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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ACRV1 Gene

protein-coding   GIFtS: 49
GCID: GC11M125576

Acrosomal Vesicle Protein 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Acrosomal Vesicle Protein 11 2 3
Sperm Protein 101 2
D11S43652
SP-102
SPACA22
Acrosomal Protein SP-102

External Ids:    HGNC: 1271   Entrez Gene: 562   Ensembl: ENSG000001349407   OMIM: 1025255   UniProtKB: P264363   

Export aliases for ACRV1 gene to outside databases

Previous GC identifers: GC11M127543 GC11M127055 GC11M125079 GC11M125047 GC11M121483


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 hordeolum, and lemierres syndrome.

Gene Wiki entry for ACRV1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_033899.8  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ACRV1 gene promoter:
         AREB6   C/EBPbeta   POU2F1   POU2F1a   Sox9   Ik-3   Pax-4a   Arnt   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACRV1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ACRV1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACRV1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q24.2   Ensembl cytogenetic band:  11q24.2   HGNC cytogenetic band: 11q24.2

ACRV1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACRV1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M125576:  view genomic region     (about GC identifiers)

Start:
125,541,417 bp from pter      End:
125,551,018 bp from pter
Size:
9,602 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ASPX_HUMAN, P26436 (See protein sequence)
Recommended Name: Acrosomal protein SP-10 precursor  
Size: 265 amino acids; 28156 Da
Subcellular location: Cytoplasmic vesicle, secretory vesicle, acrosome. Note=Nascent acrosomal vesicle of Golgi
phase spermatids
Secondary accessions: Q53FF4
Alternative splicing: 11 isoforms:  P26436-1   P26436-2   P26436-3   P26436-4   P26436-5   P26436-6   P26436-7   P26436-8   
P26436-9   P26436-10   P26436-11   

Explore the universe of human proteins at neXtProt for ACRV1: NX_P26436

Explore proteomics data for ACRV1 at MOPED 

ACRV1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

ACRV1 Protein Expression

REFSEQ proteins (4 alternative transcripts): 
NP_001603.1  NP_064454.1  NP_064492.1  NP_064493.1  

ENSEMBL proteins: 
 ENSP00000432816   ENSP00000317684   ENSP00000433720   ENSP00000436819   ENSP00000407846  
 ENSP00000257382   ENSP00000411583   ENSP00000397448   ENSP00000412653   ENSP00000257385  
 ENSP00000257383   ENSP00000395453   ENSP00000257386  

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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001669acrosomal vesicle IEA--

ACRV1 for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
1 InterPro protein domain:
 IPR026787 Acrosomal_SP-10

Graphical View of Domain Structure for InterPro Entry P26436

ProtoNet protein and cluster: P26436


ACRV1 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:
     Genatlas biochemistry entry for ACRV1:
acrosomal vesicle protein 1

Animal Models:
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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section




Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ACRV1

Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0007275multicellular organismal development TAS1693291

ACRV1 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
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Browse Tocris compounds for ACRV1 (ASPX)

Search CenterWatch for drugs/clinical trials and news about ACRV1 / ASPX

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ACRV1 gene (11 alternative transcripts): 
NM_001612.5  NM_020069.4  NM_020107.4  NM_020108.4  NM_020109.3  NM_020110.3  NM_020111.3  NM_020112.3  
NM_020113.3  NM_020114.3  NM_020115.3  

Unigene Cluster for ACRV1:

Acrosomal vesicle protein 1
Hs.169222  [show with all ESTs]
Unigene Representative Sequence: NM_001612
13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000533904(uc001qcl.3 uc001qcn.3 uc001qcr.3 uc001qcs.3)
ENST00000315608 ENST00000530048 ENST00000527795 ENST00000433875 ENST00000257382
ENST00000426183 ENST00000453509 ENST00000445562 ENST00000348856 ENST00000345274
ENST00000425431 ENST00000353070
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Additional mRNA sequence: 

AB451476.1 AK223335.1 BC014588.2 M82967.1 M82968.1 

10 DOTS entries:

DT.410268  DT.40115407  DT.92421772  DT.120738743  DT.92421773  DT.100752518  DT.402021  DT.92421774 
DT.100752516  DT.91994632 

5 AceView cDNA sequences:

BU656666 BF222841 H93373 AA203226 H89850 

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for ACRV1    About this scheme

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


ECgene alternative splicing isoforms for ACRV1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ACRV1 expression in normal human tissues (normalized intensities)      ACRV1 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GTTAAAGCAA
ACRV1 Expression
About this image


ACRV1 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/1 selected tissues (see all 1) fully expand
 
 Testis (Reproductive System)    fully expand to see all 4 entries
         Leydig Cells Testis Interstitium
         Testis Interstitium
         sperm   

See ACRV1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ACRV1

SOURCE GeneReport for Unigene cluster: Hs.169222

UniProtKB/Swiss-Prot: ASPX_HUMAN, P26436
Tissue specificity: Testis

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In Situ
Assay Products:
 

 
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of human and mouse.

Orthologs for ACRV1 gene from 1/5 species (see all 5)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Acrv11 , 5 acrosomal vesicle protein 11, 5 72.46(n)1
64.43(a)1
  9 (20.67 cM)5
114511  NM_007391.21  NP_031417.21 
 366932205 


ENSEMBL Gene Tree for ACRV1 (if available)
TreeFam Gene Tree for ACRV1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/161 SNPs in ACRV1 are shown (see all 161)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 11 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1844003371,2
--125546775(+) TTTGAC/TCGATT 4 -- int10--------
rs1392144891,2
--125546816(+) CAAACA/CCTGTG 4 -- int10--------
rs1497117651,2
C--125546826(+) AAGAG-/TCTGTGT 4 -- int10--------
rs1903411151,2
--125547126(+) TTGAGA/GCATCA 4 -- int10--------
rs1928676571,2
C--125547188(+) ACAGAA/CTAGCA 4 -- int10--------
rs1850547801,2
C--125547238(+) GCTTTA/GCATTC 4 -- int10--------
rs1895655391,2
--125547304(+) AGTTAC/TAGCAT 4 -- int10--------
rs1809026691,2
--125547390(+) CCCCTA/TCTAGG 4 -- int10--------
rs1499564721,2
--125547401(+) GAAGTC/TGGAAG 4 -- int10--------
rs1131802671,2
C--125547419(+) TATTCG/ATAATT 4 -- int11Minor allele frequency- A:0.50CSA 2

HapMap Linkage Disequilibrium report for ACRV1 (125541417 - 125551018 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for ACRV1:    About this table     
Variant IDTypeSubtypePubMed ID
nsv39485CNV Loss16902084
esv32964CNV Gain+Loss17666407

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 102525    OMIM disorders: --

6 diseases for ACRV1:    About MalaCards
hordeolum    lemierres syndrome    lemierre's syndrome    frozen shoulder
silicosis    infertility

2 diseases from the University of Copenhagen DISEASES database for ACRV1:
Hordeolum     Osteoarthritis

ACRV1 for disorders           About GeneDecksing

Genetic Association Database (GAD): ACRV1

Export disorders for ACRV1 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for ACRV1 gene, integrated from 9 sources (see all 33):
(articles sorted by number of sources associating them with ACRV1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Cloning and sequencing of cDNAs coding for the human intra-acrosomal antigen SP-10. (PubMed id 1693291)1, 2, 3, 9 Wright R.M.... Herr J.C. (1990)
  2. Purification and microsequencing of the intra-acrosomal protein SP- 10. Evidence that SP-10 heterogeneity results from endoproteolytic processes. (PubMed id 1637938)1, 2, 9 Herr J.C.... Flickinger C.J. (1992)
  3. Characterization of alternatively spliced human SP-10 mRNAs. (PubMed id 7619499)1, 2, 9 Freemerman A.J.... Herr J.C. (1995)
  4. Cloning and characterization of the gene coding for the human acrosomal protein SP-10. (PubMed id 8373955)1, 2, 9 Wright R.M.... Herr J.C. (1993)
  5. 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. (PubMed id 8288254)1, 3, 9 Golden W.L....Herr J.C. (1993)
  6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  7. Transcriptional regulation of spermiogenesis: insights from the study of the gene encoding the acrosomal protein SP-10. (PubMed id 11730901)1, 9 Reddi P.P....Herr J.C. (2002)
  8. Human SP-10: acrosomal distribution, processing, and fate after the acrosome reaction. (PubMed id 7888499)1, 9 Foster J.A....Herr J.C. (1994)
  9. Differential diagnosis of immature germ cells in semen utilizing monoclonal antibody MHS-10 to the intra-acrosomal antigen SP-10. (PubMed id 2298314)1, 9 Homyk M....Herr J.C. (1990)
  10. Developmental expression of ACRV1 in humans and mice. (PubMed id 21488928)1 Tang A....Cai Z. (2012)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 56 HGNC: 127 AceView: ACRV1.1 Ensembl:ENSG00000134940 euGenes: HUgn56
ECgene: ACRV1 H-InvDB: ACRV1

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for ACRV1 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for ACRV1 gene:
Search GeneIP for patents involving ACRV1

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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 Proteins for ACRV1
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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transforming growth factor, beta 1
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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