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    NANOS1 nanos C2HC-type zinc finger 1 [ Homo sapiens (human) ]

    Gene ID: 340719, updated on 2-Nov-2024

    Summary

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    Official Symbol
    NANOS1provided by HGNC
    Official Full Name
    nanos C2HC-type zinc finger 1provided by HGNC
    Primary source
    HGNC:HGNC:23044
    See related
    Ensembl:ENSG00000188613 MIM:608226; AllianceGenome:HGNC:23044
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NOS1; NOS-1; SPGF12; EC_Rep1a; ZC2HC12A
    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 repressor. Mutations in this gene are associated with spermatogenic impairment. [provided by RefSeq, Sep 2015]
    Orthologs
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    Genomic context

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    See NANOS1 in Genome Data Viewer
    Location:
    10q26.11
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (119029714..119033730)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (119925128..119929140)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (120789226..120793242)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 3036 Neighboring gene ribosomal protein L17 pseudogene 36 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:120654814-120655422 Neighboring gene lactate dehydrogenase A pseudogene 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:120718457-120719187 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:120719188-120719917 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:120781819-120782461 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:120782462-120783104 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:120784290-120784863 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:120788503-120789003 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2865 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2866 Neighboring gene small nucleolar RNA SNORA19 Neighboring gene eukaryotic translation initiation factor 3 subunit A Neighboring gene small nucleolar RNA, H/ACA box 19

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Mutations of NANOS1, a human homologue of the Drosophila morphogen, are associated with a lack of germ cells in testes or severe oligo-astheno-teratozoospermia. Kusz-Zamelczyk K, et al. J Med Genet, 2013 Mar. PMID 23315541
    2. Genetic variants in meiotic program initiation pathway genes are associated with spermatogenic impairment in a Han Chinese population. Lu C, et al. PLoS One, 2013. PMID 23320086, Free PMC Article
    3. NANOS1 and PUMILIO2 bind microRNA biogenesis factor GEMIN3, within chromatoid body in human germ cells. Ginter-Matuszewska B, et al. Histochem Cell Biol, 2011 Sep. PMID 21800163
    4. Time-lapse analysis reveals different modes of primordial germ cell migration in the medaka Oryzias latipes. Kurokawa H, et al. Dev Growth Differ, 2006 Apr. PMID 16573738
    5. The E-cadherin-repressed hNanos1 gene induces tumor cell invasion by upregulating MT1-MMP expression. Bonnomet A, et al. Oncogene, 2008 Jun 12. PMID 18223680

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. High NANOS expression is associated with retinoblastoma.
      Title: Post-transcriptional gene expression control by NANOS is up-regulated and functionally important in pRb-deficient cells.
    2. A group of 195 patients manifesting non-obstructive azoospermia or oligozoospermia were tested for mutations of the NANOS1 gene.
      Title: Mutations of NANOS1, a human homologue of the Drosophila morphogen, are associated with a lack of germ cells in testes or severe oligo-astheno-teratozoospermia.
    3. Single nucleotide polymorphisms in CYP26B1, NANOS1 and STRA8 genes support involvement of meiotic program initiation in modifying azoospermia and oligozoospermia risk in a Han-Chinese population
      Title: Genetic variants in meiotic program initiation pathway genes are associated with spermatogenic impairment in a Han Chinese population.
    4. NANOS1-PUMILIO2 complex, together with GEMIN3 and small noncoding RNAs, possibly regulate mRNA translation within the chromatoid body of the human germ cells.
      Title: NANOS1 and PUMILIO2 bind microRNA biogenesis factor GEMIN3, within chromatoid body in human germ cells.
    5. Data demonstrated that SNAPIN interacts additionally with NANOS1 protein. This is the first report demonstrating that the N-terminal region of NANOS1 is necessary for protein binding.
      Title: The SNARE-associated component SNAPIN binds PUMILIO2 and NANOS1 proteins in human male germ cells.
    6. The E-cadherin-repressed hNanos1 gene induces tumor cell invasion by upregulating MT1-MMP expression.
      Title: The E-cadherin-repressed hNanos1 gene induces tumor cell invasion by upregulating MT1-MMP expression.
    7. Findings describe a new function for hNanos1 as a downstream effector of E-cadherin loss contributing to tumor progression.
      Title: E-cadherin regulates human Nanos1, which interacts with p120ctn and induces tumor cell migration and invasion.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Spermatogenic failure 12
    MedGen: C3809427 OMIM: 615413 GeneReviews: Not available
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    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enzyme activator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables translation repressor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell migration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cerebellar neuron development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in epithelial cell migration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mRNA destabilization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of translation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of translation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in oogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within post-transcriptional regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of cell growth IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in tissue homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in perinuclear region of cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    nanos homolog 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_050764.1 RefSeqGene

      Range
      4999..9015
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_199461.4 → NP_955631.1  nanos homolog 1

      See identical proteins and their annotated locations for NP_955631.1

      Status: REVIEWED

      Source sequence(s)
      AF458985, AL157788
      Consensus CDS
      CCDS7607.1
      UniProtKB/Swiss-Prot
      Q8WY41
      Related
      ENSP00000393275.1, ENST00000425699.3
      Conserved Domains (1) summary
      pfam05741
      Location:214 → 266
      zf-nanos; Nanos RNA binding domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      119029714..119033730
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      119925128..119929140
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001009553.1: Suppressed sequence

      Description
      NM_001009553.1: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WY41.2 GenPept UniProtKB/Swiss-Prot:Q8WY41

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Other Literature Sources
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