UFC1 ubiquitin-fold modifier conjugating enzyme 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: UFC1provided by HGNC
Official Full Name: ubiquitin-fold modifier conjugating enzyme 1provided by HGNC
Primary source: HGNC:HGNC:26941
See related: Ensembl:ENSG00000143222 MIM:610554; AllianceGenome:HGNC:26941
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: NEDSG; HSPC155
Summary: UFC1 is an E2-like conjugating enzyme for ubiquitin-fold modifier-1 (UFM1; MIM 610553) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Mar 2008]
Expression: Ubiquitous expression in urinary bladder (RPKM 37.2), ovary (RPKM 36.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q23.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (161153978..161158856)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (160270029..160296313)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (161123768..161128646)

Chromosome 1 - NC_000001.11 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: 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?

Dynamical Analysis of a Boolean Network Model of the Oncogene Role of lncRNA ANRIL and lncRNA UFC1 in Non-Small Cell Lung Cancer.
Title: Dynamical Analysis of a Boolean Network Model of the Oncogene Role of lncRNA ANRIL and lncRNA UFC1 in Non-Small Cell Lung Cancer.
Structural basis for UFM1 transfer from UBA5 to UFC1.
Title: Structural basis for UFM1 transfer from UBA5 to UFC1.
A Concerted Action of UBA5 C-Terminal Unstructured Regions Is Important for Transfer of Activated UFM1 to UFC1.
Title: A Concerted Action of UBA5 C-Terminal Unstructured Regions Is Important for Transfer of Activated UFM1 to UFC1.
Exosome-transmitted lncRNA UFC1 promotes non-small-cell lung cancer progression by EZH2-mediated epigenetic silencing of PTEN expression.
Title: Exosome-transmitted lncRNA UFC1 promotes non-small-cell lung cancer progression by EZH2-mediated epigenetic silencing of PTEN expression.
UFC1 has a promoting role in GC progression, at least in part, by acting as a miR-498 sponge and derepressing Lin28b expression, which would provide a novel biomarker for GC diagnosis and prognosis and offer a potential target for GC therapy.
Title: Long non-coding RNA UFC1 promotes gastric cancer progression by regulating miR-498/Lin28b.
that UFC1 regulates survival of Osteoarthritis chondrocytes through physically association with miR-34a
Title: Long Noncoding RNA UFC1 Promotes Proliferation of Chondrocyte in Osteoarthritis by Acting as a Sponge for miR-34a.
Autoantibodies binding to Ufc1 were found in 19 of 29 patients (66%) with active mycobacterial infections.
Title: Autoantibodies binding to ubiquitin-fold modifier-conjugating enzyme 1 (Ufc1) and pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (Plekhg2) are associated with mycobacterial infections.
Uba5 residues 364-404 were demonstrated to be necessary for the transthiolation of Ufm1 to Ufc1, and Uba5 381-404 was identified to be the minimal region for Ufc1 recognition
Title: Characterization, crystallization and preliminary X-ray crystallographic analysis of the human Uba5 C-terminus-Ufc1 complex.
UFC1 interact with the mRNA stabilizing protein HuR to increase levels of beta-catenin in hepatocellular carcinoma.
Title: The long intergenic noncoding RNA UFC1, a target of MicroRNA 34a, interacts with the mRNA stabilizing protein HuR to increase levels of β-catenin in HCC cells.
NCAM140 interacts with ufc1 and its trafficking and endocytosis is upregulated in the presense of Ufm1.
Title: Cytoplasmic domain of NCAM140 interacts with ubiquitin-fold modifier-conjugating enzyme-1 (Ufc1).

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

Associated conditions

Description	Tests
Neurodevelopmental disorder with spasticity and poor growth MedGen: C4748081 OMIM: 618076 GeneReviews: Not available	not available

Variation

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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

G19947 (e-PCR)
- UniSTS:62811

A002D06 (e-PCR)
- UniSTS:62812

RH75 (e-PCR)
- UniSTS:88200

D1S3338 (e-PCR)
- UniSTS:63380

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables UFM1 conjugating enzyme activity	IDA Inferred from Direct Assay more info	PubMed
enables UFM1 conjugating enzyme activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables UFM1 transferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in brain development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein K69-linked ufmylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ufmylation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within protein ufmylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein ufmylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of type II interferon production	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to endoplasmic reticulum stress	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within response to endoplasmic reticulum stress	IDA Inferred from Direct Assay more info	PubMed
involved_in response to endoplasmic reticulum stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in reticulophagy	IBA Inferred from Biological aspect of Ancestor more info
involved_in reticulophagy	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed

General protein information

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Preferred Names: ubiquitin-fold modifier-conjugating enzyme 1

Names: Ufm1-conjugating enzyme 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.