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

Gene ID: 55325, updated on 27-Nov-2024

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; AllianceGenome:HGNC:25640
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; DEE106; 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
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Genomic context

See UFSP2 in Genome Data Viewer
Location:
4q35.1
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (185399537..185425964, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (188742869..188769306, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (186320691..186347118, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene sorting nexin 25 Neighboring gene uncharacterized LOC124900827 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15853 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22258 Neighboring gene LRP2 binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15854 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22259 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15855 Neighboring gene ankyrin repeat domain 37 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22261 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22260 Neighboring gene cilia and flagella associated protein 96 Neighboring gene Sharpr-MPRA regulatory region 8879 Neighboring gene coiled-coil domain containing 110 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15856 Neighboring gene uncharacterized LOC105377590 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:186401399-186401900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:186423455-186423954 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:186434842-186436041 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

Clone Names

  • FLJ11200

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables deUFMylase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables deUFMylase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables deUFMylase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in 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)

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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.

Genomic

  1. NG_051609.2 RefSeqGene

    Range
    5000..31427
    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
    Q6IA77, Q96FS3, Q9NUQ7
    Related
    ENSP00000264689.6, ENST00000264689.11
    Conserved Domains (1) summary
    pfam07910
    Location:276461
    Peptidase_C78; Peptidase family C78

RNA

  1. NR_028085.2 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
    Related
    ENST00000514247.5
  2. NR_144317.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC106897

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    185399537..185425964 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    188742869..188769306 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)