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    OTULINL OTU deubiquitinase with linear linkage specificity like [ Homo sapiens (human) ]

    Gene ID: 54491, updated on 10-Dec-2024

    Summary

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    Official Symbol
    OTULINLprovided by HGNC
    Official Full Name
    OTU deubiquitinase with linear linkage specificity likeprovided by HGNC
    Primary source
    HGNC:HGNC:25629
    See related
    Ensembl:ENSG00000145569 AllianceGenome:HGNC:25629
    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
    NET20; FAM105A
    Summary
    Located in cytoplasmic side of endoplasmic reticulum membrane and nuclear envelope. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in bone marrow (RPKM 12.7), colon (RPKM 9.2) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See OTULINL in Genome Data Viewer
    Location:
    5p15.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (14581792..14616180)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (14520844..14555231)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (14581901..14616289)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene trio Rho guanine nucleotide exchange factor Neighboring gene uncharacterized LOC124900943 Neighboring gene OCT4 hESC enhancer GRCh37_chr5:14346974-14347475 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:14358109-14358798 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:14399912-14401111 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:14406263-14407462 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:14417547-14418093 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:14445485-14446012 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:14446013-14446539 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22401 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22402 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22403 Neighboring gene Sharpr-MPRA regulatory region 14564 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:14465686-14465857 Neighboring gene small nucleolar RNA, C/D box 170 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:14497716-14498915 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:14521506-14522006 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:14522007-14522507 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:14577633-14578133 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15941 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15942 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22404 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22405 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22406 Neighboring gene pleckstrin homology domain containing A1 pseudogene Neighboring gene chaperonin containing TCP1 subunit 6 pseudogene 2

    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. Disrupting of family with sequence similarity 105, member A (Fam105a) deteriorates pancreatic β-cell physiology and insulin secretion in INS-1 cells. Taneera J, et al. Mol Cell Endocrinol, 2023 Aug 20. PMID 37311518
    2. Ubiquitin-dependent and -independent functions of OTULIN in cell fate control and beyond. Weinelt N, et al. Cell Death Differ, 2021 Feb. PMID 33288901, Free PMC Article
    3. ESYT1 tethers the ER to mitochondria and is required for mitochondrial lipid and calcium homeostasis. Janer A, et al. Life Sci Alliance, 2024 Jan. PMID 37931956, Free PMC Article
    4. The RNA binding protein MEX3A promotes tumor progression of breast cancer by post-transcriptional regulation of IGFBP4. Chen W, et al. Breast Cancer Res Treat, 2023 Oct. PMID 37433992, Free PMC Article
    5. FAM105A/OTULINL Is a Pseudodeubiquitinase of the OTU-Class that Localizes to the ER Membrane. Ceccarelli DF, et al. Structure, 2019 Jun 4. PMID 31056421, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Disrupting of family with sequence similarity 105, member A (Fam105a) deteriorates pancreatic beta-cell physiology and insulin secretion in INS-1 cells.
      Title: Disrupting of family with sequence similarity 105, member A (Fam105a) deteriorates pancreatic β-cell physiology and insulin secretion in INS-1 cells.
    2. The crystal structure of FAM105A/OTULINL indicated that the OTU domain possesses structural deficiencies in both active site and substrate-binding infrastructure predicted to impair normal deubiquitinase (DUB) function.
      Title: FAM105A/OTULINL Is a Pseudodeubiquitinase of the OTU-Class that Localizes to the ER Membrane.
    Submit: New GeneRIF Correction

    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

    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

    Clone Names

    • FLJ11127, FLJ43660

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    NOT enables ubiquitin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT enables ubiquitin-like protein peptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    NOT involved_in protein deubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasmic side of endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    colocalizes_with nuclear envelope IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    inactive ubiquitin thioesterase OTULINL
    Names
    family with sequence similarity 105 member A
    inactive ubiquitin thioesterase FAM105A
    protein FAM105A

    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.

    mRNA and Protein(s)

    1. NM_019018.3 → NP_061891.1  inactive ubiquitin thioesterase OTULINL

      See identical proteins and their annotated locations for NP_061891.1

      Status: VALIDATED

      Source sequence(s)
      AC010627, AF052146, BC011524, BX342178
      Consensus CDS
      CCDS3884.1
      UniProtKB/Swiss-Prot
      Q53H50, Q9H037, Q9NUU6
      Related
      ENSP00000274217.3, ENST00000274217.4
      Conserved Domains (1) summary
      pfam16218
      Location:89 → 355
      Peptidase_C101; Peptidase family C101

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      14581792..14616180
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417322.1 → XP_047273278.1  inactive ubiquitin thioesterase OTULINL isoform X1

    2. XM_047417323.1 → XP_047273279.1  inactive ubiquitin thioesterase OTULINL isoform X1

    3. XM_047417324.1 → XP_047273280.1  inactive ubiquitin thioesterase OTULINL isoform X2

    RNA

    1. XR_925623.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      14520844..14555231
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352834.1 → XP_054208809.1  inactive ubiquitin thioesterase OTULINL isoform X1

    2. XM_054352835.1 → XP_054208810.1  inactive ubiquitin thioesterase OTULINL isoform X1

    3. XM_054352836.1 → XP_054208811.1  inactive ubiquitin thioesterase OTULINL isoform X2

    RNA

    1. XR_008487126.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NUU6.1 GenPept UniProtKB/Swiss-Prot:Q9NUU6

    Gene LinkOut

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