ANK1 Chromosome 8
Ankyrin 1
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What This Gene Does
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 Info
Gene Group
"Ankyrin repeat domain containing|MicroRNA protein coding host genes|ZU5 domain containing "
Locus Type
gene with protein product
Location
8p11.21
Ensembl
ENSG00000029534
Associated Conditions (14)
Spherocytosis
Hereditary spherocytosis type 1
ANK1-related disorder
Inborn genetic diseases
Malignant tumor of esophagus
Immunodeficiency 62
Ovarian serous cystadenocarcinoma
Familial cancer of breast
Cervical cancer
See cases
SPHEROCYTOSIS
TYPE 1
AUTOSOMAL RECESSIVE
Hereditary spherocytosis
Key Variants
RS112677283
Conflicting classifications of pathogenicity
Spherocytosis, Hereditary spherocytosis type 1, Spherocytosis
Health Risk
RS114870847
Conflicting classifications of pathogenicity
Hereditary spherocytosis type 1, Spherocytosis, Hereditary spherocytosis type 1
Health Risk
RS114905632
Conflicting classifications of pathogenicity
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
Health Risk
RS115248068
Conflicting classifications of pathogenicity
Spherocytosis, Hereditary spherocytosis type 1, Spherocytosis
Health Risk
RS116137861
Conflicting classifications of pathogenicity
Hereditary spherocytosis type 1, Spherocytosis, Hereditary spherocytosis type 1
Health Risk
RS116148295
Conflicting classifications of pathogenicity
Spherocytosis, Hereditary spherocytosis type 1, Spherocytosis
Health Risk
RS116365681
Conflicting classifications of pathogenicity
Spherocytosis, Hereditary spherocytosis type 1, Spherocytosis
Health Risk
RS117184692
Conflicting classifications of pathogenicity
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
Health Risk
RS117516263
Conflicting classifications of pathogenicity
Hereditary spherocytosis type 1, Spherocytosis, Hereditary spherocytosis type 1
Health Risk
RS138767348
Conflicting classifications of pathogenicity
Hereditary spherocytosis type 1, Spherocytosis, Hereditary spherocytosis type 1
Health Risk
RS139375455
Conflicting classifications of pathogenicity
Hereditary spherocytosis type 1, ANK1-related disorder, Hereditary spherocytosis type 1
Health Risk
RS139623406
Conflicting classifications of pathogenicity
Spherocytosis, Hereditary spherocytosis type 1, Spherocytosis
Health Risk
All Variants (374)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2486923028 | Health Risk | Pathogenic | — |
| RS2486923136 | Health Risk | Pathogenic | Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486928338 | Health Risk | Pathogenic | Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486933207 | Health Risk | Pathogenic | — |
| RS2486933586 | Health Risk | Pathogenic | — |
| RS2486962958 | Health Risk | Pathogenic | Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486963515 | Health Risk | Pathogenic | — |
| RS2486967209 | Health Risk | Pathogenic | ANK1-related disorder, ANK1-related disorder |
| RS2486976242 | Health Risk | Pathogenic | — |
| RS2486976664 | Health Risk | Pathogenic | — |
| RS2486997282 | Health Risk | Pathogenic | Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486997285 | Health Risk | Pathogenic | — |
| RS2486997376 | Health Risk | Pathogenic | — |
| RS2487001941 | Health Risk | Pathogenic | Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2487001985 | Health Risk | Pathogenic | Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2487002050 | Health Risk | Pathogenic | — |
| RS2487036103 | Health Risk | Pathogenic | — |
| RS2487036360 | Health Risk | Pathogenic | — |
| RS2487161354 | Health Risk | Pathogenic | — |
| RS2487538167 | Health Risk | Pathogenic | Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2487561526 | Health Risk | Pathogenic | — |
| RS2487605887 | Health Risk | Pathogenic | Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2487606030 | Health Risk | Pathogenic | — |
| RS2487607030 | Health Risk | Pathogenic | Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2487635203 | Health Risk | Pathogenic | Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2487635534 | Health Risk | Pathogenic | Hereditary spherocytosis type 1, ANK1-related disorder, Hereditary spherocytosis type 1 |
| RS2487637881 | Health Risk | Pathogenic | Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2487638186 | Health Risk | Pathogenic | — |
| RS2487638564 | Health Risk | Pathogenic | — |
| RS2487638615 | Health Risk | Pathogenic | — |
| RS35681783 | Health Risk | Pathogenic | ANK1-related disorder, Hereditary spherocytosis type 1, ANK1-related disorder |
| RS376057905 | Health Risk | Pathogenic | Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS397514029 | Health Risk | Pathogenic | Hereditary spherocytosis type 1, ANK1-related disorder, Hereditary spherocytosis type 1 |
| RS538989808 | Health Risk | Pathogenic | Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS750820522 | Health Risk | Pathogenic | Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS756933506 | Health Risk | Pathogenic | — |
| RS777701149 | Health Risk | Pathogenic | Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS786205242 | Health Risk | Pathogenic | SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE |
| RS786205244 | Health Risk | Pathogenic | SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE |
| RS868452063 | Health Risk | Pathogenic | Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS886042022 | Health Risk | Pathogenic | — |
| RS1064795837 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1172677213 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS1187228917 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS137852831 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spherocytosis type 1, ANK1-related disorder, Hereditary spherocytosis type 1 |
| RS1554567249 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spherocytosis type 1, Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS1563502820 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS1586145051 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS1818974494 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spherocytosis type 1, ANK1-related disorder, Hereditary spherocytosis type 1 |
| RS2150556792 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |