UBXN7 UBX domain protein 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: UBXN7provided by HGNC
Official Full Name: UBX domain protein 7provided by HGNC
Primary source: HGNC:HGNC:29119
See related: Ensembl:ENSG00000163960 MIM:616379; AllianceGenome:HGNC:29119
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
Also known as: UBXD7
Summary: Enables RNA polymerase II-specific DNA-binding transcription factor binding activity; ubiquitin binding activity; and ubiquitin protein ligase binding activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Located in nucleoplasm. Part of VCP-NPL4-UFD1 AAA ATPase complex. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in bone marrow (RPKM 8.3), testis (RPKM 7.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q29

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (196347662..196432427, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (199066970..199151765, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (196074533..196159298, complement)

Chromosome 3 - NC_000003.12 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 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?

CircUBXN7 promotes macrophage infiltration and renal fibrosis associated with the IGF2BP2-dependent SP1 mRNA stability in diabetic kidney disease.
Title: CircUBXN7 promotes macrophage infiltration and renal fibrosis associated with the IGF2BP2-dependent SP1 mRNA stability in diabetic kidney disease.
HBV X Protein Induces Degradation of UBXN7, a Novel Negative Regulator of NF-kappaB Signaling, to Promote HBV Replication.
Title: HBV X Protein Induces Degradation of UBXN7, a Novel Negative Regulator of NF-κB Signaling, to Promote HBV Replication.
CircUBXN7 suppresses cell proliferation and facilitates cell apoptosis in lipopolysaccharide-induced cell injury by sponging miR-622 and regulating the IL6ST/JAK1/STAT3 axis.
Title: CircUBXN7 suppresses cell proliferation and facilitates cell apoptosis in lipopolysaccharide-induced cell injury by sponging miR-622 and regulating the IL6ST/JAK1/STAT3 axis.
UBXN7 cofactor of CRL3(KEAP1) and CRL2(VHL) ubiquitin ligase complexes mediates reciprocal regulation of NRF2 and HIF-1alpha proteins.
Title: UBXN7 cofactor of CRL3(KEAP1) and CRL2(VHL) ubiquitin ligase complexes mediates reciprocal regulation of NRF2 and HIF-1α proteins.
[Circular RNA-UBXN7 promotes proliferation, migration and suppresses apoptosis in hepatocellular cancer].
Title: [Circular RNA-UBXN7 promotes proliferation, migration and suppresses apoptosis in hepatocellular cancer].
Data suggest that dimerization of UBX domain protein 7 (UBXD7) could affect the formation of the p97 ATPase-UBXD7 complex.
Title: Crystal structures of the UBX domain of human UBXD7 and its complex with p97 ATPase.
Study finds that UBXN7 over-expression converts CUL2 to its neddylated form and causes the accumulation of non-ubiquitylated HIF1alpha.
Title: UBXN7 docks on neddylated cullin complexes using its UIM motif and causes HIF1α accumulation.
FAF1 and UBXD7 only bind to p97-UFD1/NPL4, but not free p97, thus demonstrating for the first time a hierarchy in p97-cofactor interactions
Title: Hierarchical binding of cofactors to the AAA ATPase p97.
UBXD7 links p97 to the ubiquitin ligase CUL2/VHL and its substrate hypoxia-inducible factor 1alpha (HIF1alpha).
Title: UBXD7 binds multiple ubiquitin ligases and implicates p97 in HIF1alpha turnover.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

WIAF-2556 (e-PCR)
- UniSTS:90502

D3S4114 (e-PCR)
- UniSTS:10182

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin binding	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin binding	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin protein ligase binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of VCP-NPL4-UFD1 AAA ATPase complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: UBX domain-containing protein 7

Names: UBX domain containing 7

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_015562.2 → NP_056377.1 UBX domain-containing protein 7

See identical proteins and their annotated locations for NP_056377.1

Status: VALIDATED

Source sequence(s)

AB018337, AC069257, BC028986, BC047420, BG253663, DA119173

Consensus CDS

CCDS43191.1

UniProtKB/Swiss-Prot

D3DXB3, O94888, Q6ZP77, Q86X20, Q8N327

Related

ENSP00000296328.4, ENST00000296328.9

Conserved Domains (3) summary

cd02958
Location:149 → 261

UAS; UAS family; UAS is a domain of unknown function. Most members of this family are uncharacterized proteins with similarity to FAS-associated factor 1 (FAF1) and ETEA because of the presence of a UAS domain N-terminal to a ubiquitin-associated UBX domain. ...

cd14345
Location:16 → 51

UBA_UBXD7; UBA-like domain found in UBX domain-containing protein 7 (UBXD7) and similar proteins

cd01773
Location:412 → 487

UBX_UBXN7; Ubiquitin regulatory domain X (UBX) found in UBX domain protein 7 (UBXN7) and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

196347662..196432427 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011512671.3 → XP_011510973.1 UBX domain-containing protein 7 isoform X1

UniProtKB/TrEMBL

B4E126

Related

ENSP00000397256.1, ENST00000428095.1

Conserved Domains (2) summary

cd01773
Location:260 → 341

Faf1_like1_UBX; Faf1 ike-1 UBX domain

cd02958
Location:1 → 113

UAS; UAS family; UAS is a domain of unknown function. Most members of this family are uncharacterized proteins with similarity to FAS-associated factor 1 (FAF1) and ETEA because of the presence of a UAS domain N-terminal to a ubiquitin-associated UBX domain. ...