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Abca5 Gene Detail
Summary
  • Symbol
    Abca5
  • Name
    ATP-binding cassette, sub-family A (ABC1), member 5
  • Synonyms
    ABC13, B930033A02Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2386607
    NCBI Gene: 217265
  • Gene Overview
    MyGene.info: ABCA5
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:110269369-110337716 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 73.53 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    387 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2386607
protein coding gene Chr11:110269369-110337723 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019344
protein coding gene Chr11:113881183-113962064 (-)
A/J MGP_AJ_G0019312
protein coding gene Chr11:108960408-109029078 (-)
AKR/J MGP_AKRJ_G0019281
protein coding gene Chr11:112215445-112287566 (-)
BALB/cJ MGP_BALBcJ_G0019286
protein coding gene Chr11:109387359-109456980 (-)
C3H/HeJ MGP_C3HHeJ_G0019095
protein coding gene Chr11:112515850-112592533 (-)
C57BL/6NJ MGP_C57BL6NJ_G0019736
protein coding gene Chr11:117307489-117394266 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017359
protein coding gene Chr11:106139465-106212879 (-)
CAST/EiJ MGP_CASTEiJ_G0018648
protein coding gene Chr11:113673379-113753414 (-)
CBA/J MGP_CBAJ_G0019064
protein coding gene Chr11:122157508-122234839 (-)
DBA/2J MGP_DBA2J_G0019176
protein coding gene Chr11:108439796-108509463 (-)
FVB/NJ MGP_FVBNJ_G0019167
protein coding gene Chr11:107890663-107961517 (-)
LP/J MGP_LPJ_G0019246
protein coding gene Chr11:114287846-114363074 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019198
protein coding gene Chr11:121297171-121376189 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0019773
protein coding gene Chr11:112799012-112870670 (-)
PWK/PhJ MGP_PWKPhJ_G0018413
protein coding gene Chr11:109596549-109665125 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018205
protein coding gene Chr11:112595252-112673704 (-)
WSB/EiJ MGP_WSBEiJ_G0018700
protein coding gene Chr11:112724166-112796823 (-)



Homology
more
  • Human Ortholog
    ABCA5, ATP binding cassette subfamily A member 5
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ABCA5, ATP binding cassette subfamily A member 5
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ABC13, EST90625, HTC3
  • Links
    NCBI Gene ID: 23461
    neXtProt AC: NX_Q8WWZ7
    UniProt: Q8WWZ7

  • Chr Location
    17q24.3; chr17:69244435-69327182 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 10263
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: ABCA5
  • Gene Tree
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    13 phenotypes from 1 allele in 2 genetic backgrounds
    4 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 knock-out allele exhibit exophthalmos, tremors and collapse of the thyroid gland, and develop a dilated cardiomyopathy with large thrombi due to depression of the cardiac function. Severe edema, liver injury and premature death appear to be sensitive to genetic background.
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000018800 Ensembl Gene Model | MGI Sequence Detail 68348 C57BL/6J ±  kb
    transcript ENSMUST00000043961 Ensembl | MGI Sequence Detail 8231 Not Applicable  
    polypeptide ENSMUSP00000047927 Ensembl | MGI Sequence Detail 1642 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 48
      cDNA 48

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:2443908
    References
    more
    • Summaries
      All 29
      Developmental Gene Expression 1
      Gene Ontology 7
      Phenotypes 4
    • Earliest
      J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
    • Latest
      J:265628 Gaudet P, et al., Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief Bioinform. 2011 Sep;12(5):449-62

    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
    12/04/2018
    MGI 6.13
    The Jackson Laboratory