Human Gene ANKS1A (uc003ojx.4)
  Description: Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr6:34,857,038-35,059,190 Size: 202,153 Total Exon Count: 24 Strand: +
Coding Region
   Position: hg19 chr6:34,857,180-35,056,386 Size: 199,207 Coding Exon Count: 24 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:34,857,038-35,059,190)mRNA (may differ from genome)Protein (1134 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ANS1A_HUMAN
DESCRIPTION: RecName: Full=Ankyrin repeat and SAM domain-containing protein 1A; AltName: Full=Odin;
FUNCTION: Regulator of different signaling pathways. Regulates EPHA8 receptor tyrosine kinase signaling to control cell migration and neurite retraction (By similarity).
SUBUNIT: Interacts with EPHA8; EPHA8 kinase activity-independent but stimulated by EPHA8 ubiquitination (By similarity).
SUBCELLULAR LOCATION: Cytoplasm. Cell projection (By similarity). Note=Cytoplasmic before and after growth factor treatment.
TISSUE SPECIFICITY: Widely expressed (at protein level).
PTM: Phosphorylated on tyrosine residues in response to EGF and PDGF (By similarity).
SIMILARITY: Contains 6 ANK repeats.
SIMILARITY: Contains 1 PID domain.
SIMILARITY: Contains 2 SAM (sterile alpha motif) domains.
SEQUENCE CAUTION: Sequence=BAA13218.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ANKS1A
CDC HuGE Published Literature: ANKS1A
Positive Disease Associations: Alcoholism , Coronary Artery Disease , height
Related Studies:
  1. Alcoholism
    Andrew C Heath et al. Biological psychiatry 2011, A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications., Biological psychiatry. [PubMed 21529783]
    We conclude that 1) meta-analyses of consumption data may contribute usefully to gene discovery; 2) translation of human alcoholism GWAS results to drug discovery or clinically useful prediction of risk will be challenging; and 3) through accumulation across studies, GWAS data may become valuable for improved genetic risk differentiation in research in biological psychiatry (e.g., prospective high-risk or resilience studies).
  2. Coronary Artery Disease
    Heribert Schunkert et al. Nature genetics 2011, Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease., Nature genetics. [PubMed 21378990]
  3. height
    Gudbjartsson ,et al. 2008, Many sequence variants affecting diversity of adult human height, Nature genetics 2008 40- 5 : 609-15. [PubMed 18391951]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: ANKS1A
Diseases sorted by gene-association score: adjustment disorder (9)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 34.04 RPKM in Esophagus - Muscularis
Total median expression: 585.55 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 -59.80142-0.421 Picture PostScript Text
3' UTR -1031.142804-0.368 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
IPR011993 - PH_like_dom
IPR006020 - PTyr_interaction_dom
IPR001660 - SAM
IPR013761 - SAM/pointed
IPR021129 - SAM_type1

Pfam Domains:
PF00023 - Ankyrin repeat
PF00536 - SAM domain (Sterile alpha motif)
PF00640 - Phosphotyrosine interaction domain (PTB/PID)
PF07647 - SAM domain (Sterile alpha motif)
PF12796 - Ankyrin repeats (3 copies)
PF13606 - Ankyrin repeat
PF13637 - Ankyrin repeats (many copies)
PF13857 - Ankyrin repeats (many copies)

SCOP Domains:
47769 - SAM/Pointed domain
50729 - PH domain-like
48403 - Ankyrin repeat

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2LMR - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q92625
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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 orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0046875 ephrin receptor binding

Biological Process:
GO:0006929 substrate-dependent cell migration
GO:0016322 neuron remodeling
GO:0048013 ephrin receptor signaling pathway
GO:1901187 regulation of ephrin receptor signaling pathway

Cellular Component:
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0042995 cell projection
GO:0043005 neuron projection


-  Descriptions from all associated GenBank mRNAs
  BC022396 - Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A, mRNA (cDNA clone IMAGE:4618556), partial cds.
D86982 - Homo sapiens mRNA for KIAA0229 gene.
BC031934 - Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A, mRNA (cDNA clone MGC:42354 IMAGE:4819948), complete cds.
AK298987 - Homo sapiens cDNA FLJ60812 complete cds, highly similar to Ankyrin repeat and SAM domain-containing protein 1A.
BC132832 - Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A, mRNA (cDNA clone MGC:164463 IMAGE:40146854), complete cds.
BC144341 - Homo sapiens cDNA clone IMAGE:9052861, with apparent retained intron.
AB385297 - Synthetic construct DNA, clone: pF1KA0229, Homo sapiens ANKS1A gene for ankyrin repeat and SAM domain-containing protein 1A, complete cds, without stop codon, in Flexi system.
JD211267 - Sequence 192291 from Patent EP1572962.
JD074972 - Sequence 55996 from Patent EP1572962.
JD341671 - Sequence 322695 from Patent EP1572962.
JD409217 - Sequence 390241 from Patent EP1572962.
JD220505 - Sequence 201529 from Patent EP1572962.
JD462527 - Sequence 443551 from Patent EP1572962.
JD278938 - Sequence 259962 from Patent EP1572962.
JC506674 - Sequence 42 from Patent EP2733220.
JC506688 - Sequence 56 from Patent EP2733220.
JC737786 - Sequence 42 from Patent WO2014075939.
JC737800 - Sequence 56 from Patent WO2014075939.
EF491787 - Homo sapiens clone ANKS1A/ODIN mRNA, partial sequence; alternatively spliced.
DQ592437 - Homo sapiens piRNA piR-59549, complete sequence.
DQ582836 - Homo sapiens piRNA piR-32948, complete sequence.
BC049213 - Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A, mRNA (cDNA clone IMAGE:5528059).
DQ599639 - Homo sapiens piRNA piR-37705, complete sequence.
JD275877 - Sequence 256901 from Patent EP1572962.
JD478803 - Sequence 459827 from Patent EP1572962.
JD415433 - Sequence 396457 from Patent EP1572962.
JD520399 - Sequence 501423 from Patent EP1572962.
JD143262 - Sequence 124286 from Patent EP1572962.
JD562732 - Sequence 543756 from Patent EP1572962.
JD284351 - Sequence 265375 from Patent EP1572962.
JD356125 - Sequence 337149 from Patent EP1572962.
JD422095 - Sequence 403119 from Patent EP1572962.
JD248291 - Sequence 229315 from Patent EP1572962.
JD105433 - Sequence 86457 from Patent EP1572962.
JD147482 - Sequence 128506 from Patent EP1572962.
JD147904 - Sequence 128928 from Patent EP1572962.
JD195123 - Sequence 176147 from Patent EP1572962.
JD107760 - Sequence 88784 from Patent EP1572962.
JD360503 - Sequence 341527 from Patent EP1572962.
JD320193 - Sequence 301217 from Patent EP1572962.
JD510761 - Sequence 491785 from Patent EP1572962.
AK025381 - Homo sapiens cDNA: FLJ21728 fis, clone COLF1417.
JD326618 - Sequence 307642 from Patent EP1572962.
JD197190 - Sequence 178214 from Patent EP1572962.
JD393216 - Sequence 374240 from Patent EP1572962.
JD294596 - Sequence 275620 from Patent EP1572962.
JD495331 - Sequence 476355 from Patent EP1572962.
JD133138 - Sequence 114162 from Patent EP1572962.
JD294812 - Sequence 275836 from Patent EP1572962.
JD392257 - Sequence 373281 from Patent EP1572962.
JD185012 - Sequence 166036 from Patent EP1572962.
JD423383 - Sequence 404407 from Patent EP1572962.
JD234735 - Sequence 215759 from Patent EP1572962.
JD294590 - Sequence 275614 from Patent EP1572962.
JD210857 - Sequence 191881 from Patent EP1572962.
JD326469 - Sequence 307493 from Patent EP1572962.
JD093913 - Sequence 74937 from Patent EP1572962.
JD403724 - Sequence 384748 from Patent EP1572962.
JD109564 - Sequence 90588 from Patent EP1572962.
JD348352 - Sequence 329376 from Patent EP1572962.
JD044041 - Sequence 25065 from Patent EP1572962.
JD546392 - Sequence 527416 from Patent EP1572962.
JD185502 - Sequence 166526 from Patent EP1572962.
JD538762 - Sequence 519786 from Patent EP1572962.
JD278228 - Sequence 259252 from Patent EP1572962.
JD563974 - Sequence 544998 from Patent EP1572962.
JD257264 - Sequence 238288 from Patent EP1572962.
JD326401 - Sequence 307425 from Patent EP1572962.
JD136458 - Sequence 117482 from Patent EP1572962.
JD547098 - Sequence 528122 from Patent EP1572962.
JD387300 - Sequence 368324 from Patent EP1572962.
JD342625 - Sequence 323649 from Patent EP1572962.
JD201224 - Sequence 182248 from Patent EP1572962.
JD134968 - Sequence 115992 from Patent EP1572962.
JD371646 - Sequence 352670 from Patent EP1572962.
JD108427 - Sequence 89451 from Patent EP1572962.
JD452910 - Sequence 433934 from Patent EP1572962.
JD259692 - Sequence 240716 from Patent EP1572962.
JD503550 - Sequence 484574 from Patent EP1572962.
JD048315 - Sequence 29339 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A2RUC1, ANKS1, ANS1A_HUMAN, KIAA0229, NM_015245, NP_056060, ODIN, Q5JYI9, Q5SYR2, Q86WQ7, Q92625
UCSC ID: uc003ojx.4
RefSeq Accession: NM_015245
Protein: Q92625 (aka ANS1A_HUMAN)
CCDS: CCDS4798.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_015245.2
exon count: 24CDS single in 3' UTR: no RNA size: 6355
ORF size: 3405CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 7001.00frame shift in genome: no % Coverage: 99.94
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.