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

Gene ID: 402682, updated on 1-Aug-2020

Summary

Official Symbol
UFSP1provided by HGNC
Official Full Name
UFM1 specific peptidase 1 (inactive)provided by HGNC
Primary source
HGNC:HGNC:33821
See related
Ensembl:ENSG00000176125 MIM:611481
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

Genomic context

See UFSP1 in Genome Data Viewer
Location:
7q22.1
Exon count:
1
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (100888721..100889715, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (100486344..100487339, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene microRNA 6875 Neighboring gene thyroid hormone receptor interactor 6 Neighboring gene serrate, RNA effector molecule Neighboring gene acetylcholinesterase (Cartwright blood group) Neighboring gene RNA, 7SL, cytoplasmic 549, pseudogene

Genomic regions, transcripts, and products

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 

General protein information

Preferred Names
inactive Ufm1-specific protease 1
Names
UFM1-specific peptidase 1 (non-functional)

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_001015072.4NP_001015072.2  inactive Ufm1-specific protease 1

    See identical proteins and their annotated locations for NP_001015072.2

    Status: VALIDATED

    Source sequence(s)
    AC011895, BC017456, BC067904, DB073745
    Consensus CDS
    CCDS34710.1
    UniProtKB/Swiss-Prot
    Q6NVU6
    Related
    ENSP00000373413.2, ENST00000388761.4
    Conserved Domains (1) summary
    pfam07910
    Location:1128
    Peptidase_C78; Peptidase family C78

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    100888721..100889715 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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