|
Gene id |
5940 |
| Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
RBMY1A1 Gene UCSC Ensembl |
|
Aliases |
RBM, RBM1, RBM2, RBMY, RBMY1C, YRRM1, YRRM2 |
|
Gene name |
RNA binding motif protein, Y-linked, family 1, member A1 |
|
Alternate names |
RNA-binding motif protein, Y chromosome, family 1 member A1, RNA-binding motif protein 2, RNA-binding motif protein, Y chromosome, family 1 member A1/C, Y chromosome RNA recognition motif 1, Y chromosome RNA recognition motif 2, |
|
Gene location |
Yq11.223 (21534878: 21559682) Exons: 13 NC_000024.10
|
|
Gene summary(Entrez) |
This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. This protein is thought to function as a splicing regulator during spermatogenesis. Multiple closely
|
|
OMIM |
400006 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Associated diseases |
References |
| Azoospermia | MIK: 18043844 |
| Male factor infertility | MIK: 17296183 |
| Oligozoospermia | MIK: 8864744 |
| Sertoli cell only syndrome (SCOS) | MIK: 11172293 |
| Oligozoospermia | MIK: 17050323 |
| Azoospermia | MIK: 7833938 |
| Associated with sperm development | MIK: 15051956 |
| Asthenozoospermia | MIK: 28498920 |
| Male infertility | MIK: 28498920 |
| Azoospermia | MIK: 11163833 |
| Spermatogenic defects | MIK: 14996997 |
| Male infertility | MIK: 17296183 |
| May be involved in RNA processing, such as RNA splicing or RNA export which are events necessary for normal spermatogenesis | MIK: 11554984 |
| Oligozoospermia | MIK: 17050323 |
| Sertoli-cell-only (SCO) syndrome | MIK: 11172293 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 7833938 |
Azoospermi
a
|
|
Japanes
e
|
|
Male infertility |
|
Show abstract |
| 18043844 |
Azoospermi
a, Oligosp
ermia
|
AZFa, AZFb, AZFc deletions |
|
30 infertile me
n (17 were azoo
spermic, 13 wer
e severely olig
ospermic)
|
Male infertility |
DBY
sY84
RBM1
sY127
BPY2
sY254
|
Show abstract |
| 11163833 |
Azoospermi
a
|
|
|
66 men with azo
ospermia
|
Male infertility |
DAZ
CDY1
RBM
|
Show abstract |
| 17409464 |
Azoospermi
a
|
|
Tunisia
n
|
|
Male infertility |
|
Show abstract |
| 17296183 |
Male infer
tility
|
|
|
839 (627 infert
ile men, 212 fe
rtile men)
|
Male infertility |
USP9Y
DBY
SMCY
RBM1
and DAZ
|
Show abstract |
| 17050323 |
Oligozoosp
ermia
|
|
|
|
Male infertility |
|
Show abstract |
| 11172293 |
Sertoli-ce
ll-only (S
CO) syndro
me
|
|
|
|
Male infertility |
|
Show abstract |
| 9781447 |
Azoospermi
a
|
|
|
|
Male infertility |
|
Show abstract |
| 8864744 |
Azoospermi
a, severe
oligozoosp
ermia
|
|
|
153 men with az
oospermia or se
vere oligozoosp
ermia whose Y c
hromosomes were
cytogeneticall
y normal
|
Male infertility |
YRRM1
DAZ
SMCY
|
Show abstract |
| 7661932 |
Azoospermi
a
|
|
Japanes
e
|
63 men with eit
her azoospermia
or severe olig
ospermia
|
Male infertility |
|
Show abstract |
| 15051956 |
Associated
with sper
m developm
ent
|
|
|
|
Male infertility |
|
Show abstract |
| 14996997 |
Involvemen
t in early
stages of
speramtog
enesis
|
|
|
|
Male infertility |
|
Show abstract |
| 11554984 |
May be inv
olved in R
NA process
ing, such
as RNA spl
icing or R
NA export
which are
events nec
essary for
normal sp
ermatogene
sis
|
|
|
|
Male infertility |
|
Show abstract |
| 28498920 |
Asthenozoo
spermia, M
ale infert
ility
|
Copy number variations |
|
3127 (486 ferti
le males, 2641
males with know
n spermatogenes
is status, 1070
Y-chromosome h
aplogroup (Y-hg
) O3* or O3e ca
rriers without
chromosomal abe
rration or know
n AZF structure
mutations resp
onsible for spe
rmatogenic impa
irment, includi
ng 506 men with
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
|