Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol ANK1 contributors: mct - updated : 12-03-2015
HGNC name ankyrin 1, erythrocytic
HGNC id 492
Corresponding disease
DEL8PP chromosome 8p proximal deletion
SPH1 hereditary spherocytosis, type II
Location 8p11.21      Physical location : 41.510.744 - 41.754.280
Synonym name
  • erythrocyte ankyrin
  • ankyrin-R
  • Synonym symbol(s) ANK, ANK-1, ANKR
    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
    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