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Ank1 Gene Detail
Summary
  • Symbol
    Ank1
  • Name
    ankyrin 1, erythroid
  • Synonyms
    Ank-1, pale
  • Feature Type
    protein coding gene
  • IDs
    MGI:88024
    NCBI Gene: 11733
  • Gene Overview
    MyGene.info: ANK1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr8:22974844-23150497 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      175654 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 11.42 cM
  • Mapping Data
    10 experiments
Homology
more
  • Human Ortholog
    ANK1, ankyrin 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    ANK1, ankyrin 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ANK, SPH1, SPH2
  • Links
    NCBI Gene ID: 286
    neXtProt AC: NX_P16157
    UniProt: P16157

  • Chr Location
    8p11.21; chr8:41653225-41896762 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Ank1 mouse models; 1 with human ANK1 associations

Human Disease Mouse Models
      
IDs
View 4 models
      
IDs
View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    109 phenotypes from 8 alleles in 12 genetic backgrounds
    8 images
    38 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.
Homozygous mutant animals are anemic, infertile, and have reduced body size. Mutant animals also exhibit jaundice, bone marrow hyperplasia, splenomegaly, hepatomegaly, enlarged lymph nodes, increased white blood cell count, and cardiac hypertrophy.
Gene Ontology
(GO)
Classifications
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  • 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 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
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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
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000026381 VEGA Gene Model | MGI Sequence Detail 175654 C57BL/6J ±  kb
    transcript OTTMUST00000065236 VEGA | MGI Sequence Detail 8218 Not Applicable  
    polypeptide OTTMUSP00000032484 VEGA | MGI Sequence Detail 1907 Not Applicable  
    For the selected sequence
    Polymorphisms
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    • SNPs within 2kb
      1089 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 28
      Genomic 2
      cDNA 22
      Primer pair 3
      Other 1

      Microarray probesets 9
    Other
    Accession IDs
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    MGD-MRK-12782, MGD-MRK-1324, MGD-MRK-1327, MGI:3832665
    References
    more
    • Summaries
      All 88
      Developmental Gene Expression 11
      Diseases 6
      Gene Ontology 11
      Phenotypes 38
    • Earliest
      J:5247 Landaw SA, Kinetic aspects of endogenous carbon monoxide production in experimental animals. Ann N Y Acad Sci. 1970 Oct 5;174(1):32-48
    • Latest
      J:263025 Zoupa M, et al., Gene expression profiling in the developing secondary palate in the absence of Tbx1 function. BMC Genomics. 2018 Jun 4;19(1):429

    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
    09/11/2018
    MGI 6.12
    The Jackson Laboratory