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Ap2a1 Gene Detail
Summary
  • Symbol
    Ap2a1
  • Name
    adaptor-related protein complex 2, alpha 1 subunit
  • Synonyms
    Adtaa
  • Feature Type
    protein coding gene
  • IDs
    MGI:101921
    NCBI Gene: 11771
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:44900373-44929490 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 29.01 cM, cytoband B2
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    217 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_101921
 protein coding gene Chr7:44900373-44929496 (-)
129S1/SvImJ MGP_129S1SvImJ_G0032186
 protein coding gene Chr7:45109632-45144602 (-)
A/J MGP_AJ_G0032165
 protein coding gene Chr7:44264672-44294329 (-)
AKR/J MGP_AKRJ_G0032101
 protein coding gene Chr7:45482839-45512666 (-)
BALB/cJ MGP_BALBcJ_G0032177
 protein coding gene Chr7:44263964-44294013 (-)
C3H/HeJ MGP_C3HHeJ_G0031893
 protein coding gene Chr7:45983750-46019055 (-)
C57BL/6NJ MGP_C57BL6NJ_G0032669
 protein coding gene Chr7:47373882-47406785 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0029683
 protein coding gene Chr7:46834445-46864533 (-)
CAST/EiJ MGP_CASTEiJ_G0031221
 protein coding gene Chr7:37358193-37387419 (-)
CBA/J MGP_CBAJ_G0031857
 protein coding gene Chr7:48929174-48961440 (-)
DBA/2J MGP_DBA2J_G0032015
 protein coding gene Chr7:43934709-43963783 (-)
FVB/NJ MGP_FVBNJ_G0031966
 protein coding gene Chr7:43712618-43743518 (-)
LP/J MGP_LPJ_G0032093
 protein coding gene Chr7:45793475-45823471 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0032003
 protein coding gene Chr7:47663032-47693023 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0032685
 protein coding gene Chr7:44706983-44735934 (-)
PWK/PhJ MGP_PWKPhJ_G0030944
 protein coding gene Chr7:37300532-37329963 (-)
SPRET/EiJ MGP_SPRETEiJ_G0030780
 protein coding gene Chr7:32700289-32739767 (-)
WSB/EiJ MGP_WSBEiJ_G0031338
 protein coding gene Chr7:45179170-45210753 (-)



Homology
more
  • Human Ortholog
    AP2A1, adaptor related protein complex 2 subunit alpha 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    AP2A1, adaptor related protein complex 2 subunit alpha 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ADTAA, AP2-ALPHA, CLAPA1
  • Links
    NCBI Gene ID: 160
    neXtProt AC: NX_O95782
    UniProt: O95782

  • Chr Location
    19q13.33; chr19:49766923-49807114 (+)  GRCh38.p7
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    5 phenotypes from 1 allele in 1 genetic background
    8 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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    37
  • GO References
    14
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
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    687
  • Tissues
    7
  • cDNA Data
    11
  • Literature Summary
    11
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 11771 NCBI Gene Model | MGI Sequence Detail 29118 C57BL/6J ±  kb
    transcript NM_007458 RefSeq | MGI Sequence Detail 3457 C57BL/6  
    polypeptide P17426 UniProt | EBI | MGI Sequence Detail 977 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000004099 AP-2 complex subunit alpha-1
      (term hierarchy)
    • InterPro Domains
      IPR017104 Adaptor protein complex AP-2, alpha subunit
      IPR011989 Armadillo-like helical
      IPR016024 Armadillo-type fold
      IPR003164 Clathrin adaptor, alpha-adaptin, appendage, C-terminal subdomain
      IPR008152 Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain
      IPR013041 Clathrin adaptor, appendage, Ig-like subdomain superfamily
      IPR002553 Clathrin/coatomer adaptor, adaptin-like, N-terminal
      IPR009028 Coatomer/calthrin adaptor appendage, C-terminal subdomain
      IPR012295 TBP domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 13
      cDNA 12
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-18750
    References
    more
    • Summaries
      All 54
      Developmental Gene Expression 11
      Gene Ontology 14
      Phenotypes 8
    • Earliest
      J:21441 Robinson MS, Cloning of cDNAs encoding two related 100-kD coated vesicle proteins (alpha-adaptins). J Cell Biol. 1989 Mar;108(3):833-42
    • Latest
      J:279421 Carbonell AU, et al., Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome. Nat Commun. 2019 Aug 6;10(1):3529
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    02/16/2021
    MGI 6.16     		The Jackson Laboratory