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. ... See more...

Aliases for ACRV1 Gene

Aliases for ACRV1 Gene

  • Acrosomal Vesicle Protein 1 2 3 4 5
  • Acrosomal Protein SP-10 3 4
  • Sperm Protein 10 2 3
  • D11S4365 2 3
  • SPACA2 2 3
  • SP-10 2 3
  • ACRV1 5

External Ids for ACRV1 Gene

Previous GeneCards Identifiers for ACRV1 Gene

  • GC11M127543
  • GC11M127055
  • GC11M125576
  • GC11M125079
  • GC11M125047
  • GC11M121483

Summaries for ACRV1 Gene

Entrez Gene Summary for ACRV1 Gene

  • 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]

GeneCards Summary for ACRV1 Gene

ACRV1 (Acrosomal Vesicle Protein 1) is a Protein Coding gene. Diseases associated with ACRV1 include Byssinosis and Pneumoconiosis Due To Talc. An important paralog of this gene is PATE3.

Gene Wiki entry for ACRV1 Gene

Additional gene information for ACRV1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACRV1 Gene

Genomics for ACRV1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ACRV1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J125680 Promoter 0.3 EPDnew 600.7 +0.0 7 0.1 ACRV1 RF00004-028 RNU2-35P CHEK1
GH11J125624 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 4.9 +54.6 54586 3.8 HNRNPL CREB1 CTCF TEAD4 PRDM10 ZNF629 TFE3 LEF1 SOX13 IKZF1 CHEK1 MN309420 lnc-ACRV1-2 TMEM218 ENSG00000255062 MSANTD2 TIRAP STT3A CCDC15 STT3A-AS1
GH11J125673 Enhancer 0.4 Ensembl 0.4 +6.3 6273 2 FOS JUN ZNF493 CHEK1 ACRV1 RF00004-028 RNU2-35P
GH11J125670 Enhancer 0.3 Ensembl 0.4 +9.7 9673 2.4 JUN CHEK1 ACRV1 RF00004-028 RNU2-35P
GH11J125701 Enhancer 0.3 Ensembl 0.4 -21.1 -21127 1.2 ZIC2 piR-33303-042 CHEK1 HYLS1 piR-34812 ACRV1 PATE1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACRV1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACRV1

Top Transcription factor binding sites by QIAGEN in the ACRV1 gene promoter:
  • AREB6
  • Arnt
  • C/EBPbeta
  • Ik-3
  • Pax-4a
  • POU2F1
  • POU2F1a
  • Sox9

Genomic Locations for ACRV1 Gene

Genomic Locations for ACRV1 Gene
chr11:125,671,522-125,680,874
(GRCh38/hg38)
Size:
9,353 bases
Orientation:
Minus strand
chr11:125,541,417-125,551,018
(GRCh37/hg19)
Size:
9,602 bases
Orientation:
Minus strand

Genomic View for ACRV1 Gene

Genes around ACRV1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACRV1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACRV1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACRV1 Gene

Proteins for ACRV1 Gene

neXtProt entry for ACRV1 Gene

Post-translational modifications for ACRV1 Gene

  • Glycosylation at Asn258

Other Protein References for ACRV1 Gene

No data available for DME Specific Peptides for ACRV1 Gene

Domains & Families for ACRV1 Gene

Gene Families for ACRV1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ACRV1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ACRV1 Gene

GenScript: Design optimal peptide antigens:
  • Acrosomal vesicle protein 1 (ASPX_HUMAN)
  • Acrosomal vesicle protein 1 isoform b (B5BUP0_HUMAN)
genes like me logo Genes that share domains with ACRV1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ACRV1 Gene

Function for ACRV1 Gene

Molecular function for ACRV1 Gene

GENATLAS Biochemistry:
acrosomal vesicle protein 1

Phenotypes From GWAS Catalog for ACRV1 Gene

genes like me logo Genes that share phenotypes with ACRV1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACRV1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ACRV1 Gene

Localization for ACRV1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACRV1 Gene

Cytoplasmic vesicle, secretory vesicle, acrosome. Note=Nascent acrosomal vesicle of Golgi phase spermatids.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACRV1 gene
Compartment Confidence
extracellular 3
nucleus 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ACRV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0031410 cytoplasmic vesicle IEA --
genes like me logo Genes that share ontologies with ACRV1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ACRV1 Gene

Pathways & Interactions for ACRV1 Gene

PathCards logo

SuperPathways for ACRV1 Gene

No Data Available

Interacting Proteins for ACRV1 Gene

STRING Interaction Network Preview (showing top 3 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000432816 P26436-ASPX_HUMAN for ACRV1 Gene via STRING IID

Gene Ontology (GO) - Biological Process for ACRV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development TAS 1693291
genes like me logo Genes that share ontologies with ACRV1: view

No data available for Pathways by source and SIGNOR curated interactions for ACRV1 Gene

Drugs & Compounds for ACRV1 Gene

No Compound Related Data Available

Transcripts for ACRV1 Gene

mRNA/cDNA for ACRV1 Gene

11 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACRV1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACRV1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b · 5c
SP1: -
SP2:
SP3:
SP4: -

Relevant External Links for ACRV1 Gene

GeneLoc Exon Structure for
ACRV1

Expression for ACRV1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACRV1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACRV1 Gene

This gene is overexpressed in Testis (x42.1).

Protein differential expression in normal tissues from HIPED for ACRV1 Gene

This gene is overexpressed in Testis (60.9) and Ovary (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ACRV1 Gene



Protein tissue co-expression partners for ACRV1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACRV1

SOURCE GeneReport for Unigene cluster for ACRV1 Gene:

Hs.169222

mRNA Expression by UniProt/SwissProt for ACRV1 Gene:

P26436-ASPX_HUMAN
Tissue specificity: Testis.

Evidence on tissue expression from TISSUES for ACRV1 Gene

  • Blood(2.3)
  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with ACRV1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ACRV1 Gene

Orthologs for ACRV1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for ACRV1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ACRV1 30 31
  • 97.62 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ACRV1 30 31
  • 82.26 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ACRV1 30 31
  • 75.92 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Acrv1 30
  • 73.41 (n)
Mouse
(Mus musculus)
Mammalia Acrv1 30 17 31
  • 72.4 (n)
OneToOne
Species where no ortholog for ACRV1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for ACRV1 Gene

ENSEMBL:
Gene Tree for ACRV1 (if available)
TreeFam:
Gene Tree for ACRV1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACRV1: view image

Paralogs for ACRV1 Gene

Paralogs for ACRV1 Gene

genes like me logo Genes that share paralogs with ACRV1: view

Variants for ACRV1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACRV1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs193921098 Uncertain Significance: Malignant tumor of prostate 125,676,409(-) G/A MISSENSE_VARIANT
rs34788353 - p.Gly126Arg

Additional dbSNP identifiers (rs#s) for ACRV1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ACRV1 Gene

Variant ID Type Subtype PubMed ID
esv32964 CNV gain+loss 17666407
nsv39485 CNV deletion 16902084

Variation tolerance for ACRV1 Gene

Residual Variation Intolerance Score: 64.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.00; 49.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACRV1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACRV1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACRV1 Gene

Disorders for ACRV1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for ACRV1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
byssinosis
  • cotton mill fever
pneumoconiosis due to talc
  • talc pneumoconiosis
spastic paraplegia 24, autosomal recessive
  • spg24
spastic hemiplegia
  • congenital hemiplegia
hordeolum
  • hordeolum externum
- elite association - COSMIC cancer census association via MalaCards
Search ACRV1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ACRV1

genes like me logo Genes that share disorders with ACRV1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ACRV1 Gene

Publications for ACRV1 Gene

  1. Cloning and sequencing of cDNAs coding for the human intra-acrosomal antigen SP-10. (PMID: 1693291) Wright RM … Herr JC (Biology of reproduction 1990) 2 3 4 23
  2. Characterization of alternatively spliced human SP-10 mRNAs. (PMID: 7619499) Freemerman AJ … Herr JC (Molecular reproduction and development 1995) 3 4 23
  3. Cloning and characterization of the gene coding for the human acrosomal protein SP-10. (PMID: 8373955) Wright RM … Herr JC (Biology of reproduction 1993) 3 4 23
  4. 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. (PMID: 8288254) Golden WL … Herr JC (Genomics 1993) 2 3 23
  5. Purification and microsequencing of the intra-acrosomal protein SP-10. Evidence that SP-10 heterogeneity results from endoproteolytic processes. (PMID: 1637938) Herr JC … Flickinger CJ (Biology of reproduction 1992) 3 4 23

Products for ACRV1 Gene

Sources for ACRV1 Gene