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

Gene ID: 56, updated on 2-Mar-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
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Genomic context

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Location:
11q24.2
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (125671522..125680847, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (125700163..125709487, complement)
105.20220307 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. Cloning and characterization of the gene coding for the human acrosomal protein SP-10. Wright RM, et al. Biol Reprod, 1993 Aug. PMID 8373955
  3. Refinement of the localization of the gene for human intraacrosomal protein SP-10 (ACRV1) to the junction of bands q23-->q24 of chromosome 11 by nonisotopic in situ hybridization. Golden WL, et al. Genomics, 1993 Nov. PMID 8288254
  4. Human SP-10: acrosomal distribution, processing, and fate after the acrosome reaction. Foster JA, et al. Biol Reprod, 1994 Dec. PMID 7888499
  5. Characterization of alternatively spliced human SP-10 mRNAs. Freemerman AJ, et al. Mol Reprod Dev, 1995 May. PMID 7619499

See all (18) 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)

Genotypes

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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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.

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_2023_10

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

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