FertilityOnline | Spermatogenes

Detail Information of SG000028

General information

SG ID

SG000028

Gene Name

KHDRBS1

Gene Synonyms/Alias

Sam68, p62, p68

Organism

Homo sapiens

NCBI Taxonomy ID

9606

Ensembl Gene ID

ENSG00000121774

Ensembl Protein ID

ENSP00000313829 ENSP00000417731

Description

KH RNA binding domain containing, signal transduction associated 1 [Homo sapiens (human)]

Orthology

Species	Uniprot	Gene stable ID	Gene Name
Mus musculus	Q60749	MGI:893579	Khdrbs1
Rattus norvegicus	Q91V33	RGD:621459	Khdrbs1
Gallus gallus	Q8UUW7	Gene:KHDRBS1	KHDRBS1

More Orthology >>

Status

Reviewed functional gene

Functional information

Function in Stage

meiotic

Function in Cell Type

Spermatocyte

The information of related literature

1. Abstract
OBJECTIVE OBJECTIVE PMID: [24794312]

Figures for illustrating the function of this protein/gene

Li, L. J., Zhang, F. B., Liu, S. Y., Tian, Y. H., Le, F., Lou, H. Y., Huang, H. F. and Jin, F. (2014) Decreased expression of SAM68 in human testes with spermatogenic defects. Fertil Steril 102(1): 61-67 e3. PMID: [24794312]

Functional description

Sam68 (Src-associated substrate in mitosis of 68 kD, also known as KH-DRBS1) belongs to the STAR (signal transduction and activation of RNA) family of RNA-binding proteins, which regulate a range of processes, including RNA stability, export, splicing, and mRNA translation. Reproductive phenotype of Sam68 knockout mice revealed that males are completely infertile. Deficiency of SAM68 expression in the human testis is associated with MA at the spermatocyte stage and SCOS.

Protein complex

Complex name	Subunits(UniProt IDs)	Functional comment
ASPP1-SAM68 complex	Q07666 Q96KQ4	The authors suggest that the interaction of ASPP1 with nuclear SAM68 is spatially restricted to human spermatogenesis.
Sam68-p85 P13K-IRS-1-IR signaling complex	P06213 P35568 Q07666 P27986	The authors found that Sam68 is tyrosine phosphorylated and associates with p85 PI3K after insulin stimulation in a complex that also contains IRS-1 and the IR itself. Further they demonstrated that Sam68 relocalizes after insulin stimulation from the nucleus to the cytoplasm. Regarding the association of Sam68 with p120GAP it is concluded that Sam68 is linking p120GAP to P13K signaling pathway.
Sam68-p120GAP complex	Q07666 P20936	The authors suggest that Sam68 is associated with p120GAP after insulin stimulation and in this way it links GAP to the PI3K pathway. Further they demonstrated that Sam68 relocalizes after insulin stimulation from the nucleus to the cytoplasm.

Pathway

ReactomeID: R-HSA-8849468
PTK6 Regulates Proteins Involved in RNA Processing

Human diseases

OMIM

602489

Spermatogenesis failure

SCO

Expression and location

Tissue specificity (in Homo sapiens)	Expressed highest in ovary
Testicular Cell specificity (in Mus musculus)	Expressed highest in spermatogonium
Testicular scRNA-seq (in Homo sapiens)	View detail
Testicular scRNA-seq (in Mus musculus)	View detail
Subcellular location	Nucleus

Mutation

Variants founded in public databases	1000G (Phase 3): 835 ESP6500 (SI-V2): 58 ExAC (r0.3.1): 313 dbSNP(Build 147): 1907
Variants founded in in-house datasets	Chinese health control (254): European health control (283): Chinese patients (168):
De novo Mutation Rate	Gene Name: KHDRBS1 DNMR-average: 0.00002052 DNMR-SC: 0.0000180509

Other information

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Sub-Ontologies	Accession	Term	Evidence
Biological Process	GO:0000086	G2/M transition of mitotic cell cycle	ISS
Biological Process	GO:0006351	transcription, DNA-templated	IEA
Biological Process	GO:0006355	regulation of transcription, DNA-templated	IEA
Biological Process	GO:0006397	mRNA processing	TAS
Biological Process	GO:0007049	cell cycle	IEA
Biological Process	GO:0007050	cell cycle arrest	TAS
Biological Process	GO:0007165	signal transduction	TAS
Biological Process	GO:0007166	cell surface receptor signaling pathway	IDA
Biological Process	GO:0008283	cell proliferation	TAS
Biological Process	GO:0009967	positive regulation of signal transduction	IEA
Biological Process	GO:0045892	negative regulation of transcription, DNA-templated	IEA
Biological Process	GO:0045948	positive regulation of translational initiation	IDA
Biological Process	GO:0046831	regulation of RNA export from nucleus	IEA
Biological Process	GO:0046833	positive regulation of RNA export from nucleus	IDA
Biological Process	GO:0048024	regulation of mRNA splicing, via spliceosome	IEA
Cellular Component	GO:0005634	nucleus	IEA
Cellular Component	GO:0005654	nucleoplasm	TAS
Cellular Component	GO:0005737	cytoplasm	IEA
Cellular Component	GO:0005829	cytosol	TAS
Cellular Component	GO:0016020	membrane	IEA
Cellular Component	GO:0070618	Grb2-Sos complex	IEA
Molecular Function	GO:0003676	nucleic acid binding	IEA
Molecular Function	GO:0003677	DNA binding	TAS
Molecular Function	GO:0003723	RNA binding	IEA
Molecular Function	GO:0005070	SH3/SH2 adaptor activity	IPI
Molecular Function	GO:0005515	protein binding	IPI
Molecular Function	GO:0008143	poly(A) binding	IDA
Molecular Function	GO:0008266	poly(U) RNA binding	IDA
Molecular Function	GO:0017124	SH3 domain binding	IEA
Molecular Function	GO:0032403	protein complex binding	IEA
Molecular Function	GO:0042802	identical protein binding	IPI

Protein-Protein interaction information

Protein A	Gene name A	Protein B	Gene name B	Evidence
ENSMUSP00000066516	Khdrbs1	ENSMUSP00000066554	Epha3	experimental
ENSMUSP00000066516	Khdrbs1	ENSMUSP00000066639	Pabpc2	experimental
ENSMUSP00000066516	Khdrbs1	ENSMUSP00000066734	Epha6	experimental

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Protein family and Domain

Q07666