UNC50 unc-50 inner nuclear membrane RNA binding protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: UNC50provided by HGNC
Official Full Name: unc-50 inner nuclear membrane RNA binding proteinprovided by HGNC
Primary source: HGNC:HGNC:16046
See related: Ensembl:ENSG00000115446 MIM:617826; AllianceGenome:HGNC:16046
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: URP; GMH1; UNCL; HSD23; PDLs22
Summary: Predicted to enable RNA binding activity. Predicted to be involved in protein localization to cell surface. Predicted to be located in nuclear inner membrane. Predicted to be active in Golgi membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in thyroid (RPKM 28.7), testis (RPKM 24.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q11.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (98608589..98618515)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (99066916..99076837)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (99225052..99234978)

Chromosome 2 - NC_000002.12 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
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?

Data indicate that biallelic mutation in the UNC50 gene underlies AMC through a probable loss of AChR expression at the neuromuscular junction which is essential for the cholinergic transmission during human muscle development.
Title: Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposis.
depletion of UNC50 blocked early endosome-to-Golgi trafficking and induced lysosomal degradation of STx2. UNC50 acted by recruiting GBF1, an ADP ribosylation factor-guanine nucleotide exchange factor (ARF-GEF), to the Golgi.
Title: Genome-wide siRNA screen identifies UNC50 as a regulator of Shiga toxin 2 trafficking.
UNC50 may plays some roles in HCC progression by affecting the EGFR pathway
Title: UNC50 prompts G1/S transition and proliferation in HCC by regulation of epidermal growth factor receptor trafficking.
UNCL plays important roles in the development, differentiation, and maintenance of periodontal tissues and in the mechanotransduction of periodontal ligament fibroblasts.
Title: Expression of UNCL during development of periodontal tissue and response of periodontal ligament fibroblasts to mechanical stress in vivo and in vitro.

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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

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

MARC_7289-7290:992008307:1 (e-PCR)
- UniSTS:231312

MARC_7289-7290:996687734:1 (e-PCR)
- UniSTS:231312

A004H48 (e-PCR)
- UniSTS:24757

D2S1730E (e-PCR)
- UniSTS:150759

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in protein localization to cell surface	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in Golgi membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear inner membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: protein unc-50 homolog

Names: geal-6 membrane-associated high-copy suppressor 1; periodontal ligament-specific protein 22; protein GMH1 homolog; unc-50 related; unc-50-like protein; uncoordinated-like 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.