NANOS1 (nanos C2HC-type zinc finger 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
340719
Gene name Gene Name - the full gene name approved by the HGNC.
Nanos C2HC-type zinc finger 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NANOS1
Synonyms (NCBI Gene) Gene synonyms aliases
EC_Rep1a, NOS-1, NOS1, SPGF12, ZC2HC12A
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q26.11
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs538539239 GCCGCCGCCGCC>-,GCC,GCCGCC,GCCGCCGCC,GCCGCCGCCGCCGCC,GCCGCCGCCGCCGCCGCC,GCCGCCGCCGCCGCCGCCGCC,GCCGCCGCCGCCGCCGCCGCCGCC Pathogenic, benign Inframe deletion, coding sequence variant, inframe insertion
rs587777031 CTCCTCCTC>-,CTCCTC,CTCCTCCTCCTC Conflicting-interpretations-of-pathogenicity Coding sequence variant, inframe deletion, inframe insertion
rs587777767 G>A Pathogenic Coding sequence variant, missense variant
rs587777768 CG>TA Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(478)
miRTarBase ID miRNA Experiments Reference
MIRT037712 hsa-miR-744-5p CLASH 23622248
MIRT611330 hsa-miR-1182 HITS-CLIP 19536157
MIRT611328 hsa-miR-140-3p HITS-CLIP 19536157
MIRT614332 hsa-miR-3119 HITS-CLIP 19536157
MIRT611319 hsa-miR-3692-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(27)
GO ID Ontology Definition Evidence Reference
GO:0001558 Process Regulation of cell growth IEA
GO:0001894 Process Tissue homeostasis IEA
GO:0003723 Function RNA binding IEA
GO:0003729 Function MRNA binding IBA
GO:0005515 Function Protein binding IPI 17047063, 19168546, 21800163, 24736845
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
608226 23044 ENSG00000188613
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q8WY41
Protein name Nanos homolog 1 (NOS-1) (EC_Rep1a)
Protein function May act as a translational repressor which regulates translation of specific mRNAs by forming a complex with PUM2 that associates with the 3'-UTR of mRNA targets. Capable of interfering with the proadhesive and anti-invasive functions of E-cadhe
PDB 4CQO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05741 zf-nanos 214 → 267 Nanos RNA binding domain Family
Tissue specificity TISSUE SPECIFICITY: Testis and ovary (at protein level). Predominantly expressed in testis. Specifically expressed during germline development. In adult tissues, it is mainly expressed in spermatogonia, the stem cells of the germline. Also expressed durin
Sequence 
MEAFPWAPRSPRRGRAPPPMALVPSARYVSAPGPAHPQPFSSWNDYLGLATLITKAVDGE
PRFGCARGGNGGGGSPPSSSSSSCCSPHTGAGPGALGPALGPPDYDEDDDDDSDEPGSRG
RYLGSALELRALELCAGPAEAGLLEERFAELSPFAGRAAAVLLGCAPAAAAAATTTSEAT
PREERAPAWAAEPRLHAASGAAAARLLKPELQVCVFCRNNKEAMALYTTHILKGPDGRVL
CPVLRRYTCPLCGASGDNAHTIKYCPLSKVPPPPARPPPRSARDGPPGKKLR
Sequence length 292
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Spermatogenic Failure spermatogenic failure 12 rs538539239 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Male infertility male infertility with azoospermia or oligozoospermia due to single gene mutation N/A N/A GenCC
Show/Hide Text Mining Associations (5)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Infertility Associate 32344590
Mouth Neoplasms Associate 38401491
Neoplasm Metastasis Associate 36012673
Neoplasms Associate 36012673
Neurodegenerative Diseases Associate 32319615