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

    Gene ID: 81833, updated on 27-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:14967
    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; SPGF85
    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
    mouse all
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    Genomic context

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    See SPACA1 in Genome Data Viewer
    Location:
    6q15
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (88046901..88066838)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (89255379..89275314)
    RS_2024_09 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 CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:88834755-88835954 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17377 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17378 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17379 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17380 Neighboring gene cannabinoid receptor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24814 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:88893112-88893675 Neighboring gene MPRA-validated peak5945 silencer Neighboring gene ribosomal protein S14 pseudogene 9

    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. Bioinformatic prediction of the structure and characteristics of human sperm acrosome membrane-associated protein 1 (hSAMP32) and evaluation of its antifertility function in vivo. Zhang T, et al. Reprod Fertil Dev, 2020 Nov. PMID 33220718
    2. Individual differences in the distribution of sperm acrosome-associated 1 proteins among male patients of infertile couples; their possible impact on outcomes of conventional in vitro fertilization. Kishida K, et al. Zygote, 2016 Oct. PMID 27185107
    3. Anti-sperm antibodies from infertile patients and their cognate sperm antigens: a review. Identity between SAGA-1, the H6-3C4 antigen, and CD52. Diekman AB, et al. Am J Reprod Immunol, 2000 Mar. PMID 10735589
    4. Mammalian sperm acrosome: formation, contents, and function. Abou-Haila A, et al. Arch Biochem Biophys, 2000 Jul 15. PMID 10898932
    5. SAMP32, a testis-specific, isoantigenic sperm acrosomal membrane-associated protein. Hao Z, et al. Biol Reprod, 2002 Mar. PMID 11870081

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Bioinformatic prediction of the structure and characteristics of human sperm acrosome membrane-associated protein 1 (hSAMP32) and evaluation of its antifertility function in vivo.
      Title: Bioinformatic prediction of the structure and characteristics of human sperm acrosome membrane-associated protein 1 (hSAMP32) and evaluation of its antifertility function in vivo.
    2. Spaca1 role in male infertility.Distribution of SPACA1 in the sperm affects the outcomes of conventional in vitro fertilization.
      Title: Individual differences in the distribution of sperm acrosome-associated 1 proteins among male patients of infertile couples; their possible impact on outcomes of conventional in vitro fertilization.
    3. Human posterior head 20 (hPH20) and homo sapiens sperm acrosome associated 1 (hSPACA1) immunocontraceptive epitopes reduced fertility in male/female mice.
      Title: Discovery of human posterior head 20 (hPH20) and homo sapiens sperm acrosome associated 1 (hSPACA1) immunocontraceptive epitopes and their effects on fertility in male and female mice.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms.
    5. SAMP32 was associated with the inner acrosomal membrane and recombinant SAMP32 reacted with serum from an infertile man suggesting that it is isoantigenic
      Title: SAMP32, a testis-specific, isoantigenic sperm acrosomal membrane-associated protein.
    Submit: New GeneRIF Correction

    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

    Associated conditions

    Description Tests
    Spermatogenic failure 85
    MedGen: C5882685 OMIM: 620490 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.
    EBI GWAS Catalog

    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

    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
    		  
    Component Evidence Code Pubs
    is_active_in acrosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in inner acrosomal membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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

    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_030960.3 → NP_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:31 → 275
      SPACA1; Sperm acrosome membrane-associated protein 1

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      88046901..88066838
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536160.3 → XP_011534462.1  sperm acrosome membrane-associated protein 1 isoform X2

      Conserved Domains (1) summary
      cd13783
      Location:1 → 193
      SPACA1; Sperm acrosome membrane-associated protein 1

    2. XM_017011335.2 → XP_016866824.1  sperm acrosome membrane-associated protein 1 isoform X2

      Conserved Domains (1) summary
      cd13783
      Location:1 → 193
      SPACA1; Sperm acrosome membrane-associated protein 1

    3. XM_047419385.1 → XP_047275341.1  sperm acrosome membrane-associated protein 1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      89255379..89275314
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356497.1 → XP_054212472.1  sperm acrosome membrane-associated protein 1 isoform X2

    2. XM_054356498.1 → XP_054212473.1  sperm acrosome membrane-associated protein 1 isoform X2

    3. XM_054356496.1 → XP_054212471.1  sperm acrosome membrane-associated protein 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HBV2.1 GenPept UniProtKB/Swiss-Prot:Q9HBV2

    Gene LinkOut

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

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