• Gene id: 90268

Gene Summary

• Gene Symbol: OTULIN   Gene   UCSC   Ensembl
• Aliases: AIPDS, FAM105B, GUM
• Gene name: OTU deubiquitinase with linear linkage specificity
• Alternate names: ubiquitin thioesterase otulin, OTU domain-containing deubiquitinase with linear linkage specificity, deubiquitinating enzyme otulin, family with sequence similarity 105, member B, ubiquitin thioesterase Gumby,
• Gene location: 5p15.2 (14660793: 14716551)     Exons: 9     NC_000005.10
• Gene summary(Entrez): This gene encodes a member of the peptidase C65 family of ubiquitin isopeptidases. Members of this family remove ubiquitin from proteins. The encoded enzyme specifically recognizes and removes M1(Met1)-linked, or linear, ubiquitin chains from protein subs
• OMIM: 615712

Protein Summary

• Protein general information: Q96BN8  
  • Name: Ubiquitin thioesterase otulin (EC 3.4.19.12) (Deubiquitinating enzyme otulin) (OTU domain containing deubiquitinase with linear linkage specificity) (Ubiquitin thioesterase Gumby)
  • Length: 352  
  • Mass: 40263
• Sequence:

  MSRGTMPQPEAWPGASCAETPAREAAATARDGGKAAASGQPRPEMQCPAEHEEDMYRAADEIEKEKELLIHERGA
  SEPRLSVAPEMDIMDYCKKEWRGNTQKATCMKMGYEEVSQKFTSIRRVRGDNYCALRATLFQAMSQAVGLPPWLQ
  DPELMLLPEKLISKYNWIKQWKLGLKFDGKNEDLVDKIKESLTLLRKKWAGLAEMRTAEARQIACDELFTNEAEE
  YSLYEAVKFLMLNRAIELYNDKEKGKEVPFFSVLLFARDTSNDPGQLLRNHLNQVGHTGGLEQVEMFLLAYAVRH
  TIQVYRLSKYNTEEFITVYPTDPPKDWPVVTLIAEDDRHYNIPVRVCEETSL

• Structural information:
  • Protein Domains: (118..34-)
    (/note="OTU-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00139"-)
  • Interpro: IPR023235  IPR023237  
  • PDB: 3ZNV 3ZNX 3ZNZ 4KSJ 4KSK 4KSL 4OYK 4P0B 5OE7 6I9C 6SAK
  • PDBsum: 3ZNV 3ZNX 3ZNZ 4KSJ 4KSK 4KSL 4OYK 4P0B 5OE7 6I9C 6SAK
  • STRING: ENSP00000284274
• Other Databases: GeneCards:  OTULIN  Malacards:  OTULIN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045087	innate immune response	IBA	biological process
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IBA	molecular function
GO:1990108	protein linear deubiquitination	IBA	biological process
GO:0071797	LUBAC complex	IBA	colocalizes with
GO:0050728	negative regulation of inflammatory response	IBA	biological process
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IBA	biological process
GO:0010803	regulation of tumor necrosis factor-mediated signaling pathway	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0045087	innate immune response	IDA	biological process
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IDA	biological process
GO:1990108	protein linear deubiquitination	IDA	biological process
GO:1990108	protein linear deubiquitination	IDA	biological process
GO:1990108	protein linear deubiquitination	IDA	biological process
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IDA	biological process
GO:1990108	protein linear deubiquitination	IDA	biological process
GO:0010803	regulation of tumor necrosis factor-mediated signaling pathway	IDA	biological process
GO:1990108	protein linear deubiquitination	IDA	biological process
GO:1990108	protein linear deubiquitination	IDA	biological process
GO:1990108	protein linear deubiquitination	IDA	biological process
GO:1990108	protein linear deubiquitination	IDA	biological process
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0045087	innate immune response	IMP	biological process
GO:0002040	sprouting angiogenesis	ISS	biological process
GO:0050728	negative regulation of inflammatory response	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0050728	negative regulation of inflammatory response	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0050728	negative regulation of inflammatory response	ISS	biological process
GO:0070431	nucleotide-binding oligomerization domain containing 2 signaling pathway	IMP	biological process
GO:0060828	regulation of canonical Wnt signaling pathway	ISS	biological process
GO:0050728	negative regulation of inflammatory response	IMP	biological process
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IMP	biological process
GO:0008234	cysteine-type peptidase activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IEA	molecular function
GO:1990108	protein linear deubiquitination	IEA	biological process
GO:0001525	angiogenesis	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0010803	regulation of tumor necrosis factor-mediated signaling pathway	TAS	biological process
GO:0016567	protein ubiquitination	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1990108	protein linear deubiquitination	IEA	biological process
GO:0071797	LUBAC complex	IEA	cellular component
GO:0060828	regulation of canonical Wnt signaling pathway	IEA	biological process
GO:0050728	negative regulation of inflammatory response	IEA	biological process
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IEA	biological process
GO:0010803	regulation of tumor necrosis factor-mediated signaling pathway	IEA	biological process
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IEA	molecular function
GO:0002040	sprouting angiogenesis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Autoinflammation, panniculitis, and dermatosis syndrome	KEGG:H02414
Autoinflammation, panniculitis, and dermatosis syndrome	KEGG:H02414
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)