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ACRBP Gene

protein-coding   GIFtS: 45
GCID: GC12M006748

Acrosin Binding Protein

  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)
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Aliases
Acrosin Binding Protein1 2     OY-TES-12
Cancer/Testis Antigen 231 2 3     SP322
Proacrosin Binding Protein Sp321 2     Acrosin-Binding Protein2
Cancer/Testis Antigen OY-TES-12 3     Proacrosin-Binding Protein Sp323
CT232 3     

External Ids:    HGNC: 171951   Entrez Gene: 845192   Ensembl: ENSG000001116447   OMIM: 6083525   UniProtKB: Q8NEB73   

Export aliases for ACRBP gene to outside databases

Previous GC identifers: GC12M006688 GC12M006813 GC12M006626 GC12M006617


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ACRBP Gene:
The protein encoded by this gene is similar to proacrosin binding protein sp32 precursor found in mouse, guinea
pig, and pig. This protein is located in the sperm acrosome and is thought to function as a binding protein to
proacrosin for packaging and condensation of the acrosin zymogen in the acrosomal matrix. This protein is a
member of the cancer/testis family of antigens and it is found to be immunogenic. In normal tissues, this mRNA is
expressed only in testis, whereas it is detected in a range of different tumor types such as bladder, breast,
lung, liver, and colon. (provided by RefSeq, Jul 2008)

GeneCards Summary for ACRBP Gene:
ACRBP (acrosin binding protein) is a protein-coding gene. Diseases associated with ACRBP include arteriolosclerosis, and cowpox.

UniProtKB/Swiss-Prot: ACRBP_HUMAN, Q8NEB7
Function: May be involved in packaging and condensation of the acrosin zymogen in the acrosomal matrix via its
association with proacrosin (By similarity)




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NC_018923.2  NT_009759.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACRBP gene promoter:
         p53   MyoD   FOXD3   STAT5A   IRF-1   MZF-1   CP2   Pax-4a   ATF   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACRBP promoter sequence
   Search Chromatin IP Primers for ACRBP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACRBP


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

Entrez Gene cytogenetic band: 12p13.31   Ensembl cytogenetic band:  12p13.31   HGNC cytogenetic band: 12p13.31

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

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M006748:  view genomic region     (about GC identifiers)

Start:
6,747,241 bp from pter      End:
6,756,626 bp from pter
Size:
9,386 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ACRBP_HUMAN, Q8NEB7 (See protein sequence)
Recommended Name: Acrosin-binding protein precursor  
Size: 543 amino acids; 61359 Da
Subunit: Binds proacrosin (By similarity)
Secondary accessions: Q9BY87

Explore the universe of human proteins at neXtProt for ACRBP: NX_Q8NEB7

Explore proteomics data for ACRBP at MOPED

Post-translational modifications: 

  • The N-terminus is blocked (By similarity)1
  • Phosphorylated on Tyr residues in capacitated sperm (By similarity)1
  • Modification sites at neXtProt

  • See ACRBP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_115878.2  
    ENSEMBL proteins: 
     ENSP00000229243   ENSP00000402725   ENSP00000443153   ENSP00000445262   ENSP00000438656  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR002350 Kazal_dom
     IPR009865 Proacrosin-bd

    Graphical View of Domain Structure for InterPro Entry Q8NEB7

    ProtoNet protein and cluster: Q8NEB7


    ACRBP 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACRBP_HUMAN, Q8NEB7
    Function: May be involved in packaging and condensation of the acrosin zymogen in the acrosomal matrix via its
    association with proacrosin (By similarity)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    ACRBP for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ACRBP:
     Decreased viability with pacli 

         1 MGI mutant phenotype (inferred from 2 alleles(MGI details for Acrbp):
     reproductive system 

    ACRBP for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Acrbptm1Wen for ACRBP

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACRBP
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    4 qRT-PCR Assays for microRNAs that regulate ACRBP:
    hsa-miR-4314 hsa-miR-330-5p hsa-miR-3199 hsa-miR-326
    SwitchGear 3'UTR luciferase reporter plasmidACRBP 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ACRBP_HUMAN, Q8NEB7: Secreted (By similarity). Cytoplasmic vesicle, secretory vesicle, acrosome (By similarity).
    Note=Colocalizes with proacrosin in the acrosome of sperm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular3
    plasma membrane2
    endoplasmic reticulum1
    golgi apparatus1
    nucleus1
    vacuole1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001669acrosomal vesicle IEA--
    GO:0005575cellular_component ND--
    GO:0005576extracellular region IEA--

    ACRBP for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ACRBP
    Interactions:

        Search GeneGlobe Interaction Network for ACRBP

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    ACRBP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ACRBP



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ACRBP gene: 
    NM_032489.2  

    Unigene Cluster for ACRBP:

    Acrosin binding protein
    Hs.123239  [show with all ESTs]
    Unigene Representative Sequence: BC033010
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000540513(uc001qpt.1) ENST00000229243(uc001qpu.1 uc010sfg.1)
    ENST00000414226 ENST00000542357 ENST00000536350 ENST00000535884 ENST00000544352
    ENST00000546114 ENST00000538524
    miRNA
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    4 qRT-PCR Assays for microRNAs that regulate ACRBP:
    hsa-miR-4314 hsa-miR-330-5p hsa-miR-3199 hsa-miR-326
    SwitchGear 3'UTR luciferase reporter plasmidACRBP 3' UTR sequence
    Inhib. RNA
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ACRBP
      QuantiTect SYBR Green Assays in human, mouse, rat ACRBP
      QuantiFast Probe-based Assays in human, mouse, rat ACRBP

    Additional mRNA sequence: 

    AB051833.1 AF085884.1 AK302290.1 AK311572.1 AK312782.1 BC033010.2 

    7 DOTS entries:

    DT.75102228  DT.442027  DT.75191868  DT.95114006  DT.95153150  DT.95153152  DT.95153153 

    Selected AceView cDNA sequences (see all 139):

    NM_032489 BM553134 AI024421 BI520377 BI830966 NM_020400 BI520136 BI830306 
    BI830145 BI520181 BI829306 BC033010 AA769338 BI520382 BI828527 BI829361 
    BM553910 BI829508 BI829635 AJ272207 BI826973 BI828365 BM560468 BI832341 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ACRBP (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b
    SP1:                                                                                                        -                 -     -               
    SP2:                          -                                                                                                                     
    SP3:                          -                                                                                                                     
    SP4:                          -           -     -     -     -     -     -     -                                                                     
    SP5:                          -                 -                                                                                                   


    ECgene alternative splicing isoforms for ACRBP

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ACRBP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGATGTCTGC
    ACRBP Expression
    About this image

    ACRBP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACRBP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.123239

    UniProtKB/Swiss-Prot: ACRBP_HUMAN, Q8NEB7
    Tissue specificity: Expression restricted to testis in normal tissue. Expressed in a wide spectrum of cancers,
    including bladder, breast, liver, lung and colon cancers

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    In Situ
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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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for ACRBP gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acrbp1 , 5 proacrosin binding protein1, 5 80.95(n)1
    77.38(a)1
      6 (59.17 cM)5
    541371  NM_016845.21  NP_058541.21 
     1250496895 
    chicken
    (Gallus gallus)
    Aves ACRBP1 acrosin binding protein 56.93(n)
    45.53(a)
      418280  XM_004938112.1  XP_004938169.1 
    lizard
    (Anolis carolinensis)
    Reptilia ACRBP6
    acrosin binding protein
    35(a)
    1 ↔ 1
    GL343381.1(833624-846386)


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

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

    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ACRBP (see all 300)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1493120901,2
    C,F--6747454(+) CATCCG/TAACTG 2 L F mis11Minor allele frequency- T:0.00NA 4552
    rs2021277381,2
    --6747478(+) GTGCTA/GAACTC 2 F syn10--------
    rs1428573261,2
    C,F--6747495(+) CCATCG/AAAGCA 2 /R /* stg11Minor allele frequency- A:0.00NA 4552
    rs18825531,2
    C,F,O,A,H--6747578(+) ACACAC/GAGATT 1 -- int124Minor allele frequency- G:0.27EA MN NS NA WA CSA EU 3465
    rs354537561,2
    C--6747645(+) TGTCAG/TAAGCC 1 -- int11Minor allele frequency- T:0.00NA 2
    rs1891681831,2
    --6747659(+) AAGAAC/TGAGAG 1 -- int10--------
    rs1436093091,2
    --6747719(+) GTGGGC/TTTTTA 1 -- int10--------
    rs1480717651,2
    --6747775(+) CAGGCA/GGCTGA 1 -- int10--------
    rs1417348271,2
    --6747809(+) TCCCAC/GGCTAC 1 -- int10--------
    rs1808522291,2
    --6747831(+) GAAGAA/GGAGAC 1 -- int10--------

    HapMap Linkage Disequilibrium report for ACRBP (6747241 - 6756626 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for ACRBP:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509452CNV Insertion20534489
    nsv898635CNV Loss21882294
    nsv832322CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
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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.)
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    OMIM gene information: 608352    OMIM disorders: --

    2 diseases for ACRBP:    
    About MalaCards
    arteriolosclerosis    cowpox

    1 disease from the University of Copenhagen DISEASES database for ACRBP:
    Arteriolosclerosis

    ACRBP for disorders           About GeneDecksing


    Export disorders for ACRBP 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)
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    PubMed articles for ACRBP gene integrated from 10 sources:
    (articles sorted by number of sources associating them with ACRBP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of proacrosin binding protein sp32 precursor as a human cancer/testis antigen. (PubMed id 11248070)1, 2, 3, 9 Ono T.... Nakayama E. (Proc. Natl. Acad. Sci. U.S.A. 2001)
    2. 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. (Genome Res. 2004)
    3. Identification of an HLA-A24-restricted OY-TES-1 epitope recognized by cytotoxic T-cells. (PubMed id 16301813)1, 9 Okumura H....Nakayama E. (Microbiol. Immunol. 2005)
    4. Localization and identification of sumoylated proteins in human sperm: excessive sumoylation is a marker of defective spermatozoa. (PubMed id 23077236)1 Vigodner M....Callaway M. (Hum. Reprod. 2013)
    5. Knockdown of OY-TES-1 by RNAi causes cell cycle arrest and migration decrease in bone marrow-derived mesenchymal stem cells. (PubMed id 22651134)1 Cen Y.H....Xie X.X. (Cell Biol. Int. 2012)
    6. Tumor antigen acrosin binding protein normalizes mitotic spindle function to promote cancer cell proliferation. (PubMed id 20876808)1 Whitehurst A.W....White M.A. (Cancer Res. 2010)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    8. Identification of proteins undergoing tyrosine phosphorylation during mouse sperm capacitation. (PubMed id 18649259)9 Arcelay E....Visconti P.E. (Int. J. Dev. Biol. 2008)
    9. Direct effect of progestogen on gene expression in the testis during gonadotropin withdrawal and early suppression of spermatogenesis. (PubMed id 16621906)9 Walton M.J....Anderson R.A. (J. Clin. Endocrinol. Metab. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 84519 HGNC: 17195 AceView: GPR92andACRBP Ensembl:ENSG00000111644 euGenes: HUgn84519
    ECgene: ACRBP H-InvDB: ACRBP

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ACRBP Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ACRBP Genetics and Cytogenetics in Oncology and Haematology

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

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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