ANK1

GENE INFORMATION

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Gene name

ANK1 (HGNC Symbol)

Synonyms

ANK, SPH1

Description

ankyrin 1, erythrocytic (HGNC Symbol)

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]

Chromosome

8 (Chromosome progress)

Cytoband

p11.21

Chromosome location (bp)

41510739 - 41754280

Ensembl

ENSG00000029534 (version 73.37)

Entrez gene

286

UniProt

P16157 (UniProt - Evidence at protein level)

neXtProt

NX_P16157

Antibodypedia

ANK1 antibodies
 

PROTEIN VIEW

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 « 
 
ANK1-001
 
ANK1-002
 
ANK1-003
 
ANK1-004
 
ANK1-005
 
ANK1-006
 
ANK1-007
 
ANK1-009
 
ANK1-010
 
ANK1-013
 
ANK1-201
 
ANK1-202
 
ANK1-203
 
ANK1-204
 
ANK1-205
 
 » 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ANK1-001 ENSP00000339620
ENST00000347528
P16157
Show all »
Show » 1881 206.3 No 0
ANK1-002 ENSP00000289734
ENST00000289734
P16157
Show all »
Show » 1880 206 No 0
ANK1-003 ENSP00000319123
ENST00000314214
P16157
Show all »
Show » Show » 155 17.6 Yes 0
ANK1-004 ENSP00000297744
ENST00000348036
P16157
Show all »
Show » Show » 109 12.5 Yes 0
ANK1-005 ENSP00000335031
ENST00000335651
C9JN86
Show all »
Show » 113 12.9 Yes 0
ANK1-006 ENSP00000265709
ENST00000265709
P16157
Show all »
Show » 1897 208.2 No 0
ANK1-007 ENSP00000430174
ENST00000520299
B3KX39
Show all »
Show » 1040 115.8 No 0
ANK1-009 ENSP00000430368
ENST00000522543
P16157
Show all »
Show » Show » 156 17.9 Yes 0
ANK1-010 ENSP00000428750
ENST00000522231
Q6PK32
Show all »
Show » 131 15 Yes 0
ANK1-013 ENSP00000428315
ENST00000518061
Show » 177 19.8 No 0
ANK1-201 ENSP00000309131
ENST00000352337
P16157
Show all »
Show » 1858 203.5 No 0
ANK1-202 ENSP00000369082
ENST00000379758
P16157
Show all »
Show » 1834 200.9 No 0
ANK1-203 ENSP00000380147
ENST00000396942
P16157
Show all »
Show » 1905 208.9 No 0
ANK1-204 ENSP00000380149
ENST00000396945
P16157
Show all »
Show » 1806 197.8 No 0
ANK1-205 ENSP00000403589
ENST00000457297
P16157
Show all »
Show » Show » 109 12.5 Yes 0