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UFSP2 UFM1 specific peptidase 2 [ Homo sapiens (human) ]

Gene ID: 55325, updated on 21-Dec-2019

Summary

Official Symbol
UFSP2provided by HGNC
Official Full Name
UFM1 specific peptidase 2provided by HGNC
Primary source
HGNC:HGNC:25640
See related
Ensembl:ENSG00000109775 MIM:611482
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BHD; SEMDDR; C4orf20
Summary
This gene encodes a highly conserved cysteine protease. The protein cleaves two C-terminal residues from ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein. Activation of ubiquitin-fold modifier 1 by the encoded protein exposes a C-terminal glycine residue that allows interaction with other proteins and transfer to its target protein. An allelic variant of this gene has been associated with Beukes hip dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Expression
Ubiquitous expression in testis (RPKM 18.7), thyroid (RPKM 17.7) and 25 other tissues See more
Orthologs

Genomic context

See UFSP2 in Genome Data Viewer
Location:
4q35.1
Exon count:
12
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (185399537..185425985, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (186320691..186347139, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene cilia and flagella associated protein 97 Neighboring gene sorting nexin 25 Neighboring gene uncharacterized LOC107986206 Neighboring gene LRP2 binding protein Neighboring gene ankyrin repeat domain 37 Neighboring gene chromosome 4 open reading frame 47 Neighboring gene coiled-coil domain containing 110 Neighboring gene uncharacterized LOC105377590 Neighboring gene PDZ and LIM domain 3

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11200

Gene Ontology Provided by GOA

Function Evidence Code Pubs
UFM1 hydrolase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
thiolester hydrolase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
proteolysis IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of intracellular estrogen receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
ufm1-specific protease 2
NP_060829.2

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.

Genomic

  1. NG_051609.1 RefSeqGene

    Range
    5001..31446
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_018359.5NP_060829.2  ufm1-specific protease 2

    See identical proteins and their annotated locations for NP_060829.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.
    Source sequence(s)
    AC106897
    Consensus CDS
    CCDS3842.1
    UniProtKB/Swiss-Prot
    Q9NUQ7
    UniProtKB/TrEMBL
    B3KRI4
    Related
    ENSP00000264689.6, ENST00000264689.11
    Conserved Domains (1) summary
    pfam07910
    Location:276461
    Peptidase_C78; Peptidase family C78

RNA

  1. NR_028085.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC106897, AK091635, BC010493, BF735169, CA432183, DA537391
    Related
    ENST00000514247.5
  2. NR_144317.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC106897, HY046112

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    185399537..185425985 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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