ANK1

GENERAL INFORMATION

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Gene name

ANK1

Gene description

Ankyrin 1, erythrocytic

Protein class

Cytoskeleton related proteins
Disease related genes
Plasma proteins
Predicted intracellular proteins
Predicted secreted proteins

Predicted localization

Intracellular,Secreted

Number of transcripts

9
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (skeletal muscle)
GTEx:Tissue enhanced (cerebellum, skeletal muscle)

Protein evidence

Evidence at protein level

Protein localization

Selective membranous expression in erythrocytes, cells in bone marrow and Purkinje cells.

ANTIBODY RELIABILITY

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Data reliability
description

External characterization data supports antibody staining.

Data reliability

Supportive based on 3 antibodies.
HPA004842 , HPA056953 , CAB016057
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Cerebellum

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (skeletal muscle)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (cerebellum, skeletal muscle)

Organ

Expression



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

Cytoband

p11.21

Chromosome location (bp)

41653220 - 41896762

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000029534 (version 78.38)

Entrez gene

286

UniProt

P16157 (UniProt - Evidence at protein level)

neXtProt

NX_P16157

Antibodypedia

ANK1 antibodies


PROTEIN BROWSER

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ENST00000265709
 
ENST00000289734
 
ENST00000314214
 
ENST00000335651
 
ENST00000347528
 
ENST00000348036
 
ENST00000520299
 
ENST00000522231
 
ENST00000522543
 
 
 
 


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 » Show » 1881 206.3 No 0
ANK1-002 ENSP00000289734
ENST00000289734
P16157
Show all »
Show » 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 » Show » 1897 208.2 No 0
ANK1-007 ENSP00000430174
ENST00000520299
B3KX39
Show all »
Show » 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