Endometriosis Knowledgebase

Search Result

Gene id

10656

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

KHDRBS3 Gene UCSC Ensembl

Aliases

Etle, SALP, SLM-2, SLM2, T-STAR, TSTAR, etoile

Gene name

KH RNA binding domain containing, signal transduction associated 3

Alternate names

KH domain-containing, RNA-binding, signal transduction-associated protein 3, KH domain containing, RNA binding, signal transduction associated 3, RNA-binding protein T-Star, Sam68-like phosphotyrosine protein, T-STAR, sam68-like mammalian protein 2,

Gene location

8q24.23 (135457460: 135656515) Exons: 16 NC_000008.11

OMIM

610421

Protein Summary

Protein general information

O75525

Name: KH domain containing, RNA binding, signal transduction associated protein 3 (RNA binding protein T Star) (Sam68 like mammalian protein 2) (SLM 2) (Sam68 like phosphotyrosine protein)

Length: 346 Mass: 38,800

Tissue specificity: Ubiquitous with higher expression in testis, skeletal muscle and brain. Expressed in the kidney only in podocytes, the glomerular epithelial cells of the kidney. Strongly expressed after meiosis. {ECO

Sequence

MEEKYLPELMAEKDSLDPSFTHALRLVNQEIEKFQKGEGKDEEKYIDVVINKNMKLGQKVLIPVKQFPKFNFVGK
LLGPRGNSLKRLQEETLTKMSILGKGSMRDKAKEEELRKSGEAKYFHLNDDLHVLIEVFAPPAEAYARMGHALEE
IKKFLIPDYNDEIRQAQLQELTYLNGGSENADVPVVRGKPTLRTRGVPAPAITRGRGGVTARPVGVVVPRGTPTP
RGVLSTRGPVSRGRGLLTPRARGVPPTGYRPPPPPPTQETYGEYDYDDGYGTAYDEQSYDSYDNSYSTPAQSGAD
YYDYGHGLSEETYDSYGQEEWTNSRHKAPSARTAKGVYRDQPYGRY

Structural information

Protein Domains	KH. (61-127)
Interpro:	IPR004087 IPR004088 IPR032571 IPR032335
Pfam:	PF00013 PF16274 PF16568
PDB:	5EL3 5ELR 5ELS 5ELT 5EMO
PDBsum:	5EL3 5ELR 5ELS 5ELT 5EMO
MINT:	1411200
STRING:	ENSP00000348108;

Other Databases

GeneCards: KHDRBS3; Malacards: KHDRBS3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003723	RNA binding	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	TAS	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0007283	spermatogenesis	TAS	biological_process
GO:0017124	SH3 domain binding	IEA	molecular_function
GO:0044822	poly(A) RNA binding	IDA	molecular_function
GO:0003676	nucleic acid binding	IEA	molecular_function
GO:0003723	RNA binding	IEA	molecular_function
GO:0003723	RNA binding	IEA	molecular_function
GO:0003723	RNA binding	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	TAS	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0007283	spermatogenesis	TAS	biological_process
GO:0017124	SH3 domain binding	IEA	molecular_function
GO:0044822	poly(A) RNA binding	IDA	molecular_function
GO:0003723	RNA binding	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	TAS	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0007283	spermatogenesis	TAS	biological_process
GO:0044822	poly(A) RNA binding	IDA	molecular_function

Diseases

Associated diseases	References
Endometriosis	PMID: 12810542
Epilepsy	PMID: 12921630
Implantation failure	PMID: 12810542
Polycystic ovary syndrome (PCOS)	PMID: 25574032
Female infertility	INFBASE12810542
Implantation defects	INFBASE12810542
Endometriosis	INFBASE12810542

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
12810542	Endometrio sis					IL-15 proline-rich protein B61 Dickkopf-1 glycodelin N-acetylglucosamine-6-O-sulfotransferase G0S2 protein purine nucleoside phosphorylase semaphorin E neuronal olfactomedin-related endoplasmic reticulum localized protein mRNA Sam68-like phospho	Show abstract