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SPACA6 sperm acrosome associated 6 [ Homo sapiens (human) ]

Gene ID: 147650, updated on 5-Mar-2024

Summary

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Official Symbol
SPACA6provided by HGNC
Official Full Name
sperm acrosome associated 6provided by HGNC
Primary source
HGNC:HGNC:27113
See related
Ensembl:ENSG00000182310 MIM:618945; AllianceGenome:HGNC:27113
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
LET7EH; SPACA6P; LINC00085; NCRNA00085
Summary
Predicted to be involved in fusion of sperm to egg plasma membrane involved in single fertilization. Predicted to be located in acrosomal vesicle. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 2.0), placenta (RPKM 1.7) and 22 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
19q13.41
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (51682686..51713143)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (54769841..54800507)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (52192635..52208443)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein L7 pseudogene 51 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15027 Neighboring gene small nucleolar RNA U13 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:52191245-52191463 Neighboring gene SPACA6 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:52193241-52194048 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:52194049-52194858 Neighboring gene microRNA let-7e Neighboring gene microRNA 125a Neighboring gene microRNA 99b Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10990 Neighboring gene hyaluronan synthase 1 Neighboring gene uncharacterized LOC124904754 Neighboring gene Sharpr-MPRA regulatory region 4853 Neighboring gene formyl peptide receptor 1

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. SPACA6 ectodomain structure reveals a conserved superfamily of gamete fusion-associated proteins. Vance TDR, et al. Commun Biol, 2022 Sep 17. PMID 36115925, Free PMC Article
  2. Sperm SPACA6 protein is required for mammalian Sperm-Egg Adhesion/Fusion. Barbaux S, et al. Sci Rep, 2020 Mar 24. PMID 32210282, Free PMC Article
  3. A transgenic insertion on mouse chromosome 17 inactivates a novel immunoglobulin superfamily gene potentially involved in sperm-egg fusion. Lorenzetti D, et al. Mamm Genome, 2014 Apr. PMID 24275887
  4. Pinstripe: a suite of programs for integrating transcriptomic and proteomic datasets identifies novel proteins and improves differentiation of protein-coding and non-coding genes. Gascoigne DK, et al. Bioinformatics, 2012 Dec 1. PMID 23044541
  5. Multifaceted Regulation of Akt by Diverse C-Terminal Post-translational Modifications. Salguero AL, et al. ACS Chem Biol, 2022 Jan 21. PMID 34941261, Free PMC Article

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. SPACA6 ectodomain structure reveals a conserved superfamily of gamete fusion-associated proteins.
    Title: SPACA6 ectodomain structure reveals a conserved superfamily of gamete fusion-associated proteins.
  2. Sperm SPACA6 protein is required for mammalian Sperm-Egg Adhesion/Fusion.
    Title: Sperm SPACA6 protein is required for mammalian Sperm-Egg Adhesion/Fusion.
Submit: New GeneRIF Correction

Phenotypes

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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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC125919, MGC125920

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 fusion of sperm to egg plasma membrane involved in single fertilization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in fusion of sperm to egg plasma membrane involved in single fertilization ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in acrosomal membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
sperm acrosome membrane-associated protein 6
Names
BACHELOR-like protein
Let-7e host
long intergenic non-protein coding RNA 85
sperm acrosome associated 6, pseudogene

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_001316972.2 → NP_001303901.1  sperm acrosome membrane-associated protein 6 isoform 1 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AC018755, BC041134, KF751883
    Consensus CDS
    CCDS82386.1
    UniProtKB/Swiss-Prot
    C0H5Y6, Q6UWG3, W5XKT8
    Related
    ENSP00000490829.1, ENST00000637797.2
    Conserved Domains (3) summary
    smart00410
    Location:156 → 229
    IG_like; Immunoglobulin like
    pfam02480
    Location:212 → 320
    Herpes_gE; Alphaherpesvirus glycoprotein E
    pfam13927
    Location:155 → 229
    Ig_3; Immunoglobulin domain

  2. NM_001316994.2 → NP_001303923.1  sperm acrosome membrane-associated protein 6 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate exon in the 5' UTR and 5' coding region which results in the use of an alternate start codon compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC018755
    Conserved Domains (2) summary
    cd00096
    Location:125 → 129
    Ig; Ig strand B [structural motif]
    cl11960
    Location:116 → 207
    Ig; Immunoglobulin domain

RNA

  1. NR_024330.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate segment, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC018755, AY358799, BC041134
    Related
    ENST00000573266.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    51682686..51713143
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017026300.3 → XP_016881789.1  sperm acrosome membrane-associated protein 6 isoform X2

    UniProtKB/TrEMBL
    A0AA34QVJ1
    Related
    ENSP00000518379.1, ENST00000710615.1

  2. XM_017026299.3 → XP_016881788.1  sperm acrosome membrane-associated protein 6 isoform X1

    UniProtKB/Swiss-Prot
    C0H5Y6, Q6UWG3, W5XKT8
    Conserved Domains (3) summary
    smart00410
    Location:156 → 229
    IG_like; Immunoglobulin like
    pfam02480
    Location:212 → 320
    Herpes_gE; Alphaherpesvirus glycoprotein E
    pfam13927
    Location:155 → 229
    Ig_3; Immunoglobulin domain

RNA

  1. XR_007066593.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    54769841..54800507
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054319849.1 → XP_054175824.1  sperm acrosome membrane-associated protein 6 isoform X2

    UniProtKB/TrEMBL
    A0AA34QVJ1

  2. XM_054319848.1 → XP_054175823.1  sperm acrosome membrane-associated protein 6 isoform X1

    UniProtKB/Swiss-Prot
    C0H5Y6, Q6UWG3, W5XKT8

RNA

  1. XR_008485085.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_207324.1: Suppressed sequence

    Description
    NM_207324.1: This RefSeq was permanently suppressed because it is now thought that this gene does not encode a protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
W5XKT8.2 GenPept UniProtKB/Swiss-Prot:W5XKT8

Gene LinkOut

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

Chemical Information
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Research Materials
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