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AP4B1 Gene

protein-coding   GIFtS: 57
GCID: GC01M114437

Adaptor-Related Protein Complex 4, Beta 1 Subunit

(Previous name: spastic paraplegia 47)
(Previous symbol: SPG47)
  See AP4B1-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
Adaptor-Related Protein Complex 4, Beta 1 Subunit1 2     AP-4 Complex Subunit Beta-12
SPG471 2 5     beta4-adaptin2
Spastic Paraplegia 471 2     Beta4-adaptin3
Beta 4 Subunit Of AP-41 2     Adapter-Related Protein Complex 4 Subunit Beta-13
CPSQ52 5     AP-4 Adapter Complex Subunit Beta3
BETA-42     Beta Subunit Of AP-43

External Ids:    HGNC: 5721   Entrez Gene: 107172   Ensembl: ENSG000001342627   OMIM: 6072455   UniProtKB: Q9Y6B73   

Export aliases for AP4B1 gene to outside databases

Previous GC identifers: GC01M114851 GC01M113319 GC01M113537 GC01M113736 GC01M114149 GC01M114239 GC01M112295


(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 AP4B1 Gene:
This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins
from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with
cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding
different isoforms have been found for this gene. (provided by RefSeq, Dec 2011)

GeneCards Summary for AP4B1 Gene:
AP4B1 (adaptor-related protein complex 4, beta 1 subunit) is a protein-coding gene. Diseases associated with AP4B1 include spastic paraplegia 47, autosomal recessive, and cerebral palsy. GO annotations related to this gene include protein transporter activity and transporter activity. An important paralog of this gene is AP2B1.

UniProtKB/Swiss-Prot: AP4B1_HUMAN, Q9Y6B7
Function: Subunit of novel type of clathrin- or non-clathrin-associated protein coat involved in targeting
proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system

Gene Wiki entry for AP4B1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the AP4B1 gene promoter:
         Bach2   Lmo2   Nkx2-5   Max   HEN1   PPAR-gamma1   Zic1   HFH-1   PPAR-gamma2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAP4B1 promoter sequence
   Search Chromatin IP Primers for AP4B1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AP4B1


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

Entrez Gene cytogenetic band: 1p13.2   Ensembl cytogenetic band:  1p13.2   HGNC cytogenetic band: 1p13.2

AP4B1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AP4B1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M114437:  view genomic region     (about GC identifiers)

Start:
114,437,370 bp from pter      End:
114,447,823 bp from pter
Size:
10,454 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: AP4B1_HUMAN, Q9Y6B7 (See protein sequence)
Recommended Name: AP-4 complex subunit beta-1  
Size: 739 amino acids; 83260 Da
Subunit: Adaptor protein complex 4 (AP-4) is a heterotetramer composed of two large adaptins (epsilon-type subunit
AP4E1 and beta-type subunit AP4B1), a medium adaptin (mu-type subunit AP4M1) and a small adaptin (sigma-type
AP4S1). Interacts with ENTHD2; this interaction requires the presence of a functional AP-4 complex
Sequence caution: Sequence=BAD93054.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
1 PDB 3D structure from and Proteopedia for AP4B1:
2MJ7 (3D)    
Secondary accessions: Q59EJ4 Q96CL6

Explore the universe of human proteins at neXtProt for AP4B1: NX_Q9Y6B7

Explore proteomics data for AP4B1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys577
  • Modification sites at PhosphoSitePlus

  • See AP4B1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001240781.1  NP_001240782.1  NP_006585.2  

    ENSEMBL proteins: 
     ENSP00000358580   ENSP00000358582   ENSP00000256658   ENSP00000358577   ENSP00000393622  
     ENSP00000358584   ENSP00000358579  
    Reactome Protein details: Q9Y6B7

    AP4B1 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
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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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    Selected InterPro protein domains (see all 7):
     IPR011989 ARM-like
     IPR002553 Clathrin/coatomer_adapt-like_N
     IPR015151 B-adaptin_app_sub_C
     IPR012295 Beta2_adaptin/TBP_C_dom
     IPR026739 AP_beta

    Graphical View of Domain Structure for InterPro Entry Q9Y6B7

    ProtoNet protein and cluster: Q9Y6B7

    1 Blocks protein domain: IPB002553 Adaptin

    UniProtKB/Swiss-Prot: AP4B1_HUMAN, Q9Y6B7
    Similarity: Belongs to the adaptor complexes large subunit family


    Find genes that share domains with AP4B1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AP4B1_HUMAN, Q9Y6B7
    Function: Subunit of novel type of clathrin- or non-clathrin-associated protein coat involved in targeting
    proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity TAS10066790
    GO:0005488binding ----
    GO:0008565protein transporter activity IEA--
         
    Find genes that share ontologies with AP4B1           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for AP4B1:
     Downregulation of NF-kappaB pa  Downregulation of NF-kappaB pa  Increased HPV18 LCR reporter a 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ap4b1):
     behavior/neurological  nervous system 

    Find genes that share phenotypes with AP4B1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AP4B1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AP4B1
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    miRNA
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    hsa-mir-23b-3p (MIRT046304), hsa-mir-378a-5p (MIRT043998)

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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
    AP4B1_HUMAN, Q9Y6B7: Golgi apparatus, trans-Golgi network. Membrane, coated pit (By similarity). Note=Associated
    with the trans-Golgi network. Found in soma and dendritic shafts of neuronal cells
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus3
    cytosol2
    nucleus2
    plasma membrane2
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus IEA--
    GO:0005802trans-Golgi network IEA--
    GO:0005905coated pit IEA--
    GO:0030117membrane coat ----
    GO:0030131clathrin adaptor complex IEA--

    Find genes that share ontologies with AP4B1           About GenesLikeMe


    (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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    SuperPaths for AP4B1 About    
    See pathways by source

    SuperPathContained pathways About
    1Clathrin derived vesicle budding
    Clathrin derived vesicle budding0.89
    trans-Golgi Network Vesicle Budding0.89
    Golgi Associated Vesicle Biogenesis0.89
    Membrane Trafficking0.32
    2Lysosome
    Lysosome


    Find genes that share SuperPaths with AP4B1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for AP4B1
        Golgi Associated Vesicle Biogenesis


    1 Kegg Pathway  (Kegg details for AP4B1):
        Lysosome

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AP4B1
    Interactions:

        Search GeneGlobe Interaction Network for AP4B1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for AP4B1 (Q9Y6B73 ENSP000002566584) via UniProtKB, MINT, STRING, and/or I2D (see all 113)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    AP4E1Q9UPM83, ENSP000002618424I2D: score=2 STRING: ENSP00000261842
    AP4M1O001893, ENSP000003526034I2D: score=1 STRING: ENSP00000352603
    BUB1O436833, ENSP000003025304I2D: score=1 STRING: ENSP00000302530
    BUB1BO605663, ENSP000002875984I2D: score=1 STRING: ENSP00000287598
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport IEA--
    GO:0015031protein transport ----
    GO:0016192vesicle-mediated transport IEA--

    Find genes that share ontologies with AP4B1           About GenesLikeMe



    (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 AP4B1



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for AP4B1 gene (3 alternative transcripts): 
    NM_001253852.1  NM_001253853.1  NM_006594.3  

    Unigene Cluster for AP4B1:

    Adaptor-related protein complex 4, beta 1 subunit
    Hs.515048  [show with all ESTs]
    Unigene Representative Sequence: NM_006594
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369567 ENST00000369569(uc001eeb.3 uc001eec.3) ENST00000256658(uc010owp.2 uc001eed.3)
    ENST00000479285(uc001eea.1) ENST00000462591(uc001eee.1) ENST00000479801
    ENST00000484201 ENST00000460653 ENST00000369564 ENST00000489499 ENST00000432415
    ENST00000489092 ENST00000369571 ENST00000472122 ENST00000369566(uc010owq.2)

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      QuantiTect SYBR Green Assays in human, mouse, rat AP4B1
      QuantiFast Probe-based Assays in human, mouse, rat AP4B1

    Additional mRNA sequence: 

    AB209817.1 AF092094.1 AK001045.1 AK057567.1 AK093740.1 AK298037.1 AK300204.1 AK314641.1 
    BC014146.2 

    21 DOTS entries:

    DT.100682194  DT.100685471  DT.100774945  DT.95300298  DT.215048  DT.100726542  DT.95099109  DT.97789515 
    DT.100689732  DT.95099111  DT.97802595  DT.100740237  DT.121428297  DT.101958523  DT.302629  DT.95250757 
    DT.100664421  DT.40205034  DT.100689730  DT.40293773  DT.95321586 

    Selected AceView cDNA sequences (see all 167):

    CD679577 AI990383 AA232060 BM313638 BM718497 AA866143 BP339315 AA481045 
    Z41571 AI270746 CA841764 AA383415 BU674659 AK001045 AI803233 CA307639 
    BX439419 BM683542 BM835760 BM151133 AL520924 AW075792 CA952744 BU626203 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for AP4B1 (see all 20)    About this scheme

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

    ExUns: 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b
    SP1:  -                 -           -           -                           
    SP2:  -                 -           -           -                           
    SP3:                                                                        
    SP4:  -     -           -                                                   
    SP5:                                                                        


    ECgene alternative splicing isoforms for AP4B1

    (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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    AP4B1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAAGCATAC
    AP4B1 Expression
    About this image

    AP4B1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AP4B1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.515048

    UniProtKB/Swiss-Prot: AP4B1_HUMAN, Q9Y6B7
    Tissue specificity: Widely expressed

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP4B1

    (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 eukaryotes.

    Orthologs for AP4B1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ap4b11 , 5 adaptor-related protein complex AP-4, beta 11, 5 87.35(n)1
    91.19(a)1
      3 (45.52 cM)5
    674891  NM_001163552.11  NP_001157024.11 
     1038095205 
    chicken
    (Gallus gallus)
    Aves AP4B11 adaptor-related protein complex 4, beta 1 subunit 69.79(n)
    74.48(a)
      419879  NM_001030917.1  NP_001026088.1 
    lizard
    (Anolis carolinensis)
    Reptilia AP4B16
    adaptor-related protein complex 4, beta 1 subunit
    76(a)
    1 ↔ 1
    4(129600315-129619698)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ap4b11 adaptor-related protein complex 4, beta 1 subunit 65.32(n)
    68.29(a)
      100495149  XM_002932132.2  XP_002932178.2 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc638782 hypothetical protein MGC63878 74.3(n)   393309  BC053128.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes APL26
    Beta-adaptin, large subunit of the clathrin-associ...
    20(a)
    1 → many
    XI(186460-188640) YKL135C
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G114901 AT5G11490 48.1(n)
    38.05(a)
      831021  NM_121187.3  NP_196710.1 


    ENSEMBL Gene Tree for AP4B1 (if available)
    TreeFam Gene Tree for AP4B1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AP4B1 gene
    AP2B12  AP1B12  
    3 SIMAP similar genes for AP4B1 using alignment to 6 protein entries:     AP4B1_HUMAN (see all proteins):
    DKFZp781K0743    AP1B1    AP2B1

    Find genes that share paralogs with AP4B1           About GenesLikeMe



    (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)
    About This Section

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    Selected SNPs for AP4B1 (see all 352)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs353709601,2
    C,F--114505913(+) AAAATG/CTGGTC 3 -- ds50013Minor allele frequency- C:0.04NA 124
    rs107453401,2
    C,F,A,H--114506004(+) TTTGAT/CAGCTT 3 -- ds500119Minor allele frequency- C:0.36NS EA NA WA 2346
    rs1162446911,2
    F--114506039(+) TGAGGG/ATTAAA 3 -- ds50011Minor allele frequency- A:0.03WA 118
    rs111026951,2
    C,F,A,H--114506094(+) atagaC/Tgaggt 3 -- ds500114Minor allele frequency- T:0.13NS EA NA WA 930
    rs1835811081,2
    --114506102(+) GGTGTC/TAATTC 3 -- ds50010--------
    rs1466077411,2
    --114506106(+) TTAATG/TCAAGA 3 -- ds50010--------
    rs1885161421,2
    --114506140(+) CCAGGA/CAATAA 3 -- ds50010--------
    rs120761151,2
    C,F,H--114506420(+) CAGCCA/GTCTTT 3 -- ut3110Minor allele frequency- G:0.03NS EA NA WA 1212
    rs1928453901,2
    C--114506704(+) CTAGAC/GAAGCA 3 -- ut310--------
    rs790509561,2
    C--114506741(+) TTCAAC/TTGTTC 6 I V mis10--------

    HapMap Linkage Disequilibrium report for AP4B1 (114437370 - 114447823 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for AP4B1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv819786CNV Loss19587683
    esv23869CNV Loss19812545

    Human Gene Mutation Database (HGMD): AP4B1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AP4B1
    DNA2.0 Custom Variant and Variant Library Synthesis for AP4B1

    (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.)
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    OMIM gene information: 607245   
    OMIM disorders: 614066  
    UniProtKB/Swiss-Prot: AP4B1_HUMAN, Q9Y6B7
  • Cerebral palsy, spastic quadriplegic 5 (CPSQ5) [MIM:614066]: A neurodevelopmental disorder characterized
    by neonatal hypotonia that progresses to hypertonia and spasticity, and severe mental retardation with poor or
    absent speech development. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 3 diseases for AP4B1:    
    About MalaCards
    spastic paraplegia 47, autosomal recessive    cerebral palsy    spastic paraplegia 50, autosomal recessive

    1 disease from the University of Copenhagen DISEASES database for AP4B1:
    Paraplegia

    Find genes that share disorders with AP4B1           About GenesLikeMe

    Genetic Association Database (GAD): AP4B1
    Human Genome Epidemiology (HuGE) Navigator: AP4B1 (1 document)

    Export disorders for AP4B1 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

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    PubMed articles for AP4B1 gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with AP4B1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. AP-4, a novel protein complex related to clathrin adaptors. (PubMed id 10066790)1, 2, 3 Dell'Angelica E.C.... Bonifacino J.S. (J. Biol. Chem. 1999)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    3. 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)
    4. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. (PubMed id 23535729)1 Michailidou K....Easton D.F. (Nat. Genet. 2013)
    5. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (J. Cell. Sci. 2012)
    6. Multivariate proteomic profiling identifies novel accessory proteins of coated vesicles. (PubMed id 22472443)2 Borner G.H.... Robinson M.S. (J. Cell Biol. 2012)
    7. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (PLoS ONE 2012)
    8. Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) . (PubMed id 22290197)1 Bauer P....SchAPls L. (Neurogenetics 2012)
    9. Adaptor protein complex 4 deficiency causes severe autosomal- recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. (PubMed id 21620353)2 Abou Jamra R.... Colleaux L. (Am. J. Hum. Genet. 2011)
    10. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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

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    Entrez Gene: 10717 HGNC: 572 AceView: AP4B1 Ensembl:ENSG00000134262 euGenes: HUgn10717
    ECgene: AP4B1 Kegg: 10717 H-InvDB: AP4B1

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for AP4B1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for AP4B1 gene:
    Search GeneIP for patents involving AP4B1

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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