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Aliases for AP5B1 Gene

Aliases for AP5B1 Gene

  • Adaptor Related Protein Complex 5 Beta 1 Subunit 2 3 5
  • Adaptor-Related Protein Complex 5 Beta Subunit 3 4
  • Beta5 3 4
  • Adaptor-Related Protein Complex 5, Beta 1 Subunit 2
  • AP-5 Complex Subunit Beta-1 3
  • AP-5 Complex Subunit Beta 3
  • PP1030 3
  • AP-5 3

External Ids for AP5B1 Gene

Previous GeneCards Identifiers for AP5B1 Gene

  • GC11M065546

Summaries for AP5B1 Gene

GeneCards Summary for AP5B1 Gene

AP5B1 (Adaptor Related Protein Complex 5 Beta 1 Subunit) is a Protein Coding gene. Diseases associated with AP5B1 include Osteogenesis Imperfecta, Type Xii and Mental Retardation, X-Linked Syndromic 5.

UniProtKB/Swiss-Prot for AP5B1 Gene

  • As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport.

Additional gene information for AP5B1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AP5B1 Gene

Genomics for AP5B1 Gene

Regulatory Elements for AP5B1 Gene

Enhancers for AP5B1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H065414 2.2 FANTOM5 Ensembl ENCODE dbSUPER 18.4 +356.6 356621 18.8 MLX ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 SP3 MEF2D SF1 LOC105369352 ZFPL1 KAT5 SART1 MUS81 EIF1AD PCNX3 POLA2 SF3B2
GH11H065650 2 FANTOM5 Ensembl ENCODE dbSUPER 10.2 +128.1 128091 5.4 HDGF PKNOX1 FOXA2 ARID4B SIN3A ZBTB7B YY1 ZNF766 ZNF143 ZNF207 KAT5 SF1 SART1 MAP3K11 EHBP1L1 EIF1AD SF3B2 PCNX3 SIPA1 RNASEH2C
GH11H065470 2.7 VISTA FANTOM5 Ensembl ENCODE dbSUPER 6.6 +290.7 290719 40 MLX ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 SP3 MCM3 SF1 ZFPL1 POLA2 LOC105369352 SART1 PCNX3 EIF1AD KAT5 SF3B2 MUS81
GH11H066078 1.9 FANTOM5 Ensembl ENCODE dbSUPER 8 -301.0 -301008 7.5 HDGF PKNOX1 FOXA2 SIN3A YBX1 FEZF1 ZNF121 GATA2 ZNF143 FOS ENSG00000255320 SF3B2 SIPA1 LOC105369352 PACS1 ENSG00000254461 CST6 EIF1AD BANF1 RBM14
GH11H065288 1.9 FANTOM5 Ensembl ENCODE dbSUPER 6.6 +485.0 485005 14.5 PKNOX1 FOXA2 ATF1 ARID4B SIN3A DMAP1 BRCA1 ZNF766 FOS RUNX3 POLA2 EHD1 LOC728975 SLC25A45 DPF2 FRMD8 ENSG00000255478 SPDYC CAPN1 PGAM1P8
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AP5B1 on UCSC Golden Path with GeneCards custom track

Promoters for AP5B1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000040886 2 2001 ATF1 ARNT ARID4B SIN3A ZNF2 SLC30A9 GLIS2 CBX5 ELK1 ZNF207

Genomic Locations for AP5B1 Gene

Genomic Locations for AP5B1 Gene
chr11:65,773,898-65,780,802
(GRCh38/hg38)
Size:
6,905 bases
Orientation:
Minus strand
chr11:65,543,364-65,548,273
(GRCh37/hg19)

Genomic View for AP5B1 Gene

Genes around AP5B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AP5B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AP5B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AP5B1 Gene

Proteins for AP5B1 Gene

  • Protein details for AP5B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2VPB7-AP5B1_HUMAN
    Recommended name:
    AP-5 complex subunit beta-1
    Protein Accession:
    Q2VPB7
    Secondary Accessions:
    • A1L0S6
    • H6WUK2
    • Q0D2Q2
    • Q8N3J7
    • Q8WYH6

    Protein attributes for AP5B1 Gene

    Size:
    878 amino acids
    Molecular mass:
    93949 Da
    Quaternary structure:
    • Probably part of the adaptor protein complex 5 (AP-5), a tetramer composed of AP5B1, AP5M1, AP5S1 and AP5Z1. Interacts with ZFYVE26 and SPG11.
    SequenceCaution:
    • Sequence=AAG22468.1; Type=Miscellaneous discrepancy; Note=Sequencing errors.; Evidence={ECO:0000305}; Sequence=AAI09110.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI09111.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI26906.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI28057.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=EAW74438.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for AP5B1 Gene

Post-translational modifications for AP5B1 Gene

  • Ubiquitination at posLast=161161, posLast=214214, posLast=309309, and Lys674
  • Modification sites at PhosphoSitePlus

Other Protein References for AP5B1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AP5B1 Gene

Domains & Families for AP5B1 Gene

Gene Families for AP5B1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for AP5B1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with AP5B1: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for AP5B1 Gene

Function for AP5B1 Gene

Molecular function for AP5B1 Gene

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

Phenotypes From GWAS Catalog for AP5B1 Gene

Gene Ontology (GO) - Molecular Function for AP5B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20613862
genes like me logo Genes that share ontologies with AP5B1: view
genes like me logo Genes that share phenotypes with AP5B1: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AP5B1 Gene

Localization for AP5B1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AP5B1 gene
Compartment Confidence
lysosome 5
plasma membrane 2
extracellular 2
nucleus 2
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AP5B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane IDA 17897319
GO:0030119 AP-type membrane coat adaptor complex IDA 22022230
genes like me logo Genes that share ontologies with AP5B1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for AP5B1 Gene

Pathways & Interactions for AP5B1 Gene

SuperPathways for AP5B1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for AP5B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0015031 protein transport IEA --
GO:0016197 endosomal transport IMP 22022230
genes like me logo Genes that share ontologies with AP5B1: view

No data available for Pathways by source and SIGNOR curated interactions for AP5B1 Gene

Drugs & Compounds for AP5B1 Gene

No Compound Related Data Available

Transcripts for AP5B1 Gene

mRNA/cDNA for AP5B1 Gene

(1) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(27) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for AP5B1 Gene

Adaptor-related protein complex 5, beta 1 subunit:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AP5B1 Gene

No ASD Table

Relevant External Links for AP5B1 Gene

GeneLoc Exon Structure for
AP5B1
ECgene alternative splicing isoforms for
AP5B1

Expression for AP5B1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AP5B1 Gene

mRNA differential expression in normal tissues according to GTEx for AP5B1 Gene

This gene is overexpressed in Whole Blood (x14.6).

Protein differential expression in normal tissues from HIPED for AP5B1 Gene

This gene is overexpressed in Liver, secretome (21.8) and Bone (20.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for AP5B1 Gene



NURSA nuclear receptor signaling pathways regulating expression of AP5B1 Gene:

AP5B1

SOURCE GeneReport for Unigene cluster for AP5B1 Gene:

Hs.591957

Evidence on tissue expression from TISSUES for AP5B1 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with AP5B1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for AP5B1 Gene

Orthologs for AP5B1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for AP5B1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AP5B1 33
  • 99.28 (n)
cow
(Bos Taurus)
Mammalia AP5B1 33 34
  • 84.46 (n)
dog
(Canis familiaris)
Mammalia AP5B1 33 34
  • 83.77 (n)
mouse
(Mus musculus)
Mammalia Ap5b1 33 16 34
  • 78.91 (n)
rat
(Rattus norvegicus)
Mammalia Ap5b1 33
  • 78.3 (n)
oppossum
(Monodelphis domestica)
Mammalia AP5B1 34
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AP5B1 34
  • 37 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii AP5B1 34
  • 31 (a)
OneToOne
Species where no ortholog for AP5B1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AP5B1 Gene

ENSEMBL:
Gene Tree for AP5B1 (if available)
TreeFam:
Gene Tree for AP5B1 (if available)

Paralogs for AP5B1 Gene

No data available for Paralogs for AP5B1 Gene

Variants for AP5B1 Gene

Sequence variations from dbSNP and Humsavar for AP5B1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000029989 -- 65,775,772(+) AAACT(A/G)ACCCC utr-variant-3-prime
rs1000945797 -- 65,780,926(+) CTCGC(C/T)GCCTG upstream-variant-2KB
rs1001685979 -- 65,781,628(+) CGAGG(C/G)CGGGG upstream-variant-2KB
rs1002566490 -- 65,778,105(+) ACACG(A/G)CTCTC reference, synonymous-codon
rs1002639466 -- 65,777,012(+) GGCAG(A/G)CTGAG utr-variant-3-prime

Variation tolerance for AP5B1 Gene

Residual Variation Intolerance Score: 54.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.15; 93.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AP5B1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AP5B1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for AP5B1 Gene

Disorders for AP5B1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for AP5B1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
osteogenesis imperfecta, type xii
  • osteogenesis imperfecta type 12
mental retardation, x-linked syndromic 5
  • syndromic x-linked intellectual disability 5
- elite association - COSMIC cancer census association via MalaCards
Search AP5B1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for AP5B1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AP5B1
genes like me logo Genes that share disorders with AP5B1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AP5B1 Gene

Publications for AP5B1 Gene

  1. The fifth adaptor protein complex. (PMID: 22022230) Hirst J … Robinson MS (PLoS biology 2011) 2 3 4 60
  2. A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia. (PMID: 20613862) Słabicki M … Buchholz F (PLoS biology 2010) 3 4 60
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  4. Human Immunodeficiency Virus Type 2 (HIV-2) Gag Is Trafficked in an AP-3 and AP-5 Dependent Manner. (PMID: 27392064) Alford JE … Anderson EC (PloS one 2016) 3 60
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60

Products for AP5B1 Gene

Sources for AP5B1 Gene

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