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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
  • Alliance
    gene page
  • Transcription Start Sites
    30 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:23464860-23640513 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 11.42 cM
  • Mapping Data
    10 experiments
Strain
Comparison
more
  • SNPs within 2kb
    5409 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88024
 protein coding gene Chr8:23464852-23640517 (+)
129S1/SvImJ MGP_129S1SvImJ_G0033461
 protein coding gene Chr8:20860751-21048229 (+)
A/J MGP_AJ_G0033441
 protein coding gene Chr8:20172829-20349668 (+)
AKR/J MGP_AKRJ_G0033366
 protein coding gene Chr8:20837544-21018003 (+)
BALB/cJ MGP_BALBcJ_G0033437
 protein coding gene Chr8:20292874-20472447 (+)
C3H/HeJ MGP_C3HHeJ_G0033151
 protein coding gene Chr8:21035853-21218287 (+)
C57BL/6NJ MGP_C57BL6NJ_G0033953
 protein coding gene Chr8:21728652-21911286 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0030905
 protein coding gene Chr8:17505823-17687484 (+)
CAST/EiJ MGP_CASTEiJ_G0032477
 protein coding gene Chr8:20454311-20651455 (+)
CBA/J MGP_CBAJ_G0033126
 protein coding gene Chr8:22603399-22794361 (+)
DBA/2J MGP_DBA2J_G0033281
 protein coding gene Chr8:20140593-20317956 (+)
FVB/NJ MGP_FVBNJ_G0033225
 protein coding gene Chr8:19936319-20117450 (+)
LP/J MGP_LPJ_G0033370
 protein coding gene Chr8:20848974-21041288 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033268
 protein coding gene Chr8:22172549-22356750 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0033972
 protein coding gene Chr8:20740413-20924460 (+)
PWK/PhJ MGP_PWKPhJ_G0032189
 protein coding gene Chr8:19729376-19912072 (+)
SPRET/EiJ MGP_SPRETEiJ_G0032022
 protein coding gene Chr8:20101165-20293396 (+)
WSB/EiJ MGP_WSBEiJ_G0032593
 protein coding gene Chr8:20943759-21131476 (+)



Homology
more
  • Human Ortholog
    ANK1, ankyrin 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ANK1, ankyrin 1
  • Synonyms
    ANK, ankyrin-1, SPH1, SPH2
  • Links
    NCBI Gene ID: 286
    neXtProt AC: NX_P16157
    UniProt: P16157

  • Chr Location
    8p11.21; chr8:41653220-41896741 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Ank1 mouse models; 3 with human ANK1 associations

Human Disease Mouse Models
      
IDs
 View 4 models
      
IDs
 View 2 models
      
IDs
IDs
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
less
  • Phenotype Summary
    109 phenotypes from 8 alleles in 12 genetic backgrounds
    8 images
    42 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
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
less
  • All GO Annotations
    37
  • GO References
    13
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    772
  • Tissues
    60
  • cDNA Data
    21
  • Literature Summary
    12
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000031543 Ensembl Gene Model | MGI Sequence Detail 175654 C57BL/6J ±  kb
    transcript ENSMUST00000121802 Ensembl | MGI Sequence Detail 8218 Not Applicable  
    polypeptide ENSMUSP00000113571 Ensembl | MGI Sequence Detail 1907 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 31
      Genomic 2
      cDNA 22
      Primer pair 5
      Other 2

      Microarray probesets 9
    Other
    Accession IDs
    less
    MGD-MRK-12782, MGD-MRK-1324, MGD-MRK-1327, MGI:3832665
    References
    more
    • Summaries
      All 95
      Developmental Gene Expression 12
      Diseases 6
      Gene Ontology 13
      Phenotypes 42
    • 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:351959 Stevens SR, et al., Ankyrin-R Links Kv3.3 to the Spectrin Cytoskeleton and Is Required for Purkinje Neuron Survival. J Neurosci. 2022 Jan 5;42(1):2-15
    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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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory