Version 5.4
Homo sapiens Gene: ANK1
Summary
InnateDB Gene IDBG-19055.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ANK1
Gene Name ankyrin 1, erythrocytic
Synonyms ANK; SPH1; SPH2
Species Homo sapiens
Ensembl Gene ENSG00000029534
Encoded Proteins
IDBP-19057
ankyrin 1, erythrocytic
IDBP-19059
ankyrin 1, erythrocytic
IDBP-19061
ankyrin 1, erythrocytic
IDBP-19063
ankyrin 1, erythrocytic
IDBP-19065
ankyrin 1, erythrocytic
IDBP-19069
ankyrin 1, erythrocytic
IDBP-475924
ankyrin 1, erythrocytic
IDBP-480410
ankyrin 1, erythrocytic
IDBP-474436
ankyrin 1, erythrocytic
IDBP-480426
ankyrin 1, erythrocytic
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 1, the prototype of this family, was first discovered in the erythrocytes, but since has also been found in brain and muscles. Mutations in erythrocytic ankyrin 1 have been associated in approximately half of all patients with hereditary spherocytosis. Complex patterns of alternative splicing in the regulatory domain, giving rise to different isoforms of ankyrin 1 have been described. Truncated muscle-specific isoforms of ankyrin 1 resulting from usage of an alternate promoter have also been identified. [provided by RefSeq, Dec 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:41653220-41896762
Strand Reverse strand
Band p11.21
Transcripts
ENST00000289734 ENSP00000289734
ENST00000347528 ENSP00000339620
ENST00000314214 ENSP00000319123
ENST00000348036 ENSP00000297744
ENST00000335651 ENSP00000335031
ENST00000265709 ENSP00000265709
ENST00000522231 ENSP00000428750
ENST00000522543 ENSP00000430368
ENST00000520299 ENSP00000430174
ENST00000524227
ENST00000518715
ENST00000518061 ENSP00000428315
ENST00000524069
ENST00000521407
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 22 experimentally validated interaction(s) in this database.
Experimentally validated
Total 22 [view]
Protein-Protein 22 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005198 structural molecule activity
GO:0005200 structural constituent of cytoskeleton
GO:0005515 protein binding
GO:0008093 cytoskeletal adaptor activity
GO:0019899 enzyme binding
GO:0030507 spectrin binding
GO:0051117 ATPase binding
Biological Process
GO:0006779 porphyrin-containing compound biosynthetic process
GO:0006887 exocytosis
GO:0006888 ER to Golgi vesicle-mediated transport
GO:0007010 cytoskeleton organization
GO:0007165 signal transduction
GO:0007411 axon guidance
GO:0010638 positive regulation of organelle organization
GO:0015672 monovalent inorganic cation transport
GO:0045199 maintenance of epithelial cell apical/basal polarity
GO:0048821 erythrocyte development
GO:0072661 protein targeting to plasma membrane
Cellular Component
GO:0005634 nucleus
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0014731 spectrin-associated cytoskeleton
GO:0016020 membrane
GO:0016323 basolateral plasma membrane
GO:0016529 sarcoplasmic reticulum
GO:0030018 Z disc
GO:0030673 axolemma
GO:0030863 cortical cytoskeleton
GO:0031430 M band
GO:0031672 A band
GO:0042383 sarcolemma
GO:0043005 neuron projection
GO:0045211 postsynaptic membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000031543
View Gene Order
ENSBTAG00000003275
Not yet available
Pathways
NETPATH
REACTOME
REACT_22312
Neurofascin interactions pathway
REACT_22329
NrCAM interactions pathway
REACT_22292
CHL1 interactions pathway
REACT_22266
Interaction between L1 and Ankyrins pathway
REACT_22205
L1CAM interactions pathway
REACT_111045
Developmental Biology pathway
REACT_18266
Axon guidance pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL B3KX39
UniProt Splice Variant
Entrez Gene 286
UniGene Hs.654438 Hs.708861
RefSeq NM_000037 NM_001142445 NM_001142446 NM_020475 NM_020476 NM_020477 NM_020478 NM_020480 XM_005273476
HUGO HGNC:492
OMIM 612641
CCDS CCDS47849 CCDS55227 CCDS6119 CCDS6121 CCDS6122
HPRD 01693
IMGT
EMBL AK126647
GenPept BAG54351
RNA Seq Atlas 286

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca