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

Gene ID: 81833, updated on 25-Jan-2022

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; 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
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
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Genomic context

See SPACA1 in Genome Data Viewer
Location:
6q15
Exon count:
8
Annotation release Status Assembly Chr Location
109.20211119 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

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

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)

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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_030960.3NP_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 109.20211119

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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