FertilityOnline | Spermatogenes

Detail Information of SG000231

General information

SG ID

SG000231

Gene Name

Dhx36

Gene Synonyms/Alias

Ddx36, AI452301, AU022184, mKIAA1488, 2810407E23Rik

Organism

Mus musculus

NCBI Taxonomy ID

10090

Ensembl Gene ID

ENSMUSG00000027770

Ensembl Protein ID

ENSMUSP00000029336

Description

DEAH (Asp-Glu-Ala-His) box polypeptide 36 [Mus musculus(house mouse) ]

Orthology

Species	Uniprot	Gene stable ID	Gene Name
Rattus norvegicus	D4A2Z8	RGD:1308767	Dhx36
Gallus gallus	E1C550	Ensembl:ENSGALG00000010344	-
Danio rerio	A3KQN8	ZFIN:ZDB-GENE-050419-20	dhx36

More Orthology >>

Status

Reviewed functional gene

Functional information

Function in Stage	premeiotic
Function in Cell Type	Spermatogonia
The information of related literature	1. Abstract G-quadruplex (G4) DNA and G4 DNA resolvase are involved in a variety of biological processes. To understand the biological function of G4 DNA structures and their resolvases in spermatogenesis, we investigated ... PMID: [25611385]
Figures for illustrating the function of this protein/gene	Gao, X., Ma, W., Nie, J., Zhang, C., Zhang, J., Yao, G., Han, J., Xu, J., Hu, B., Du, Y., Shi, Q., Yang, Z., Huang, X. and Zhang, Y. (2015) A G-quadruplex DNA structure resolvase, RHAU, is essential for spermatogonia differentiation. Cell Death Dis 6(): e1610. PMID: [25611385] Gao, X., Ma, W., Nie, J., Zhang, C., Zhang, J., Yao, G., Han, J., Xu, J., Hu, B., Du, Y., Shi, Q., Yang, Z., Huang, X. and Zhang, Y. (2015) A G-quadruplex DNA structure resolvase, RHAU, is essential for spermatogonia differentiation. Cell Death Dis 6(): e1610. PMID: [25611385] Gao, X., Ma, W., Nie, J., Zhang, C., Zhang, J., Yao, G., Han, J., Xu, J., Hu, B., Du, Y., Shi, Q., Yang, Z., Huang, X. and Zhang, Y. (2015) A G-quadruplex DNA structure resolvase, RHAU, is essential for spermatogonia differentiation. Cell Death Dis 6(): e1610. PMID: [25611385] Gao, X., Ma, W., Nie, J., Zhang, C., Zhang, J., Yao, G., Han, J., Xu, J., Hu, B., Du, Y., Shi, Q., Yang, Z., Huang, X. and Zhang, Y. (2015) A G-quadruplex DNA structure resolvase, RHAU, is essential for spermatogonia differentiation. Cell Death Dis 6(): e1610. PMID: [25611385] Gao, X., Ma, W., Nie, J., Zhang, C., Zhang, J., Yao, G., Han, J., Xu, J., Hu, B., Du, Y., Shi, Q., Yang, Z., Huang, X. and Zhang, Y. (2015) A G-quadruplex DNA structure resolvase, RHAU, is essential for spermatogonia differentiation. Cell Death Dis 6(): e1610. PMID: [25611385] Gao, X., Ma, W., Nie, J., Zhang, C., Zhang, J., Yao, G., Han, J., Xu, J., Hu, B., Du, Y., Shi, Q., Yang, Z., Huang, X. and Zhang, Y. (2015) A G-quadruplex DNA structure resolvase, RHAU, is essential for spermatogonia differentiation. Cell Death Dis 6(): e1610. PMID: [25611385] Gao, X., Ma, W., Nie, J., Zhang, C., Zhang, J., Yao, G., Han, J., Xu, J., Hu, B., Du, Y., Shi, Q., Yang, Z., Huang, X. and Zhang, Y. (2015) A G-quadruplex DNA structure resolvase, RHAU, is essential for spermatogonia differentiation. Cell Death Dis 6(): e1610. PMID: [25611385] Gao, X., Ma, W., Nie, J., Zhang, C., Zhang, J., Yao, G., Han, J., Xu, J., Hu, B., Du, Y., Shi, Q., Yang, Z., Huang, X. and Zhang, Y. (2015) A G-quadruplex DNA structure resolvase, RHAU, is essential for spermatogonia differentiation. Cell Death Dis 6(): e1610. PMID: [25611385] Gao, X., Ma, W., Nie, J., Zhang, C., Zhang, J., Yao, G., Han, J., Xu, J., Hu, B., Du, Y., Shi, Q., Yang, Z., Huang, X. and Zhang, Y. (2015) A G-quadruplex DNA structure resolvase, RHAU, is essential for spermatogonia differentiation. Cell Death Dis 6(): e1610. PMID: [25611385] Gao, X., Ma, W., Nie, J., Zhang, C., Zhang, J., Yao, G., Han, J., Xu, J., Hu, B., Du, Y., Shi, Q., Yang, Z., Huang, X. and Zhang, Y. (2015) A G-quadruplex DNA structure resolvase, RHAU, is essential for spermatogonia differentiation. Cell Death Dis 6(): e1610. PMID: [25611385] Gao, X., Ma, W., Nie, J., Zhang, C., Zhang, J., Yao, G., Han, J., Xu, J., Hu, B., Du, Y., Shi, Q., Yang, Z., Huang, X. and Zhang, Y. (2015) A G-quadruplex DNA structure resolvase, RHAU, is essential for spermatogonia differentiation. Cell Death Dis 6(): e1610. PMID: [25611385] Gao, X., Ma, W., Nie, J., Zhang, C., Zhang, J., Yao, G., Han, J., Xu, J., Hu, B., Du, Y., Shi, Q., Yang, Z., Huang, X. and Zhang, Y. (2015) A G-quadruplex DNA structure resolvase, RHAU, is essential for spermatogonia differentiation. Cell Death Dis 6(): e1610. PMID: [25611385]
Functional description	RNA helicase associated with AU-rich element (RHAU; alias DHX36, G4R1), a highly conserved gene, is highly expressed in human testis. Ablation of RHAU in germ cells caused the increase of G4 structures and thus resulted in the decrease of spermatogonial differentiation
Protein complex
Pathway	ReactomeID: R-MMU-975110 TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling
Human diseases
OMIM
Spermatogenesis failure	N/A

Expression and location

Tissue specificity (in Homo sapiens)	Expressed highest in testis
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 in human orthology

Variants founded in public databases

1000G (Phase 3): 1409 ESP6500 (SI-V2): 178 ExAC (r0.3.1): 1003 dbSNP(Build 147): 3500

Variants founded in in-house datasets

Chinese health control (254): 11 European health control (283): 7 Chinese patients (168):

De novo Mutation Rate

Gene Name	DNMR-average	DNMR-SC
DHX36	0.000040265	0.0000407279

Other information

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Sub-Ontologies	Accession	Term	Evidence
Biological Process	GO:0001503	ossification	IMP
Biological Process	GO:0006351	transcription, DNA-templated	IEA
Biological Process	GO:0006355	regulation of transcription, DNA-templated	IEA
Biological Process	GO:0006396	RNA processing	IBA
Biological Process	GO:0009615	response to virus	IMP
Biological Process	GO:0010501	RNA secondary structure unwinding	ISS
Biological Process	GO:0032206	positive regulation of telomere maintenance	ISS
Biological Process	GO:0043330	response to exogenous dsRNA	IMP
Biological Process	GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA
Biological Process	GO:0090669	telomerase RNA stabilization	ISO
Cellular Component	GO:0000781	chromosome, telomeric region	IEA
Cellular Component	GO:0005634	nucleus	IEA
Cellular Component	GO:0005694	chromosome	IEA
Cellular Component	GO:0005737	cytoplasm	IBA
Cellular Component	GO:0005829	cytosol	ISO
Cellular Component	GO:0070062	extracellular exosome	ISO
Molecular Function	GO:0000166	nucleotide binding	IEA
Molecular Function	GO:0001047	core promoter binding	ISS
Molecular Function	GO:0002151	G-quadruplex RNA binding	ISS
Molecular Function	GO:0003676	nucleic acid binding	IEA
Molecular Function	GO:0003677	DNA binding	IEA
Molecular Function	GO:0003723	RNA binding	IEA
Molecular Function	GO:0003725	double-stranded RNA binding	IEA
Molecular Function	GO:0004004	ATP-dependent RNA helicase activity	IBA
Molecular Function	GO:0004386	helicase activity	IEA
Molecular Function	GO:0005515	protein binding	IPI
Molecular Function	GO:0005524	ATP binding	IEA
Molecular Function	GO:0008026	ATP-dependent helicase activity	IEA
Molecular Function	GO:0008094	DNA-dependent ATPase activity	ISS
Molecular Function	GO:0016787	hydrolase activity	IEA
Molecular Function	GO:0042826	histone deacetylase binding	IDA
Molecular Function	GO:0044212	transcription regulatory region DNA binding	IDA
Molecular Function	GO:0051880	G-quadruplex DNA binding	ISS
Molecular Function	GO:0070034	telomerase RNA binding	ISO

Protein-Protein interaction information

Protein A	Gene name A	Protein B	Gene name B	Evidence
ENSMUSP00000029336	Dhx36	ENSMUSP00000029358	Nmd3	predicted
ENSMUSP00000029336	Dhx36	ENSMUSP00000029382	Ppid	experimental
ENSMUSP00000029336	Dhx36	ENSMUSP00000029387	Eif2a	predicted

More PPIs >>

Protein family and Domain

Q8VHK9