Human Gene ANK1 (ENST00000265709.14) from GENCODE V44
  Description: Homo sapiens ankyrin 1 (ANK1), transcript variant 9, mRNA. (from RefSeq NM_001142446)
RefSeq Summary (NM_001142446): 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].
Gencode Transcript: ENST00000265709.14
Gencode Gene: ENSG00000029534.22
Transcript (Including UTRs)
   Position: hg38 chr8:41,653,225-41,896,741 Size: 243,517 Total Exon Count: 43 Strand: -
Coding Region
   Position: hg38 chr8:41,655,727-41,896,480 Size: 240,754 Coding Exon Count: 43 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:41,653,225-41,896,741)mRNA (may differ from genome)Protein (1897 aa)
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-  Comments and Description Text from UniProtKB
  ID: ANK1_HUMAN
DESCRIPTION: RecName: Full=Ankyrin-1; Short=ANK-1; AltName: Full=Ankyrin-R; AltName: Full=Erythrocyte ankyrin;
FUNCTION: Attaches integral membrane proteins to cytoskeletal elements; binds to the erythrocyte membrane protein band 4.2, to Na-K ATPase, to the lymphocyte membrane protein GP85, and to the cytoskeletal proteins fodrin, tubulin, vimentin and desmin. Erythrocyte ankyrins also link spectrin (beta chain) to the cytoplasmic domain of the erythrocytes anion exchange protein; they retain most or all of these binding functions.
FUNCTION: Isoform Mu17 together with obscurin in skeletal muscle may provide a molecular link between the sarcoplasmic reticulum and myofibrils.
SUBUNIT: Interacts with a number of integral membrane proteins and cytoskeletal proteins. Interacts (via N-terminus) with SPTB/spectrin (beta chain). Interacts (via N-terminus ANK repeats) with SLC4A1/erythrocyte membrane protein band 3 (via cytoplasmic N-terminus). Also interacts with TTN/titin. Isoform Mu17 interacts with OBSCN isoform 3/obscurin. Interacts with HIF1AN.
INTERACTION: Q5VST9-3:OBSCN; NbExp=3; IntAct=EBI-941686, EBI-941921;
SUBCELLULAR LOCATION: Isoform Er1: Cytoplasm, cytoskeleton. Note=Probably the other erythrocyte (Er) isoforms, are located near the surface of erythrocytic plasma membrane.
SUBCELLULAR LOCATION: Isoform Mu17: Membrane. Cytoplasm, myofibril, sarcomere, M line. Note=Colocalizes with OBSCN isoform 3/obscurin at the M line in differentiated skeletal muscle cells.
SUBCELLULAR LOCATION: Isoform Mu18: Sarcoplasmic reticulum (Probable).
SUBCELLULAR LOCATION: Isoform Mu19: Sarcoplasmic reticulum (Probable).
SUBCELLULAR LOCATION: Isoform Mu20: Sarcoplasmic reticulum (Probable).
TISSUE SPECIFICITY: Isoform Mu17, isoform Mu18, isoform Mu19 and isoform Mu20 are expressed in skeletal muscle. Isoform Br21 is expressed in brain.
DOMAIN: The 55 kDa regulatory domain is involved in regulating binding of SPTB/spectrin (beta chain) and SLC4A1/erythrocyte membrane protein band 3.
DOMAIN: The ANK repeat region forms a spiral around a large central cavity and is involved in binding of ion transporters.
DOMAIN: The tandem configuration of the two ZU5 and the UPA domains forms a structural supramodule termed ZZU. ZU5-1 mediates interaction with beta-spectrin, and the ZU5-1/UPA interface is required for ankyrin's function other than binding to spectrin (By similarity).
PTM: Regulated by phosphorylation.
PTM: Palmitoylated.
PTM: Hydroxylated by HIF1AN at several asparagine and 1 aspartate residue within ANK repeat region. Hydroxylation seems to increase the conformational stability of this region and may also modulate protein-protein interactions mediated by the ANK repeat region.
DISEASE: Defects in ANK1 are a cause of spherocytosis type 1 (SPH1) [MIM:182900]; also called hereditary spherocytosis type 1 (HS1). Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Inheritance can be autosomal dominant or recessive.
SIMILARITY: Contains 23 ANK repeats.
SIMILARITY: Contains 1 death domain.
SIMILARITY: Contains 2 ZU5 domains.
SEQUENCE CAUTION: Sequence=AAB47805.1; Type=Erroneous gene model prediction;
WEB RESOURCE: Name=Wikipedia; Note=Ankyrin entry; URL="http://en.wikipedia.org/wiki/Ankyrin";

-  Primer design for this transcript
 

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-  MalaCards Disease Associations
  MalaCards Gene Search: ANK1
Diseases sorted by gene-association score: spherocytosis, type 1* (1204), hereditary spherocytosis* (799), ank1-related spherocytosis* (500), 8p11.2 deletion syndrome* (25), hemolytic anemia (10), hereditary elliptocytosis (10), human granulocytic anaplasmosis (9), ehrlichiosis (6), congenital hemolytic anemia (4), kallmann syndrome (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 34.57 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 130.53 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -137.40261-0.526 Picture PostScript Text
3' UTR -1015.902502-0.406 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002110 - Ankyrin_rpt
IPR020683 - Ankyrin_rpt-contain_dom
IPR000488 - Death
IPR011029 - DEATH-like
IPR000906 - ZU5

Pfam Domains:
PF00023 - Ankyrin repeat
PF00531 - Death domain
PF00791 - ZU5 domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1N11 - X-ray MuPIT 2YQF - NMR MuPIT 2YVI - X-ray MuPIT 3F59 - X-ray MuPIT 3KBT - X-ray MuPIT 3KBU - X-ray MuPIT 3UD1 - X-ray MuPIT 3UD2 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P16157
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005198 structural molecule activity
GO:0005200 structural constituent of cytoskeleton
GO:0005515 protein binding
GO:0008093 cytoskeletal adaptor activity
GO:0019899 enzyme binding
GO:0030507 spectrin binding
GO:0051117 ATPase binding

Biological Process:
GO:0006887 exocytosis
GO:0006888 ER to Golgi vesicle-mediated transport
GO:0007010 cytoskeleton organization
GO:0007165 signal transduction
GO:0010638 positive regulation of organelle organization
GO:0045199 maintenance of epithelial cell apical/basal polarity
GO:0072659 protein localization to plasma membrane

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0014731 spectrin-associated cytoskeleton
GO:0016020 membrane
GO:0016323 basolateral plasma membrane
GO:0016529 sarcoplasmic reticulum
GO:0030018 Z disc
GO:0030673 axolemma
GO:0031430 M band
GO:0031672 A band
GO:0042383 sarcolemma
GO:0043005 neuron projection
GO:0045211 postsynaptic membrane


-  Descriptions from all associated GenBank mRNAs
  X16609 - Human mRNA for ankyrin (variant 2.1).
AK126647 - Homo sapiens cDNA FLJ44690 fis, clone BRACE3013418, highly similar to Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 2, mRNA.
AB209418 - Homo sapiens mRNA for ankyrin 1 isoform 4 variant protein.
M28880 - Human erythroid ankyrin mRNA, complete cds.
BC156401 - Synthetic construct Homo sapiens clone IMAGE:100061934, MGC:190130 ankyrin 1, erythrocytic (ANK1) mRNA, encodes complete protein.
BX647936 - Homo sapiens mRNA; cDNA DKFZp686N0623 (from clone DKFZp686N0623).
JD204882 - Sequence 185906 from Patent EP1572962.
JD330097 - Sequence 311121 from Patent EP1572962.
JD402468 - Sequence 383492 from Patent EP1572962.
JD151688 - Sequence 132712 from Patent EP1572962.
JD143332 - Sequence 124356 from Patent EP1572962.
JD476347 - Sequence 457371 from Patent EP1572962.
JD462247 - Sequence 443271 from Patent EP1572962.
JD495956 - Sequence 476980 from Patent EP1572962.
JD441178 - Sequence 422202 from Patent EP1572962.
JD543491 - Sequence 524515 from Patent EP1572962.
JD151889 - Sequence 132913 from Patent EP1572962.
JD457586 - Sequence 438610 from Patent EP1572962.
JD109534 - Sequence 90558 from Patent EP1572962.
JD275342 - Sequence 256366 from Patent EP1572962.
JD437363 - Sequence 418387 from Patent EP1572962.
JD187823 - Sequence 168847 from Patent EP1572962.
JD361898 - Sequence 342922 from Patent EP1572962.
JD075929 - Sequence 56953 from Patent EP1572962.
JD225020 - Sequence 206044 from Patent EP1572962.
JD445291 - Sequence 426315 from Patent EP1572962.
JD464893 - Sequence 445917 from Patent EP1572962.
JD156374 - Sequence 137398 from Patent EP1572962.
JD193790 - Sequence 174814 from Patent EP1572962.
JD105430 - Sequence 86454 from Patent EP1572962.
JD074788 - Sequence 55812 from Patent EP1572962.
JD258123 - Sequence 239147 from Patent EP1572962.
JD219737 - Sequence 200761 from Patent EP1572962.
JD077912 - Sequence 58936 from Patent EP1572962.
JD288185 - Sequence 269209 from Patent EP1572962.
JD262692 - Sequence 243716 from Patent EP1572962.
AK129864 - Homo sapiens cDNA FLJ26354 fis, clone HRT04949, highly similar to Homo sapiens ankyrin 1, erythrocytic (ANK1).
JD222948 - Sequence 203972 from Patent EP1572962.
JD240192 - Sequence 221216 from Patent EP1572962.
JD429226 - Sequence 410250 from Patent EP1572962.
JD548872 - Sequence 529896 from Patent EP1572962.
AK223578 - Homo sapiens mRNA for ankyrin 1 isoform 5 variant, clone: FCC129G03.
BC007930 - Homo sapiens ankyrin 1, erythrocytic, mRNA (cDNA clone IMAGE:4122876), complete cds.
BC014467 - Homo sapiens ankyrin 1, erythrocytic, mRNA (cDNA clone IMAGE:4854211), with apparent retained intron.
BC030957 - Homo sapiens ankyrin 1, erythrocytic, mRNA (cDNA clone IMAGE:4245014), complete cds.
JD195788 - Sequence 176812 from Patent EP1572962.
JD310587 - Sequence 291611 from Patent EP1572962.
JD042715 - Sequence 23739 from Patent EP1572962.
JD186671 - Sequence 167695 from Patent EP1572962.
JD155195 - Sequence 136219 from Patent EP1572962.
JD438171 - Sequence 419195 from Patent EP1572962.
JD048539 - Sequence 29563 from Patent EP1572962.
JD162707 - Sequence 143731 from Patent EP1572962.
JD097218 - Sequence 78242 from Patent EP1572962.
JD097854 - Sequence 78878 from Patent EP1572962.
JD054295 - Sequence 35319 from Patent EP1572962.
JD154826 - Sequence 135850 from Patent EP1572962.
JD041617 - Sequence 22641 from Patent EP1572962.
JD522156 - Sequence 503180 from Patent EP1572962.
JD408173 - Sequence 389197 from Patent EP1572962.
KJ901284 - Synthetic construct Homo sapiens clone ccsbBroadEn_10678 ANK1 gene, encodes complete protein.
BC117121 - Homo sapiens ankyrin 1, erythrocytic, mRNA (cDNA clone IMAGE:40125672), partial cds.
HQ447752 - Synthetic construct Homo sapiens clone IMAGE:100071083; CCSB013235_01 ankyrin 1, erythrocytic (ANK1) gene, encodes complete protein.
KJ896422 - Synthetic construct Homo sapiens clone ccsbBroadEn_05816 ANK1 gene, encodes complete protein.
CU689050 - Synthetic construct Homo sapiens gateway clone IMAGE:100022080 5' read ANK1 mRNA.
JD539773 - Sequence 520797 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_PDZsPathway - Synaptic Proteins at the Synaptic Junction

Reactome (by CSHL, EBI, and GO)

Protein P16157 (Reactome details) participates in the following event(s):

R-HSA-373729 Neurofascin binds Ankyrin-G
R-HSA-447030 NrCAM binds Ankyrin-G
R-HSA-447034 CHL1 interacts with Ankyrin-G
R-HSA-445091 Phosphorylation of Neurofascin
R-HSA-443774 Trans-homodimerization of Neurofascin
R-HSA-374675 L1 dimer binds Ankyrin
R-HSA-445076 Phosphorylation of Y1229 in L1
R-HSA-6807875 ARFGAP, cargo, v-SNAREs and p24 proteins bind nascent COPI complex
R-HSA-392751 L1 linked to actin cytoskeleton by ankyrin
R-HSA-373739 Ankyrins link voltage-gated sodium and potassium channels to spectrin and L1
R-HSA-6807877 ARFGAPs stimulate ARF GTPase activity
R-HSA-6809003 ERGIC-to-Golgi vesicles bind dynein:dynactin
R-HSA-6809006 Vesicle is tethered through binding GOLGA2:GORASP1, GOLGB1 and the COG complex
R-HSA-6809011 cis-Golgi t-SNAREs bind YKT6 on tethered vesicle
R-HSA-447043 Neurofascin interactions
R-HSA-447038 NrCAM interactions
R-HSA-447041 CHL1 interactions
R-HSA-445095 Interaction between L1 and Ankyrins
R-HSA-6807878 COPI-mediated anterograde transport
R-HSA-373760 L1CAM interactions
R-HSA-199977 ER to Golgi Anterograde Transport
R-HSA-422475 Axon guidance
R-HSA-199991 Membrane Trafficking
R-HSA-948021 Transport to the Golgi and subsequent modification
R-HSA-1266738 Developmental Biology
R-HSA-5653656 Vesicle-mediated transport
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: A6NJ23, ANK, ANK1_HUMAN, ENST00000265709.1, ENST00000265709.10, ENST00000265709.11, ENST00000265709.12, ENST00000265709.13, ENST00000265709.2, ENST00000265709.3, ENST00000265709.4, ENST00000265709.5, ENST00000265709.6, ENST00000265709.7, ENST00000265709.8, ENST00000265709.9, NM_001142446, O43400, P16157, Q13768, Q59FP2, Q8N604, Q99407, uc003xom.1, uc003xom.2, uc003xom.3, uc003xom.4, uc003xom.5, uc003xom.6
UCSC ID: ENST00000265709.14
RefSeq Accession: NM_001142446
Protein: P16157 (aka ANK1_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.