UBL3 ubiquitin like 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: UBL3provided by HGNC
Official Full Name: ubiquitin like 3provided by HGNC
Primary source: HGNC:HGNC:12504
See related: Ensembl:ENSG00000122042 MIM:604711
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: HCG-1; PNSC1
Expression: Ubiquitous expression in brain (RPKM 38.2), stomach (RPKM 32.6) and 25 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 13q12.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
109.20200522	current	GRCh38.p13 (GCF_000001405.39)	13	NC_000013.11 (29764371..29850617, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (30338545..30424820, complement)

Chromosome 13 - NC_000013.11 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?

We have identified three novel loci (PDE7B, UBL3, and a new independent marker in CDKN2B-AS1) associated with BRCAX, and replicated previously reported SNPs (24 of 92) and moderate/high-penetrance (seven of 23) genes for Korean BRCAX. For the novel candidate loci, evidence supported their roles in regulatory function
Title: BRCA1/2-negative, high-risk breast cancers (BRCAX) for Asian women: genetic susceptibility loci and their potential impacts.
posttranslational modification factor that regulates protein sorting to small extracellular vesicles
Title: UBL3 modification influences protein sorting to small extracellular vesicles.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction

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

NHGRI GWAS Catalog

Description
A genome-wide association study for reading and language abilities in two population cohorts. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2. NHGRI GWA Catalog NHGRI GWA 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

D13S830E (e-PCR)
- UniSTS:39176

D13S1133 (e-PCR)
- UniSTS:153673

A008Y32 (e-PCR)
- UniSTS:21323

D13S1214E (e-PCR)
- UniSTS:153945

STS-R68992 (e-PCR)
- UniSTS:62563

SHGC-2665 (e-PCR)
- UniSTS:37810

WI-16690 (e-PCR)
- UniSTS:71910

RH80533 (e-PCR)
- UniSTS:89593

Homology

Homologs of the UBL3 gene: The UBL3 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, and frog.
Orthologs from Annotation Pipeline: 319 organisms have orthologs with human gene UBL3
Orthologs

Gene Ontology Provided by GOA

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

Component	Evidence Code	Pubs
extracellular exosome	HDA more info	PubMed
intracellular	IDA Inferred from Direct Assay more info
plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ubiquitin-like protein 3

Names: MUB; hsMUB; membrane-anchored ubiquitin-fold protein; protein HCG-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.