Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

AP4B1 Gene

protein-coding   GIFtS: 54
GCID: GC01M114437

adaptor-related protein complex 4, beta 1 subunit

(Previous name: spastic paraplegia 47 )
(Previous symbol: SPG47)
 Explore 11 diseases affiliated with
AP4B1 via our new
 Human Malady Compendium 
Biological research products
for AP4B1
    

(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 4, Beta 1 Subunit1 2     Beta 4 Subunit Of AP-42
BETA-41 2     Beta4-Adaptin1
SPG471 2     Beta4-Adaptin1
Spastic Paraplegia 471 2     Adapter-Related Protein Complex 4 Subunit Beta-13
CPSQ52     AP-4 Adapter Complex Subunit Beta3
AP-4 Complex Subunit Beta-12     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for AP4B1:
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)

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


(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_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for AP4B1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, 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: AP4B1_HUMAN, Q9Y6B7 (See protein sequence)
Recommended Name: AP-4 complex subunit beta-1  
Size: 739 amino acids; 83260 Da
Subunit: Adapter-like 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
Subcellular location: Golgi apparatus, trans-Golgi network. Note=Associated with the trans-Golgi network. Found in soma
and dendritic shafts of neuronal cells
Sequence caution: Sequence=BAD93054.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q59EJ4 Q96CL6

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y6B7

  • AP4B1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: AP4B1
    OriGene Custom Protein Services for AP4B1 
    GenScript Custom Purified and Recombinant Proteins Services for AP4B1
    Novus Biologicals AP4B1 Protein
    Novus Biologicals AP4B1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005625soluble fraction ----
    GO:0005794Golgi apparatus IEA--
    GO:0005802trans-Golgi network IEA--
    GO:0030117membrane coat ----
    GO:0030131clathrin adaptor complex IEA--


    AP4B1 for ontologies           About GeneDecksing



    AP4B1 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for AP4B1 
    GenScript Custom Superior Antibodies Services for AP4B1
    Novus Biologicals AP4B1 Antibodies
    Search for Antibodies for AP4B1 at Abcam  
    Browse Antibodies at Uscn
    Search ThermoFisher Antibodies for AP4B1

    Assay Products for AP4B1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for AP4B1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs and CLIAs at Uscn


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

    AP4B1 for domains           About GeneDecksing

    5/7 InterPro domains/families (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 family: IPB002553 Adaptin

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


    (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: 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

    miRNA
    Products:
        
    Browse 3'-UTR reporter clones for miRNA target validation
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AP4B1
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate AP4B1
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AP4B1 (see all 7)
    OriGene shRNA RFP: AP4B1
    Browse OriGene siRNA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AP4B1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for AP4B1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AP4B1 (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AP4B1
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: AP4B1 (NM_006594)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AP4B1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AP4B1 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for AP4B1
    Search LifeMap BioReagents cell lines for AP4B1

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP4B1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity TAS10066790
    GO:0008565protein transporter activity IEA--


    AP4B1 for ontologies           About GeneDecksing


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

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

    AP4B1 for phenotypes           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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Clathrin derived vesicle budding
    trans-Golgi Network Vesicle Budding1.00
    Golgi Associated Vesicle Biogenesis0.89
    Clathrin derived vesicle budding1.00
    2Membrane Trafficking
    Membrane Trafficking1.00
    3Lysosome
    Lysosome1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    4        Reactome Pathways for AP4B1
        Membrane Trafficking
    Clathrin derived vesicle budding
    Golgi Associated Vesicle Biogenesis
    trans-Golgi Network Vesicle Budding


    1         Kegg Pathway  (Kegg details for AP4B1):
        Lysosome


    AP4B1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AP4B1

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

    5/47 Interacting proteins for AP4B1 (Q9Y6B73 ENSP000002566584) via UniProtKB, MINT, STRING, and/or I2D (see all 47)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AP4E1Q9UPM83, ENSP000002618424I2D: score=2 STRING: ENSP00000261842
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0006886intracellular protein transport IEA--
    GO:0016192vesicle-mediated transport IEA--


    AP4B1 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 AP4B1
    Search CenterWatch for drugs/clinical trials and news about AP4B1 

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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)


    miRNA
    Products:
         
    Browse 3'-UTR reporter clones for miRNA target validation
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AP4B1
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate AP4B1
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AP4B1 (see all 7)
    OriGene shRNA RFP: AP4B1
    Browse OriGene siRNA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AP4B1
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AP4B1 (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AP4B1
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: AP4B1 (NM_006594)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AP4B1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AP4B1 
    Primer
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AP4B1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat AP4B1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AP4B1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AP4B1

    Additional cDNA 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.302629  DT.95250757  DT.101958523 
    DT.40205034  DT.100664421  DT.100689730  DT.40293773  DT.95321586 

    24/167 AceView cDNA sequences (see all 167):

    BU681067 BM905253 BG533935 BQ717612 AI990383 Z45954 Z41571 BM835760 
    BM151133 AA968423 CA307639 AA383415 AI270746 BM830610 BQ574363 BM718497 
    CA952744 BU626203 AW466875 BM773419 BX439419 AL520924 AI803233 BM313638 

    GeneLoc Exon Structure

    5/20 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™, 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

    AP4B1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAAAGCATAC

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

    About this image
    See AP4B1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AP4B1

    SOURCE GeneReport for Unigene cluster: Hs.515048

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

        SABiosciences Custom PCR Arrays for AP4B1
    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AP4B1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat AP4B1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AP4B1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AP4B1
    In Situ
    Assay Products:
     

     
    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AP4B1 gene from 5/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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
    --
    77(a)
    1 ↔ 1
    4(129604682-129617408)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc638782 hypothetical protein MGC63878 74.3(n)   393309  BC053128.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G114901 beta-adaptin-like protein A 47.77(n)
    37.04(a)
      831021  NM_001203361.1  NP_001190290.1 
    rice
    (Oryza sativa)
    Liliopsida --
    adaptin, putative, expressed
    26(a)
    1 ↔ 1
    1(24993688-25001811)


    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)
    About This Section
    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

    AP4B1 for paralogs           About GeneDecksing



    (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

    10/242 NCBI SNPs in AP4B1 are shown (see all 242    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs111026951,2
    C,F,A,H,--112295177(+) ATAGAC/TGAGGT 3 -- ds500114Minor allele frequency- T:0.13NS EA NA WA 930
    rs120761151,2
    C,F,H,--112295503(+) CAGCCA/GTCTTT 3 -- ut3110Minor allele frequency- G:0.03NS EA NA WA 1212
    rs745942431,2
    --112296293(+) TTTTAC/TCCAAA 3 -- int10--------
    rs795612291,2
    C,F,--112296365(+) AACCTC/TTTTCT 3 -- int11Minor allele frequency- T:0.03EA 120
    rs1118309781,2
    --112296411(+) AGGTTT/CAGTGC 3 -- int12Minor allele frequency- C:0.02CSA WA 120
    rs780458461,2
    C,--112296756(+) CCCGTA/CCAGCC 6 G V mis10--------
    rs66952601,2
    C,F,H,--112297364(+) TACTCT/CCTACA 3 -- int14Minor allele frequency- C:0.01NS EA 420
    rs67039811,2
    C,F,--112297607(+) gccggG/Tcacgg 3 -- int11Minor allele frequency- T:0.07WA 118
    rs754145541,2
    F,--112297970(+) AAATCT/ATTGTA 3 -- int11Minor allele frequency- A:0.06WA 118
    rs120853971,2
    H--112299087(+) ttgcaG/Agaacc 3 -- int14Minor allele frequency- A:0.00NS EA 420

    HapMap Linkage Disequilibrium report for AP4B1 (114437370 - 114447823 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for AP4B1
         4 CNVs: 58325 2322 3306 64644
    Human Gene Mutation Database (HGMD): AP4B1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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.)
    About This Section

    AP4B1 for disorders           About GeneDecksing

    OMIM gene information: 607245    OMIM disorders: --

    UniProtKB/Swiss-Prot: AP4B1_HUMAN, Q9Y6B7
  • Defects in AP4B1 are the cause of cerebral palsy spastic quadriplegic type 5 (CPSQ5) [MIM:614066]. CPSQ5 is a
  • neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and
    severe mental retardation with poor or absent speech development

    11 diseases for AP4B1:    About MalaCards
    spasticity    cerebral palsy    spastic paraplegia    paraplegia
    cerebritis    short stature    hypertonia    intellectual disability
    hypotonia    malaria    neuronitis

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

    PubMed articles for AP4B1 gene, integrated from 9 sources (see all 15):
    (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. (1999)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (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. (2004)
    4. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (2012)
    5. Mutation in the AP4B1 gene cause hereditary spastic pa raplegia type 47 (SPG47) . (PubMed id 22290197)1 Bauer P....Schols L. (2012)
    6. Multivariate proteomic profiling identifies novel accessory proteins of coated vesicles. (PubMed id 22472443)2 Borner G.H.... Robinson M.S. (2012)
    7. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    8. 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. (2011)
    9. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    10. Large-scale mapping of human protein-protein interactions by mass spectrometry. (PubMed id 17353931)1 Ewing R.M.... Figeys D. (2007)

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

    (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 AP4B1 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 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, 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),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for AP4B1  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AP4B1   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AP4B1  
     OriGene Protein Over-expression Lysate for AP4B1   Browse OriGene Fluorogenic Cell Assay Kits  
     Browse OriGene siRNAs   Browse 3'-UTR reporter clones for miRNA target validation  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AP4B1   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AP4B1  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for AP4B1   OriGene Custom Protein Services for AP4B1  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat AP4B1
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AP4B1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AP4B1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AP4B1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AP4B1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AP4B1
     GenScript Custom Purified and Recombinant Proteins Services for AP4B1 GenScript cDNA clones with any tag delivered in your preferred vector for AP4B1
     GenScript Custom Assay Services for AP4B1 GenScript Custom Superior Antibodies Services for AP4B1
     GenScript Custom overexpressing Cell Line Services for AP4B1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in AP4B1 promoter
     Search Chromatin IP Primers for AP4B1
     RT2 qPCR Primer Assay in human, mouse, rat AP4B1
     Search GNC Networks for AP4B1
     SABiosciences Custom PCR Arrays for AP4B1
     Search Tocris compounds for AP4B1
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     AP4B1 antibodies
     AP4B1 proteins
     AP4B1 lysates
     Search for Antibodies for AP4B1 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for AP4B1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Browse ELISAs, CLIAs, Proteins, and Antibodies at Uscn
     Search LifeMap BioReagents cell lines for AP4B1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP4B1
     Browse SwitchGear 3'UTR luciferase reporter plasmids for AP4B1
     SwitchGear Promoter luciferase reporter plasmids for AP4B1
     Search ThermoFisher Antibodies for AP4B1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AP4B1
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    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 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      AP4B1 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4