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ANKRD9 ankyrin repeat domain 9 [ Homo sapiens (human) ]

Gene ID: 122416, updated on 23-Nov-2021

Summary

Official Symbol
ANKRD9provided by HGNC
Official Full Name
ankyrin repeat domain 9provided by HGNC
Primary source
HGNC:HGNC:20096
See related
Ensembl:ENSG00000156381 MIM:618605
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Broad expression in duodenum (RPKM 15.4), small intestine (RPKM 11.1) and 22 other tissues See more
Orthologs
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Genomic context

See ANKRD9 in Genome Data Viewer
Location:
14q32.31
Exon count:
4
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (102501767..102509776, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (102968104..102976113, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene zinc finger protein 839 Neighboring gene cyclin dependent kinase 2 interacting protein Neighboring gene tectonin beta-propeller repeat containing 2 Neighboring gene uncharacterized LOC105370679 Neighboring gene RNA, U6 small nuclear 244, pseudogene Neighboring gene uncharacterized LOC105370680

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

Phenotypes

Associated conditions

Description Tests
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
GeneReviews: Not available

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of ankyrin repeat domain 9 (ANKRD9) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC21990

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ubiquitin ligase-substrate adaptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
involved_in cellular copper ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
involved_in protein ubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
part_of Cul5-RING ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ankyrin repeat domain-containing protein 9

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001348651.2NP_001335580.1  ankyrin repeat domain-containing protein 9

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. All three variants encode the same protein.
    Source sequence(s)
    AL136293
    Consensus CDS
    CCDS9973.1
    UniProtKB/Swiss-Prot
    Q96BM1
    Conserved Domains (2) summary
    cd00204
    Location:119198
    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:158189
    ANK; ANK repeat [structural motif]
  2. NM_001348652.2NP_001335581.1  ankyrin repeat domain-containing protein 9

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
    Source sequence(s)
    AK291868, AL136293
    Consensus CDS
    CCDS9973.1
    UniProtKB/Swiss-Prot
    Q96BM1
    Related
    ENSP00000453650.1, ENST00000560748.5
    Conserved Domains (2) summary
    cd00204
    Location:119198
    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:158189
    ANK; ANK repeat [structural motif]
  3. NM_152326.4NP_689539.1  ankyrin repeat domain-containing protein 9

    See identical proteins and their annotated locations for NP_689539.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
    Source sequence(s)
    AL136293, AW138815, BX161460
    Consensus CDS
    CCDS9973.1
    UniProtKB/Swiss-Prot
    Q96BM1
    Related
    ENSP00000286918.4, ENST00000286918.9
    Conserved Domains (2) summary
    cd00204
    Location:119198
    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:158189
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    102501767..102509776 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005267310.3XP_005267367.1  ankyrin repeat domain-containing protein 9 isoform X1

    See identical proteins and their annotated locations for XP_005267367.1

    UniProtKB/Swiss-Prot
    Q96BM1
    Related
    ENSP00000453417.1, ENST00000559404.5
    Conserved Domains (2) summary
    cd00204
    Location:119198
    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:158189
    ANK; ANK repeat [structural motif]
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