U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 54491, updated on 5-Mar-2024

Summary

Go to the top of the page Help
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 cytoplasm. Is extrinsic component of endoplasmic reticulum membrane. Colocalizes with nuclear envelope. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in bone marrow (RPKM 12.7), colon (RPKM 9.2) and 21 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
5p15.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (14581792..14616180)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (14520844..14555231)
105.20220307 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. 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
  2. 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
  3. Large-scale concatenation cDNA sequencing. Yu W, et al. Genome Res, 1997 Apr. PMID 9110174, Free PMC Article
  4. A "double adaptor" method for improved shotgun library construction. Andersson B, et al. Anal Biochem, 1996 Apr 5. PMID 8619474
  5. LMBR1L regulates lymphopoiesis through Wnt/β-catenin signaling. Choi JH, et al. Science, 2019 May 10. PMID 31073040, Free PMC Article

See all (18) 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

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
Preferred Names
inactive ubiquitin thioesterase OTULINL
Names
family with sequence similarity 105 member A
inactive ubiquitin thioesterase FAM105A
protein FAM105A

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_2023_10

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

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous