UFL1 UFM1 specific ligase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: UFL1provided by HGNC
Official Full Name: UFM1 specific ligase 1provided by HGNC
Primary source: HGNC:HGNC:23039
See related: Ensembl:ENSG00000014123 MIM:613372; AllianceGenome:HGNC:23039
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: NLBP; RCAD; Maxer; KIAA0776
Summary: Enables UFM1 ligase activity and protein kinase binding activity. Involved in several processes, including protein K69-linked ufmylation; regulation of intracellular signal transduction; and regulation of protein metabolic process. Acts upstream of or within several processes, including positive regulation of cell population proliferation; regulation of proteasomal ubiquitin-dependent protein catabolic process; and response to endoplasmic reticulum stress. Located in cytoplasm; nucleus; and site of double-strand break. Part of protein-containing complex. Is active in endoplasmic reticulum membrane and mitochondrial outer membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in thyroid (RPKM 19.4), prostate (RPKM 15.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q16.1

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (96521806..96555276)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (97693702..97727174)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (96969682..97003152)

Chromosome 6 - NC_000006.12 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?

UFL1 alleviates ER stress and apoptosis stimulated by LPS via blocking the ferroptosis pathway in human granulosa-like cells.
Title: UFL1 alleviates ER stress and apoptosis stimulated by LPS via blocking the ferroptosis pathway in human granulosa-like cells.
Ubiquitin-like modifier 1 ligating enzyme 1 relieves cisplatin-induced premature ovarian failure by reducing endoplasmic reticulum stress in granulosa cells.
Title: Ubiquitin-like modifier 1 ligating enzyme 1 relieves cisplatin-induced premature ovarian failure by reducing endoplasmic reticulum stress in granulosa cells.
Signaling from the RNA sensor RIG-I is regulated by ufmylation.
Title: Signaling from the RNA sensor RIG-I is regulated by ufmylation.
UFL1 attenuates IL-1beta-induced inflammatory response in human osteoarthritis chondrocytes.
Title: UFL1 attenuates IL-1β-induced inflammatory response in human osteoarthritis chondrocytes.
Study findings reveal that ufmylation of histone H4 by UFL1 is an important step for amplification of ATM activation and maintenance of genomic integrity.
Title: UFL1 promotes histone H4 ufmylation and ATM activation.
Overexpression of NLBP promotes the cell proliferation of lung adenocarcinoma through interacting with p120ctn.
Title: Overexpression of a novel regulator of p120 catenin, NLBP, promotes lung adenocarcinoma proliferation.
Results identify a novel molecule named multiple alpha-helix protein located at ER (Maxer) downregulated by mutant ataxin-1 (Atx1) in Bergmann glia.
Title: Suppression of the novel ER protein Maxer by mutant ataxin-1 in Bergman glia contributes to non-cell-autonomous toxicity.

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

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

RH98509 (e-PCR)
- UniSTS:90415

SHGC-36141 (e-PCR)
- UniSTS:60502

RH78851 (e-PCR)
- UniSTS:32106

RH70749 (e-PCR)
- UniSTS:33424

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables UFM1 ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables UFM1 ligase 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
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage checkpoint signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA damage response	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA repair	IEA Inferred from Electronic Annotation more info
involved_in erythrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in hematopoietic stem cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of IRE1-mediated unfolded protein response	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of NF-kappaB transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of T cell activation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of T cell mediated immune response to tumor cell	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in osteoblast differentiation	HDA more info	PubMed
involved_in positive regulation of autophagy	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of glial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of proteolysis involved in protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of reticulophagy	IDA Inferred from Direct Assay more info	PubMed
involved_in protein K69-linked ufmylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein stabilization	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 canonical NF-kappaB signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of intracellular estrogen receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in rescue of stalled ribosome	IDA Inferred from Direct Assay more info	PubMed
involved_in rescue of stalled ribosome	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to L-glutamate	IEA Inferred from Electronic Annotation 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	IDA Inferred from Direct Assay more info	PubMed
involved_in reticulophagy	IBA Inferred from Biological aspect of Ancestor more info
involved_in reticulophagy	IDA Inferred from Direct Assay more info	PubMed
involved_in ribosome disassembly	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
is_active_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
is_active_in mitochondrial outer membrane	IDA Inferred from Direct Assay more info	PubMed
located_in neuron projection	IEA Inferred from Electronic Annotation more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
located_in site of double-strand break	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: E3 UFM1-protein ligase 1

Names: E3 UFM1-protein transferase 1; LZAP-binding protein; Regulator of CDK5RAP3 and DDRGK1; multiple alpha-helix protein located at ER; novel LZAP-binding protein; regulator of C53/LZAP and DDRGK1

NP_056138.1

EC 2.3.2.-

EC 6.3.2.-

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.