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

    Gene ID: 147650, updated on 27-Nov-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 membrane. [provided by Alliance of Genome Resources, Nov 2024]
    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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    See SPACA6 in Genome Data Viewer
    Location:
    19q13.41
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (51682686..51713143)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (54769841..54800507)
    RS_2024_09 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. A conserved fertilization complex bridges sperm and egg in vertebrates. Deneke VE, et al. Cell, 2024 Oct 10. PMID 39423812

    See all (12) 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)

    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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    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_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_2024_08

    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

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