UBTD1 ubiquitin domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: UBTD1provided by HGNC
Official Full Name: ubiquitin domain containing 1provided by HGNC
Primary source: HGNC:HGNC:25683
See related: Ensembl:ENSG00000165886 MIM:616388; AllianceGenome:HGNC:25683
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: The degradation of many proteins is carried out by the ubiquitin pathway in which proteins are targeted for degradation by covalent conjugation of the polypeptide ubiquitin. This gene encodes a protein that belongs to the ubiquitin family of proteins. The encoded protein is thought to regulate E2 ubiquitin conjugating enzymes belonging to the UBE2D family. [provided by RefSeq, Mar 2014]
Expression: Broad expression in testis (RPKM 17.5), lung (RPKM 11.7) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q24.1-q24.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (97498924..97571206)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (98379117..98451385)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (99258681..99330963)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

UBTD1 regulates ceramide balance and endolysosomal positioning to coordinate EGFR signaling.
Title: UBTD1 regulates ceramide balance and endolysosomal positioning to coordinate EGFR signaling.
CXCR4 mediates matrix stiffness-induced downregulation of UBTD1 driving hepatocellular carcinoma progression via YAP signaling pathway.
Title: CXCR4 mediates matrix stiffness-induced downregulation of UBTD1 driving hepatocellular carcinoma progression via YAP signaling pathway.
low levels of UBTD1 are associated with poor patient survival, suggesting that biological functions of UBTD1 could be beneficial in limiting cancer progression.
Title: UBTD1 is a mechano-regulator controlling cancer aggressiveness.
Establish UBTD1 as a regulator of cellular senescence that mediates p53 function, and provide insights into the mechanism of Mdm2 inhibition that impacts p53 dynamics during cellular senescence and tumourigenesis.
Title: UBTD1 induces cellular senescence through an UBTD1-Mdm2/p53 positive feedback loop.
Biochemical characterization of recombinant UBTD1 and UBE2D demonstrated that the two proteins form a stable, stoichiometric complex that can be purified to near homogeneity.
Title: The UbL protein UBTD1 stably interacts with the UBE2D family of E2 ubiquitin conjugating enzymes.

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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 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

RH99032 (e-PCR)
- UniSTS:89042

RH123720 (e-PCR)
- UniSTS:135924

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: ubiquitin domain-containing protein 1

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_024954.5 → NP_079230.1 ubiquitin domain-containing protein 1

See identical proteins and their annotated locations for NP_079230.1

Status: REVIEWED

Source sequence(s)

AL359388, BC007331, BM922594, CB306542

Consensus CDS

CCDS7465.1

UniProtKB/Swiss-Prot

D3DR57, Q53HI3, Q9HAC8

Related

ENSP00000359698.3, ENST00000370664.4

Conserved Domains (2) summary

cd17120
Location:151 → 219

Ubl_UBTD1; ubiquitin-like (Ubl) domain found in ubiquitin domain-containing protein 1 (UBTD1)

pfam16455
Location:27 → 126

UBD; Ubiquitin-binding domain