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Aliases for AP5B1 Gene

Aliases for AP5B1 Gene

  • Adaptor Related Protein Complex 5 Subunit Beta 1 2 3
  • 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 Subunit Beta 1) is a Protein Coding gene. Diseases associated with AP5B1 include Hereditary Spastic Paraplegia and Osteogenesis Imperfecta, Type Xii.

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

GeneHancer (GH) Regulatory Elements for AP5B1 Gene

Promoters and enhancers for AP5B1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J065774 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 655.6 +2.4 2395 8.8 ARNT ARID4B SIN3A ZNF2 YY1 SLC30A9 POLR2B CBX5 ZNF207 ZNF143 AP5B1 RBM14 ENSG00000258297 LOC105369352 RBM4 SF1 SF3B2 ENSG00000254461 PCNX3 ZFPL1
GH11J065414 Promoter/Enhancer 2.4 FANTOM5 Ensembl ENCODE dbSUPER 18.4 +356.6 356621 18.8 CLOCK MLX ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 NEAT1 ENSG00000277599 ENSG00000278050 ENSG00000278144 GC11P065538 SF1 LOC105369352 ZFPL1 POLA2 EIF1AD
GH11J065470 Promoter/Enhancer 2.9 VISTA FANTOM5 Ensembl ENCODE dbSUPER 6.6 +290.7 290718 40 CLOCK MLX ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 LOC105369346 SF1 POLA2 PCNX3 ZFPL1 EIF1AD SART1 LOC105369352 MUS81 KAT5
GH11J065650 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.2 +128.1 128090 5.4 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A ZBTB7B YY1 POLR2B GC11P065653 GC11P065719 GC11P065720 PIR38401 PIR32368 PIR54939 RBM14 PCNX3 EIF1AD POLA2
GH11J065288 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.6 +485.0 485005 14.5 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 BRCA1 ZNF48 ETS1 ZNF766 FOS CDC42EP2 POLA2 EHD1 LOC728975 SLC25A45 DPF2 FRMD8 ENSG00000255478 SPDYC PGAM1P8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AP5B1 on UCSC Golden Path with GeneCards custom track

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)
Size:
4,910 bases
Orientation:
Minus strand

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 Lys674, posLast=309309, posLast=214214, and posLast=161161
  • 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

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

Animal Model Products

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
cytoskeleton 1
cytosol 1
endosome 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 IBA,HDA --
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: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 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 34 33
  • 84.46 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AP5B1 34 33
  • 83.77 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ap5b1 16 34 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for AP5B1: view image

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 Variation AA Info Type
rs201041158 uncertain-significance, Hereditary spastic paraplegia 65,779,292(-) G/A coding_sequence_variant, missense_variant
rs375914619 uncertain-significance, Hereditary spastic paraplegia 65,778,702(-) C/G/T coding_sequence_variant, missense_variant, synonymous_variant
rs1000029989 -- 65,775,772(-) G/A 3_prime_UTR_variant
rs1000945797 -- 65,780,926(-) C/T upstream_transcript_variant
rs1001685979 -- 65,781,628(-) G/C upstream_transcript_variant

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)

Additional Variant Information for AP5B1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

(3) MalaCards diseases for AP5B1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hereditary spastic paraplegia
  • spastic paraplegia 3, autosomal dominant
osteogenesis imperfecta, type xii
  • oi12
pettigrew syndrome
  • pgs
- elite association - COSMIC cancer census association via MalaCards
Search AP5B1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 58
  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 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  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 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for AP5B1 Gene

Sources for AP5B1 Gene

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