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AP5Z1 (adaptor related protein complex 5 zeta 1 subunit)

Identity

Alias_namesKIAA0415
KIAA0415
adaptor-related protein complex 5, zeta 1 subunit
Alias_symbol (synonym)SPG48
zeta
Other alias
HGNC (Hugo) AP5Z1
LocusID (NCBI) 9907
Atlas_Id 47383
Location 7p22.1  [Link to chromosome band 7p22]
Location_base_pair Starts at 4815262 and ends at 4834026 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
C19orf43 (19p13.2) / AP5Z1 (7p22.1)

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)AP5Z1   22197
Cards
Entrez_Gene (NCBI)AP5Z1  9907  adaptor related protein complex 5 zeta 1 subunit
AliasesKIAA0415; SPG48; zeta
GeneCards (Weizmann)AP5Z1
Ensembl hg19 (Hinxton)ENSG00000242802 [Gene_View]  chr7:4815262-4834026 [Contig_View]  AP5Z1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000242802 [Gene_View]  chr7:4815262-4834026 [Contig_View]  AP5Z1 [Vega]
ICGC DataPortalENSG00000242802
TCGA cBioPortalAP5Z1
AceView (NCBI)AP5Z1
Genatlas (Paris)AP5Z1
WikiGenes9907
SOURCE (Princeton)AP5Z1
Genetics Home Reference (NIH)AP5Z1
Genomic and cartography
GoldenPath hg19 (UCSC)AP5Z1  -     chr7:4815262-4834026 +  7p22.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)AP5Z1  -     7p22.1   [Description]    (hg38-Dec_2013)
EnsemblAP5Z1 - 7p22.1 [CytoView hg19]  AP5Z1 - 7p22.1 [CytoView hg38]
Mapping of homologs : NCBIAP5Z1 [Mapview hg19]  AP5Z1 [Mapview hg38]
OMIM613647   613653   
Gene and transcription
Genbank (Entrez)AB007875 AK092068 BC008841 BC014240 BC037399
RefSeq transcript (Entrez)NM_014855
RefSeq genomic (Entrez)NC_000007 NC_018918 NG_028111 NT_007819 NW_004929329
Consensus coding sequences : CCDS (NCBI)AP5Z1
Cluster EST : UnigeneHs.558440 [ NCBI ]
CGAP (NCI)Hs.558440
Alternative Splicing GalleryENSG00000242802
Gene ExpressionAP5Z1 [ NCBI-GEO ]   AP5Z1 [ EBI - ARRAY_EXPRESS ]   AP5Z1 [ SEEK ]   AP5Z1 [ MEM ]
Gene Expression Viewer (FireBrowse)AP5Z1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9907
GTEX Portal (Tissue expression)AP5Z1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43299   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43299  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43299
Splice isoforms : SwissVarO43299
PhosPhoSitePlusO43299
Domains : Interpro (EBI)AP5Z1   
Domain families : Pfam (Sanger)SPG48 (PF14764)   
Domain families : Pfam (NCBI)pfam14764   
Conserved Domain (NCBI)AP5Z1
DMDM Disease mutations9907
Blocks (Seattle)AP5Z1
SuperfamilyO43299
Human Protein AtlasENSG00000242802
Peptide AtlasO43299
IPIIPI00872712   IPI00807569   IPI00465123   
Protein Interaction databases
DIP (DOE-UCLA)O43299
IntAct (EBI)O43299
FunCoupENSG00000242802
BioGRIDAP5Z1
STRING (EMBL)AP5Z1
ZODIACAP5Z1
Ontologies - Pathways
QuickGOO43299
Ontology : AmiGOdouble-strand break repair via homologous recombination  protein binding  nucleus  nucleoplasm  cytoplasm  protein transport  endosomal transport  AP-type membrane coat adaptor complex  AP-5 adaptor complex  
Ontology : EGO-EBIdouble-strand break repair via homologous recombination  protein binding  nucleus  nucleoplasm  cytoplasm  protein transport  endosomal transport  AP-type membrane coat adaptor complex  AP-5 adaptor complex  
NDEx NetworkAP5Z1
Atlas of Cancer Signalling NetworkAP5Z1
Wikipedia pathwaysAP5Z1
Orthology - Evolution
OrthoDB9907
GeneTree (enSembl)ENSG00000242802
Phylogenetic Trees/Animal Genes : TreeFamAP5Z1
HOVERGENO43299
HOGENOMO43299
Homologs : HomoloGeneAP5Z1
Homology/Alignments : Family Browser (UCSC)AP5Z1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAP5Z1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AP5Z1
dbVarAP5Z1
ClinVarAP5Z1
1000_GenomesAP5Z1 
Exome Variant ServerAP5Z1
ExAC (Exome Aggregation Consortium)AP5Z1 (select the gene name)
Genetic variants : HAPMAP9907
Genomic Variants (DGV)AP5Z1 [DGVbeta]
DECIPHER (Syndromes)7:4815262-4834026  ENSG00000242802
CONAN: Copy Number AnalysisAP5Z1 
Mutations
ICGC Data PortalAP5Z1 
TCGA Data PortalAP5Z1 
Broad Tumor PortalAP5Z1
OASIS PortalAP5Z1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDAP5Z1
BioMutasearch AP5Z1
DgiDB (Drug Gene Interaction Database)AP5Z1
DoCM (Curated mutations)AP5Z1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AP5Z1 (select a term)
intoGenAP5Z1
Cancer3DAP5Z1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613647    613653   
Orphanet21221   
MedgenAP5Z1
Genetic Testing Registry AP5Z1
NextProtO43299 [Medical]
TSGene9907
GENETestsAP5Z1
Huge Navigator AP5Z1 [HugePedia]
snp3D : Map Gene to Disease9907
BioCentury BCIQAP5Z1
ClinGenAP5Z1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9907
Chemical/Pharm GKB GenePA162392841
Clinical trialAP5Z1
Miscellaneous
canSAR (ICR)AP5Z1 (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAP5Z1
EVEXAP5Z1
GoPubMedAP5Z1
iHOPAP5Z1
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 12:56:02 CET 2017

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