ANK1 (ankyrin 1)

2003-11-01  

Identity

HGNC
LOCATION
8p11.21
LOCUSID
ALIAS
ANK,SPH1,SPH2
FUSION GENES

Other Information

Locus ID:

NCBI: 286
MIM: 612641
HGNC: 492
Ensembl: ENSG00000029534

Variants:

dbSNP: 286
ClinVar: 286
TCGA: ENSG00000029534
COSMIC: ANK1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000029534ENST00000265709P16157
ENSG00000029534ENST00000289734P16157
ENSG00000029534ENST00000314214P16157
ENSG00000029534ENST00000335651C9JN86
ENSG00000029534ENST00000347528P16157
ENSG00000029534ENST00000348036P16157
ENSG00000029534ENST00000518061H0YAY8
ENSG00000029534ENST00000520299H0YBS0
ENSG00000029534ENST00000522231Q6PK32
ENSG00000029534ENST00000522543P16157
ENSG00000029534ENST00000645531A0A2R8Y4B0

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
Proteoglycans in cancerKEGGhsa05205
Proteoglycans in cancerKEGGko05205
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
ER to Golgi Anterograde TransportREACTOMER-HSA-199977
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
L1CAM interactionsREACTOMER-HSA-373760
Interaction between L1 and AnkyrinsREACTOMER-HSA-445095
CHL1 interactionsREACTOMER-HSA-447041
Neurofascin interactionsREACTOMER-HSA-447043
NrCAM interactionsREACTOMER-HSA-447038
COPI-mediated anterograde transportREACTOMER-HSA-6807878

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
251290752014Alzheimer's disease: early alterations in brain DNA methylation at ANK1, BIN1, RHBDF2 and other loci.237
208586832010Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.170
251290772014Methylomic profiling implicates cortical deregulation of ANK1 in Alzheimer's disease.147
125277502003Binding of an ankyrin-1 isoform to obscurin suggests a molecular link between the sarcoplasmic reticulum and myofibrils in striated muscles.73
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
224567962012A single-nucleotide polymorphism in ANK1 is associated with susceptibility to type 2 diabetes in Japanese populations.39
211778722011Asparagine and aspartate hydroxylation of the cytoskeletal ankyrin family is catalyzed by factor-inhibiting hypoxia-inducible factor.32
177209752007Mapping the binding site on small ankyrin 1 for obscurin.30
121305212002Plasmodium falciparum cysteine protease falcipain-2 cleaves erythrocyte membrane skeletal proteins at late stages of parasite development.29
225738872012Obscurin and KCTD6 regulate cullin-dependent small ankyrin-1 (sAnk1.5) protein turnover.27

Citation

Dessen P

ANK1 (ankyrin 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/641/ank1