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Ap4b1 Gene Detail
Summary
  • Symbol
    Ap4b1
  • Name
    adaptor-related protein complex AP-4, beta 1
  • Synonyms
    1810038H16Rik, AP-4 beta-4
  • Feature Type
    protein coding gene
  • IDs
    MGI:1337130
    NCBI Gene: 67489
  • Gene Overview
    MyGene.info: AP4B1
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:103809520-103822025 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 45.52 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    165 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1337130
protein coding gene Chr3:103809517-103822025 (.)
129S1/SvImJ MGP_129S1SvImJ_G0027699
protein coding gene Chr3:105098173-105112264 (+)
A/J MGP_AJ_G0027659
protein coding gene Chr3:101752899-101765994 (+)
AKR/J MGP_AKRJ_G0027624
protein coding gene Chr3:104236623-104249161 (+)
BALB/cJ MGP_BALBcJ_G0027671
protein coding gene Chr3:101523108-101535590 (+)
C3H/HeJ MGP_C3HHeJ_G0027401
protein coding gene Chr3:104605354-104618607 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028115
protein coding gene Chr3:108992799-109005298 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025455
protein coding gene Chr3:97880741-97893028 (+)
CAST/EiJ MGP_CASTEiJ_G0026857
protein coding gene Chr3:103720208-103734434 (+)
CBA/J MGP_CBAJ_G0027376
protein coding gene Chr3:112738938-112751473 (+)
DBA/2J MGP_DBA2J_G0027518
protein coding gene Chr3:100998016-101011772 (+)
FVB/NJ MGP_FVBNJ_G0027486
protein coding gene Chr3:98926065-98938675 (+)
LP/J MGP_LPJ_G0027625
protein coding gene Chr3:106440916-106456733 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0027516
protein coding gene Chr3:118845752-118859067 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028170
protein coding gene Chr3:103792608-103805103 (+)
PWK/PhJ MGP_PWKPhJ_G0026583
protein coding gene Chr3:100770314-100783232 (+)
SPRET/EiJ MGP_SPRETEiJ_G0026404
protein coding gene Chr3:101856045-101868518 (+)
WSB/EiJ MGP_WSBEiJ_G0026937
protein coding gene Chr3:104341110-104354567 (+)



Homology
more
  • Human Ortholog
    AP4B1, adaptor related protein complex 4 subunit beta 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    AP4B1, adaptor related protein complex 4 subunit beta 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BETA-4, CPSQ5, SPG47
  • Links
    NCBI Gene ID: 10717
    neXtProt AC: NX_Q9Y6B7
    UniProt: Q9Y6B7

  • Chr Location
    1p13.2; chr1:113894194-113905202 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human AP4B1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    3 phenotypes from 1 allele in 1 genetic background
    7 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a null allele exhibit poor rotarod performance.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000032952 Ensembl Gene Model | MGI Sequence Detail 12506 C57BL/6J ±  kb
transcript ENSMUST00000047285 Ensembl | MGI Sequence Detail 2799 Not Applicable  
polypeptide ENSMUSP00000044262 Ensembl | MGI Sequence Detail 738 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 41
    cDNA 41

    Microarray probesets 4
Other
Accession IDs
less
MGI:1914739, MGI:2139923
References
more
  • Summaries
    All 30
    Diseases 1
    Gene Ontology 3
    Phenotypes 7
  • Earliest
    J:48443 Odorizzi G, et al., The AP-3 complex: a coat of many colours. Trends Cell Biol. 1998 Jul;8(7):282-8
  • Latest
    J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
12/11/2018
MGI 6.13
The Jackson Laboratory