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    NME8 NME/NM23 family member 8 [ Homo sapiens (human) ]

    Gene ID: 51314, updated on 10-Dec-2024

    Summary

    Official Symbol
    NME8provided by HGNC
    Official Full Name
    NME/NM23 family member 8provided by HGNC
    Primary source
    HGNC:HGNC:16473
    See related
    Ensembl:ENSG00000086288 MIM:607421; AllianceGenome:HGNC:16473
    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
    CILD6; DNAI8; SPTRX2; TXNDC3; NM23-H8; sptrx-2; HEL-S-99
    Summary
    This gene encodes a protein with an N-terminal thioredoxin domain and three C-terminal nucleoside diphosphate kinase (NDK) domains, but the NDK domains are thought to be catalytically inactive. The sea urchin ortholog of this gene encodes a component of sperm outer dynein arms, and the protein is implicated in ciliary function. Mutations in this gene are implicated in primary ciliary dyskinesia type 6.[provided by RefSeq, Nov 2009]
    Expression
    Biased expression in testis (RPKM 4.9), bone marrow (RPKM 3.6) and 3 other tissues See more
    Orthologs
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    Genomic context

    See NME8 in Genome Data Viewer
    Location:
    7p14.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (37848597..37900397)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (37989652..38041414)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (37888199..37939999)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:37843212-37843712 Neighboring gene G protein-coupled receptor 141B, pseudogene Neighboring gene CDCA3 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25863 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_98467 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18107 Neighboring gene secreted frizzled related protein 4 Neighboring gene ependymin related 1 Neighboring gene Sharpr-MPRA regulatory region 10360 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:37987061-37987582 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:37987583-37988102

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (15 hits/1246 screens)

    Associated conditions

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    EBI GWAS Catalog
    Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    General gene information

    Potential readthrough

    Included gene: EPDR1

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3'-5' exonuclease activity PubMed 
    enables microtubule binding  
    enables microtubule binding PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation  
    involved_in cellular response to reactive oxygen species  
    involved_in cilium assembly  
    acts_upstream_of_or_within cilium assembly PubMed 
    involved_in flagellated sperm motility  
    involved_in spermatogenesis  
    Component Evidence Code Pubs
    is_active_in axoneme  
    located_in axoneme  
    located_in cytoplasm PubMed 
    located_in cytoplasm  
    located_in cytosol  
    located_in nuclear speck  
    located_in nucleus PubMed 
    part_of outer dynein arm PubMed 
    located_in sperm cytoplasmic droplet  
    located_in sperm midpiece PubMed 
    is_active_in sperm principal piece  
    located_in sperm principal piece PubMed 

    General protein information

    Preferred Names
    thioredoxin domain-containing protein 3
    Names
    3'-5' exonuclease NME8
    epididymis secretory protein Li 99
    sperm-specific thioredoxin 2
    spermatid-specific thioredoxin-2
    thioredoxin domain containing 3 (spermatozoa)

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_015893.1 RefSeqGene

      Range
      5001..56801
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_016616.5 → NP_057700.3  thioredoxin domain-containing protein 3

      See identical proteins and their annotated locations for NP_057700.3

      Status: REVIEWED

      Source sequence(s)
      AF202051, BC036816
      Consensus CDS
      CCDS5452.1
      UniProtKB/Swiss-Prot
      Q8N427, Q9NZH1
      UniProtKB/TrEMBL
      A0A0K0K1K2
      Related
      ENSP00000199447.4, ENST00000199447.9
      Conserved Domains (3) summary
      smart00562
      Location:451 → 586
      NDK; Enzymes that catalyze nonsubstrate specific conversions of nucleoside diphosphates to nucleoside triphosphates
      cd02948
      Location:11 → 113
      TRX_NDPK; TRX domain, TRX and NDP-kinase (NDPK) fusion protein family; most members of this group are fusion proteins which contain one redox active TRX domain containing a CXXC motif and three NDPK domains, and are characterized as intermediate chains (ICs) of ...
      cd04416
      Location:451 → 582
      NDPk_TX; NDP kinase domain of thioredoxin domain-containing proteins (TXNDC3 and TXNDC6): Txl-2 (TXNDC6) and Sptrx-2 (TXNDC3) are fusion proteins of Group II N-terminal thioredoxin domains followed by one or three NDP kinase domains, respectively. Sptrx-2, which ...

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      37848597..37900397
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      37989652..38041414
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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