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FLASH GENE
Symbol ANK1 contributors: mct - updated : 12-03-2015
HGNC name ankyrin 1, erythrocytic
HGNC id 492
DNA
TYPE functioning gene
STRUCTURE 243.54 kb     43 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence cytosine-phosphate-guanine/HTF
Binding site
text structure
  • GATA1, KLF3 and Sp1 binding sites
  • high G+C content, functional Sp1 binding sites and multiple transcription initiation sites
  • full activity of the promoter in erythroid cells requires GATA1 binding as well
  • 3 tissue-specific alternative promoters; erythroid-specific ankyrin 1 (ANK1E) core promoter contains a 5prime DNase I hypersensitive site (HS) with barrier insulator function that prevents gene silencing
  • MAPPING cloned Y linked Y status confirmed
    Map pter - NEFL - D8S131 ,D8S137 - D8S87 - D8S135 - ANK1 - PLAT PLAT - D8S22 - qter
    Text see RP1 , CEBPD
    Physical map
    ADAM18 8p11.21 a disintegrin and metalloproteinase domain 18 ADAM2 8p11.2 a disintegrin and metalloproteinase domain 2 (fertilin beta) INDO 8p11.2 indoleamine-pyrrole 2,3 dioxygenase LOC169355 8p11.22 hypothetical protein LOC169355 C8orf4 8p11.2 chromosome 8 open reading frame 4 FLJ13842 8p11.21 hypothetical protein FLJ13842 SFRP1 8p12-p11.2 secreted frizzled-related protein 1 GCP16 LOC392214 8 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) MGC14799 8p11.21 hypothetical protein MGC14799 DKFZp586M1819 8p11.21 putative lysophosphatidic acid acyltransferase FLJ25169 8p11.21 hypothetical protein FLJ25169 ANK1 8p11.2 ankyrin 1, erythrocytic MYST3 8p11 MYST histone acetyltransferase (monocytic leukemia) 3 AP3M2 8p11.2 adaptor-related protein complex 3, mu 2 subunit PLAT 8p12-p11.2 plasminogen activator, tissue LOC389650 8 LOC389650 IKBKB 8p11.2 inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta POLB 8p11.2 polymerase (DNA directed), beta DKK4 8p11.2-p11.1 dickkopf homolog 4 (Xenopus laevis) VDAC3 8q11.2 voltage-dependent anion channel 3 SLC20A2 8p12-q21 solute carrier family 20 (phosphate transporter), member 2 LOC114926 8p11.21 hypothetical protein BC013035 CHRNB3 8p11.2 cholinergic receptor, nicotinic, beta polypeptide 3 CHRNA6 8p22 cholinergic receptor, nicotinic, alpha polypeptide 6 THAP1 8p11.1 THAP domain containing, apoptosis associated protein 1 DKFZP564A022 8p11.21 hypothetical protein DKFZp564A022 HOOK3 8p11.21 hook homolog 3 (Drosophila) FNTA 8p22-q11 farnesyltransferase, CAAX box, alpha FLJ23356 8p11.21 hypothetical protein FLJ23356 FLJ32731 8p11.1 hypothetical protein FLJ32731 LOC347028 8p11.21 similar to AFG3-like protein 2 (Paraplegin-like protein) LOC340441 8p11.21 similar to pote protein; Expressed in prostate, ovary, testis, and placenta LOC389651 8 similar to hypothetical protein (L1H 3 region) - human
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    42 splicing 8240 - 1881 membrane of erythrocytes 2007 17520478
    also called variant 1/isoform 2.1
    42 splicing 7754 - 1719 membrane of erythrocytes 2007 17520478
    also called to variant 2/isoform 2.2
    43 splicing 8300 206.1 1880 membrane of erythrocytes 2007 17520478
    also called variant 3/isoform 3
    42 splicing 8165 - 1856 membrane of erythrocytes 2007 17520478
    also called variant 4/isoform 4
    5 splicing 3304 17.5 155 skeletal and cardiac muscle 2007 17720975
  • also called MU17, Ank 1.5 and sAnk1
  • concentrated in the network compartment of the sarcoplasmic reticulum membrane in skeletal muscle
  • absence of the N-terminal ankyrin repeat domain (90 kDa), responsible for binding integral membrane proteins, and the central domain (65 kDa), responsible for binding -spectrin
  • interaction with obscurin contributes to the sarcomeric alignment of the network sarcoplasmic reticulum around Z-disks and M-bands
  • interacting with KCTD6 (Obscurin and KCTD6 regulate cullin-dependent small ankyrin-1 (sAnk1.5) protein turnover)
  • 3 splicing 3103 - 109 skeletal and cardiac muscle 2006 17128827
  • Small ankyrin 1 (sAnk1), an integral protein of the sarcoplasmic reticulum
  • also called variant 7/isoform 7
  • binds with nanomolar affinity to the C terminus of obscurin, a giant protein surrounding the contractile apparatus in striated muscle (PMID: 17720975)
  • 4 splicing 3244 - 156 - -
    also called variant 10/isoform 10
    43 - 8486 - 1897 - 2006 16962094
  • also called variant 9/isoform 9
  • similarly to the known ANK1.5 isoform, was able to bind to obscurin
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticerthrocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal band 3 binding domain with 24 tandem subunits of 33 amino-acids (the SW16/Ank repeat), important for lipid-binding activity of the beta-spectrin ankyrin-binding domain and its substantial role in maintaining the spectrin-based skeleton distribution
  • a regulatory domain
  • a DEATH domain
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY adaptor , structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,intermed filament
    intracellular,nucleus
    basic FUNCTION
  • play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains
  • adapter protein acting not only at the plasma membrane but also early in the secretory pathway to facilitate the intracellular trafficking of ATP1A1 and presumably other selected proteins
  • plays no significant function in enucleation of mammalian erythroblasts
  • plays critical roles in bridging spectrin/actin cytoskeleton to the cell surface lipid membrane and serving as a docking site for multiple membrane/cytoskeleton proteins
  • ANK1, in association with SPTBN2, has a critical role in modulating neuronal sodium channel activity and hence neuron excitability
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component ANK1/SLC4A1 complex connects the spectrin-based skeleton to the plasma membrane and helps maintain the vertical and horizontal integrities of the mature erythrocyte
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction of KCTD6 with ANK1 may have implications beyond muscle for hereditary spherocytosis
  • SPTBN2 is essential for the recruitment and maintenance of ANK1 at the plasma membrane of Purkinje cell dendrites
  • ANK1 interacts with ATP2A1 through its TM and cytoplasmic domains to regulate ATP2A1 activity and modulate sequestration of Ca(2+) in the sarcoplasmic reticulum lumen
  • ANK1 interacts likely with SLN both directly and in complex with ATP2A1 and reduces SLN inhibitory effect on ATP2A1 activity
  • cell & other
  • intermediate filament associated protein (IFAP, type III)
  • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SPH1 , DEL8PP
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice with homozygous mutations of ankyrin (nb/nb mice) exhibit nearly complete ankyrin deficiency and severe hemolytic anemia