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

AP5B1 Gene

protein-coding   GIFtS: 33
GCID: GC11M065546

adaptor-related protein complex 5, beta 1 subunit

 Explore 4 diseases affiliated with
AP5B1 via our new
 Human Malady Compendium 
Biological research products
for AP5B1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Adaptor-Related Protein Complex 5, Beta 1 Subunit1 2     AP-5 Complex Subunit Beta-12
AP-51 2     Beta53
PP10301 2     Beta53
DKFZp761E1981     Adapter-Related Protein Complex 5 Beta Subunit3
AP-5 Complex Subunit Beta2     

External Ids:    HGNC: 251041   Entrez Gene: 910562   Ensembl: ENSG000002544707   OMIM: 6143675   UniProtKB: Q2VPB73   

Export aliases for AP5B1 gene to outside databases


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

UniProtKB/Swiss-Prot: AP5B1_HUMAN, Q2VPB7
Function: As part of AP-5, a probable fifth adapter protein complex it may be involved in endosomal transport




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_167190.1  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for AP5B1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAP5B1 promoter sequence
   Search SABiosciences Chromatin IP Primers for AP5B1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AP5B1


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

Entrez Gene cytogenetic band: 11q13.1   Ensembl cytogenetic band:  11q13.1   HGNC cytogenetic band: 11q13.1

AP5B1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AP5B1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M065546:  view genomic region     (about GC identifiers)

Start:
65,543,364 bp from pter      End:
65,548,273 bp from pter
Size:
4,910 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: AP5B1_HUMAN, Q2VPB7 (See protein sequence)
Recommended Name: AP-5 complex subunit beta-1  
Size: 878 amino acids; 93949 Da
Subunit: Probably part of the adapter protein complex 5 (AP-5) a tetramer composed of AP5B1, AP5M1, AP5S1 and AP5Z1.
Interacts with ZFYVE26 and SPG11
Sequence caution: Sequence=AAG22468.1; Type=Miscellaneous discrepancy; Note=Sequencing errors; Sequence=AAI09110.2;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAI09111.2; Type=Erroneous initiation;
Note=Translation N-terminally extended; Sequence=AAI26906.1; Type=Erroneous initiation; Note=Translation N-terminally
extended; Sequence=AAI28057.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=EAW74438.1;
Type=Erroneous gene model prediction;
Secondary accessions: A1L0S6 H6WUK2 Q0D2Q2 Q8N3J7 Q8WYH6

Explore the universe of human proteins at neXtProt for AP5B1: NX_Q2VPB7

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q2VPB7

  • AP5B1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_612377.4  
    ENSEMBL proteins: 
     ENSP00000454303  

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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:0030119AP-type membrane coat adaptor complex IDA--


    AP5B1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: Q2VPB7


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: AP5B1_HUMAN, Q2VPB7
    Function: As part of AP-5, a probable fifth adapter protein complex it may be involved in endosomal transport

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--


    AP5B1 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AP5B1

    5 Interacting proteins for AP5B1 (Q2VPB73) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALCOCO2Q131373I2D: score=3 
    PDLIM7Q9NR123I2D: score=3 
    KCNRGQ8N5I33I2D: score=2 
    LBX1P529543I2D: score=1 
    LDOC1O957513I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015031protein transport IEA--
    GO:0016197endosomal transport IMP--


    AP5B1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AP5B1
    Search CenterWatch for drugs/clinical trials and news about AP5B1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for AP5B1 gene: 
    NM_138368.4  

    Unigene Cluster for AP5B1:

    Adaptor-related protein complex 5, beta 1 subunit
    Hs.591957  [show with all ESTs]
    Unigene Representative Sequence: NM_138368
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000532090

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    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AP5B1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AP5B1

    Additional cDNA sequence: 

    AF193040.1 AL834269.1 BC004895.2 BC017264.2 BC109109.1 BC109110.1 BC126905.1 BC128056.1 
    JQ313135.1 

    7 DOTS entries:

    DT.442874  DT.120741525  DT.95093894  DT.95126631  DT.100670533  DT.40248085  DT.65284236 

    24/27 AceView cDNA sequences (see all 27):

    BM459721 BQ961856 BF897445 BQ772226 BV176927 N71581 BF880147 BQ677416 
    BF880159 BX509771 AI301608 CA774630 AI768162 N99573 BF901238 BF897614 
    BF508759 BX509188 BE163241 BF901322 R85225 BI519909 BF894483 BQ230221 

    GeneLoc Exon Structure


    (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

    AP5B1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCCACTTGCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See AP5B1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AP5B1

    SOURCE GeneReport for Unigene cluster: Hs.591957
        SABiosciences Custom PCR Arrays for AP5B1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP5B1

    (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 eukaryotes.

    Orthologs for AP5B1 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ap5b11 , 5 predicted gene 9625
    adaptor-related protein complex 5, beta 1 subunit1
    78.91(n)1
    78.26(a)1
      19 (4.34 cM)5
    3812011  NM_001033448.21  NP_001028620.11 
     55680745 
    lizard
    (Anolis carolinensis)
    Reptilia AP5B16
    --
    38(a)
    1 ↔ 1
    GL344689.1(16378-20420)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1001487721 uncharacterized protein DKFZp761E198 homolog 45.33(n)
    35.2(a)
      100148772  XM_001919219.3  XP_001919254.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G198706
    uncharacterized protein
    14(a)
    1 ↔ 1
    3(6907395-6911233)
    rice
    (Oryza sativa)
    Liliopsida --
    expressed protein
    18(a)
    1 ↔ 1
    2(35650923-35654667)


    ENSEMBL Gene Tree for AP5B1 (if available)
    TreeFam Gene Tree for AP5B1 (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, UniProtKB, 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

    10/147 NCBI SNPs in AP5B1 are shown (see all 147    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs4959611,2
    C,F,--65540886(-) CTTTGG/ATTGGA 1 -- ds500112Minor allele frequency- A:0.48NA WA CSA EA 378
    rs1465741591,2
    C,--65541016(+) ACGCC-/TGTAA 
            
    TCCCA
    1 -- ds50010--------
    rs2014642561,2
    --65541032(+) CACTT-/TGGGAGG 1 -- ds50010--------
    rs776393991,2
    --65541042(+) GGCTGG/AGGCGG 1 -- ds50011Minor allele frequency- A:0.00NA 2
    rs122751751,2
    C,--65541132(+) tagccG/Cggtgt 1 -- ds50011Minor allele frequency- C:0.50WA 2
    rs1835199041,2
    --65541133(+) AGCCGC/GGTGTG 1 -- ds50010--------
    rs1868452161,2
    --65541185(+) CAGGAC/GAATCA 1 -- ds50010--------
    rs25083031,2
    C,A,H,--65541215(-) TCACTG/TCAACC 1 -- ds50018Minor allele frequency- T:0.01EA NA CSA 185
    rs25098231,2
    C,H,--65541253(-) CTGTCG/ACCCAG 1 -- ds50019Minor allele frequency- A:0.06NA WA CSA 16
    rs1407152011,2
    --65541260(+) ACAGAC/GTAAGA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for AP5B1 (65543364 - 65548273 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for AP5B1: --

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    AP5B1 for disorders           About GeneDecksing

    OMIM gene information: 614367    OMIM disorders: --

    4 diseases for AP5B1:    About MalaCards
    hereditary spastic paraplegia    spastic paraplegia    paraplegia    spasticity


    Export disorders for AP5B1 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 AP5B1 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with AP5B1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The fifth adaptor protein complex. (PubMed id 22022230)1, 2, 3 Hirst J.... Robinson M.S. (2011)
    2. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    3. Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (2011)
    4. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    5. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    6. A genome-scale DNA repair RNAi screen identifies SPG4 8 as a novel gene associated with hereditary spastic paraplegia. (PubMed id 20613862)2 SA8abicki M....Buchholz F. (2010)
    7. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    8. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (2006)
    9. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)

    (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: 91056 HGNC: 25104 AceView: DKFZp761E198 Ensembl:ENSG00000254470 euGenes: HUgn91056
    ECgene: AP5B1 H-InvDB: AP5B1

    (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
      --

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for AP5B1 gene:
    Search GeneIP for patents involving AP5B1

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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),
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    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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    VWF
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    von Willebrand factor
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