UBXN7 - UBX domain protein 7 Gene

Homo sapiens

Also known as UBXD7

Gene ID: 26043 | Gene type: protein coding

About UBXN7

Cytogenetic location: 3q29 Genomic coordinates (GRCh38): 3:196,347,662-196,432,427 (from NCBI)

This gene has 6 transcripts (splice variants), 174 orthologues and 4 paralogues. Ubiquitous expression in bone marrow (RPKM 8.3), testis (RPKM 7.0) and 25 other tissues.

Summary

Enables ubiquitin binding activity and ubiquitin protein Ligase binding activity. Located in nuclear body. Part of VCP-NPL4-UFD1 AAA ATPase complex. [provided by Alliance of Genome Resources, Apr 2022]

UBXN7 Products(1)

mRNA	Protein	Name
NM_015562.2	NP_056377.1	UBX domain-containing protein 7

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	18775313	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	18775313	GOA
enables ubiquitin binding	IDA IDA: Inferred from direct assay	18775313	GOA
enables ubiquitin protein ligase binding	IDA IDA: Inferred from direct assay	18775313	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of VCP-NPL4-UFD1 AAA ATPase complex	IDA IDA: Inferred from direct assay	18775313	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

UBXN7 Protein Structure

UBA_4

Thioredoxin_7

UBX

0
100
200
300
400
489 a.a.

Protein Preferred Names

Protein Names

UBX domain-containing protein 7

UBX domain containing 7

Related Diseases

Diseases

Alias

Immunodeficiency 46

Tfrc-Related Combined Immunodeficiency	IMD46
Cid Due To Tfrc Deficiency	Combined Immunodeficiency Due To Tfrc Deficiency

Chromosome 3q29 Deletion Syndrome

Chromosome 3q29 Microdeletion Syndrome	3q29 Microdeletion Syndrome
3q Subtelomere Deletion Syndrome	3q29 Recurrent Deletion
3qter Deletion	3q29 Deletion Syndrome
Monosomy 3q29	Microdeletion 3q29 Syndrome
Del(3)(Q29)	Monosomy 3qter
3q29 Deletion	Del3q29

Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia

Ibmpfd	Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia
Pagetoid Amyotrophic Lateral Sclerosis	Pagetoid Neuroskeletal Syndrome
Inclusion Body Myopathy With Paget Disease Of Bone And/Or Frontotemporal Dementia	Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone And/Or Frontotemporal Dementia
Multisystem Proteinopathy	Limb-Girdle Muscular Dystrophy With Paget Disease Of Bone
Inclusion Body Myopathy With Paget'S Disease Of Bone And Frontotemporal Dementia	Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dement
Lower Motor Neuron Degeneration With Paget-Like Bone Disease	Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone
Myopathy, Inclusion Body, With Early-Onset Paget Disease And Frontotemporal Dementia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15399	UBXN7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	UBXN7	VGNC	VGNC:36629
Rattus norvegicus	UBXN7	RGD	RGD:1306346
Macaca mulatta	UBXN7	VGNC	VGNC:79778
Canis familiaris	UBXN7	VGNC	VGNC:48102
Felis catus	UBXN7	VGNC	VGNC:102862
Mus musculus	UBXN7	MGD	MGI:2146388

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