Human Gene ANK1 (uc003xoh.3) Description and Page Index
  Description: Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 3, mRNA.
RefSeq Summary (NM_020477): 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].
Transcript (Including UTRs)
   Position: hg19 chr8:41,510,744-41,563,759 Size: 53,016 Total Exon Count: 27 Strand: -
Coding Region
   Position: hg19 chr8:41,518,984-41,563,681 Size: 44,698 Coding Exon Count: 26 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr8:41,510,744-41,563,759)mRNA (may differ from genome)Protein (1034 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
Stanford SOURCETreefamUniProtKBWikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ANK1
CDC HuGE Published Literature: ANK1
Positive Disease Associations: Alzheimer Disease , Asthma , Body Height , Cholesterol, LDL , Diabetes Mellitus, Type 2 , Hemoglobin A, Glycosylated , Hip , Insulin , Insulin Resistance , Prostatic Neoplasms , Thyrotropin
Related Studies:
  1. Alzheimer Disease
    , , . [PubMed 0]
  2. Asthma
    Medea Imboden et al. The Journal of allergy and clinical immunology 2012, Genome-wide association study of lung function decline in adults with and without asthma., The Journal of allergy and clinical immunology. [PubMed 22424883]
    Genetic heterogeneity of lung function might be extensive. Our results suggest that genetic determinants of longitudinal and cross-sectional lung function differ and vary by asthma status.
  3. Body Height
    , , . [PubMed 0]
           more ... click here to view the complete list

-  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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  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 -21.5078-0.276 Picture PostScript Text
3' UTR -1076.272565-0.420 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
PF12796 - Ankyrin repeats (3 copies)
PF13606 - Ankyrin repeat
PF13637 - Ankyrin repeats (many copies)
PF13857 - Ankyrin repeats (many copies)

SCOP Domains:
47986 - DEATH domain
48403 - Ankyrin repeat

ModBase Predicted Comparative 3D Structure on B3KX39
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
 Gene Details    
 Gene Sorter    
 Protein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0007165 signal transduction

-  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.

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

-  Other Names for This Gene
  Alternate Gene Symbols: AK126647, B3KX39, B3KX39_HUMAN, NM_020477, NP_065210
UCSC ID: uc003xoh.3
RefSeq Accession: NM_020477
Protein: B3KX39

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: AK126647.1
exon count: 27CDS single in 3' UTR: no RNA size: 3588
ORF size: 3105CDS single in intron: no Alignment % ID: 99.97
txCdsPredict score: 6356.50frame shift in genome: no % Coverage: 99.97
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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