCCTGTGCTGCTGTCTGGTTGAGAGCCTGCCACCGTGTGTCGGGAGTGTGGGCCA
GGCTGAGTGCATA
GGTGACAGGGCCGTGAGCATGGGCCTGGGTGTGTGTGAGCTCAGGCCTAGGTGCGC
AGTGTGGAGACGGG
TGTTGTCGGGGAAGAGGTGTGGCTTCAAAGTGTGTGTGTGCAGGGGGTGGGTGTGTT
AGCGTGGGTTAGG
GGAACGTGTGTGCGCGTGCTGGTGGGCATGTGAGATGAGTGACTGCCGGTGAATGT
GTCCACAGTTGAGA
GGTTGGAGCAGGATGAGGGAATCCTGTCACCATCAATAATCACTTGTGGAGCGCCA
GCTCTGCCCAAGGC
GCCACCTGGGCGGACAGCCAGGAGCTCTCCATGGCCAGGCTGCCTGTGTGCATGTTC
CCTGTCTGGTGCC
CCTTTGCCCGCCTCCTGCAAACCTCACAGGGTCCCCACACAACAGTGCCCTCCAGAA
GCAGCCCCTCGGA
GGCAGAGGAAGGAAAATGGGGATGGCTGGGGCTCTCTCCATCCTCCTTTTCTCCTTG
CCTTCGCATGGCT
GGCCTTCCCCTCCAAAACCTCCATTCCCCTGCTGCCAGCCCCTTTGCCATAGCCTGAT
TTTGGGGAGGAG
GAAGGGGCGATTTGAGGGAGAAGGGGAGAAAGCTTATGGCTGGGTCTGGTTTCTTC
CCTTCCCAGAGGGT
CTTACTGTTCCAGGGTGGCCCCAGGGCAGGCAGGGGCCACACTATGCCTGCGCCCTG
GTAAAGGTGACCC
CTGCCATTTACCAGCAGCCCTGGCATGTTCCTGCCCCACAGGAATAGAATGGAGGG
AGCTCCAGAAACTT
TCCATCCCAAAGGCAGTCTCCGTGGTTGAAGCAGACTGGATTTTTGCTCTGCCCCTG
ACCCCTTGTCCCT
CTTTGAGGGAGGGGAGCTATGCTAGGACTCCAACCTCAGGGACTCGGGTGGCCTGC
GCTAGCTTCTTTTG
ATACTGAAAACTTTTAAGGTGGGAGGGTGGCAAGGGATGTGCTTAATAAATCAATT
CCAAGCCTCA

>XP_011523782.1 post-GPI attachment to proteins factor 3 isoform X1 [Homo sapiens]

MAGLAARLVLLAGAAALASGSQGDREPVYRDCVLQCEEQNCSGGALNHFRSRQPIYMS
LAGWTCRDDCKY
ECMWVTVGLYLQEGHKVPQFHGKWPFSRFLFFQEPASAVASFLNGLASLVMLCRYRTF
VPASSPMYHTCV
AFAWVSLNAWFWSTVFHTRDTDLTEKMDYFCASTVILHSIYLCCVRTVGLQHPAVVSA
FRALLLLMLTVH
VSYLSLIRFDYGYNLVANVAIAFWKMTACTC

Protein 3D structures
(nu este)

Analiza sursei ENSEMBL

Name of the transcript Transcript length, bp Protein length, aa UniProt ID
STARD3-201 2770 445aa Q14849
STARD3-202 1949 427aa Q14849
STARD3-209 1666 445aa Q14849
STARD3-219 1989 475aa J3QLM1
STARD3-203 673 196aa C9J555

Tabel. Procese biologige în care este implicata STARD3

Accession ID Term Definition of the biological process
GO:0006629 Lipid metabolic The chemical reactions and pathways involving
process lipids, compounds soluble in an organic solvent
but not, or sparingly, in an aqueous solvent.
Includes fatty acids; neutral fats, other fatty-
acid esters, and soaps; long-chain (fatty)
alcohols and waxes; sphingoids and other long-
chain bases; glycolipids, phospholipids and
sphingolipids; and carotenes, polyprenols,
sterols, terpenes and other isoprenoids.
GO:0006869 Lipid transport The directed movement of lipids into, out of or
within a cell, or between cells, by means of
some agent such as a transporter or pore. Lipids
are compounds soluble in an organic solvent
but not, or sparingly, in an aqueous solvent.
GO:0008203 Cholesterol metabolic The chemical reactions and pathways involving
process cholesterol, cholest-5-en-3 beta-ol, the
principal sterol of vertebrates and the precursor
of many steroids, including bile acids and
steroid hormones. It is a component of the
plasma membrane lipid bilayer and of plasma
lipoproteins and can be found in all animal
tissues.
GO:0030301 Cholesterol transport The directed movement of cholesterol, cholest-
5-en-3-beta-ol, into, out of or within a cell, or
between cells, by means of some agent such as
a transporter or pore.

Tabel. Funcţii moleculare ale STARD3

Accession ID Term Definition of the molecular
process
GO:0008289 Lipid binding Interacting selectively and
non-covalently with a lipid.
GO:0015485 Cholesterol binding Interacting selectively and
non-covalently with
cholesterol (cholest-5-en-3-
beta-ol); the principal sterol of
vertebrates and the precursor
of many steroids, including
bile acids and steroid
hormones.
GO:0120020 Cholesterol transfer activity Removes cholesterol from a
membrane or a monolayer
 lipid particle, transports it
through the aqueous phase
while protected in a
hydrophobic pocket, and
brings it to an acceptor
membrane or lipid particle.

Phenotypes, diseases and traits asociated with this gene ENSG00000131748

Nu este (none found)
Phenotypes, diseases and traits asociated with variants in this gene:
ALL variants with a phenotype annotation 7 records.
Annotated by HGMD but not phenotype description in publicly available – records.

Codul SNP: rs149385787

Alleles:TCTTCTTC/TCTTC
Ancestral form:TCTTCTTC
MAF: 0.11
Phenotype data:
Population Gnetics for EUR
Allele frequences
C T
EUR 100% 0%
CEU 100% 0%
FIN 100% 0%
GBR 100% 0%
IBS 100% 0%
TSI 100% 0%
 TSI

IBS

GBR

C
FIN T

CEU

EUR

0% 20% 40% 60% 80% 100% 120%

Genotype frequences
CC CT TT
EUR 100% 0% 0%
CEU 100% 0% 0%
FIN 100% 0% 0%
GBR 100% 0% 0%
IBS 100% 0% 0%
TSI 100% 0% 0%

TSI

IBS

GBR
CC
CT
FIN TT

CEU

EUR

0% 20% 40% 60% 80% 100% 120%

Reviu personal
Bioinformatica in secolul XXI este un subiect foarte important pentru fiecare doctor, fie legat cu
domeniu chirurgical fie terapeutic, deoarece fiecare maladie are la bază defect genetic sau
predispoziţii genetice pentru apariţia maladiei. Daca analizam cele mai raspândite maladii sau
chiar mai mult cele rar întâlnite, putem să găsim o modificare genetica, care a fost împlicată în
patogeneza maladiei. Fiecare medic, accesând OMIM, PubMed, ENSEMBL, poate să gaseşte
informaţie despre maladie, genele, care sunt împlicate în dezvoltarea maladiei, publicaţiile,
legate de tratament, metode de diagnostic şi alte informaţii folositoare, care pot sa ajută în tactica
curativa, în diagnostic prenatal (în opinia mea, foarte important şi binevenit pentru fiecare cuplu
cu factori de risc), în preveniţie.
Pentru mine a fost foarte interesant să lucrez cu gena, să analizez diferite resurse, mi s-a părut
mai utile şi uşoare pentru analizarea resursele PubMed şi ENSEMBL. Nu pot să spun, că altele
au fost inutile, dar ele necesită cunoştinţele aprofundate, având în vedere utilizarea lor practica.
Mi-a fost interesant cât de des se întâlneşte maladia în diferite populaţii, care sunt metode de
diagnostic şi tratatment, cred că această informaţie este mai „aplicabilă” în condiţii medicinei de
fiecare zi (de rutina). În general, toate resursele sunt folositoare, au fiecare valoarea sa, sunt bine
structurate şi uşor de analizat.
Eu personal cred, că valoarea informaşiei genomice este foarte mare în contextul medicinei de
viitor, chiar şi ideea testelor molecular-genetice, bazele de date pentru fiecare persoana aparte.
Cred că ar fi foarte folositor în planificarea de exemplu sarcinei să ai analiza întreagă a
informaţiei genomice mamei şi tatei. Începând de analizarea genului, proteinelor, produselor
explicaşiei lor, factorilor de risc noi putem să facem analiza întreagă pentru populaţie sănătoasă.
Indeplinind sarcinile, eu am intîlnit dificultăţi cu nivelul meu de limbă engleză, ce cred că este
problema raspândită ţi trebuie să fie schimbată. Nu pot să spun, că a fost uşor de amintit toate
aspectele biologiei moleculare şi cred, că trebuie să ne axăm pe problema dată, că, fiind student,
eu am uitat careva aspecte, bineînţeles ca medicii vor uita pe parcursul practicii. Trebuie să
lucrezi nu cu o gena, dar mai des pentru formarea deprinderii, fiindcă timpul pierdut este foarte
preţuos. O gena poate fi împlicată în câteva patologii şi eu ca medic trebuie să inţeleg cum să
caut anume ceea, ce îmi trebuie pentru pacient dat. Multe articole de exemplu la PubMed sunt
foarte complicate şi estrem de înguste, nu este de ajuns limbajul şi abilităţi tehnice, pentru
analizarea efectivă şi repede.
Mie imi place model, când vine pacient şi eu pot să ştiu tot despre maladia lui, despre
predispoziţii lui genetice, despre defecte, care pot să provoacă maladii, sa-l ajut cu tratament
potrivit şi la timp sau chiar cu preveniţia cea mai precoce.
Un pacient, în opinia mea, este în primul rând om cu expresia lui subiectiva faţă de maladia sa şi
pentru mine este important să inţeleg anume viziunea lui şi să înţeleg maladia aşa, cum el o
înţelege. Pe primul plan eu pun aspect emoţional, fiindcă eu, fiind o persoana emotiva foarte
sensibil exprim şi emoţiile altora. Pentru mine pacient ideal este om, care mă crede şi din start
este deschis pentru să-şi expune toate semnele, simptomele, emoţiile legate cu maladia lui.
Nu în ultimul rând un pacient trebuie să fie educat macar cu cele mai simple aspecte în medicina,
de aceea cred, că noi medicii trebuie să fim mai deschişi cu pacienţii, să le dăm cât mai multă
informaţie, numai aşa se formează relaţia ideală, chiar şi din aspect genetic.