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This gene encodes a member of the K homology domain-containing, RNA-binding, signal transduction-associated protein family. The encoded protein appears to have many functions and may be involved in a variety of cellular processes, including alternative splicing, cell cycle regulation, RNA 3'-end formation, tumorigenesis, and regulation of human immunodeficiency virus gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
KHDRBS1 (KH RNA Binding Domain Containing, Signal Transduction Associated 1) is a Protein Coding gene. Diseases associated with KHDRBS1 include Premature Menopause and Premature Ovarian Failure 1. Among its related pathways are Signaling by GPCR and Translational Control. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and identical protein binding. An important paralog of this gene is KHDRBS2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003677 | DNA binding | TAS | 1374686 |
GO:0003723 | RNA binding | IDA | 1374686 |
GO:0003729 | mRNA binding | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 7537265 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA,IDA | 1374686 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | IEA,IDA | 29496907 |
GO:0005829 | cytosol | TAS | -- |
GO:0016020 | membrane | IEA,IDA | 1374686 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Signaling by PTK6 | ||
2 | Translational Control | ||
3 | Signaling by GPCR | ||
4 | Prolactin Signaling Pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000082 | G1/S transition of mitotic cell cycle | TAS | 9013542 |
GO:0000086 | G2/M transition of mitotic cell cycle | ISS | -- |
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
GO:0000381 | regulation of alternative mRNA splicing, via spliceosome | IDA | 24514149 |
GO:0006397 | mRNA processing | TAS,IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | · | 9c | · | 9d | · | 9e | ^ | 10 | ^ | 11 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KHDRBS1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KHDRBS1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KHDRBS1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Khdrbs1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Khdrbs1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | KHDRBS1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | KHDRBS1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | KHDRBS1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | khdrbs1 30 |
|
||
Str.20538 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | LOC398660 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | khdrbs1b 30 31 |
|
OneToMany | |
khdrbs1a 31 |
|
OneToMany | |||
-- 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG3875 32 |
|
|
|
qkr54B 31 32 |
|
ManyToMany | |||
CG3927 31 32 |
|
ManyToMany | |||
qkr58E-1 31 32 |
|
ManyToMany | |||
qkr58E-3 31 32 |
|
ManyToMany | |||
CG4021 31 32 |
|
ManyToMany | |||
nsr 31 |
|
ManyToMany | |||
qkr58E-2 31 32 |
|
ManyToMany | |||
CG10384 31 32 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | K07H8.9 31 |
|
ManyToMany | |
Y69A2AR.32 31 |
|
ManyToMany | |||
Y57G11C.36 31 |
|
ManyToMany | |||
F54D1.1 31 |
|
ManyToMany | |||
B0280.17 31 |
|
ManyToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MSL5 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.11338 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
929733 | Likely Pathogenic: Premature ovarian failure | 32,042,554(+) |
C/T NM_006559.3(KHDRBS1):c.1262C>T (p.Pro421Leu) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1009817 | CNV | gain | 25217958 |
nsv834591 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
premature menopause |
|
|
premature ovarian failure 1 |
|
|
x-linked hereditary ataxia |
|
|
fragile x-associated tremor/ataxia syndrome |
|
|
spinal muscular atrophy |
|
|