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ANKRD11 ankyrin repeat domain 11 [ Homo sapiens (human) ]

Gene ID: 29123, updated on 1-Aug-2020

Summary

Official Symbol
ANKRD11provided by HGNC
Official Full Name
ankyrin repeat domain 11provided by HGNC
Primary source
HGNC:HGNC:21316
See related
Ensembl:ENSG00000167522 MIM:611192
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
T13; LZ16; ANCO1; ANCO-1
Summary
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]
Expression
Ubiquitous expression in ovary (RPKM 8.0), brain (RPKM 7.1) and 25 other tissues See more
Orthologs

Genomic context

See ANKRD11 in Genome Data Viewer
Location:
16q24.3
Exon count:
21
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (89267619..89490561, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (89334029..89556969, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 778 Neighboring gene uncharacterized LOC105371413 Neighboring gene uncharacterized LOC105371414 Neighboring gene uncharacterized LOC100287036 Neighboring gene uncharacterized LOC101927817 Neighboring gene RNA, U6 small nuclear 430, pseudogene Neighboring gene cytidine/uridine monophosphate kinase 1 pseudogene Neighboring gene uncharacterized LOC101930112 Neighboring gene uncharacterized LOC101927863 Neighboring gene SPG7 matrix AAA peptidase subunit, paraplegin

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
KBG syndrome
MedGen: C0220687 OMIM: 148050 GeneReviews: KBG Syndrome
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2013-06-20)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2013-06-20)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
anatomical structure morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bone development IEA
Inferred from Electronic Annotation
more info
 
face morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
odontogenesis of dentin-containing tooth IMP
Inferred from Mutant Phenotype
more info
PubMed 
skeletal system morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
tissue homeostasis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
ankyrin repeat domain-containing protein 11
Names
ankyrin repeat-containing cofactor 1
nasopharyngeal carcinoma susceptibility protein
truncated ankyrin repeat domain 11 aberrant transcript 1
truncated ankyrin repeat domain 11 aberrant transcript 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032003.2 RefSeqGene

    Range
    5001..227932
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001256182.2NP_001243111.1  ankyrin repeat domain-containing protein 11

    See identical proteins and their annotated locations for NP_001243111.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AY373756, AY533563, DA172996
    Consensus CDS
    CCDS32513.1
    UniProtKB/Swiss-Prot
    Q6UB99
    Related
    ENSP00000367581.2, ENST00000378330.7
    Conserved Domains (4) summary
    cd00204
    Location:162284
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:172264
    Ank_2; Ankyrin repeats (3 copies)
    pfam13476
    Location:656768
    AAA_23; AAA domain
    sd00045
    Location:167198
    ANK; ANK repeat [structural motif]
  2. NM_001256183.2NP_001243112.1  ankyrin repeat domain-containing protein 11

    See identical proteins and their annotated locations for NP_001243112.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AY373756, AY533563, BC069013, DA172996
    Consensus CDS
    CCDS32513.1
    UniProtKB/Swiss-Prot
    Q6UB99
    Related
    ENSP00000495226.1, ENST00000642600.1
    Conserved Domains (4) summary
    cd00204
    Location:162284
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:172264
    Ank_2; Ankyrin repeats (3 copies)
    pfam13476
    Location:656768
    AAA_23; AAA domain
    sd00045
    Location:167198
    ANK; ANK repeat [structural motif]
  3. NM_013275.6NP_037407.4  ankyrin repeat domain-containing protein 11

    See identical proteins and their annotated locations for NP_037407.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AY373756, AY533563, BC017437, DA172996
    Consensus CDS
    CCDS32513.1
    UniProtKB/Swiss-Prot
    Q6UB99
    Related
    ENSP00000301030.4, ENST00000301030.10
    Conserved Domains (4) summary
    cd00204
    Location:162284
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:172264
    Ank_2; Ankyrin repeats (3 copies)
    pfam13476
    Location:656768
    AAA_23; AAA domain
    sd00045
    Location:167198
    ANK; ANK repeat [structural motif]

RNA

  1. NR_045839.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has multiple differences compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC137932, AY373756, BC041059
    Related
    ENST00000378332.7

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    89267619..89490561 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017023182.2XP_016878671.1  ankyrin repeat domain-containing protein 11 isoform X1

    UniProtKB/Swiss-Prot
    Q6UB99
    Conserved Domains (4) summary
    cd00204
    Location:162284
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:172264
    Ank_2; Ankyrin repeats (3 copies)
    pfam13476
    Location:656768
    AAA_23; AAA domain
    sd00045
    Location:167198
    ANK; ANK repeat [structural motif]
  2. XM_017023185.1XP_016878674.1  ankyrin repeat domain-containing protein 11 isoform X1

    UniProtKB/Swiss-Prot
    Q6UB99
    Conserved Domains (4) summary
    cd00204
    Location:162284
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:172264
    Ank_2; Ankyrin repeats (3 copies)
    pfam13476
    Location:656768
    AAA_23; AAA domain
    sd00045
    Location:167198
    ANK; ANK repeat [structural motif]
  3. XM_006721184.2XP_006721247.1  ankyrin repeat domain-containing protein 11 isoform X5

    Conserved Domains (4) summary
    cd00204
    Location:63185
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:73165
    Ank_2; Ankyrin repeats (3 copies)
    pfam13476
    Location:557669
    AAA_23; AAA domain
    sd00045
    Location:6899
    ANK; ANK repeat [structural motif]
  4. XM_011523055.2XP_011521357.1  ankyrin repeat domain-containing protein 11 isoform X2

    See identical proteins and their annotated locations for XP_011521357.1

    Conserved Domains (5) summary
    cd00204
    Location:128250
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:133164
    ANK; ANK repeat [structural motif]
    cl25574
    Location:549755
    TOP2c; TopoisomeraseII
    cl26464
    Location:16572320
    Atrophin-1; Atrophin-1 family
    cl26511
    Location:6601274
    Neuromodulin_N; Gap junction protein N-terminal region
  5. XM_017023187.1XP_016878676.1  ankyrin repeat domain-containing protein 11 isoform X1

    UniProtKB/Swiss-Prot
    Q6UB99
    Conserved Domains (4) summary
    cd00204
    Location:162284
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:172264
    Ank_2; Ankyrin repeats (3 copies)
    pfam13476
    Location:656768
    AAA_23; AAA domain
    sd00045
    Location:167198
    ANK; ANK repeat [structural motif]
  6. XM_024450244.1XP_024306012.1  ankyrin repeat domain-containing protein 11 isoform X2

    Conserved Domains (5) summary
    cd00204
    Location:128250
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:133164
    ANK; ANK repeat [structural motif]
    cl25574
    Location:549755
    TOP2c; TopoisomeraseII
    cl26464
    Location:16572320
    Atrophin-1; Atrophin-1 family
    cl26511
    Location:6601274
    Neuromodulin_N; Gap junction protein N-terminal region
  7. XM_011523054.2XP_011521356.1  ankyrin repeat domain-containing protein 11 isoform X2

    See identical proteins and their annotated locations for XP_011521356.1

    Conserved Domains (5) summary
    cd00204
    Location:128250
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:133164
    ANK; ANK repeat [structural motif]
    cl25574
    Location:549755
    TOP2c; TopoisomeraseII
    cl26464
    Location:16572320
    Atrophin-1; Atrophin-1 family
    cl26511
    Location:6601274
    Neuromodulin_N; Gap junction protein N-terminal region
  8. XM_011523056.2XP_011521358.1  ankyrin repeat domain-containing protein 11 isoform X3

    Conserved Domains (4) summary
    cd00204
    Location:119241
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:129221
    Ank_2; Ankyrin repeats (3 copies)
    pfam13476
    Location:613725
    AAA_23; AAA domain
    sd00045
    Location:124155
    ANK; ANK repeat [structural motif]
  9. XM_011523053.2XP_011521355.1  ankyrin repeat domain-containing protein 11 isoform X1

    See identical proteins and their annotated locations for XP_011521355.1

    UniProtKB/Swiss-Prot
    Q6UB99
    Conserved Domains (4) summary
    cd00204
    Location:162284
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:172264
    Ank_2; Ankyrin repeats (3 copies)
    pfam13476
    Location:656768
    AAA_23; AAA domain
    sd00045
    Location:167198
    ANK; ANK repeat [structural motif]
  10. XM_017023184.1XP_016878673.1  ankyrin repeat domain-containing protein 11 isoform X1

    UniProtKB/Swiss-Prot
    Q6UB99
    Conserved Domains (4) summary
    cd00204
    Location:162284
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:172264
    Ank_2; Ankyrin repeats (3 copies)
    pfam13476
    Location:656768
    AAA_23; AAA domain
    sd00045
    Location:167198
    ANK; ANK repeat [structural motif]
  11. XM_017023183.1XP_016878672.1  ankyrin repeat domain-containing protein 11 isoform X1

    UniProtKB/Swiss-Prot
    Q6UB99
    Conserved Domains (4) summary
    cd00204
    Location:162284
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:172264
    Ank_2; Ankyrin repeats (3 copies)
    pfam13476
    Location:656768
    AAA_23; AAA domain
    sd00045
    Location:167198
    ANK; ANK repeat [structural motif]
  12. XM_017023186.1XP_016878675.1  ankyrin repeat domain-containing protein 11 isoform X1

    UniProtKB/Swiss-Prot
    Q6UB99
    Conserved Domains (4) summary
    cd00204
    Location:162284
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:172264
    Ank_2; Ankyrin repeats (3 copies)
    pfam13476
    Location:656768
    AAA_23; AAA domain
    sd00045
    Location:167198
    ANK; ANK repeat [structural motif]
  13. XM_011523051.3XP_011521353.1  ankyrin repeat domain-containing protein 11 isoform X1

    See identical proteins and their annotated locations for XP_011521353.1

    UniProtKB/Swiss-Prot
    Q6UB99
    Conserved Domains (4) summary
    cd00204
    Location:162284
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:172264
    Ank_2; Ankyrin repeats (3 copies)
    pfam13476
    Location:656768
    AAA_23; AAA domain
    sd00045
    Location:167198
    ANK; ANK repeat [structural motif]
  14. XM_011523057.2XP_011521359.1  ankyrin repeat domain-containing protein 11 isoform X4

    Conserved Domains (4) summary
    cd00204
    Location:162284
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:172264
    Ank_2; Ankyrin repeats (3 copies)
    pfam13476
    Location:656768
    AAA_23; AAA domain
    sd00045
    Location:167198
    ANK; ANK repeat [structural motif]
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