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Aliases for AP4B1 Gene

Aliases for AP4B1 Gene

  • Adaptor Related Protein Complex 4 Beta 1 Subunit 2 3 5
  • AP-4 Adaptor Complex Subunit Beta 3 4
  • AP-4 Complex Subunit Beta-1 2 3
  • Beta 4 Subunit Of AP-4 2 3
  • Spastic Paraplegia 47 2 3
  • Beta4-Adaptin 3 4
  • Adaptor-Related Protein Complex 4, Beta 1 Subunit 2
  • Adaptor-Related Protein Complex 4 Subunit Beta-1 4
  • 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 Clathrin derived vesicle budding and Vesicle-mediated transport. GO annotations related to this gene include binding and protein transporter activity. An important paralog of this gene is AP2B1.

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

Additional gene information for AP4B1 Gene

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

Genomics for AP4B1 Gene

Regulatory Elements for AP4B1 Gene

Enhancers for AP4B1 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
GH01H113869 1.2 Ensembl ENCODE 23.9 +32.0 32028 7 HDGF PKNOX1 ATF1 YBX1 ZNF766 GATA2 ZNF143 ZNF207 ATF7 RUNX3 AP4B1 PHTF1 RSBN1 DCLRE1B ENSG00000231128 HIPK1-AS1 HIPK1 PTPN22 OLFML3 AP4B1-AS1
GH01H113878 1 Ensembl ENCODE 26 +24.8 24771 3 HDGF PAX8 NFXL1 ZBTB40 ZNF664 ATF7 RUNX3 IKZF2 ZNF687 HLF AP4B1 PHTF1 DCLRE1B HIPK1-AS1 HIPK1 OLFML3 MAGI3 PTPN22 BCL2L15
GH01H113927 1.7 FANTOM5 ENCODE dbSUPER 11.8 -26.7 -26703 8 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC ZC3H11A SSRP1 TRIM33 LOC100421402 LRIG2 RSBN1 DCLRE1B OLFML3 AP4B1 SIKE1 AP4B1-AS1 HIPK1
GH01H113779 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11 +122.0 122019 6 HDGF PKNOX1 ATF1 FEZF1 TCF12 ELK1 ATF7 RUNX3 JUNB SMARCA4 RSBN1 PHTF1 ENSG00000231128 AP4B1 MAGI3 PTPN22 HIPK1 PIR59903
GH01H113944 1.5 Ensembl ENCODE dbSUPER 12.4 -42.0 -41987 4 HDGF FOXA2 ARID4B REST ZNF592 KAT8 MEF2D NFIL3 MIER3 SMARCA4 OLFML3 AP4B1 DCLRE1B PHTF1 HIPK1-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AP4B1 on UCSC Golden Path with GeneCards custom track

Promoters for AP4B1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000011633 6 2401 HDGF FOXA2 PKNOX1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2

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 TEPSIN; 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

Post-translational modifications for AP4B1 Gene

  • Ubiquitination at posLast=577577
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AP4B1 Gene

Domains & Families for AP4B1 Gene

Gene Families for AP4B1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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

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.

Phenotypes From GWAS Catalog for AP4B1 Gene

Gene Ontology (GO) - Molecular Function for AP4B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity TAS 10066790
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

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

Clone Products

  • Applied Biological Materials Clones for AP4B1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
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
golgi apparatus 4
endosome 4
nucleus 2
cytosol 2
plasma membrane 1
mitochondrion 1
peroxisome 1

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 TAS 10066790
GO:0005905 clathrin-coated pit IEA --
GO:0016020 membrane IEA --
GO:0030117 membrane coat IEA --
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:0006810 transport IEA --
GO:0006886 intracellular protein transport IEA --
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA --
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for AP4B1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for AP4B1 Gene



Protein tissue co-expression partners for AP4B1 Gene

NURSA nuclear receptor signaling pathways regulating expression of AP4B1 Gene:

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)
  • Lung(4.2)
  • Muscle(4.2)
  • Skin(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
Organs:
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

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia AP4B1 33 34
  • 99.73 (n)
cow
(Bos Taurus)
Mammalia AP4B1 33 34
  • 91.06 (n)
dog
(Canis familiaris)
Mammalia AP4B1 33 34
  • 90.83 (n)
rat
(Rattus norvegicus)
Mammalia Ap4b1 33
  • 87.69 (n)
mouse
(Mus musculus)
Mammalia Ap4b1 33 16 34
  • 87.35 (n)
oppossum
(Monodelphis domestica)
Mammalia AP4B1 34
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AP4B1 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves AP4B1 34 33
  • 69.79 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AP4B1 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ap4b1 33
  • 65.32 (n)
zebrafish
(Danio rerio)
Actinopterygii ap4b1 33 34
  • 60.8 (n)
zgc63878 33
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APL2 34
  • 20 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G11490 33
  • 48.1 (n)
Species where no ortholog for AP4B1 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)
  • 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
rs587779388 Pathogenic 113,898,755(-) TTTAA(-/CA)GAGTT intron-variant, nc-transcript-variant, reference, frameshift-variant
rs587783179 Pathogenic 113,902,663(-) GGCTG(-/G)CGTTA intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, frameshift-variant, utr-variant-5-prime
rs797045244 Pathogenic 113,902,664(-) AGGGC(C/TG)GCGTT intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, frameshift-variant, utr-variant-5-prime
rs879255396 Pathogenic 113,902,864(-) TGTTC(A/C/G)GGTAC intron-variant, upstream-variant-2KB, splice-acceptor-variant, utr-variant-5-prime
rs879255397 Pathogenic 113,901,322(-) GTTGT(-/A)GAACT intron-variant, nc-transcript-variant, downstream-variant-500B, reference, frameshift-variant, 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
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)

Relevant External Links for AP4B1 Gene

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

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

Disorders for AP4B1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
spastic paraplegia 47, autosomal recessive
  • hereditary spastic paraplegia 47
severe intellectual disability and progressive spastic paraplegia
  • ap4 deficiency syndrome
spastic paraplegia 47
  • spastic paraplegia 47, autosomal recessive
hypertonia
hereditary spastic paraplegia 51
  • autosomal dominant spastic paraplegia 51
- 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.

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 EC … Bonifacino JS (The Journal of biological chemistry 1999) 2 3 4 60
  2. Multivariate proteomic profiling identifies novel accessory proteins of coated vesicles. (PMID: 22472443) Borner GH … Robinson MS (The Journal of cell biology 2012) 3 4 60
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for AP4B1 Gene

Sources for AP4B1 Gene

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