Human Gene ANKRD1 (ENST00000371697.4_6) from GENCODE V47lift37
  Description: ankyrin repeat domain 1 (from RefSeq NM_014391.3)
Gencode Transcript: ENST00000371697.4_6
Gencode Gene: ENSG00000148677.7_7
Transcript (Including UTRs)
   Position: hg19 chr10:92,671,853-92,680,844 Size: 8,992 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr10:92,672,623-92,680,784 Size: 8,162 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:92,671,853-92,680,844)mRNA (may differ from genome)Protein (319 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ANKR1_HUMAN
DESCRIPTION: RecName: Full=Ankyrin repeat domain-containing protein 1; AltName: Full=Cardiac ankyrin repeat protein; AltName: Full=Cytokine-inducible gene C-193 protein; AltName: Full=Cytokine-inducible nuclear protein;
FUNCTION: May play an important role in endothelial cell activation. May act as a nuclear transcription factor that negatively regulates the expression of cardiac genes. Induction seems to be correlated with apoptotic cell death in hepatoma cells.
SUBUNIT: Interacts with YBX1 (By similarity). Interacts with TTN/titin.
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Mainly expressed in activated vascular endothelial cells. To a lower extent, also expressed in hepatoma cells.
INDUCTION: By TNF, IL1A/interleukin-1 alpha and parthenolide.
DISEASE: Defects in ANKRD1 may be a cause of total anomalous pulmonary venous return (TAPVR) [MIM:106700]. TAPVR is a rare congenital heart disease (CHD) in which the pulmonary veins fail to connect to the left atrium during cardiac development, draining instead into either the right atrium or one of its venous tributaries. This disease accounts for 1.5% of all CHDs and has a prevalence of approximately 1 out of 15'000 live births.
SIMILARITY: Contains 5 ANK repeats.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
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


-  MalaCards Disease Associations
  MalaCards Gene Search: ANKRD1
Diseases sorted by gene-association score: total anomalous pulmonary venous return 1* (316), ankrd1-related dilated cardiomyopathy* (100), familial isolated dilated cardiomyopathy* (65), diastolic heart failure (11), heart disease (10), dilated cardiomyopathy (1)
* = 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: 1491.91 RPKM in Heart - Atrial Appendage
Total median expression: 2729.41 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 -4.5060-0.075 Picture PostScript Text
3' UTR -180.90770-0.235 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

Pfam Domains:
PF00023 - Ankyrin repeat
PF12796 - Ankyrin repeats (3 copies)
PF13606 - Ankyrin repeat
PF13637 - Ankyrin repeats (many copies)
PF13857 - Ankyrin repeats (many copies)

SCOP Domains:
140860 - Pseudo ankyrin repeat-like
48403 - Ankyrin repeat

ModBase Predicted Comparative 3D Structure on Q15327
FrontTopSide
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 DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001085 RNA polymerase II transcription factor binding
GO:0001105 RNA polymerase II transcription coactivator activity
GO:0002039 p53 binding
GO:0003677 DNA binding
GO:0003714 transcription corepressor activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0031432 titin binding
GO:0042826 histone deacetylase binding
GO:0061629 RNA polymerase II sequence-specific DNA binding transcription factor binding
GO:0070412 R-SMAD binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0010976 positive regulation of neuron projection development
GO:0019216 regulation of lipid metabolic process
GO:0035690 cellular response to drug
GO:0035914 skeletal muscle cell differentiation
GO:0035994 response to muscle stretch
GO:0043065 positive regulation of apoptotic process
GO:0043517 positive regulation of DNA damage response, signal transduction by p53 class mediator
GO:0045214 sarcomere organization
GO:0045445 myoblast differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0050714 positive regulation of protein secretion
GO:0055008 cardiac muscle tissue morphogenesis
GO:0071222 cellular response to lipopolysaccharide
GO:0071260 cellular response to mechanical stimulus
GO:0071347 cellular response to interleukin-1
GO:0071356 cellular response to tumor necrosis factor
GO:0071407 cellular response to organic cyclic compound
GO:0071456 cellular response to hypoxia
GO:0071560 cellular response to transforming growth factor beta stimulus
GO:2000279 negative regulation of DNA biosynthetic process

Cellular Component:
GO:0001650 fibrillar center
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription factor complex
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0030016 myofibril
GO:0031674 I band


-  Descriptions from all associated GenBank mRNAs
  KJ893591 - Synthetic construct Homo sapiens clone ccsbBroadEn_02985 ANKRD1 gene, encodes complete protein.
KR710558 - Synthetic construct Homo sapiens clone CCSBHm_00014058 ANKRD1 (ANKRD1) mRNA, encodes complete protein.
BC018667 - Homo sapiens ankyrin repeat domain 1 (cardiac muscle), mRNA (cDNA clone MGC:27140 IMAGE:4245591), complete cds.
GQ891465 - Homo sapiens clone HEL-S-186 epididymis secretory sperm binding protein mRNA, complete cds.
AY903446 - Homo sapiens liver ankyrin repeat domain 1 mRNA, complete cds.
X83703 - H.sapiens mRNA for cytokine inducible nuclear protein.
JD199827 - Sequence 180851 from Patent EP1572962.
JD562848 - Sequence 543872 from Patent EP1572962.
JD501653 - Sequence 482677 from Patent EP1572962.
JD493075 - Sequence 474099 from Patent EP1572962.
AK290960 - Homo sapiens cDNA FLJ76040 complete cds, highly similar to Homo sapiens ankyrin repeat domain 1 (cardiac muscle) (ANKRD1), mRNA.
JD252059 - Sequence 233083 from Patent EP1572962.
JD276091 - Sequence 257115 from Patent EP1572962.
JD187940 - Sequence 168964 from Patent EP1572962.
JD174351 - Sequence 155375 from Patent EP1572962.
DQ892852 - Synthetic construct clone IMAGE:100005482; FLH190305.01X; RZPDo839G1075D ankyrin repeat domain 1 (cardiac muscle) (ANKRD1) gene, encodes complete protein.
DQ896099 - Synthetic construct Homo sapiens clone IMAGE:100010559; FLH190301.01L; RZPDo839G1065D ankyrin repeat domain 1 (cardiac muscle) (ANKRD1) gene, encodes complete protein.
AB528537 - Synthetic construct DNA, clone: pF1KB7629, Homo sapiens ANKRD1 gene for ankyrin repeat domain 1, without stop codon, in Flexi system.
BC005191 - Homo sapiens ankyrin repeat domain 1 (cardiac muscle), mRNA (cDNA clone IMAGE:3933902), partial cds.
JD504374 - Sequence 485398 from Patent EP1572962.
JD102212 - Sequence 83236 from Patent EP1572962.
JD108622 - Sequence 89646 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q15327 (Reactome details) participates in the following event(s):

R-HSA-1989781 PPARA activates gene expression
R-HSA-400206 Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ANKR1_HUMAN, C193, CARP, ENST00000371697.1, ENST00000371697.2, ENST00000371697.3, HA1A2, NM_014391, Q15327, Q96LE7, uc318jif.1, uc318jif.2
UCSC ID: ENST00000371697.4_6
RefSeq Accession: NM_014391.3
Protein: Q15327 (aka ANKR1_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ANKRD1:
dcm-ov (Dilated Cardiomyopathy Overview)
hyper-card (Hypertrophic Cardiomyopathy Overview)

-  Gene Model Information
  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.