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AP4B1 (adaptor-related protein complex 4, beta 1 subunit)

Identity

Alias_namesSPG47
spastic paraplegia 47
adaptor-related protein complex 4, beta 1 subunit
Alias_symbol (synonym)BETA-4
Other aliasCPSQ5
HGNC (Hugo) AP4B1
LocusID (NCBI) 10717
Atlas_Id 60407
Location 1p13.2  [Link to chromosome band 1p13]
Location_base_pair Starts at 114436817 and ends at 114447545 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
AP4B1 (1p13.2) / CSDE1 (1p13.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)AP4B1   572
Cards
Entrez_Gene (NCBI)AP4B1  10717  adaptor-related protein complex 4, beta 1 subunit
AliasesBETA-4; CPSQ5; SPG47
GeneCards (Weizmann)AP4B1
Ensembl hg19 (Hinxton)ENSG00000134262 [Gene_View]  chr1:114436817-114447545 [Contig_View]  AP4B1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000134262 [Gene_View]  chr1:114436817-114447545 [Contig_View]  AP4B1 [Vega]
ICGC DataPortalENSG00000134262
TCGA cBioPortalAP4B1
AceView (NCBI)AP4B1
Genatlas (Paris)AP4B1
WikiGenes10717
SOURCE (Princeton)AP4B1
Genetics Home Reference (NIH)AP4B1
Genomic and cartography
GoldenPath hg19 (UCSC)AP4B1  -     chr1:114436817-114447545 -  1p13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)AP4B1  -     1p13.2   [Description]    (hg38-Dec_2013)
EnsemblAP4B1 - 1p13.2 [CytoView hg19]  AP4B1 - 1p13.2 [CytoView hg38]
Mapping of homologs : NCBIAP4B1 [Mapview hg19]  AP4B1 [Mapview hg38]
OMIM607245   614066   
Gene and transcription
Genbank (Entrez)AB209817 AF092094 AI431352 AK001045 AK057567
RefSeq transcript (Entrez)NM_001253852 NM_001253853 NM_001308312 NM_006594
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_031901 NT_032977 NW_004929290
Consensus coding sequences : CCDS (NCBI)AP4B1
Cluster EST : UnigeneHs.736555 [ NCBI ]
CGAP (NCI)Hs.736555
Alternative Splicing GalleryENSG00000134262
Gene ExpressionAP4B1 [ NCBI-GEO ]   AP4B1 [ EBI - ARRAY_EXPRESS ]   AP4B1 [ SEEK ]   AP4B1 [ MEM ]
Gene Expression Viewer (FireBrowse)AP4B1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10717
GTEX Portal (Tissue expression)AP4B1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y6B7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y6B7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y6B7
Splice isoforms : SwissVarQ9Y6B7
PhosPhoSitePlusQ9Y6B7
Domains : Interpro (EBI)AP_beta    AP_complex_bsu_1_2_4    ARM-like    ARM-type_fold    B-adaptin_app_sub_C    Beta2_adaptin/TBP_C_dom    Clathrin/coatomer_adapt-like_N   
Domain families : Pfam (Sanger)Adaptin_N (PF01602)    B2-adapt-app_C (PF09066)   
Domain families : Pfam (NCBI)pfam01602    pfam09066   
Domain families : Smart (EMBL)B2-adapt-app_C (SM01020)  
Conserved Domain (NCBI)AP4B1
DMDM Disease mutations10717
Blocks (Seattle)AP4B1
PDB (SRS)2MJ7   
PDB (PDBSum)2MJ7   
PDB (IMB)2MJ7   
PDB (RSDB)2MJ7   
Structural Biology KnowledgeBase2MJ7   
SCOP (Structural Classification of Proteins)2MJ7   
CATH (Classification of proteins structures)2MJ7   
SuperfamilyQ9Y6B7
Human Protein AtlasENSG00000134262
Peptide AtlasQ9Y6B7
HPRD06259
IPIIPI00002150   IPI00922864   IPI00514624   IPI00515080   IPI00643929   IPI00640132   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y6B7
IntAct (EBI)Q9Y6B7
FunCoupENSG00000134262
BioGRIDAP4B1
STRING (EMBL)AP4B1
ZODIACAP4B1
Ontologies - Pathways
QuickGOQ9Y6B7
Ontology : AmiGOtransporter activity  protein binding  trans-Golgi network  coated pit  intracellular protein transport  post-Golgi vesicle-mediated transport  protein transporter activity  clathrin adaptor complex  endosome lumen  trans-Golgi network membrane  membrane organization  
Ontology : EGO-EBItransporter activity  protein binding  trans-Golgi network  coated pit  intracellular protein transport  post-Golgi vesicle-mediated transport  protein transporter activity  clathrin adaptor complex  endosome lumen  trans-Golgi network membrane  membrane organization  
Pathways : KEGGLysosome   
NDEx NetworkAP4B1
Atlas of Cancer Signalling NetworkAP4B1
Wikipedia pathwaysAP4B1
Orthology - Evolution
OrthoDB10717
GeneTree (enSembl)ENSG00000134262
Phylogenetic Trees/Animal Genes : TreeFamAP4B1
HOVERGENQ9Y6B7
HOGENOMQ9Y6B7
Homologs : HomoloGeneAP4B1
Homology/Alignments : Family Browser (UCSC)AP4B1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAP4B1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AP4B1
dbVarAP4B1
ClinVarAP4B1
1000_GenomesAP4B1 
Exome Variant ServerAP4B1
ExAC (Exome Aggregation Consortium)AP4B1 (select the gene name)
Genetic variants : HAPMAP10717
Genomic Variants (DGV)AP4B1 [DGVbeta]
DECIPHER (Syndromes)1:114436817-114447545  ENSG00000134262
CONAN: Copy Number AnalysisAP4B1 
Mutations
ICGC Data PortalAP4B1 
TCGA Data PortalAP4B1 
Broad Tumor PortalAP4B1
OASIS PortalAP4B1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAP4B1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAP4B1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch AP4B1
DgiDB (Drug Gene Interaction Database)AP4B1
DoCM (Curated mutations)AP4B1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AP4B1 (select a term)
intoGenAP4B1
Cancer3DAP4B1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607245    614066   
Orphanet20498   
MedgenAP4B1
Genetic Testing Registry AP4B1
NextProtQ9Y6B7 [Medical]
TSGene10717
GENETestsAP4B1
Huge Navigator AP4B1 [HugePedia]
snp3D : Map Gene to Disease10717
BioCentury BCIQAP4B1
ClinGenAP4B1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10717
Chemical/Pharm GKB GenePA24864
Clinical trialAP4B1
Miscellaneous
canSAR (ICR)AP4B1 (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAP4B1
EVEXAP4B1
GoPubMedAP4B1
iHOPAP4B1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 11:54:39 CET 2017

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