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Gene id 83844
Gene Summary     SNPs    Protein Summary    Gene ontology    Diseases    PubMed    

Gene Summary
Gene Symbol USP26   Gene   UCSC   Ensembl
Gene name ubiquitin specific peptidase 26
Alternate names ubiquitin carboxyl-terminal hydrolase 26, deubiquitinating enzyme 26, ubiquitin specific protease 26, ubiquitin thioesterase 26, ubiquitin thiolesterase 26, ubiquitin-specific processing protease 26,
Gene location Xq26.2 (133083767: 133024630)     Exons: 2     NC_000023.11
Gene summary(Entrez) This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases and is a deubiquitinating enzyme (DUB) with His and Cys domains. It is specifically expressed in testis tissue. Mutations in this gene have been associated with Sert
OMIM 300309

SNPs
rs35397110

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.133027131G>A
NC_000023.11   g.133027131G>T
NC_000023.10   g.132161159G>A
NC_000023.10   g.132161159G>T
NG_013268.1   g.6142C>T
NG_013268.1   g.6142C>A
NM_031907.2   c.1090C>T
NM_031907.2   c.1090C>A
NM_031907.1   c.1090C>T
NM_031907.1   c.1090C>A
XM_017  

Protein Summary
Protein general information Q9BXU7  

Name: Ubiquitin carboxyl terminal hydrolase 26 (EC 3.4.19.12) (Deubiquitinating enzyme 26) (Ubiquitin thioesterase 26) (Ubiquitin specific processing protease 26)

Length: 913  Mass: 104,047

Sequence MAALFLRGFVQIGNCKTGISKSKEAFIEAVERKKKDRLVLYFKSGKYSTFRLSDNIQNVVLKSYRGNQNHLHLTL
QNNNGLFIEGLSSTDAEQLKIFLDRVHQNEVQPPVRPGKGGSVFSSTTQKEINKTSFHKVDEKSSSKSFEIAKGS
GTGVLQRMPLLTSKLTLTCGELSENQHKKRKRMLSSSSEMNEEFLKENNSVEYKKSKADCSRCVSYNREKQLKLK
ELEENKKLECESSCIMNATGNPYLDDIGLLQALTEKMVLVFLLQQGYSDGYTKWDKLKLFFELFPEKICHGLPNL
GNTCYMNAVLQSLLSIPSFADDLLNQSFPWGKIPLNALTMCLARLLFFKDTYNIEIKEMLLLNLKKAISAAAEIF
HGNAQNDAHEFLAHCLDQLKDNMEKLNTIWKPKSEFGEDNFPKQVFADDPDTSGFSCPVITNFELELLHSIACKA
CGQVILKTELNNYLSINLPQRIKAHPSSIQSTFDLFFGAEELEYKCAKCEHKTSVGVHSFSRLPRILIVHLKRYS
LNEFCALKKNDQEVIISKYLKVSSHCNEGTRPPLPLSEDGEITDFQLLKVIRKMTSGNISVSWPATKESKDILAP
HIGSDKESEQKKGQTVFKGASRRQQQKYLGKNSKPNELESVYSGDRAFIEKEPLAHLMTYLEDTSLCQFHKAGGK
PASSPGTPLSKVDFQTVPENPKRKKYVKTSKFVAFDRIINPTKDLYEDKNIRIPERFQKVSEQTQQCDGMRICEQ
APQQALPQSFPKPGTQGHTKNLLRPTKLNLQKSNRNSLLALGSNKNPRNKDILDKIKSKAKETKRNDDKGDHTYR
LISVVSHLGKTLKSGHYICDAYDFEKQIWFTYDDMRVLGIQEAQMQEDRRCTGYIFFYMHNEIFEEMLKREENAQ
LNSKEVEETLQKE
Structural information
Protein Domains
 USP. (295-886)
Interpro:  IPR001394  IPR032069  IPR038093  IPR018200  IPR028889  
Prosite:   PS00972 PS00973 PS50235
CDD:   cd13312
STRING:   ENSP00000359869
Other Databases GeneCards:  USP26  Malacards:  USP26

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:0005515 protein binding
 IPI molecular function
GO:0005634 nucleus
 IDA cellular component
GO:0006511 ubiquitin-dependent prote
in catabolic process
 IEA biological process
GO:0016579 protein deubiquitination
 IDA biological process
GO:0036459 thiol-dependent ubiquitin
yl hydrolase activity
 IEA molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005634 nucleus
 IEA cellular component
GO:0005634 nucleus
 IEA cellular component
GO:0005634 nucleus
 IDA cellular component
GO:0006508 proteolysis
 IEA biological process
GO:0006511 ubiquitin-dependent prote
in catabolic process
 IEA biological process
GO:0008233 peptidase activity
 IEA molecular function
GO:0008234 cysteine-type peptidase a
ctivity
 IEA molecular function
GO:0016579 protein deubiquitination
 IEA biological process
GO:0016579 protein deubiquitination
 IDA biological process
GO:0016787 hydrolase activity
 IEA molecular function
GO:0036459 thiol-dependent ubiquitin
yl hydrolase activity
 IEA molecular function
GO:0036459 thiol-dependent ubiquitin
yl hydrolase activity
 IEA molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005634 nucleus
 IDA cellular component
GO:0016579 protein deubiquitination
 IDA biological process

Diseases

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Associated diseases References
Azoospermia GAD: 18958354
Recurrent pregnancy loss (RPL) INFBASE: 23779098
Oligoasthenozoospermia MIK: 21147082
Male factor infertility MIK: 22568204
Asthenozoospermia MIK: 21147082
Hypogonadotropic hypogonadism MIK: 15970005
Oligozoospermia MIK: 17121659
Spermatogenesis defects MIK: 17968467
Spermatogenesis defects MIK: 18958354
Spermatogenesis defects MIK: 15562280
Non obstructive azoospermia MIK: 25739334
Sertoli cell only syndrome (SCOS) MIK: 16888075
Varicocele MIK: 15562280
Cryptozoospermia MIK: 17121659
Cryptozoospermia MIK: 17121659
Oligozoospermia MIK: 17121659
Azoospermia MIK: 18377898
Male infertility MIK: 22568204
Spermatogenic defects MIK: 15562280
Varicocele MIK: 15562280
Asthenozoospermia MIK: 21147082
Oligoasthenozoospermia MIK: 21147082
Hypogonadism MIK: 15970005
Low testosterone production MIK: 24922532
Recurrent pregnancy loss MIK: 23779098
Sertoli cell-only syndrome (SCOS) MIK: 16888075
Non-obstructive azoospermia MIK: 25739334

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
25739334 Non-obstru
ctive azoo
spermia
1466 (757 NOA p
atients, 709 fe
rtile males)
 Male infertility  BRWD1
DNMT1
DNMT3B
RNF17
UBR2
USP1
USP26
BRDT and MTHFR
 Show abstract
23779098 Male infer
tility, re
current pr
egnancy lo
ss
 USP26 were investigated: 1737 G?>?A, 1090 C?>?T, 370-371ins ACA, 494 T?>?C and 1423 C?>?T Iranian
 298 (166 infert
ile men with no
n-obstructive a
zoospermia, 72
male partners o
f couples who h
ad previously e
xperienced ?3 c
linical first t
rimester sponta
neous abortions
and 60 fertile
men)
 Male infertility
Show abstract
25755145 Male infer
tility
 c.363_364insACA, c.494T>C, c.1423C>T, c.1090C>T, c.1737G>A
4313 (1716 pati
ents, 2597 cont
rols)
 Male infertility
Show abstract
24875820 Male infer
tility
 USP26 (370-371insACA, 494T>C, and 1423C>T haplotype) Asian
 4108 (1603 pati
ents, 2505 cont
rols)
 Male infertility
Show abstract
22568204 Idiopathic
male infe
rtility
 Usp26 (364insACA and 460G > A, 1 044T > A substitution in 1)
241 (41 patient
s with idiopath
ic infertility
from 150 infert
ile males, 50 n
ormal fertile m
en as controls)
 Male infertility Usp26
 Show abstract
21147082 Male infer
tility, az
oospermia,
oligozoos
permia, as
thenozoosp
ermia, or
oligoasthe
nozoosperm
ia
 USP26 (508G>A, G170R, 576G>A )
322 (221 infert
ile men with az
oospermia, olig
ozoospermia, as
thenozoospermia
, or oligoasthe
nozoospermia, 1
01 control fert
ile men using D
NA sequencing)
 Male infertility USP26
 Show abstract
18958354 Spermatoge
nic defect
 USP26 (370-371insACA, 494T>C, 576G>A, ss6202791C>T, 1737G>A) Chinese
Han
Male infertility USP26
 Show abstract
18927127 Male infer
tility
 USP26 (1737G>A, 1090C > T, 370-371insACA, 494T > C and 1423C>T)
884 (535 infert
ile cases, 349
controls)
 Male infertility USP26
 Show abstract
18377898 Idiopathic
azoosperm
ia,severe
oligozoosp
ermia
 USP26 (1090C>T,L364F)

Male infertility USP26
 Show abstract
17968467 Spermatoge
nesis impa
irment, ma
le inferti
lity
 USP26 (364insACA; 460G right triple arrow A, 1044T right triple arrow A substitution)
41 infertile me
n
 Male infertility USP26
 Show abstract
17121659 cryptozoos
permia, ol
igozoosper
mia
 USP26 (c.370_371insACA, c.494T>C and c.1423C>T) Caucasi
an
 348 (202 contro
l samples, 146
patients with c
ryptozoospermia
or oligozoospe
rmia)
 Male infertility USP26
 Show abstract
16888075 Male infer
tility, Se
rtoli cell
-only synd
rome (SCOS
)
 USP26 (371insACA, 494T>C and 1423C>T haplotype, T123-124ins, L165S and H475Y) sub-Sah
aran Af
rican,
South a
nd East
Asian
populat
ions
Male infertility USP26
 Show abstract
15970005 Male infer
tility, hy
pogonadism
 USP26 (1090C-->T substitution and (363insACA; 494T-->C; 1423C-->T))
205 (188 patien
ts with non-obs
tructive azoosp
ermia (NOA), 17
fertile contro
ls)
 Male infertility USP26
 Show abstract
15562280 Impaired s
permatogen
esis, vari
cocoele
 USP26 (370-371insACA, 494T>C and 1423C>T causing T123-124ins, L165S and H475Y)
243 (69 patient
s with Sertoli
cell-only syndr
ome, 32 patient
s with maturati
on arrest, 142
control samples
)
 Male infertility USP26
 Show abstract
25755145 Male infer
tility
 NM_031907.1: c.363_364insACA, c.494T>C, c.1423C>T, c.1090C>T, c.1737G>A
4313 (1716 pati
ents, 2597 cont
rols)
 Male infertility USP26
 Show abstract
27726449 Marginal r
ole in mal
e spermato
genesis, n
onobstruct
ive azoosp
ermia, Mal
e infertil
ity
 c.882C>A

Male infertility
Show abstract
27089915 Nonobstruc
tive azoos
permia (NO
A)
 R344W
1485 (776 patie
nts with NOA, 7
09 fertile men)
 Male infertility
Show abstract
20378615 Oligozoosp
ermia or a
zoospermia
 rs35397110 Europea
n
 442 (158 normos
permic controls
, 63 moderately
oligozoospermi
c samples, 141
severe oligozoo
spermic samples
and 80 non-obs
tructed azoospe
rmic samples)
 Male infertility GWAS
 Show abstract
32202304 Oligozoosp
ermia
 c.2195delT (p.Phe732Serfs*14)
1 case
 Male infertility
Show abstract
24922532 Male infer
tility, lo
w testoste
rone produ
ction

Male infertility Expression
 Show abstract
30561524 Male subfe
rtility

Male infertility
Show abstract