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Ank1
Gene Detail
Symbol

Name
ID
Ank1
ankyrin 1, erythroid
MGI:88024
Synonyms
Ank-1, pale
Feature Type
protein coding gene
Genetic Map
Chromosome 8
11.42 cM
Detailed Genetic Map ± 1 cM


Mapping data(10)
Sequence Map
Chr8:22974844-23150497 bp, + strand
From VEGA annotation of GRCm38

  175654 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:55427  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

HCOP human homology predictions: ANK1
Gene Tree: Ank1

Human
homologs
ANK1, ankyrin 1, erythrocytic
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 286
neXtProt AC: NX_P16157

Human Synonyms: ANK, SPH1, SPH2

Human Chr (Location): 8p11.1; chr8:41653225-41896762 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human ANK1

Mutations,
alleles, and
phenotypes
All mutations/alleles(9) : Chemically induced (ENU)(5) Spontaneous(2) Targeted(2)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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.
 
Human Diseases Modeled in Mice Using Ank1 (2)    Mutations Annotated to Human Diseases (5)    Phenotype Images(8)
Interactions
Ank1 interacts with 486 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (30 annotations)
Process ER to Golgi vesicle-mediated transport, erythrocyte development, ...
Component A band, axolemma, ...
Function ATPase binding, cytoskeletal adaptor activity, ...
External Resources: FuncBase
Expression
Literature Summary: (8 records)
Data Summary: Results (62)    Tissues (57)    Images (15)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 48
RT-PCR 12
RNase protection 2
cDNA source data(20)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase ank1    NEW 
Molecular
reagents
All nucleic(27) Genomic(2) cDNA(21) Primer pair(3) Other(1)
Microarray probesets(9)
Other database
links
Sequences
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 sequences
All sequences(177) RefSeq(55) UniProt(13)
Polymorphisms
RFLP(3) : SNPs within 2kb(1107 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002110 Ankyrin repeat
InterPro IPR020683 Ankyrin repeat-containing domain
InterPro IPR000488 Death domain
InterPro IPR011029 Death-like domain
InterPro IPR000906 ZU5
Protein Ontology PR:000004033 ankyrin-1
References
(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:222308 Fairfield H, et al., Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. Genome Res. 2015 Jul;25(7):948-57
All references(84)
Disease annotation references (6)
Other
accession IDs
MGD-MRK-12782, MGD-MRK-1324, MGD-MRK-1327, MGI:3832665

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
07/21/2015
MGI 5.22
The Jackson Laboratory