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Aliases for AP4B1 Gene

Aliases for AP4B1 Gene

  • Adaptor Related Protein Complex 4 Beta 1 Subunit 2 3
  • Adaptor-Related Protein Complex 4, Beta 1 Subunit 2 3
  • Adaptor Related Protein Complex 4, Beta 1 Subunit 3 5
  • AP-4 Adaptor Complex Subunit Beta 3 4
  • Beta 4 Subunit Of AP-4 2 3
  • Spastic Paraplegia 47 2 3
  • Beta4-Adaptin 3 4
  • Adaptor-Related Protein Complex 4 Subunit Beta-1 4
  • AP-4 Complex Subunit Beta-1 2
  • Beta Subunit Of AP-4 4
  • BETA-4 3
  • CPSQ5 3
  • SPG47 3

External Ids for AP4B1 Gene

Previous HGNC Symbols for AP4B1 Gene

  • SPG47

Previous GeneCards Identifiers for AP4B1 Gene

  • GC01M114851
  • GC01M113319
  • GC01M113537
  • GC01M113736
  • GC01M114149
  • GC01M114239
  • GC01M114437
  • GC01M112295

Summaries for AP4B1 Gene

Entrez Gene Summary for AP4B1 Gene

  • 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]

GeneCards Summary for AP4B1 Gene

AP4B1 (Adaptor Related Protein Complex 4 Beta 1 Subunit) is a Protein Coding gene. Diseases associated with AP4B1 include spastic paraplegia 47, autosomal recessive and severe intellectual disability and progressive spastic paraplegia. Among its related pathways are Lysosome and Vesicle-mediated transport. GO annotations related to this gene include binding and protein transporter activity. An important paralog of this gene is AP1B1.

UniProtKB/Swiss-Prot for AP4B1 Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AP4B1 Gene

Genomics for AP4B1 Gene

Regulatory Elements for AP4B1 Gene

Promoters for AP4B1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AP4B1 on UCSC Golden Path with GeneCards custom track

Genomic Location for AP4B1 Gene

Chromosome:
1
Start:
113,894,748 bp from pter
End:
113,905,206 bp from pter
Size:
10,459 bases
Orientation:
Minus strand

Genomic View for AP4B1 Gene

Genes around AP4B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AP4B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AP4B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AP4B1 Gene

Proteins for AP4B1 Gene

  • Protein details for AP4B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6B7-AP4B1_HUMAN
    Recommended name:
    AP-4 complex subunit beta-1
    Protein Accession:
    Q9Y6B7
    Secondary Accessions:
    • B7Z4X3
    • Q59EJ4
    • Q96CL6

    Protein attributes for AP4B1 Gene

    Size:
    739 amino acids
    Molecular mass:
    83260 Da
    Quaternary structure:
    • Adaptor protein 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.
    SequenceCaution:
    • Sequence=BAD93054.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AP4B1 Gene

    Alternative splice isoforms for AP4B1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AP4B1 Gene

Proteomics data for AP4B1 Gene at MOPED

Post-translational modifications for AP4B1 Gene

  • Ubiquitination at Lys 577
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for AP4B1

No data available for DME Specific Peptides for AP4B1 Gene

Domains & Families for AP4B1 Gene

Suggested Antigen Peptide Sequences for AP4B1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y6B7

UniProtKB/Swiss-Prot:

AP4B1_HUMAN :
  • Belongs to the adaptor complexes large subunit family.
Family:
  • Belongs to the adaptor complexes large subunit family.
genes like me logo Genes that share domains with AP4B1: view

No data available for Gene Families for AP4B1 Gene

Function for AP4B1 Gene

Molecular function for AP4B1 Gene

UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for AP4B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005488 binding IEA --
genes like me logo Genes that share ontologies with AP4B1: view
genes like me logo Genes that share phenotypes with AP4B1: view

Human Phenotype Ontology for AP4B1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AP4B1 Gene

MGI Knock Outs for AP4B1:

Animal Model Products

  • Taconic Biosciences Mouse Models for AP4B1

miRNA for AP4B1 Gene

miRTarBase miRNAs that target AP4B1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for AP4B1 Gene

Localization for AP4B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AP4B1 Gene

Golgi apparatus, trans-Golgi network. Membrane, coated pit. Note=Associated with the trans-Golgi network. Found in soma and dendritic shafts of neuronal cells.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AP4B1 Gene COMPARTMENTS Subcellular localization image for AP4B1 gene
Compartment Confidence
endosome 4
golgi apparatus 4
cytosol 2
nucleus 2
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for AP4B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030131 clathrin adaptor complex IEA --
GO:0031904 endosome lumen TAS --
genes like me logo Genes that share ontologies with AP4B1: view

Pathways & Interactions for AP4B1 Gene

genes like me logo Genes that share pathways with AP4B1: view

Pathways by source for AP4B1 Gene

Gene Ontology (GO) - Biological Process for AP4B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0061024 membrane organization TAS --
genes like me logo Genes that share ontologies with AP4B1: view

No data available for SIGNOR curated interactions for AP4B1 Gene

Drugs & Compounds for AP4B1 Gene

No Compound Related Data Available

Transcripts for AP4B1 Gene

Unigene Clusters for AP4B1 Gene

Adaptor-related protein complex 4, beta 1 subunit:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AP4B1 Gene

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: - - - - -
SP6: - - - - - -
SP7: - - -
SP8: - - - - - - - -
SP9: - - - - - - - - - - -
SP10: - - - - -
SP11: - - - -
SP12: -
SP13:
SP14: - - - - - - - - - - - -
SP15:
SP16:
SP17:
SP18:
SP19:
SP20: - - - -

ExUns: 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b
SP1: - - - -
SP2: - - - -
SP3:
SP4: - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: - - -
SP13: - - -
SP14:
SP15:
SP16:
SP17: -
SP18: -
SP19:
SP20:

Relevant External Links for AP4B1 Gene

GeneLoc Exon Structure for
AP4B1
ECgene alternative splicing isoforms for
AP4B1

Expression for AP4B1 Gene

mRNA expression in normal human tissues for AP4B1 Gene

Protein differential expression in normal tissues from HIPED for AP4B1 Gene

This gene is overexpressed in Pancreas (36.5) and Breast (14.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for AP4B1 Gene



SOURCE GeneReport for Unigene cluster for AP4B1 Gene Hs.515048

mRNA Expression by UniProt/SwissProt for AP4B1 Gene

Q9Y6B7-AP4B1_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with AP4B1: view

Protein tissue co-expression partners for AP4B1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for AP4B1 Gene

Orthologs for AP4B1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AP4B1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia AP4B1 35
  • 91.06 (n)
  • 97.74 (a)
AP4B1 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AP4B1 35
  • 90.83 (n)
  • 94.85 (a)
AP4B1 36
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ap4b1 35
  • 87.35 (n)
  • 91.19 (a)
Ap4b1 16
Ap4b1 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AP4B1 35
  • 99.73 (n)
  • 99.73 (a)
AP4B1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ap4b1 35
  • 87.69 (n)
  • 90.8 (a)
oppossum
(Monodelphis domestica)
Mammalia AP4B1 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AP4B1 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves AP4B1 35
  • 69.79 (n)
  • 74.48 (a)
AP4B1 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AP4B1 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ap4b1 35
  • 65.32 (n)
  • 68.29 (a)
zebrafish
(Danio rerio)
Actinopterygii ap4b1 35
  • 60.8 (n)
  • 59.22 (a)
zgc63878 35
ap4b1 36
  • 58 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APL2 36
  • 20 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G11490 35
  • 48.1 (n)
  • 38.05 (a)
Species with no ortholog for AP4B1:
  • 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AP4B1 Gene

ENSEMBL:
Gene Tree for AP4B1 (if available)
TreeFam:
Gene Tree for AP4B1 (if available)

Paralogs for AP4B1 Gene

Paralogs for AP4B1 Gene

(3) SIMAP similar genes for AP4B1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with AP4B1: view

Variants for AP4B1 Gene

Sequence variations from dbSNP and Humsavar for AP4B1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_030804 -
rs7513707 -- 113,903,258(+) ACGGG(A/G)TTTCT intron-variant
rs7536876 -- 113,903,153(+) ctccg(C/T)ttccc intron-variant
rs12079716 -- 113,901,972(+) TTTAG(G/T)AGATG intron-variant, upstream-variant-2KB
rs34751342 -- 113,901,822(+) ACATA(G/T)GAAGC intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, synonymous-codon, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for AP4B1 Gene

Variant ID Type Subtype PubMed ID
esv23869 CNV Loss 19812545
nsv819786 CNV Loss 19587683

Variation tolerance for AP4B1 Gene

Residual Variation Intolerance Score: 29% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.50; 95.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AP4B1 Gene

HapMap Linkage Disequilibrium report
AP4B1
Human Gene Mutation Database (HGMD)
AP4B1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AP4B1 Gene

Disorders for AP4B1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for AP4B1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 47, autosomal recessive
  • cerebral palsy, spastic quadriplegic 5
severe intellectual disability and progressive spastic paraplegia
  • ap4 deficiency syndrome
spastic paraplegia 47
  • spastic paraplegia 47, autosomal recessive
cerebral palsy
  • mixed cerebral palsy
hypertonia
- elite association - COSMIC cancer census association via MalaCards
Search AP4B1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AP4B1_HUMAN
  • Cerebral palsy, spastic quadriplegic 5 (CPSQ5) [MIM:614066]: A neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe mental retardation with poor or absent speech development. {ECO:0000269 PubMed:21620353}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for AP4B1

Genetic Association Database (GAD)
AP4B1
Human Genome Epidemiology (HuGE) Navigator
AP4B1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AP4B1
genes like me logo Genes that share disorders with AP4B1: view

No data available for Genatlas for AP4B1 Gene

Publications for AP4B1 Gene

  1. AP-4, a novel protein complex related to clathrin adaptors. (PMID: 10066790) Dell'Angelica E.C. … Bonifacino J.S. (J. Biol. Chem. 1999) 2 3 4 67
  2. An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome. (PMID: 24781758) Abdollahpour H. … Kutsche K. (Eur. J. Hum. Genet. 2015) 3
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  4. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. (PMID: 23535729) Michailidou K. … Easton D.F. (Nat. Genet. 2013) 3
  5. Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) . (PMID: 22290197) Bauer P. … SchAPls L. (Neurogenetics 2012) 3

Products for AP4B1 Gene

Sources for AP4B1 Gene

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