• Gene id: 6400

Gene Summary

• Gene Symbol: SEL1L   Gene   UCSC   Ensembl
• Aliases: Hrd3, PRO1063, SEL1-LIKE, SEL1L1
• Gene name: SEL1L adaptor subunit of ERAD E3 ubiquitin ligase
• Alternate names: protein sel-1 homolog 1, SEL1L, ERAD E3 ligase adaptor subunit, Suppressor of lin 12 (sel-1), C. elegans, homolog of, sel-1 suppressor of lin-12-like 1, suppressor of lin-12-like protein 1,
• Gene location: 14q31.1 (81533860: 81471546)     Exons: 21     NC_000014.9
• Gene summary(Entrez): The protein encoded by this gene is part of a protein complex required for the retrotranslocation or dislocation of misfolded proteins from the endoplasmic reticulum lumen to the cytosol, where they are degraded by the proteasome in a ubiquitin-dependent
• OMIM: 602329

Protein Summary

• Protein general information: Q9UBV2  
  • Name: Protein sel 1 homolog 1 (Suppressor of lin 12 like protein 1) (Sel 1L)
  • Length: 794  
  • Mass: 88755
  • Tissue specificity: Highly expressed in pancreas.
• Sequence:

  MRVRIGLTLLLCAVLLSLASASSDEEGSQDESLDSKTTLTSDESVKDHTTAGRVVAGQIFLDSEESELESSIQEE
  EDSLKSQEGESVTEDISFLESPNPENKDYEEPKKVRKPALTAIEGTAHGEPCHFPFLFLDKEYDECTSDGREDGR
  LWCATTYDYKADEKWGFCETEEEAAKRRQMQEAEMMYQTGMKILNGSNKKSQKREAYRYLQKAASMNHTKALERV
  SYALLFGDYLPQNIQAAREMFEKLTEEGSPKGQTALGFLYASGLGVNSSQAKALVYYTFGALGGNLIAHMVLGYR
  YWAGIGVLQSCESALTHYRLVANHVASDISLTGGSVVQRIRLPDEVENPGMNSGMLEEDLIQYYQFLAEKGDVQA
  QVGLGQLHLHGGRGVEQNHQRAFDYFNLAANAGNSHAMAFLGKMYSEGSDIVPQSNETALHYFKKAADMGNPVGQ
  SGLGMAYLYGRGVQVNYDLALKYFQKAAEQGWVDGQLQLGSMYYNGIGVKRDYKQALKYFNLASQGGHILAFYNL
  AQMHASGTGVMRSCHTAVELFKNVCERGRWSERLMTAYNSYKDGDYNAAVIQYLLLAEQGYEVAQSNAAFILDQR
  EASIVGENETYPRALLHWNRAASQGYTVARIKLGDYHFYGFGTDVDYETAFIHYRLASEQQHSAQAMFNLGYMHE
  KGLGIKQDIHLAKRFYDMAAEASPDAQVPVFLALCKLGVVYFLQYIRETNIRDMFTQLDMDQLLGPEWDLYLMTI
  IALLLGTVIAYRQRQHQDMPAPRPPGPRPAPPQQEGPPEQQPPQ

• Structural information:
  • Protein Domains: (122..17-)
    (/note="Fibronectin-type-II)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00479"-)
  • Interpro: IPR000562  IPR036943  IPR013806  IPR006597  IPR011990  
  • Prosite: PS00023 PS51092
  • CDD: cd00062
  • DIP: 46259
  • STRING: ENSP00000337053
• Other Databases: GeneCards:  SEL1L  Malacards:  SEL1L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000836	Hrd1p ubiquitin ligase complex	TAS	cellular component
GO:0000836	Hrd1p ubiquitin ligase complex	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0036513	Derlin-1 retrotranslocation complex	IDA	cellular component
GO:0036503	ERAD pathway	IMP	biological process
GO:0050821	protein stabilization	TAS	biological process
GO:0030433	ubiquitin-dependent ERAD pathway	TAS	biological process
GO:0030970	retrograde protein transport, ER to cytosol	IMP	biological process
GO:0000839	Hrd1p ubiquitin ligase ERAD-L complex	IBA	cellular component
GO:0030433	ubiquitin-dependent ERAD pathway	IBA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0036503	ERAD pathway	IMP	biological process
GO:0000839	Hrd1p ubiquitin ligase ERAD-L complex	IMP	cellular component
GO:0036503	ERAD pathway	ISS	biological process
GO:0009306	protein secretion	ISS	biological process
GO:0006641	triglyceride metabolic process	ISS	biological process
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:0005783	endoplasmic reticulum	IEA	cellular component
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:1904380	endoplasmic reticulum mannose trimming	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0036503	ERAD pathway	IEA	biological process
GO:0034976	response to endoplasmic reticulum stress	IEA	biological process
GO:0009306	protein secretion	IEA	biological process
GO:0006641	triglyceride metabolic process	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum

Diseases

Associated diseases	References
pancreatic cancer	PMID:14508516
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)