• Gene id: 340719

Gene Summary

• Gene Symbol: NANOS1   Gene   UCSC   Ensembl
• Aliases: EC_Rep1a, NOS-1, NOS1, SPGF12, ZC2HC12A
• Gene name: nanos C2HC-type zinc finger 1
• Alternate names: nanos homolog 1,
• Gene location: 10q26.11 (119029715: 119033731)     Exons: 1     NC_000010.11
• Gene summary(Entrez): This gene encodes a CCHC-type zinc finger protein that is a member of the nanos family. This protein co-localizes with the RNA-binding protein pumilio RNA-binding family member 2 and may be involved in regulating translation as a post-transcriptional repr
• OMIM: 608226

SNPs

rs587777031

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000010.11   g.119030032_119030034CTC[1]
NC_000010.11   g.119030032_119030034CTC[3]
NC_000010.11   g.119030032_119030034CTC[5]
NC_000010.10   g.120789544_120789546CTC[1]
NC_000010.10   g.120789544_120789546CTC[3]
NC_000010.10   g.120789544_120789546CTC[5]
NG_0  

rs79170274

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.119030036T>A
NC_000010.11   g.119030036T>C
NC_000010.10   g.120789548T>A
NC_000010.10   g.120789548T>C
NG_050764.1   g.5321T>A
NG_050764.1   g.5321T>C
NM_199461.4   c.235T>A
NM_199461.4   c.235T>C
NM_199461.3   c.235T>A
NM_199461.3   c.235T>C
NM_199461.  

Protein Summary

• Protein general information: Q8WY41  
  • Name: Nanos homolog 1 (NOS 1) (EC_Rep1a)
  • Length: 292  
  • Mass: 30,230
• Sequence:

  MEAFPWAPRSPRRGRAPPPMALVPSARYVSAPGPAHPQPFSSWNDYLGLATLITKAVDGEPRFGCARGGNGGGGS
  PPSSSSSSCCSPHTGAGPGALGPALGPPDYDEDDDDDSDEPGSRGRYLGSALELRALELCAGPAEAGLLEERFAE
  LSPFAGRAAAVLLGCAPAAAAAATTTSEATPREERAPAWAAEPRLHAASGAAAARLLKPELQVCVFCRNNKEAMA
  LYTTHILKGPDGRVLCPVLRRYTCPLCGASGDNAHTIKYCPLSKVPPPPARPPPRSARDGPPGKKLR

• Structural information:
  • Interpro: IPR008705  IPR038129  IPR024161  
  • Prosite: PS51522
  • PDB: 4CQO
  • PDBsum: 4CQO
  • STRING: ENSP00000393275
• Other Databases: GeneCards:  NANOS1  Malacards:  NANOS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003723	RNA binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0008270	zinc ion binding	IEA	molecular function
GO:0010608	posttranscriptional regulation of gene expression	IDA	biological process
GO:0010631	epithelial cell migration	IDA	biological process
GO:0016477	cell migration	IDA	biological process
GO:0017148	negative regulation of translation	IDA	biological process
GO:0030371	translation repressor activity	ISS	molecular function
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:1900153	positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay	IDA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006417	regulation of translation	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0010608	posttranscriptional regulation of gene expression	IDA	biological process
GO:0010631	epithelial cell migration	IDA	biological process
GO:0016477	cell migration	IDA	biological process
GO:0017148	negative regulation of translation	IDA	biological process
GO:0030371	translation repressor activity	ISS	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:1900153	positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0010608	posttranscriptional regulation of gene expression	IDA	biological process
GO:0010631	epithelial cell migration	IDA	biological process
GO:0016477	cell migration	IDA	biological process
GO:0017148	negative regulation of translation	IDA	biological process
GO:0030371	translation repressor activity	ISS	molecular function
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:1900153	positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay	IDA	biological process

Diseases

Associated diseases	References
Azoospermia	MIK: 23320086
Oligozoospermia	MIK: 23320086
Spermatogenesis defects	MIK: 23320086
Spermatogenesis defects	OMIM: 608226
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Associated with lack of germ cells in testes or severe oligo-astheno-teratozoospermia	MIK: 23315541
Cryptorchidism	MIK: 28606200
Spermatogenic impairment	MIK: 32242295
Azoospermia	MIK: 23320086
Oligozoospermia	MIK: 23320086

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
23320086	Spermatogenic impairment, azoospermia, oligozoospermia	Cyp26b1 (rs2241057, rs707718), Nanos2 (rs1422627, rs9304651, rs2015728), Stra8 (rs10269148, rs17168319, rs17168337)	Han Chi nese	1102 (719 idiopathic infertile cases (201 azoospermia patients (no sperm in the ejaculate even after centrifugation), 155 oligozoospermia patients (sperm counts <20×10(6)/ml) and 363 infertility/normozoospermia subjects (sperm counts >20×10(6)/ml)), 383 c	Male infertility	CYP26B1 NANOS1 and STRA8
23315541	Associated with lack of germ cells in testes or severe oligo-astheno-teratozoospermia	p.Pro77_Ser78delinsPro and p.Ala173del, p.[(Arg246His; Arg276Tyr)]		195 patients manifesting non-obstructive azoospermia or oligozoospermia	Male infertility
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
32242295	Spermatogenic impairment	c.235 T>A, p.Ser79Thr rs79170274	Caucasi an	1100 subjects	Male infertility