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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 Subunit Beta-1 3 4
  • 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
  • CPSQ5 3 6
  • SPG47 3 6
  • AP-4 Complex Subunit Beta-1 3
  • Beta Subunit Of AP-4 4
  • BETA-4 3

External Ids for AP4B1 Gene

Previous Symbols for AP4B1 Gene

  • SPG47

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 hypertonia and spastic paraplegia 47, autosomal recessive. Among its related pathways are Lysosome and Clathrin derived vesicle budding. GO annotations related to this gene include transporter activity 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

Genomic Location for AP4B1 Gene

Start:
113,894,748 bp from pter
End:
113,905,201 bp from pter
Size:
10,454 bases
Orientation:
Minus strand

Genomic View for AP4B1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AP4B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AP4B1 Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys577

Other Protein References for AP4B1 Gene

No data available for DME Specific Peptides for AP4B1 Gene

Domains for AP4B1 Gene

UniProtKB/Swiss-Prot:

AP4B1_HUMAN
Family:
  • Belongs to the adaptor complexes large subunit family.:
    • Q9Y6B7
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:0005215 transporter activity TAS 10066790
GO:0005488 binding --
GO:0005515 protein binding IPI 25416956
GO:0008565 protein transporter activity IEA --
genes like me logo Genes that share ontologies with AP4B1: view
genes like me logo Genes that share phenotypes with AP4B1: view

miRNA for AP4B1 Gene

miRTarBase miRNAs that target AP4B1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
golgi apparatus 3
cytosol 2
nucleus 2
plasma membrane 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for AP4B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005802 trans-Golgi network TAS 10066790
GO:0005905 coated pit IEA --
GO:0030117 membrane coat --
GO:0030131 clathrin adaptor complex IEA --
GO:0031904 endosome lumen TAS --
genes like me logo Genes that share ontologies with AP4B1: view

Pathways 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:0006886 intracellular protein transport IEA --
GO:0006892 post-Golgi vesicle-mediated transport TAS --
GO:0015031 protein transport --
GO:0016192 vesicle-mediated transport --
GO:0061024 membrane organization TAS --
genes like me logo Genes that share ontologies with AP4B1: view

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

Integrated Proteomics: protein expression 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 expressions with AP4B1: view

Orthologs for AP4B1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AP4B1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AP4B1 36
  • 99.73 (n)
  • 99.73 (a)
AP4B1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AP4B1 36
  • 91.06 (n)
  • 97.74 (a)
AP4B1 37
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AP4B1 36
  • 90.83 (n)
  • 94.85 (a)
AP4B1 37
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ap4b1 36
  • 87.35 (n)
  • 91.19 (a)
Ap4b1 16
Ap4b1 37
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AP4B1 37
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AP4B1 37
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ap4b1 36
  • 87.69 (n)
  • 90.8 (a)
chicken
(Gallus gallus)
Aves AP4B1 36
  • 69.79 (n)
  • 74.48 (a)
AP4B1 37
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AP4B1 37
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ap4b1 36
  • 65.32 (n)
  • 68.29 (a)
zebrafish
(Danio rerio)
Actinopterygii ap4b1 36
  • 60.8 (n)
  • 59.22 (a)
ap4b1 37
  • 58 (a)
OneToOne
zgc63878 36
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APL2 37
  • 20 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G11490 36
  • 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

Selected 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 MAF
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
rs34249695 Likely benign 113,902,736(+) AGATC(C/T)GGTTT reference, synonymous-codon, splice-acceptor-variant, nc-transcript-variant
rs34751342 Likely benign 113,901,822(+) ACATA(G/T)GAAGC reference, synonymous-codon, nc-transcript-variant

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

Relevant External Links for AP4B1 Gene

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

Disorders for AP4B1 Gene

(1) OMIM Diseases for AP4B1 Gene (607245)

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.

(1) University of Copenhagen DISEASES for AP4B1 Gene

Relevant External Links for AP4B1

Genetic Association Database (GAD)
AP4B1
Human Genome Epidemiology (HuGE) Navigator
AP4B1
genes like me logo Genes that share disorders with AP4B1: view

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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4
  5. Large-scale mapping of human protein-protein interactions by mass spectrometry. (PMID: 17353931) Ewing R.M. … Figeys D. (Mol. Syst. Biol. 2007) 3

Products for AP4B1 Gene

Sources for AP4B1 Gene

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