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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
External Ids for ACRV1 Gene
- HGNC: 127
- Entrez Gene: 56
- Ensembl: ENSG00000134940
- OMIM: 102525
- UniProtKB: P26436
Previous GeneCards Identifiers for ACRV1 Gene
- GC11M127543
- GC11M127055
- GC11M125576
- GC11M125079
- GC11M125047
- GC11M121483
Summaries 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.
Additional gene information for ACRV1 Gene
- HGNC(127)
- Entrez Gene(56)
- Ensembl(ENSG00000134940)
- OMIM(102525)
- UniProtKB(P26436)
- Open Targets Platform(ENSG00000134940)
- Search for ACRV1 at DataMed
- Search for ACRV1 at HumanCyc
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:
-
- 11q24.2 by HGNC
- 11q24.2 by Entrez Gene
- 11q24.2 by Ensembl
ACRV1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ACRV1 Gene
Proteins for ACRV1 Gene
-
Protein details for ACRV1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P26436-ASPX_HUMAN
- Recommended name:
- Acrosomal protein SP-10
- Protein Accession:
- P26436
- Q53FF4
Protein attributes for ACRV1 Gene
- Size:
- 265 amino acids
- Molecular mass:
- 28156 Da
- Quaternary structure:
- No Data Available
Protein Expression for ACRV1 Gene
Post-translational modifications for ACRV1 Gene
-
Glycosylation at Asn258
- NX_P26436 (NX_P26436-1)
Other Protein References for ACRV1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-Intra Acrosomal Protein monoclonal antibody, clone Js-26
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-
Abcam antibodies for ACRV1
- Invitrogen Antibodies for ACRV1 (AFLGC-ACRV1)
- Sino Biological Antibodies for ACRV1
Protein Products
- G Biosciences Human SP-10/ACRV1, Lyophilized
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- antibodies-online: Show 10 available ACRV1 Proteins ranked by validation data
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-
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ProSci Proteins for ACRV1
-
Abcam proteins for ACRV1
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)
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
Phenotypes for ACRV1 Gene
- GenomeRNAi human phenotypes for ACRV1:
-
- Decreased hepcidin::fluc mRNA expression
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Decreased NF-kappaB reporter expression
- Decreased homologous recombination repair frequency
- Decreased IL-8 secretion
- Decreased infection with West Nile virus (WNV)
- Decreased West Nile virus (WNV) infection
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
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-
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miRNA Products
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- RC214487
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- RC221078
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- RC222483L3
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- RG205185
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- RG221078
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- RR200590
- RR200590L3
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- MR217518L3V
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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Cell Line Products
-
Horizon Cell Lines for ACRV1
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.
| Compartment | Confidence |
|---|---|
| extracellular | 3 |
| nucleus | 2 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| cytosol | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001669 | acrosomal vesicle | IEA | -- |
| GO:0031410 | cytoplasmic vesicle | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for ACRV1 Gene
Pathways & Interactions for ACRV1 Gene
Interacting Proteins for ACRV1 Gene
GPS-Prot Interaction Network for ACRV1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007275 | multicellular organism development | TAS | 1693291 |
No data available for Pathways by source and SIGNOR curated interactions for ACRV1 Gene
Drugs & Compounds for ACRV1 Gene
No Compound Related Data Available
Drug Products
- G Biosciences Human SP-10/ACRV1, Lyophilized
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 :
-
- ENST00000533904 1936 nts (view in UCSC)
- ENST00000315608 1042 nts (view in UCSC)
- ENST00000530048 794 nts (view in UCSC)
- ENST00000527795 782 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ACRV1 - Select products 50% OFF >
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-
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-
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miRNA Products
Inhibitory RNA Products
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Clone Products
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- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG217518
- MR217518
- MR217518L3
- MR217518L4
- RC205185
- RC205185L3
- RC205185L4
- RC213557
- RC213557L3
- RC213557L4
- RC214263
- RC214263L3
- RC214263L4
- RC214487
- RC214487L1
- RC214487L2
- RC214487L3
- RC214487L4
- RC221078
- RC222483
- RC222483L3
- RC222483L4
- RG205185
- RG213557
- RG214263
- RG214487
- RG221078
- RG222483
- RR200590
- RR200590L3
- RR200590L4
- MR217518L3V
- MR217518L4V
- RC205185L3V
- RC205185L4V
- RC213557L3V
- RC213557L4V
- RC214263L3V
- RC214263L4V
- RC214487L1V
- RC214487L2V
- RC214487L3V
- RC214487L4V
- RC222483L3V
- RC222483L4V
- RR200590L3V
- RR200590L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ACRV1
| 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 embryonic tissues and stem cells from LifeMap Discovery
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
- Seminiferous Tubules
- Testis Interstitium
mRNA differential expression in normal tissues according to GTEx for ACRV1 Gene
This gene is overexpressed in Testis (x42.1).
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACRV1
SOURCE GeneReport for Unigene cluster for ACRV1 Gene:
Hs.169222mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for ACRV1
-
OriGene qPCR primer pairs and template standards for ACRV1
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ACRV1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ACRV1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ACRV1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Acrv1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Acrv1 30 17 31 |
|
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
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 |
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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| byssinosis |
|
|
| pneumoconiosis due to talc |
|
|
| spastic paraplegia 24, autosomal recessive |
|
|
| spastic hemiplegia |
|
|
| hordeolum |
|
|
Search ACRV1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for ACRV1
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for ACRV1 Gene
Publications for ACRV1 Gene
- 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
- Characterization of alternatively spliced human SP-10 mRNAs. (PMID: 7619499) Freemerman AJ … Herr JC (Molecular reproduction and development 1995) 3 4 23
- 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
- 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
- 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
ExternalLinks
Products for ACRV1 Gene
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- antibodies-online: Show 77 available ACRV1 Antibodies ranked by validation data
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- antibodies-online: Search results for available ACRV1 related products ranked by validation data
- antibodies-online: Show 10 available ACRV1 Proteins ranked by validation data
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Sources for ACRV1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
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