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    ACRV1 acrosomal vesicle protein 1 [ Homo sapiens (human) ]

    Gene ID: 56, updated on 26-Nov-2024

    Summary

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    Official Symbol
    ACRV1provided by HGNC
    Official Full Name
    acrosomal vesicle protein 1provided by HGNC
    Primary source
    HGNC:HGNC:127
    See related
    Ensembl:ENSG00000134940 MIM:102525; AllianceGenome:HGNC:127
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SP-10; SPACA2; D11S4365
    Summary
    This gene encodes a testis-specific, differentiation antigen, acrosomal vesicle protein 1, that arises within the acrosomal vesicle during spermatogenesis, and is associated with the acrosomal membranes and matrix of mature sperm. The acrosomal vesicle protein 1 may be involved in sperm-zona binding or penetration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010]
    Expression
    Restricted expression toward testis (RPKM 39.8) See more
    Orthologs
    mouse all
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    Genomic context

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    See ACRV1 in Genome Data Viewer
    Location:
    11q24.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (125671522..125680847, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (125700163..125709487, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (125541417..125550742, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC118567325 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5700 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:125496550-125497093 Neighboring gene checkpoint kinase 1 Neighboring gene RNA, U2 small nuclear 35, pseudogene Neighboring gene uncharacterized LOC105369551 Neighboring gene prostate and testis expressed 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. ACVR1-activating mutation causes neuropathic pain and sensory neuron hyperexcitability in humans. Yu X, et al. Pain, 2023 Jan 1. PMID 35442931, Free PMC Article
    2. Purification and microsequencing of the intra-acrosomal protein SP-10. Evidence that SP-10 heterogeneity results from endoproteolytic processes. Herr JC, et al. Biol Reprod, 1992 Jul. PMID 1637938
    3. Differential diagnosis of immature germ cells in semen utilizing monoclonal antibody MHS-10 to the intra-acrosomal antigen SP-10. Homyk M, et al. Fertil Steril, 1990 Feb. PMID 2298314
    4. Characterization of alternatively spliced human SP-10 mRNAs. Freemerman AJ, et al. Mol Reprod Dev, 1995 May. PMID 7619499
    5. Human SP-10: acrosomal distribution, processing, and fate after the acrosome reaction. Foster JA, et al. Biol Reprod, 1994 Dec. PMID 7888499

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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

    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 spermatogenesis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in acrosomal vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    acrosomal protein SP-10
    Names
    sperm protein 10

    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.

    Genomic

    1. NG_047033.1 RefSeqGene

      Range
      5052..14377
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001612.6 → NP_001603.1  acrosomal protein SP-10 isoform a precursor

      See identical proteins and their annotated locations for NP_001603.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the full length form of this gene, which encodes 265 aa. All other variants, as compared to this variant, lack one or two in-frame fragments in exons II and/or III.
      Source sequence(s)
      AP001132, BC014588
      Consensus CDS
      CCDS8460.1
      UniProtKB/Swiss-Prot
      P26436, Q53FF4
      UniProtKB/TrEMBL
      B5BUP0
      Related
      ENSP00000432816.1, ENST00000533904.6
      Conserved Domains (2) summary
      PHA03169
      Location:47 → 184
      PHA03169; hypothetical protein; Provisional
      cd00117
      Location:188 → 264
      LU; Ly-6 antigen / uPA receptor -like domain; occurs singly in GPI-linked cell-surface glycoproteins (Ly-6 family,CD59, thymocyte B cell antigen, Sgp-2) or as three-fold repeated domain in urokinase-type plasminogen activator receptor. Topology of these ...

    2. NM_020069.5 → NP_064454.1  acrosomal protein SP-10 isoform b precursor

      See identical proteins and their annotated locations for NP_064454.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks a 57 nt fragment in the 3'-terminus of the exon II, as compared to variant 1. Isoform b encoded by this variant is thus 19 aa shorter than isoform a encoded by variant 1.
      Source sequence(s)
      AP001132, BC014588, DB446200, M82967
      Consensus CDS
      CCDS44759.1
      UniProtKB/TrEMBL
      B5BUP0
      Related
      ENSP00000317684.3, ENST00000315608.7
      Conserved Domains (1) summary
      cd00117
      Location:169 → 245
      LU; Ly-6 antigen / uPA receptor -like domain; occurs singly in GPI-linked cell-surface glycoproteins (Ly-6 family,CD59, thymocyte B cell antigen, Sgp-2) or as three-fold repeated domain in urokinase-type plasminogen activator receptor. Topology of these ...

    3. NM_020107.5 → NP_064492.1  acrosomal protein SP-10 isoform c precursor

      See identical proteins and their annotated locations for NP_064492.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks a 165 nt fragment within exon II, which results in 55 aa fewer in isoform c, as compared to isoform a encoded by variant 1.
      Source sequence(s)
      AP001132, BC014588, BI826178, DB446200
      Consensus CDS
      CCDS8461.1
      UniProtKB/Swiss-Prot
      P26436
      Related
      ENSP00000433720.1, ENST00000530048.5
      Conserved Domains (1) summary
      cd00117
      Location:133 → 209
      LU; Ly-6 antigen / uPA receptor -like domain; occurs singly in GPI-linked cell-surface glycoproteins (Ly-6 family,CD59, thymocyte B cell antigen, Sgp-2) or as three-fold repeated domain in urokinase-type plasminogen activator receptor. Topology of these ...

    4. NM_020108.5 → NP_064493.1  acrosomal protein SP-10 isoform d precursor

      See identical proteins and their annotated locations for NP_064493.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks a 210 nt fragment in exon II, which results in 70 aa fewer in isoform d, as compared to isoform a encoded by variant 1.
      Source sequence(s)
      AP001132, BC014588, BG720361
      Consensus CDS
      CCDS44761.1
      UniProtKB/Swiss-Prot
      P26436
      Related
      ENSP00000436819.1, ENST00000527795.1
      Conserved Domains (1) summary
      cd00117
      Location:118 → 194
      LU; Ly-6 antigen / uPA receptor -like domain; occurs singly in GPI-linked cell-surface glycoproteins (Ly-6 family,CD59, thymocyte B cell antigen, Sgp-2) or as three-fold repeated domain in urokinase-type plasminogen activator receptor. Topology of these ...

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      125671522..125680847 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      125700163..125709487 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_020109.3: Suppressed sequence

      Description
      NM_020109.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

    2. NM_020110.3: Suppressed sequence

      Description
      NM_020110.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

    3. NM_020111.3: Suppressed sequence

      Description
      NM_020111.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

    4. NM_020112.3: Suppressed sequence

      Description
      NM_020112.3: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.

    5. NM_020113.3: Suppressed sequence

      Description
      NM_020113.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

    6. NM_020114.3: Suppressed sequence

      Description
      NM_020114.3: This RefSeq was permanently suppressed because it contains the wrong CDS.

    7. NM_020115.3: Suppressed sequence

      Description
      NM_020115.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P26436.2 GenPept UniProtKB/Swiss-Prot:P26436

    Gene LinkOut

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

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