Human Gene ANKRD11 (uc002fnc.2) Description and Page Index
  Description: Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 3, mRNA.
RefSeq Summary (NM_001256183): This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome, which is characterized by macrodontia, distinctive craniofacial features, short stature, skeletal anomalies, global developmental delay, seizures and intellectual disability. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2 and X. [provided by RefSeq, Jan 2012].
Transcript (Including UTRs)
   Position: hg19 chr16:89,334,029-89,556,969 Size: 222,941 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg19 chr16:89,334,886-89,383,427 Size: 48,542 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:89,334,029-89,556,969)mRNA (may differ from genome)Protein (2663 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMGIneXtProtOMIM
PubMedStanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
  ID: ANR11_HUMAN
DESCRIPTION: RecName: Full=Ankyrin repeat domain-containing protein 11; AltName: Full=Ankyrin repeat-containing cofactor 1;
FUNCTION: May recruit HDACs to the p160 coactivators/nuclear receptor complex to inhibit ligand-dependent transactivation.
SUBUNIT: Interacts with the PAS region of the p160 coactivators.
SUBCELLULAR LOCATION: Nucleus.
DISEASE: Defects in ANKRD11 are the cause of KBG syndrome (KBGS) [MIM:148050]. A syndrome characterized by macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement that includes global developmental delay, seizures, and intellectual disability.
SIMILARITY: Contains 4 ANK repeats.
SEQUENCE CAUTION: Sequence=AAH69013.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ANKRD11
CDC HuGE Published Literature: ANKRD11
Positive Disease Associations: Blood Pressure Determination , Heart Failure , Schizophrenia
Related Studies:
  1. Blood Pressure Determination
    , , . [PubMed 0]
  2. Blood Pressure Determination
    , , . [PubMed 0]
  3. Heart Failure
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: ANKRD11
Diseases sorted by gene-association score: kbg syndrome* (1408), intellectual disability* (438), monocular esotropia* (400), astigmatism* (400), esotropia* (400), baraitser-winter syndrome 1* (231), cryptorchidism* (231), alacrima, achalasia, and mental retardation syndrome* (78), 16q24.3 microdeletion syndrome* (43), nasal cavity lymphoma (16), nasal cavity cancer (9), lymphocele (6), rectal disease (5), epidural neoplasm (5), nasal cavity squamous cell carcinoma (5)
* = 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: 14.45 RPKM in Pituitary
Total median expression: 490.81 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 -225.40458-0.492 Picture PostScript Text
3' UTR -302.10857-0.353 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:
48403 - Ankyrin repeat

ModBase Predicted Comparative 3D Structure on Q6UB99
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 orthologGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details  Gene Details  
Gene Sorter  Gene Sorter  
  EnsemblFlyBase  
  Protein SequenceProtein Sequence  
  AlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0001701 in utero embryonic development
GO:0001894 tissue homeostasis
GO:0035264 multicellular organism growth
GO:0042475 odontogenesis of dentin-containing tooth
GO:0048705 skeletal system morphogenesis
GO:0060323 head morphogenesis
GO:0060325 face morphogenesis
GO:0060348 bone development

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane


-  Descriptions from all associated GenBank mRNAs
  AY373756 - Homo sapiens ankyrin repeat-containing protein (ANKRD11) mRNA, complete cds.
AY533563 - Homo sapiens ankyrin repeat-containing cofactor-1 (ANCO1) mRNA, complete cds.
AK290994 - Homo sapiens cDNA FLJ78738 partial cds, highly similar to Homo sapiens ankyrin repeat-containing cofactor-1 (ANCO1) mRNA.
BC017437 - Homo sapiens ankyrin repeat domain 11, mRNA (cDNA clone IMAGE:2962958).
AB209186 - Homo sapiens mRNA for ankyrin repeat domain 11 variant protein.
AF121775 - Homo sapiens nasopharyngeal carcinoma susceptibility protein LZ16 mRNA, complete cds.
BC052290 - Homo sapiens ankyrin repeat domain 11, mRNA (cDNA clone IMAGE:6083559).
BC069013 - Homo sapiens ankyrin repeat domain 11, mRNA (cDNA clone IMAGE:5952586), partial cds.
BC025283 - Homo sapiens ankyrin repeat domain 11, mRNA (cDNA clone IMAGE:5018419).
BC041059 - Homo sapiens ankyrin repeat domain 11, mRNA (cDNA clone IMAGE:5443445), with apparent retained intron.
JD034593 - Sequence 15617 from Patent EP1572962.
JD022427 - Sequence 3451 from Patent EP1572962.
KJ534770 - Homo sapiens clone ANKRD11_iso-A_adult-A09 ankyrin repeat domain 11 isoform A (ANKRD11) mRNA, partial cds, alternatively spliced.
JD021946 - Sequence 2970 from Patent EP1572962.
JD030562 - Sequence 11586 from Patent EP1572962.
AK093762 - Homo sapiens cDNA FLJ36443 fis, clone THYMU2012891.
AX748291 - Sequence 1816 from Patent EP1308459.
DQ592960 - Homo sapiens piRNA piR-33072, complete sequence.
DQ598871 - Homo sapiens piRNA piR-36937, complete sequence.
AF130076 - Homo sapiens clone FLB9541 mRNA sequence.
BC058001 - Homo sapiens ankyrin repeat domain 11, mRNA (cDNA clone IMAGE:4609101), partial cds.
AK057803 - Homo sapiens cDNA FLJ25074 fis, clone CBL05861.
AK026001 - Homo sapiens cDNA: FLJ22348 fis, clone HRC06246, highly similar to AF064105 Homo sapiens Cdc14B3 phosphatase mRNA.
DQ577500 - Homo sapiens piRNA piR-45612, complete sequence.
BC007975 - Homo sapiens ankyrin repeat domain 11, mRNA (cDNA clone IMAGE:4106776), partial cds.
BC031340 - Homo sapiens ankyrin repeat domain 11, mRNA (cDNA clone IMAGE:4904047), partial cds.
BC041585 - Homo sapiens ankyrin repeat domain 11, mRNA (cDNA clone IMAGE:4901783), partial cds.
AY131227 - Homo sapiens medulloblastoma antigen MU-MB-20.240 mRNA, partial cds.
DQ596403 - Homo sapiens piRNA piR-34469, complete sequence.
AK025964 - Homo sapiens cDNA: FLJ22311 fis, clone HRC05185, highly similar to AF121775 Homo sapiens nasopharyngeal carcinoma susceptibility protein LZ16 mRNA.
JD396874 - Sequence 377898 from Patent EP1572962.
KM670020 - Homo sapiens truncated ankyrin repeat domain 11 aberrant transcript 2 (ANKRD11) mRNA, complete cds.
KM670019 - Homo sapiens truncated ankyrin repeat domain 11 aberrant transcript 1 (ANKRD11) mRNA, complete cds.
AK125549 - Homo sapiens cDNA FLJ43561 fis, clone PUAEN2003079.
JD046786 - Sequence 27810 from Patent EP1572962.
JD129440 - Sequence 110464 from Patent EP1572962.
JD461600 - Sequence 442624 from Patent EP1572962.
JD461601 - Sequence 442625 from Patent EP1572962.
JD406801 - Sequence 387825 from Patent EP1572962.
JD129458 - Sequence 110482 from Patent EP1572962.
JD191250 - Sequence 172274 from Patent EP1572962.
JD389916 - Sequence 370940 from Patent EP1572962.
JD191918 - Sequence 172942 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ANCO1, ANR11_HUMAN, NM_001256183, NP_037407, Q6NTG1, Q6QMF8, Q6UB99, uc002fnc.1
UCSC ID: uc002fnc.2
RefSeq Accession: NM_001256183
Protein: Q6UB99 (aka ANR11_HUMAN or ANRY_HUMAN)
CCDS: CCDS32513.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ANKRD11:
kbgs (KBG Syndrome)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001256183.1
exon count: 13CDS single in 3' UTR: no RNA size: 9307
ORF size: 7992CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 14994.50frame shift in genome: no % Coverage: 100.00
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.