Gene Gene information from NCBI Gene database.
Entrez ID 340719
Gene name Nanos C2HC-type zinc finger 1
Gene symbol NANOS1
Synonyms (NCBI Gene)
EC_Rep1aNOS-1NOS1SPGF12ZC2HC12A
Chromosome 10
Chromosome location 10q26.11
Summary 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.
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.
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608226 23044 ENSG00000188613
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
CPVLRRYTCPLCGASGDNAHTIKYCPL
SKVPPPPARPPPRSARDGPPGKKLR
Sequence length 292
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Spermatogenic failure 12 Pathogenic rs538539239 RCV000055618
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION CTD, Disgenet, Orphanet
CTD, Disgenet, Orphanet
CTD, Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NANOS1-related disorder Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 19574086, 23937241, 24079724, 25684509, 8986967
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer GWASCAT_DG 26151821, 29917119
★☆☆☆☆
Found in Text Mining only
Adenoid Cystic Carcinoma Adenocarcinoma BEFREE 19574086, 23835861, 23937241
★☆☆☆☆
Found in Text Mining only
Adenoma, Basal Cell Adenoma BEFREE 23937241, 8986967
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 19423521, 31287335
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 28290003
★☆☆☆☆
Found in Text Mining only
Adult Oligodendroglioma Oligodendroglioma BEFREE 28801347, 29470683
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 23342278, 23568283
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 23937241
★☆☆☆☆
Found in Text Mining only
Alveolar rhabdomyosarcoma Alveolar Rhabdomyosarcoma BEFREE 18303411
★☆☆☆☆
Found in Text Mining only