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    SPACA1 sperm acrosome associated 1 [ Homo sapiens (human) ]

    Gene ID: 81833, updated on 19-Sep-2021

    Summary

    Official Symbol
    SPACA1provided by HGNC
    Official Full Name
    sperm acrosome associated 1provided by HGNC
    Primary source
    HGNC:HGNC:14967
    See related
    Ensembl:ENSG00000118434 MIM:612739
    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
    SAMP32
    Summary
    The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm antibodies from infertile males. Furthermore, antibodies generated against the recombinant protein block in vitro fertilization. This protein localizes to the acrosomal membrane of spermatids and mature spermatozoa where it is thought to play a role in acrosomal morphogenesis and in sperm-egg binding and fusion, respectively. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward testis (RPKM 11.4) See more
    Orthologs
    NEW
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    Genomic context

    See SPACA1 in Genome Data Viewer
    Location:
    6q15
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (88046907..88066838)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (88757559..88776556)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377882 Neighboring gene uncharacterized LOC107986541 Neighboring gene cannabinoid receptor 1 Neighboring gene ribosomal protein S14 pseudogene 9

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.
    GeneReviews: Not available

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC32952

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in acrosome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in acrosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in inner acrosomal membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    sperm acrosome membrane-associated protein 1
    Names
    sperm acrosomal membrane-associated protein 32

    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.

    mRNA and Protein(s)

    1. NM_030960.3NP_112222.1  sperm acrosome membrane-associated protein 1 precursor

      See identical proteins and their annotated locations for NP_112222.1

      Status: VALIDATED

      Source sequence(s)
      AF203447, AL136096, BC029488
      Consensus CDS
      CCDS5014.1
      UniProtKB/Swiss-Prot
      Q9HBV2
      Related
      ENSP00000237201.1, ENST00000237201.2
      Conserved Domains (1) summary
      cd13783
      Location:31275
      SPACA1; Sperm acrosome membrane-associated protein 1

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

      Range
      88046907..88066838
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536160.2XP_011534462.1  sperm acrosome membrane-associated protein 1 isoform X1

      Conserved Domains (1) summary
      cd13783
      Location:1193
      SPACA1; Sperm acrosome membrane-associated protein 1
    2. XM_017011335.1XP_016866824.1  sperm acrosome membrane-associated protein 1 isoform X1

      Conserved Domains (1) summary
      cd13783
      Location:1193
      SPACA1; Sperm acrosome membrane-associated protein 1

    RNA

    1. XR_241854.5 RNA Sequence

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