Tbio ANK1 Ankyrin-1

Protein Summary

Description

Attaches integral membrane proteins to cytoskeletal elements; binds to the erythrocyte membrane protein band 4.2, to Na-K ATPase, to the lymphocyte membrane protein GP85, and to the cytoskeletal proteins fodrin, tubulin, vimentin and desmin. Erythrocyte ankyrins also link spectrin (beta chain) to the cytoplasmic domain of the erythrocytes anion exchange protein; they retain most or all of these binding functions. Isoform Mu17 together with obscurin in skeletal muscle may provide a molecular link between the sarcoplasmic reticulum and myofibrils. 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]

Uniprot Accession IDs

• P16157
• A0PJN8
• A6NJ23
• E5RFL7
• O43400
• Q13768
• Q53ER1
• Q59FP2
• Q8N604
• Q99407
• ANK-1

Gene Name

• ANK1

Ensembl ID

• ENST00000265709
• ENSP00000265709
• ENSG00000029534
• ENST00000289734
• ENSP00000289734
• ENST00000314214
• ENSP00000319123
• ENST00000347528
• ENSP00000339620
• ENST00000348036
• ENSP00000297744
• ENST00000522543
• ENSP00000430368

Symbol

• ANK
• ANK
• SPH1
• SPH2

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
cellular component	1
trait	1
disease perturbation	0.93
transcription factor perturbation	0.88
disease	0.81

Related Tools

Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 335.22   (req: < 5)

Gene RIFs: 43   (req: <= 3)

Antibodies: 363   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 335.22   (req: >= 5)

Gene RIFs: 43   (req: > 3)

Antibodies: 363   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 15

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

GWAS Traits (20)

• Explore on Target Illumination GWAS Analytics (TIGA)

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1 – 5 of 20

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
type II diabetes mellitus	EFO_0001360	5	3	1	1.1	96.3
HbA1c measurement	EFO_0004541	6	3	8		96.2
red blood cell distribution width	EFO_0005192	4	6	9		93.5
mean corpuscular hemoglobin concentration	EFO_0004528	2	4	4		92.4
birth weight	EFO_0004344	4	1	4		90

• Explore on Target Illumination GWAS Analytics (TIGA)

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GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
type II diabetes mellitus	EFO_0001360	1	1.1	96.3
HbA1c measurement	EFO_0004541	8		96.2
red blood cell distribution width	EFO_0005192	9		93.5
mean corpuscular hemoglobin concentration	EFO_0004528	4		92.4
birth weight	EFO_0004344	4		90

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Orthologs (11)

1 – 5 of 11

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	ankyrin 1	VGNC:3035	736634
Macaque	ankyrin 1		710904
Mouse	ankyrin 1, erythroid	MGI:88024	11733
Rat	ankyrin 1	RGD:1309620	306570
Dog	ankyrin 1	VGNC:37866	100686820

Species	Name	OMA	EggNOG	Inparanoid
Chimp	ankyrin 1
Macaque	ankyrin 1
Mouse	ankyrin 1, erythroid
Rat	ankyrin 1
Dog	ankyrin 1

Protein Structure (8 Structures, 1 AlphaFold Model)

Representation

  axes   backbone   ball+stick   cartoon   rocket   rope   spacefill

Color Scheme

  target   atomindex   bfactor   chainname   electrostatic   element   hydrophobicity   resname   sstruc

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-P16157-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 5 of 8

PDB Structure Id	Ligand	Method	Resolution (Å)	Residues	Fraction of Total Protein	Pub Year	Title

PDB Structure Id	Fraction of Total Protein	Resolution	Pub Year

Pathways (16)

Reactome (15)

KEGG (1)

Asparagine N-linked glycosylation (R-HSA-446203)

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Find Similar Targets

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Asparagine N-linked glycosylation	286 targets	R-HSA-446203
Reactome	Axon guidance	533 targets	R-HSA-422475
Reactome	CHL1 interactions	9 targets	R-HSA-447041
Reactome	COPI-mediated anterograde transport	83 targets	R-HSA-6807878
Reactome	Developmental Biology	1055 targets	R-HSA-1266738

Name	Explore in Pharos	Explore in Source
Asparagine N-linked glycosylation	286 targets	R-HSA-446203
Axon guidance	533 targets	R-HSA-422475
CHL1 interactions	9 targets	R-HSA-447041
COPI-mediated anterograde transport	83 targets	R-HSA-6807878
Developmental Biology	1055 targets	R-HSA-1266738

Gene Ontology Terms (30)

Functions (8)

Components (15)

Processes (7)

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Items per page:

10

1 – 8 of 8

GO Term	Evidence	Assigned by
cytoskeletal adaptor activity	Inferred from Direct Assay (IDA)	BHF-UCL
spectrin binding	Inferred from Direct Assay (IDA)	ARUK-UCL
ATPase binding	Inferred from Physical Interaction (IPI)	BHF-UCL
enzyme binding	Inferred from Physical Interaction (IPI)	UniProtKB
protein phosphatase binding	Inferred from Physical Interaction (IPI)	ARUK-UCL
ion channel binding	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
structural constituent of cytoskeleton	Traceable Author Statement (TAS)	ProtInc
structural molecule activity	Non-traceable Author Statement (NAS)	UniProtKB

Protein-Protein Interactions (167)

Explore Interacting Targets

1 – 10 of 167

• See Interactions on String-DB

RAPGEF5

Tbio

Novelty: 0.02449802

p_int: 0.999999879

p_ni: 1.03e-7

p_wrong: 1.8e-8

Score: 0.259

Data Source: BioPlex,STRINGDB

CHL1

Tbio

Novelty: 0.00055237

p_int: 0.999998813

p_ni: 0.000001187

Score: 0.942

Data Source: BioPlex,Reactome,STRINGDB

FIG4

Tbio

Family: Enzyme

Novelty: 0.00742268

p_int: 0.999959465

p_ni: 0.000040524

p_wrong: 1.1e-8

Score: 0.842

Data Source: BioPlex,STRINGDB

PIKFYVE

Tchem

Family: Kinase

Novelty: 0.00441336

p_int: 0.999957701

p_ni: 0.000042299

Score: 0.867

Data Source: BioPlex,STRINGDB

PPP1R12B

Tbio

Family: Enzyme

Novelty: 0.0424259

p_int: 0.999761219

p_ni: 0.000087032

p_wrong: 0.000151749

Data Source: BioPlex

MB

Tbio

Novelty: 0.00008405

p_int: 0.995671066

p_ni: 0.003466394

p_wrong: 0.000862541

Score: 0.265

Data Source: BioPlex,STRINGDB

PDS5B

Tbio

Novelty: 0.00295057

p_int: 0.993672137

p_ni: 0.006327851

p_wrong: 1.2e-8

Score: 0.194

Data Source: BioPlex,STRINGDB

VAC14

Tbio

Novelty: 0.02677738

p_int: 0.978973006

p_ni: 0.021026994

Score: 0.768

Data Source: BioPlex,STRINGDB

NELFB

Tbio

Novelty: 0.05821821

p_int: 0.932192192

p_ni: 0.067047519

p_wrong: 0.000760289

Score: 0.224

Data Source: BioPlex,STRINGDB

ITGAM

Tbio

Novelty: 0.00017521

Score: 0.999

Data Source: STRINGDB

Publication Statistics

PubMed Score  335.22

PubMed score by year

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PubTator Score  265.45

PubTator score by year

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Amino Acid Sequence

Residue Counts

Protein Sequence

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UniProt Keyword Find Similar Targets

3D-structure
Alternative promoter usage
Alternative splicing
ANK repeat
Complete proteome
Cytoplasm
Cytoskeleton
Direct protein sequencing
Disease mutation
Elliptocytosis

GWAS Trait Find Similar Targets

apolipoprotein B measurement
birth weight
Drugs used in diabetes use measurement
granulocyte percentage of myeloid white cells
HbA1c measurement
hemoglobin measurement
low density lipoprotein cholesterol measurement
lymphocyte count
lymphocyte percentage of leukocytes
mean corpuscular hemoglobin concentration

MGI Phenotype Find Similar Targets

behavior/neurological phenotype
cardiovascular system phenotype
endocrine/exocrine gland phenotype
growth/size/body region phenotype
hematopoietic system phenotype
homeostasis/metabolism phenotype
immune system phenotype
integument phenotype
liver/biliary system phenotype
mortality/aging