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.... See more...

Aliases for AP4B1 Gene

Aliases for AP4B1 Gene

  • Adaptor Related Protein Complex 4 Subunit Beta 1 2 3 5
  • AP-4 Complex Subunit Beta-1 2 3 4
  • Adaptor Related Protein Complex 4 Beta 1 Subunit 2 3
  • 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
  • BETA-4 2 3
  • Adaptor-Related Protein Complex 4 Subunit Beta-1 4
  • Beta Subunit Of AP-4 4
  • CPSQ5 3
  • SPG47 3
  • AP4B1 5

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 Subunit Beta 1) is a Protein Coding gene. Diseases associated with AP4B1 include Spastic Paraplegia 47, Autosomal Recessive and Spastic Paraplegia 51, Autosomal Recessive. Among its related pathways are Lysosome and Clathrin derived vesicle budding. Gene Ontology (GO) annotations related to this gene include binding and protein transporter activity. An important paralog of this gene is AP1B1.

UniProtKB/Swiss-Prot Summary for AP4B1 Gene

  • Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways (PubMed:10066790, PubMed:10436028). AP-4 forms a non clathrin-associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asymmetric localization of somatodendritic proteins in neurons. AP-4 is involved in the recognition and binding of tyrosine-based sorting signals found in the cytoplasmic part of cargos, but may also recognize other types of sorting signal (Probable).

Gene Wiki entry for AP4B1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AP4B1 Gene

Genomics for AP4B1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AP4B1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AP4B1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AP4B1

Top Transcription factor binding sites by QIAGEN in the AP4B1 gene promoter:
  • Bach2
  • c-Myc
  • HEN1
  • HFH-1
  • Lmo2
  • Max
  • Nkx2-5
  • PPAR-gamma1
  • PPAR-gamma2
  • Zic1

Genomic Locations for AP4B1 Gene

Genomic Locations for AP4B1 Gene
chr1:113,894,194-113,905,201
(GRCh38/hg38)
Size:
11,008 bases
Orientation:
Minus strand
chr1:114,437,370-114,447,823
(GRCh37/hg19)
Size:
10,454 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) (PubMed:10066790, PubMed:10436028). Interacts with TEPSIN; this interaction requires the presence of a functional AP-4 complex (PubMed:22472443, PubMed:26542808, PubMed:26756312). Interacts with GRIA2; probably indirect it mediates the somatodendritic localization of GRIA2 in neurons (By similarity).
    SequenceCaution:
    • Sequence=BAD93054.1; Type=Erroneous initiation; Note=Extended N-terminus.; 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

Post-translational modifications for AP4B1 Gene

  • Ubiquitination at Lys577
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AP4B1 Gene

Domains & Families for AP4B1 Gene

Gene Families for AP4B1 Gene

Protein Domains for AP4B1 Gene

Suggested Antigen Peptide Sequences for AP4B1 Gene

GenScript: Design optimal peptide antigens:
  • Beta4-adaptin (AP4B1_HUMAN)
  • cDNA FLJ54036, highly similar to Adapter-relatedprotein complex 4 beta 1 subunit (B7Z4X3_HUMAN)

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

Function for AP4B1 Gene

Molecular function for AP4B1 Gene

UniProtKB/Swiss-Prot Function:
Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways (PubMed:10066790, PubMed:10436028). AP-4 forms a non clathrin-associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asymmetric localization of somatodendritic proteins in neurons. AP-4 is involved in the recognition and binding of tyrosine-based sorting signals found in the cytoplasmic part of cargos, but may also recognize other types of sorting signal (Probable).

Phenotypes From GWAS Catalog for AP4B1 Gene

Gene Ontology (GO) - Molecular Function for AP4B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22472443
GO:0030276 clathrin 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

CRISPR Products

miRNA for AP4B1 Gene

miRTarBase miRNAs that target AP4B1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AP4B1

Clone Products

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. Peripheral membrane protein.

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 AP4B1 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
endosome 4
plasma membrane 2
nucleus 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for AP4B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA --
GO:0005802 trans-Golgi network IDA 10066790
GO:0005829 cytosol IDA 10066790
GO:0016020 membrane IEA --
GO:0019898 extrinsic component of membrane IDA 10066790
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:0006605 protein targeting IC 10066790
GO:0006886 intracellular protein transport IEA --
GO:0008104 protein localization IC 10066790
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA,IBA 21873635
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

mRNA/cDNA for AP4B1 Gene

4 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AP4B1

Clone Products

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

Expression for AP4B1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for AP4B1 Gene



Protein tissue co-expression partners for AP4B1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AP4B1

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.

Evidence on tissue expression from TISSUES for AP4B1 Gene

  • Nervous system(4.8)
  • Skin(4.4)
  • Muscle(4.3)
  • Lung(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AP4B1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • salivary gland
  • skull
  • tooth
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with AP4B1: view

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
Chimpanzee
(Pan troglodytes)
Mammalia AP4B1 30 31
  • 99.73 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AP4B1 30 31
  • 91.06 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AP4B1 30 31
  • 90.83 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ap4b1 30
  • 87.69 (n)
Mouse
(Mus musculus)
Mammalia Ap4b1 30 17 31
  • 87.35 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia AP4B1 31
  • 86 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia AP4B1 31
  • 83 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AP4B1 30 31
  • 69.79 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia AP4B1 31
  • 76 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ap4b1 30
  • 65.32 (n)
Zebrafish
(Danio rerio)
Actinopterygii ap4b1 30 31
  • 60.8 (n)
OneToOne
zgc63878 30
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APL2 31
  • 20 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G11490 30
  • 48.1 (n)
Species where no ortholog for AP4B1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for AP4B1: view image

Paralogs for AP4B1 Gene

Paralogs for AP4B1 Gene

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

  • AP4B1_HUMAN
  • B1ALD0_HUMAN
  • B1ALD1_HUMAN
  • B1ALD2_HUMAN
  • B1ALD3_HUMAN
  • B7Z4X3_HUMAN
genes like me logo Genes that share paralogs with AP4B1: view

Variants for AP4B1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AP4B1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
641009 Uncertain Significance: Spastic paraplegia 47, autosomal recessive 113,900,138(-) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
641519 Uncertain Significance: Spastic paraplegia 47, autosomal recessive 113,901,835(-) C/T MISSENSE_VARIANT,INTRON_VARIANT
647839 Uncertain Significance: Spastic paraplegia 47, autosomal recessive 113,896,308(-) C/T MISSENSE_VARIANT
647873 Uncertain Significance: Spastic paraplegia 47, autosomal recessive 113,904,662(-) T/C MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
649686 Uncertain Significance: Spastic paraplegia 47, autosomal recessive 113,898,768(-) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for AP4B1 Gene

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

Variant ID Type Subtype PubMed ID
esv23869 CNV loss 19812545
esv3587240 CNV loss 21293372
esv3587251 CNV loss 21293372
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)

Additional Variant Information for AP4B1 Gene

Human Gene Mutation Database (HGMD)
AP4B1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AP4B1

SNP Genotyping and Copy Number Assay Products

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

Disorders for AP4B1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
spastic paraplegia 47, autosomal recessive
  • spg47
spastic paraplegia 51, autosomal recessive
  • spg51
spastic paraplegia 47
  • spastic paraplegia, type 47
paraplegia
  • paraplegia, lower
ap-4-associated hereditary spastic paraplegia
  • adaptor protein complex 4 deficiency
- 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
  • Spastic paraplegia 47, autosomal recessive (SPG47) [MIM:614066]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG47 is 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.

Additional Disease Information for AP4B1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 EC … Bonifacino JS (The Journal of biological chemistry 1999) 2 3 4
  2. Molecular Basis for the Interaction Between AP4 β4 and its Accessory Protein, Tepsin. (PMID: 26756312) Frazier MN … Jackson LP (Traffic (Copenhagen, Denmark) 2016) 3 4
  3. Bivalent Motif-Ear Interactions Mediate the Association of the Accessory Protein Tepsin with the AP-4 Adaptor Complex. (PMID: 26542808) Mattera R … Bonifacino JS (The Journal of biological chemistry 2015) 3 4
  4. Multivariate proteomic profiling identifies novel accessory proteins of coated vesicles. (PMID: 22472443) Borner GH … Robinson MS (The Journal of cell biology 2012) 3 4
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4

Products for AP4B1 Gene

Sources for AP4B1 Gene