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

    Gene ID: 55325, updated on 26-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. UFMylation of RPL26 links translocation-associated quality control to endoplasmic reticulum protein homeostasis. Wang L, et al. Cell Res, 2020 Jan. PMID 31595041, Free PMC Article
    2. A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy. Ni M, et al. Genet Med, 2021 May. PMID 33473208, Free PMC Article
    3. Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia. Watson CM, et al. S Afr Med J, 2015 Sep 21. PMID 26428751
    4. A novel approach to assess the ubiquitin-fold modifier 1-system in cells. Ishimura R, et al. FEBS Lett, 2017 Jan. PMID 27926783
    5. Dysregulation of PD-L1 by UFMylation imparts tumor immune evasion and identified as a potential therapeutic target. Zhou J, et al. Proc Natl Acad Sci U S A, 2023 Mar 14. PMID 36893266, Free PMC Article

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Associated conditions

    Description Tests
    Developmental and epileptic encephalopathy 106
    MedGen: C5774212 OMIM: 620028 GeneReviews: Not available
    		not available
    Hip dysplasia, Beukes type
    MedGen: C1840572 OMIM: 142669 GeneReviews: Not available
    		Compare labs
    Spondyloepimetaphyseal dysplasia, di rocco type
    MedGen: C4693799 OMIM: 617974 GeneReviews: Not available
    		Compare labs

    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

    Homology

    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 
    Process Evidence Code Pubs
    involved_in negative regulation of proteolysis involved in protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proteolysis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of intracellular estrogen receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of type II interferon production IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in rescue of stalled ribosome 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 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

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    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_018359.5 → NP_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:276 → 461
      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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NUQ7.3 GenPept UniProtKB/Swiss-Prot:Q9NUQ7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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