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

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; AllianceGenome:HGNC:20096
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
Summary: Enables ubiquitin-like ligase-substrate adaptor activity. Involved in intracellular copper ion homeostasis; proteasome-mediated ubiquitin-dependent protein catabolic process; and protein ubiquitination. Located in cytoplasmic vesicle and cytosol. Part of Cul5-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in duodenum (RPKM 15.4), small intestine (RPKM 11.1) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q32.31

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (102501767..102509776, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (96737669..96745678, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (102968104..102976113, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ANKRD9 regulates IMPDH2 abundance and macro-assembly in response to metabolic changes.
Title: ANKRD9 is a metabolically-controlled regulator of IMPDH2 abundance and macro-assembly.
show that ANKRD9 is genetically and functionally associated with tumor suppression by acting as a substrate receptor subunit of a CUL5-based E3 ubiquitin ligase that ubiquitinates substrate proteins as IMPDH2 and presumably IMPDH1, marking them for proteasomal degradation and turnover. Furthermore, ANKRD9 accomplishes its anti-proliferative and tumor-suppressive function via IMPDH2 degradation.
Title: ANKRD9 is associated with tumor suppression as a substrate receptor subunit of ubiquitin ligase.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH15690 (e-PCR)
- UniSTS:37144

G32972 (e-PCR)
- UniSTS:117549

Bdab1d07 (e-PCR)
- UniSTS:51355

A009Y10 (e-PCR)
- UniSTS:63439

A004S19 (e-PCR)
- UniSTS:39650

G27983 (e-PCR)
- UniSTS:81388

A003P27 (e-PCR)
- UniSTS:25340

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ubiquitin-like ligase-substrate adaptor activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in intracellular 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

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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)

NM_001348651.2 → NP_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

A8K753, Q96BM1

UniProtKB/TrEMBL

H0YM08

Related

ENSP00000453417.1, ENST00000559404.5

Conserved Domains (2) summary

cd00204
Location:119 → 198

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:158 → 189

ANK; ANK repeat [structural motif]
NM_001348652.2 → NP_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

A8K753, Q96BM1

UniProtKB/TrEMBL

H0YM08

Related

ENSP00000453650.1, ENST00000560748.5

Conserved Domains (2) summary

cd00204
Location:119 → 198

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:158 → 189

ANK; ANK repeat [structural motif]
NM_152326.4 → NP_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

A8K753, Q96BM1

UniProtKB/TrEMBL

H0YM08

Related

ENSP00000286918.4, ENST00000286918.9

Conserved Domains (2) summary

cd00204
Location:119 → 198

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:158 → 189

ANK; ANK repeat [structural motif]