UBAP1

Ubiquitin-associated protein 1 is
UBAP1
a protein that in humans is
encoded by the UBAP1 gene.[5]

This gene is a member of the

UBA domain family, whose
members include proteins having
connections to ubiquitin and the
ubiquitination pathway. The
ubiquitin associated domain is
thought to be a non-covalent
ubiquitin binding domain
consisting of a compact three
helix bundle. This particular
protein originates from a gene
locus in a refined region on
chromosome 9 undergoing loss of
heterozygosity in nasopharyngeal
carcinoma (NPC). Taking into
account its cytogenetic location,
this UBA domain family member
is being studies as a putative
target for mutation in
nasopharyngeal carcinomas. [5]
Model organisms
Model organisms have been used
in the study of UBAP1 function.
A conditional knockout mouse
line, called
Ubap1 tm1a(EUCOMM)Wtsi[10][11]
Available structures
PDB Ortholog search: PDBe (https://www.ebi.ac.uk/pdbe/search
Results.html?display=both&term=Q8BH48%20or%20Q9NZ
09) RCSB (http://www.rcsb.org/pdb/search/smartSubquery.d
o?smartSearchSubtype=UpAccessionIdQuery&accessionId
List=Q8BH48,Q9NZ09)
List of PDB id codes
1WGN (https://www.rcsb.org/structure/1WGN),
4AE4 (https://www.rcsb.org/structure/4AE4)
Identifiers
Aliases UBAP1 (https://www.genenames.org/cgi-bin/gene_symbol
_report?hgnc_id=12461), NAG20, UAP, UBAP, UBAP-1,
ubiquitin associated protein 1, SPG80
External OMIM: 609787 (https://omim.org/entry/609787) MGI:
IDs 2149543 (http://www.informatics.jax.org/marker/MGI:2149
543) HomoloGene: 9554 (https://www.ncbi.nlm.nih.gov/en
trez/query.fcgi?cmd=Retrieve&db=homologene&dopt=Ho
moloGene&list_uids=9554) GeneCards: UBAP1 (https://w
ww.genecards.org/cgi-bin/carddisp.pl?gene=UBAP1)
Gene location (Human)

was generated as part of the

International Knockout Mouse
Consortium program — a high-
throughput mutagenesis project to
generate and distribute animal
models of disease to interested Chr. Chromosome 9 (human)[1]
scientists — at the Wellcome
Trust Sanger Institute.[12][13][14]

Band 9p13.3 Start 34,179,005 bp[1]

Male and female animals End 34,252,523 bp[1]
underwent a standardized
Gene location (Mouse)
phenotypic screen to determine
the effects of deletion.[8][15]
Twenty five tests were carried out
and two phenotypes were
reported. Fewer homozygous
mutant embryos were identified
during gestation than predicted, Chr. Chromosome 4 (mouse)[2]
and none survived until weaning.
The remaining tests were carried
out on heterozygous mutant adult
mice; no significant abnormalities Band 4|4 A5 Start 41,348,996 bp[2]
were observed in these animals.[8]
End 41,390,525 bp[2]

References RNA expression pattern

1. GRCh38: Ensembl release

89: ENSG00000165006 (ht
tp://May2017.archive.ense
mbl.org/Homo_sapiens/Ge
ne/Summary?db=core;g=E
NSG00000165006) -
Ensembl, May 2017
2. GRCm38: Ensembl release
89:
ENSMUSG00000028437
(http://May2017.archive.en
sembl.org/Mus_musculus/
Gene/Summary?db=core;g
=ENSMUSG00000028437)
- Ensembl, May 2017
3. "Human PubMed
Reference:" (https://www.n
cbi.nlm.nih.gov/sites/entre
z?db=gene&cmd=Link&Lin
kName=gene_pubmed&fro
m_uid=51271). National More reference expression data (http://biogps.org/gene/51271/)
Center for Biotechnology
Gene ontology
Information, U.S. National
Library of Medicine. Molecular • ubiquitin binding (http://amigo.geneontology.org/amig
4. "Mouse PubMed function o/term/GO:0043130)
Reference:" (https://www.n • protein binding (http://amigo.geneontology.org/amigo/
cbi.nlm.nih.gov/sites/entre term/GO:0005515)
z?db=gene&cmd=Link&Lin
kName=gene_pubmed&fro Cellular • cytoplasm (http://amigo.geneontology.org/amigo/ter
m_uid=67123). National component m/GO:0005737)
Center for Biotechnology • cytosol (http://amigo.geneontology.org/amigo/term/G
Information, U.S. National O:0005829)
Library of Medicine.
• endosome (http://amigo.geneontology.org/amigo/ter
 5. "Entrez Gene: UBAP1
ubiquitin associated protein
1" (https://www.ncbi.nlm.ni
h.gov/sites/entrez?Db=gen
e&Cmd=ShowDetailView&
TermToSearch=51271).
6. "Salmonella infection data
for Ubap1" (http://www.san
ger.ac.uk/mouseportal/phe
notyping/MACE/salmonella
-challenge/). Wellcome
Trust Sanger Institute.
7. "Citrobacter infection data
for Ubap1" (http://www.san
ger.ac.uk/mouseportal/phe
notyping/MACE/citrobacter
-challenge/). Wellcome
Trust Sanger Institute.
8. Gerdin AK (2010). "The
Sanger Mouse Genetics
Programme: High
throughput characterisation
of knockout mice". Acta
Ophthalmologica. 88
(S248): 0.
doi:10.1111/j.1755-
3768.2010.4142.x (https://d
oi.org/10.1111%2Fj.1755-3
768.2010.4142.x).
9. Mouse Resources Portal (h
ttp://www.sanger.ac.uk/mo
useportal/), Wellcome Trust
Sanger Institute.
10. "International Knockout
Mouse Consortium" (http://
www.knockoutmouse.org/
martsearch/search?query=
Ubap1).
11. "Mouse Genome
Informatics" (http://www.inf
ormatics.jax.org/searchtoo
l/Search.do?query=MGI:44
33059).
m/GO:0005768)
• plasma membrane (http://amigo.geneontology.org/am
igo/term/GO:0005886)
• Golgi apparatus (http://amigo.geneontology.org/amig
o/term/GO:0005794)
• ESCRT I complex (http://amigo.geneontology.org/ami
go/term/GO:0000813)
• endosome membrane (http://amigo.geneontology.or
g/amigo/term/GO:0010008)
• host cell (http://amigo.geneontology.org/amigo/term/
GO:0043657)
Biological • protein transport (http://amigo.geneontology.org/amig
process o/term/GO:0015031)
• ubiquitin-dependent protein catabolic process via the
multivesicular body sorting pathway (http://amigo.gene
ontology.org/amigo/term/GO:0043162)
• endosomal transport (http://amigo.geneontology.org/a
migo/term/GO:0016197)
• viral life cycle (http://amigo.geneontology.org/amigo/t
erm/GO:0019058)
• intracellular transport of virus (http://amigo.geneontol
ogy.org/amigo/term/GO:0075733)
Sources:Amigo (http://amigo.geneontology.org/) / QuickGO (https://
www.ebi.ac.uk/QuickGO/)
Orthologs
Species Human Mouse
Entrez
51271 (https://www.nc 67123 (https://www.ncbi.
bi.nlm.nih.gov/entrez/ nlm.nih.gov/entrez/query.
query.fcgi?db=gene&c fcgi?db=gene&cmd=retri
md=retrieve&dopt=def eve&dopt=default&list_ui
ault&list_uids=51271& ds=67123&rn=1)
rn=1)
Ensembl
ENSG00000165006 ENSMUSG00000028437
(http://www.ensembl.o (http://www.ensembl.org/
rg/Homo_sapiens/gen Mus_musculus/genevie
eview?gene=ENSG00 w?gene=ENSMUSG000
000165006;db=core) 00028437;db=core)
UniProt
Q9NZ09 (https://www. Q8BH48 (https://www.uni
uniprot.org/uniprot/Q9 prot.org/uniprot/Q8BH4
NZ09) 8)
12. Skarnes, W. C.; Rosen, B.;
West, A. P.; Koutsourakis,
M.; Bushell, W.; Iyer, V.;
Mujica, A. O.; Thomas, M.;
Harrow, J.; Cox, T.;
Jackson, D.; Severin, J.;
Biggs, P.; Fu, J.; Nefedov,
M.; De Jong, P. J.; Stewart,
A. F.; Bradley, A. (2011). "A
conditional knockout
resource for the genome-
wide study of mouse gene
function" (https://www.ncbi.
nlm.nih.gov/pmc/articles/P
MC3572410). Nature. 474
(7351): 337–342.
doi:10.1038/nature10163
(https://doi.org/10.1038%2
Fnature10163).
PMC 3572410 (https://ww
w.ncbi.nlm.nih.gov/pmc/arti
cles/PMC3572410).
PMID 21677750 (https://w
ww.ncbi.nlm.nih.gov/pubm
ed/21677750).
13. Dolgin E (June 2011).
"Mouse library set to be
knockout". Nature. 474
(7351): 262–3.
doi:10.1038/474262a (http
s://doi.org/10.1038%2F474
262a). PMID 21677718 (htt
ps://www.ncbi.nlm.nih.gov/
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14. Collins FS, Rossant J,
Wurst W (January 2007).
"A mouse for all reasons".
Cell. 128 (1): 9–13.
doi:10.1016/j.cell.2006.12.
018 (https://doi.org/10.101
6%2Fj.cell.2006.12.018).
PMID 17218247 (https://w
ww.ncbi.nlm.nih.gov/pubm
ed/17218247).
RefSeq NM_001171201 (http NM_001290454 (https://
(mRNA) s://www.ncbi.nlm.nih.g www.ncbi.nlm.nih.gov/en
ov/entrez/viewer.fcgi? trez/viewer.fcgi?val=NM_
val=NM_001171201) 001290454)
NM_001171202 (http NM_023305 (https://ww
s://www.ncbi.nlm.nih.g w.ncbi.nlm.nih.gov/entre
ov/entrez/viewer.fcgi? z/viewer.fcgi?val=NM_02
val=NM_001171202) 3305)
NM_001171203 (http NM_001355508 (https://
s://www.ncbi.nlm.nih.g www.ncbi.nlm.nih.gov/en
ov/entrez/viewer.fcgi? trez/viewer.fcgi?val=NM_
val=NM_001171203) 001355508)
NM_001171204 (http NM_001355509 (https://
s://www.ncbi.nlm.nih.g www.ncbi.nlm.nih.gov/en
ov/entrez/viewer.fcgi? trez/viewer.fcgi?val=NM_
val=NM_001171204) 001355509)
NM_016525 (https://w
ww.ncbi.nlm.nih.gov/e
ntrez/viewer.fcgi?val=
NM_016525)
RefSeq
NP_001164672 (http NP_001277383 (https://
(protein)
s://www.ncbi.nlm.nih.g www.ncbi.nlm.nih.gov/en
ov/entrez/viewer.fcgi? trez/viewer.fcgi?val=NP_
val=NP_001164672) 001277383)
NP_001164673 (http NP_075794 (https://ww
s://www.ncbi.nlm.nih.g w.ncbi.nlm.nih.gov/entre
ov/entrez/viewer.fcgi? z/viewer.fcgi?val=NP_07
val=NP_001164673) 5794)
NP_001164674 (http NP_001342437 (https://
s://www.ncbi.nlm.nih.g www.ncbi.nlm.nih.gov/en
ov/entrez/viewer.fcgi? trez/viewer.fcgi?val=NP_
val=NP_001164674) 001342437)
NP_001164675 (http NP_001342438 (https://
s://www.ncbi.nlm.nih.g www.ncbi.nlm.nih.gov/en
ov/entrez/viewer.fcgi? trez/viewer.fcgi?val=NP_
val=NP_001164675) 001342438)
NP_057609 (https://w
ww.ncbi.nlm.nih.gov/e
ntrez/viewer.fcgi?val=
NP_057609)
Location Chr 9: 34.18 – 34.25 Mb Chr 4: 41.35 – 41.39 Mb (http
(UCSC) (https://genome.ucsc.edu/ s://genome.ucsc.edu/cgi-bin/
cgi-bin/hgTracks?org=Hu hgTracks?org=Mouse&db=m
15. van der Weyden L, White man&db=hg38&position=c m0&position=chr4:41348996-
JK, Adams DJ, Logan DW hr9:34179005-34252523) 41390525)
(2011). "The mouse [3] [4]
PubMed
genetics toolkit: revealing
function and mechanism" search
(https://www.ncbi.nlm.nih.g Wikidata
ov/pmc/articles/PMC32188
37). Genome Biol. 12 (6): View/Edit Human View/Edit Mouse

224. doi:10.1186/gb-2011-
12-6-224 (https://doi.org/1
Ubap1 knockout mouse phenotype
0.1186%2Fgb-2011-12-6-2
24). PMC 3218837 (https:// Characteristic Phenotype
www.ncbi.nlm.nih.gov/pmc/ Homozygote viability Abnormal
articles/PMC3218837).
PMID 21722353 (https://w Recessive lethal study Abnormal
ww.ncbi.nlm.nih.gov/pubm Fertility Normal
ed/21722353).
Body weight Normal
Anxiety Normal
Further reading
Neurological assessment Normal
Maruyama K, Sugano Hartley JL, Temple GF,
Grip strength Normal
S (1994). "Oligo- Brasch MA (2001).
capping: a simple "DNA Cloning Using In Hot plate Normal
method to replace the Vitro Site-Specific Dysmorphology Normal
cap structure of Recombination" (http
eukaryotic mRNAs with s://www.ncbi.nlm.nih.go Indirect calorimetry Normal
oligoribonucleotides". v/pmc/articles/PMC310 Glucose tolerance test Normal
Gene. 138 (1–2): 171– 948). Genome Res. 10
4. doi:10.1016/0378- (11): 1788–95. Auditory brainstem response Normal
1119(94)90802-8 (http doi:10.1101/gr.143000 DEXA Normal
s://doi.org/10.1016%2F (https://doi.org/10.110
Radiography Normal
0378-1119%2894%299 1%2Fgr.143000).
0802-8). PMC 310948 (https://w Body temperature Normal
PMID 8125298 (https:// ww.ncbi.nlm.nih.gov/p
Eye morphology Normal
www.ncbi.nlm.nih.gov/p mc/articles/PMC31094
ubmed/8125298). 8). PMID 11076863 (htt Clinical chemistry Normal
Suzuki Y, Yoshitomo- ps://www.ncbi.nlm.nih.g Plasma immunoglobulins Normal
Nakagawa K, ov/pubmed/11076863).
Haematology Normal
Maruyama K, et al.
(1997). "Construction Peripheral blood lymphocytes Normal
and characterization of
Micronucleus test Normal
a full length-enriched
and a 5'-end-enriched Heart weight Normal
cDNA library". Gene. Brain histopathology Normal
200 (1–2): 149–56.
doi:10.1016/S0378- Salmonella infection Normal[6]
1119(97)00411-3 (http
Citrobacter infection Normal[7]
s://doi.org/10.1016%2F
S0378-1119%2897%2 All tests and analysis from[8][9]
900411-3).
PMID 9373149 (https://
www.ncbi.nlm.nih.gov/p
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Wiemann S, Weil B, Qian J, Yang J, Zhang
Wellenreuther R, et al. X, et al. (2001).
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