UBXN1 UBX domain protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: UBXN1provided by HGNC
Official Full Name: UBX domain protein 1provided by HGNC
Primary source: HGNC:HGNC:18402
See related: Ensembl:ENSG00000162191 MIM:616378; AllianceGenome:HGNC:18402
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: 2B28; SAKS1; UBXD10
Summary: Enables several functions, including enzyme binding activity; polyubiquitin modification-dependent protein binding activity; and proteasome regulatory particle binding activity. Involved in negative regulation of protein metabolic process. Located in cytosol; endoplasmic reticulum; and nucleoplasm. Part of VCP-NPL4-UFD1 AAA ATPase complex. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in ovary (RPKM 47.6), fat (RPKM 40.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q12.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (62676500..62679073, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (62665920..62668532, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (62443972..62446545, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SUB1 promotes colorectal cancer metastasis by activating NF-kappaB signaling via UBR5-mediated ubiquitination of UBXN1.
Title: SUB1 promotes colorectal cancer metastasis by activating NF-κB signaling via UBR5-mediated ubiquitination of UBXN1.
UBXN1 promotes liver tumorigenesis by regulating mitochondrial homeostasis.
Title: UBXN1 promotes liver tumorigenesis by regulating mitochondrial homeostasis.
YTHDF2 facilitates UBXN1 mRNA decay by recognizing METTL3-mediated m(6)A modification to activate NF-kappaB and promote the malignant progression of glioma.
Title: YTHDF2 facilitates UBXN1 mRNA decay by recognizing METTL3-mediated m(6)A modification to activate NF-κB and promote the malignant progression of glioma.
LncRNA PRADX-mediated recruitment of PRC2/DDX5 complex suppresses UBXN1 expression and activates NF-kappaB activity, promoting tumorigenesis.
Title: LncRNA PRADX-mediated recruitment of PRC2/DDX5 complex suppresses UBXN1 expression and activates NF-κB activity, promoting tumorigenesis.
Our results identify how VCP is specifically targeted to ubiquitylated substrates in the BAG6 triage pathway and suggest that the degradation of ubiquitylated clients by the proteasome is reliant on the association of UBXN1 with ubiquitylated substrates and the catalytic activity of VCP.
Title: The VCP-UBXN1 Complex Mediates Triage of Ubiquitylated Cytosolic Proteins Bound to the BAG6 Complex.
The ability of UBXN1 and other family members to negatively regulate the NFkappaB pathway may be important for dampening the host immune response in disease processes and also re-activating quiescent HIV from latent viral reservoirs in chronically infected individuals
Title: Multiple UBXN family members inhibit retrovirus and lentivirus production and canonical NFκΒ signaling by stabilizing IκBα.
p47 promotes, whereas SASK1 delays the degradation of a single ERAD substrate, alpha-TCR. Additionally, we found that SAKS1 selectively inhibits the degradation of ERAD substrates without affecting cytosolic proteasomal substrates.
Title: The opposite role of two UBA-UBX containing proteins, p47 and SAKS1 in the degradation of a single ERAD substrate, α-TCR.
UBXN1 is a negative regulator of NF-kappaB signaling.
Title: Ubiquitin-associated domain-containing ubiquitin regulatory X (UBX) protein UBXN1 is a negative regulator of nuclear factor κB (NF-κB) signaling.
UBXN1 is induced and recruited to MAVS after virus infection, serving as a brake to prevent excessive RLR signaling, most likely at a late stage of infection.
Title: UBXN1 interferes with Rig-I-like receptor-mediated antiviral immune response by targeting MAVS.
SAKS1 inhibits protein degradation mediated by p97 complexes in the cytosol with a component of the mechanism being the ability to shield polyubiquitin chains from ubiquitin-processing factors.
Title: The UBX protein SAKS1 negatively regulates endoplasmic reticulum-associated degradation and p97-dependent degradation.

Submit: New GeneRIF Correction See all GeneRIFs (12)

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

Variation

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See variants in ClinVar

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

RH125269 (e-PCR)
- UniSTS:162091

RH79660 (e-PCR)
- UniSTS:84054

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables K48-linked polyubiquitin modification-dependent protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables K48-linked polyubiquitin modification-dependent protein binding	IDA Inferred from Direct Assay more info	PubMed
enables K6-linked polyubiquitin modification-dependent protein binding	IDA Inferred from Direct Assay more info	PubMed
enables polyubiquitin modification-dependent protein binding	IDA Inferred from Direct Assay more info	PubMed
enables proteasome regulatory particle binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
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 negative regulation of ERAD pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein K48-linked deubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of protein K48-linked deubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of ubiquitin-specific protease activity	IDA Inferred from Direct Assay more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of VCP-NPL4-UFD1 AAA ATPase complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	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
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement 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 1

Names: SAPK substrate protein 1; UBA/UBX 33.3 kDa protein

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_001286077.2 → NP_001273006.1 UBX domain-containing protein 1 isoform 2

See identical proteins and their annotated locations for NP_001273006.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains an alternate exon structure in the 3' region, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.

Source sequence(s)

BC040129

Consensus CDS

CCDS66105.1

UniProtKB/Swiss-Prot

Q04323, Q9BV93, Q9BVV5

UniProtKB/TrEMBL

E9PJ81

Related

ENSP00000303991.5, ENST00000301935.10

Conserved Domains (2) summary

cd01772
Location:210 → 293

SAKS1_UBX; SAKS1-like UBX domain

cd14302
Location:5 → 45

UBA_UBXN1; UBA domain found in UBX domain-containing protein 1 (UBXN1) and similar proteins
NM_001286078.2 → NP_001273007.1 UBX domain-containing protein 1 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks two alternate in-frame exons in the 5' region and contains an alternate exon structure in the 3' region, compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1.

Source sequence(s)

BC040129, BI855821, BP329601

Consensus CDS

CCDS73307.1

UniProtKB/TrEMBL

A0A087WTZ5, B4E0P8

Related

ENSP00000478250.1, ENST00000616865.4

Conserved Domains (2) summary

cd01772
Location:151 → 234

SAKS1_UBX; SAKS1-like UBX domain

cd14302
Location:5 → 41

UBA_UBXN1; UBA domain found in UBX domain-containing protein 1 (UBXN1) and similar proteins
NM_015853.5 → NP_056937.2 UBX domain-containing protein 1 isoform 1

See identical proteins and their annotated locations for NP_056937.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

BC001372, BP329601

Consensus CDS

CCDS8029.1

UniProtKB/TrEMBL

E9PJ81

Related

ENSP00000294119.2, ENST00000294119.6

Conserved Domains (2) summary

cd14302
Location:5 → 45

UBA_UBXN1; UBA domain found in UBX domain-containing protein 1 (UBXN1) and similar proteins

cl00155
Location:210 → 283

UBQ; Ubiquitin-like 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_000011.10 Reference GRCh38.p14 Primary Assembly

Range

62676500..62679073 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017017874.2 → XP_016873363.1 UBX domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

Q04323, Q9BV93, Q9BVV5

UniProtKB/TrEMBL

E9PJ81

Related

ENSP00000435625.1, ENST00000534176.1

Conserved Domains (2) summary

cd01772
Location:210 → 293

SAKS1_UBX; SAKS1-like UBX domain

cd14302
Location:5 → 45

UBA_UBXN1; UBA domain found in UBX domain-containing protein 1 (UBXN1) and similar proteins