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 Hordeolum and Spastic Paraplegia 24, Autosomal Recessive.
No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACRV1 Gene
Genomics for ACRV1 Gene
GeneHancer (GH) Regulatory Elements for ACRV1 Gene
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 | 0.5 | EPDnew | 650.7 | +0.3 | 256 | 0.1 | ACRV1 GC11M125643 | ||
| GH11J125624 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE | 4.9 | +55.1 | 55053 | 3.4 | MLX ZFP64 DMAP1 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 MEF2D | CHEK1 HP11014 TMEM218 TIRAP MSANTD2 FEZ1 STT3A CCDC15 ACRV1 PUS3 | |
| GH11J125690 | Enhancer | 0.2 | FANTOM5 | 0.4 | -9.9 | -9899 | 0.1 | CHEK1 PIR40176 ACRV1 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around ACRV1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the ACRV1 gene promoter:
-
- C/EBPbeta
- Sox9
- Pax-4a
- AREB6
- Arnt
- Ik-3
- POU2F1a
- POU2F1
Regulatory Element Products
Genomic Locations for ACRV1 Gene
Genomic Locations for ACRV1 Gene
- chr11:125,671,522-125,681,123
- (GRCh38/hg38)
- Size:
- 9,602 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 Entrez Gene
- 11q24.2 by HGNC
- 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
Other Protein References for ACRV1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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-
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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 secreted proteins
Protein Domains for ACRV1 Gene
- ProtoNet:
Suggested Antigen Peptide Sequences for ACRV1 Gene
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Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for ACRV1 Gene
Function for ACRV1 Gene
Molecular function for ACRV1 Gene
- GENATLAS Biochemistry:
- acrosomal vesicle protein 1
Phenotypes for ACRV1 Gene
- GenomeRNAi human phenotypes for ACRV1:
-
- Decreased homologous recombination repair frequency
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Decreased hepcidin::fluc mRNA expression
- Decreased infection with West Nile virus (WNV)
- Decreased West Nile virus (WNV) infection
- Decreased NF-kappaB reporter expression
- Decreased IL-8 secretion
- Increased viability
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-
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
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No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 |
| lysosome | 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
No Data Available
Interacting Proteins for ACRV1 Gene
| 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
Transcripts for ACRV1 Gene
mRNA/cDNA for ACRV1 Gene
- (11) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (35) Selected AceView cDNA sequences:
- (4) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000315608 1042 bps (uc001qcr.4)
- ENST00000527795 782 bps (uc001qcl.4)
- ENST00000530048 794 bps (uc001qcn.4)
- ENST00000533904 2212 bps (uc001qcs.4)
Unigene Clusters for ACRV1 Gene
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Clone Products
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- RC213557L2V
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- RC214487L2V
- RC205185
- RC205185L1
- RC205185L2
- RG205185
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- RG214263
- RC222483
- RC222483L1
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- RG222483
- RC221078
- RG221078
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- RC213557L1
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- RG213557
- RC214487
- RC214487L1
- RC214487L2
- RG214487
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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-
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| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||
| SP2: | |||||||||||||||||||||
| SP3: | |||||||||||||||||||||
| SP4: | - |
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
NURSA nuclear receptor signaling pathways regulating expression of ACRV1 Gene:
ACRV1SOURCE GeneReport for Unigene cluster for ACRV1 Gene:
Hs.169222mRNA Expression by UniProt/SwissProt for ACRV1 Gene:
P26436-ASPX_HUMAN
Tissue specificity:
Testis.
Primer Products
-
OriGene qPCR primer pairs and template standards for ACRV1
-
OriGene qPCR primer pairs for ACRV1
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Gene Expression Assay Products
No data available for Evidence on tissue expression from TISSUES and 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 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | ACRV1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | ACRV1 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Acrv1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Acrv1 16 34 33 |
|
- Species where no ortholog for ACRV1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 squirt (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
No data available for Paralogs for ACRV1 Gene
Variants for ACRV1 Gene
| SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs193921098 | uncertain-significance, Malignant tumor of prostate | 125,676,409(-) | G/A/T | coding_sequence_variant, missense_variant | |
| rs1000218137 | -- | 125,672,747(-) | A/C | intron_variant | |
| rs1000387485 | -- | 125,677,823(-) | C/T | coding_sequence_variant, intron_variant, missense_variant | |
| rs1000992894 | -- | 125,676,279(-) | C/T | intron_variant | |
| rs1001258052 | -- | 125,676,527(-) | G/A | intron_variant |
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 |
|---|---|---|
| hordeolum |
|
|
| spastic paraplegia 24, autosomal recessive |
|
|
| skin sarcoma |
|
|
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
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 22 58
- Characterization of alternatively spliced human SP-10 mRNAs. (PMID: 7619499) Freemerman AJ … Herr JC (Molecular reproduction and development 1995) 3 4 22 58
- 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 22 58
- 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 22 58
- 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 22 58
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- Mammalian expression: PiggyBac
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- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
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- antibodies-online: Search results for 78 available ACRV1 Antibodies ranked by validation data
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Sources for ACRV1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
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- (121) MeSH
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- (123) CDC
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- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt