UFSP1 UFM1 specific peptidase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: UFSP1provided by HGNC
Official Full Name: UFM1 specific peptidase 1provided by HGNC
Primary source: HGNC:HGNC:33821
See related: Ensembl:ENSG00000176125 MIM:611481; AllianceGenome:HGNC:33821
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: UFSP
Summary: This gene encodes a protein that is similar to other Ufm1-specific proteases. Studies in mouse determined that Ufsp1 releases Ufm1 (ubiquitin-fold modifier 1) from its bound conjugated complexes which also makes it into an active form. Because the human UFSP1 protein is shorter on the N-terminus and lacks a conserved Cys active site, it is predicted to be non-functional.[provided by RefSeq, Nov 2009]
Orthologs: mouse all
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Genomic context

Location:: 7q22.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (100888721..100889715, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (102128823..102129817, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (100486342..100487336, complement)

Chromosome 7 - NC_000007.14 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?

Human UFSP1 is an active protease that regulates UFM1 maturation and UFMylation.
Title: Human UFSP1 is an active protease that regulates UFM1 maturation and UFMylation.
Human UFSP1 translated from an upstream near-cognate initiation codon functions as an active UFM1-specific protease.
Title: Human UFSP1 translated from an upstream near-cognate initiation codon functions as an active UFM1-specific protease.
Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genome-wide association analysis identifies multiple loci related to resting heart rate.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association analysis identifies multiple loci related to resting heart rate. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation. 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

RH17909 (e-PCR)
- UniSTS:9694

STS-M55040 (e-PCR)
- UniSTS:51680

GDB:4585547 (e-PCR)
- UniSTS:78827

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cysteine-type peptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables deUFMylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables deUFMylase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in protein maturation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ufmylation	IDA Inferred from Direct Assay more info	PubMed
involved_in proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytosol	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ufm1-specific protease 1

Names: UFM1 specific peptidase 1 (inactive); inactive Ufm1-specific protease 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.