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    SPANXN3 SPANX family member N3 [ Homo sapiens (human) ]

    Gene ID: 139067, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SPANXN3provided by HGNC
    Official Full Name
    SPANX family member N3provided by HGNC
    Primary source
    HGNC:HGNC:33176
    See related
    Ensembl:ENSG00000189252 MIM:300666; AllianceGenome:HGNC:33176
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CT11.8; SPANX-N3
    Expression
    Restricted expression toward testis (RPKM 9.9) See more
    Orthologs
    all
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    Genomic context

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    See SPANXN3 in Genome Data Viewer
    Location:
    Xq27.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (143508735..143517475, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (141818043..141826783, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (142596564..142605303, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene MT-ND1 pseudogene 33 Neighboring gene MT-ND2 pseudogene 39 Neighboring gene MYCL pseudogene 3 Neighboring gene SLIT and NTRK like family member 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Hominoid-specific SPANXA/D genes demonstrate differential expression in individuals and protein localization to a distinct nuclear envelope domain during spermatid morphogenesis. Westbrook VA, et al. Mol Hum Reprod, 2006 Nov. PMID 17012309
    2. The SPANX gene family of cancer/testis-specific antigens: rapid evolution and amplification in African great apes and hominids. Kouprina N, et al. Proc Natl Acad Sci U S A, 2004 Mar 2. PMID 14973187, Free PMC Article
    3. Comparison of substrate specificity of the ubiquitin ligases Nedd4 and Nedd4-2 using proteome arrays. Persaud A, et al. Mol Syst Biol, 2009. PMID 19953087, Free PMC Article
    4. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. Oláh J, et al. J Biol Chem, 2011 Sep 30. PMID 21832049, Free PMC Article
    5. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    sperm protein associated with the nucleus on the X chromosome N3
    Names
    cancer/testis antigen family 11, member 8
    nuclear-associated protein SPAN-Xn3

    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.

    mRNA and Protein(s)

    1. NM_001009609.4 → NP_001009609.2  sperm protein associated with the nucleus on the X chromosome N3

      See identical proteins and their annotated locations for NP_001009609.2

      Status: VALIDATED

      Source sequence(s)
      BC062750, DQ336129
      Consensus CDS
      CCDS35418.1
      UniProtKB/Swiss-Prot
      Q0ZNK4, Q5MJ09
      Related
      ENSP00000359534.2, ENST00000370503.2
      Conserved Domains (1) summary
      pfam07458
      Location:1 → 95
      SPAN-X; Sperm protein associated with nucleus, mapped to X chromosome

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      143508735..143517475 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029264.2 → XP_016884753.1  sperm protein associated with the nucleus on the X chromosome N3 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      141818043..141826783 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326454.1 → XP_054182429.1  sperm protein associated with the nucleus on the X chromosome N3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5MJ09.2 GenPept UniProtKB/Swiss-Prot:Q5MJ09

    Gene LinkOut

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

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