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
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
System
Tissue
Tissue level 1
Tissue level 2
Level
Pubmed
Species
Stage
Rna symbol
Blood / Hematopoietic
bone marrow
Muscular
striatum
skeletal
cells
System
Cell
Pubmed
Species
Stage
Rna symbol
Blood/Hematopoietic
erthrocyte
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
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)
