Description: Homo sapiens sel-1 suppressor of lin-12-like (C. elegans) (SEL1L), transcript variant 1, mRNA. RefSeq Summary (NM_005065): 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 manner. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. Transcript (Including UTRs) Position: hg19 chr14:81,937,891-82,000,205 Size: 62,315 Total Exon Count: 21 Strand: - Coding Region Position: hg19 chr14:81,943,316-82,000,088 Size: 56,773 Coding Exon Count: 21
ID:SE1L1_HUMAN DESCRIPTION: RecName: Full=Protein sel-1 homolog 1; AltName: Full=Suppressor of lin-12-like protein 1; Short=Sel-1L; Flags: Precursor; FUNCTION: May play a role in Notch signaling (By similarity). May be involved in the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins. SUBUNIT: Part of a complex containing SEL1L, SYVN1 and DERL2. May form a complex with ERLEC1, HSPA5, OS9, and SYVN1. Interacts with FOXRED2 and EDEM1. SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type I membrane protein. TISSUE SPECIFICITY: Highly expressed in pancreas. PTM: N-glycosylated. SIMILARITY: Belongs to the sel-1 family. SIMILARITY: Contains 1 fibronectin type-II domain. SIMILARITY: Contains 11 Sel1-like repeats. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/SEL1LID42246ch14q24.html";
To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): SEL1L CDC HuGE Published Literature: SEL1L Positive Disease Associations: Platelet Aggregation Related Studies:
Platelet Aggregation Qiong Yang et al. BMC medical genetics 2007, Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903294]
Using genome-wide association methodology, we have successfully identified a SNP in complete LD with a sequence variant previously shown to be strongly associated with factor VII, providing proof of principle for this approach. Further study of additional strongly associated SNPs and linked regions may identify novel variants that influence the inter-individual variability in hemostatic factors and hematological phenotypes.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9UBV2
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006641 triglyceride metabolic process GO:0007219 Notch signaling pathway GO:0009306 protein secretion GO:0030433 ER-associated ubiquitin-dependent protein catabolic process GO:0030970 retrograde protein transport, ER to cytosol GO:0034976 response to endoplasmic reticulum stress GO:0036503 ERAD pathway GO:0050821 protein stabilization GO:0055085 transmembrane transport GO:1904380 endoplasmic reticulum mannose trimming
AK075511 - Homo sapiens cDNA PSEC0209 fis, clone HEMBA1003280, highly similar to Sel-1 homolog precursor. AB020335 - Homo sapiens TSA305 mRNA, complete cds. LP895304 - Sequence 168 from Patent EP3253886. JD486160 - Sequence 467184 from Patent EP1572962. JD563485 - Sequence 544509 from Patent EP1572962. JD178010 - Sequence 159034 from Patent EP1572962. JD166758 - Sequence 147782 from Patent EP1572962. JD315491 - Sequence 296515 from Patent EP1572962. BC040498 - Homo sapiens sel-1 suppressor of lin-12-like (C. elegans), mRNA (cDNA clone IMAGE:5287167), partial cds. JD516119 - Sequence 497143 from Patent EP1572962. JD114524 - Sequence 95548 from Patent EP1572962. JD301836 - Sequence 282860 from Patent EP1572962. JD249362 - Sequence 230386 from Patent EP1572962. JD036491 - Sequence 17515 from Patent EP1572962. JD139617 - Sequence 120641 from Patent EP1572962. JD245472 - Sequence 226496 from Patent EP1572962. JD498993 - Sequence 480017 from Patent EP1572962. JD284998 - Sequence 266022 from Patent EP1572962. JD357335 - Sequence 338359 from Patent EP1572962. JD566726 - Sequence 547750 from Patent EP1572962. JD288701 - Sequence 269725 from Patent EP1572962. JD284355 - Sequence 265379 from Patent EP1572962. JD562735 - Sequence 543759 from Patent EP1572962. JD093309 - Sequence 74333 from Patent EP1572962. JD563438 - Sequence 544462 from Patent EP1572962. JD101603 - Sequence 82627 from Patent EP1572962. JD260137 - Sequence 241161 from Patent EP1572962. JD099332 - Sequence 80356 from Patent EP1572962. JD510469 - Sequence 491493 from Patent EP1572962. JD260848 - Sequence 241872 from Patent EP1572962. JD371033 - Sequence 352057 from Patent EP1572962. JD516546 - Sequence 497570 from Patent EP1572962. JD516336 - Sequence 497360 from Patent EP1572962. JD279302 - Sequence 260326 from Patent EP1572962. JD506717 - Sequence 487741 from Patent EP1572962. JD564726 - Sequence 545750 from Patent EP1572962. JD089866 - Sequence 70890 from Patent EP1572962. JD528361 - Sequence 509385 from Patent EP1572962. JD561816 - Sequence 542840 from Patent EP1572962. JD404274 - Sequence 385298 from Patent EP1572962. JD279425 - Sequence 260449 from Patent EP1572962. JD503918 - Sequence 484942 from Patent EP1572962. JD383311 - Sequence 364335 from Patent EP1572962. JD110984 - Sequence 92008 from Patent EP1572962. AF052059 - Homo sapiens SEL1L (SEL1L) mRNA, complete cds. JD085522 - Sequence 66546 from Patent EP1572962. JD291987 - Sequence 273011 from Patent EP1572962. JD349622 - Sequence 330646 from Patent EP1572962. JD435641 - Sequence 416665 from Patent EP1572962. BC054336 - Homo sapiens cDNA clone IMAGE:5528072, containing frame-shift errors. JD237652 - Sequence 218676 from Patent EP1572962. JD129996 - Sequence 111020 from Patent EP1572962. U11037 - Homo sapiens sel-1-like protein (SEL1L) mRNA, complete cds. JD426502 - Sequence 407526 from Patent EP1572962. JD509579 - Sequence 490603 from Patent EP1572962. JD225992 - Sequence 207016 from Patent EP1572962. JD345930 - Sequence 326954 from Patent EP1572962. BC172577 - Synthetic construct Homo sapiens clone IMAGE:100069271, MGC:199282 sel-1 suppressor of lin-12-like (C. elegans) (SEL1L) mRNA, encodes complete protein. BC172282 - Synthetic construct Homo sapiens clone IMAGE:100068976, MGC:198987 sel-1 suppressor of lin-12-like (C. elegans) (SEL1L) mRNA, encodes complete protein. AK130629 - Homo sapiens cDNA FLJ27119 fis, clone SPL06503. AY358651 - Homo sapiens clone DNA49820 SEL1L (UNQ128) mRNA, complete cds. JD394925 - Sequence 375949 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q9UBV2 (Reactome details) participates in the following event(s):
R-HSA-5362441 C-terminal Hh fragments are recruited to SEL1:SYVN1 at the ER membrane R-HSA-5387386 Hh processing variants are recruited to SEL1:SYVN at the ER membrane R-HSA-5362459 VCP-catalyzed ATP hydrolysis promotes the translocation of Hh-C into the cytosol R-HSA-5387389 Hh processing variants are translocated to the cytosol in a VCP-dependent manner R-HSA-8866551 CFTR binds components of the ERAD machinery for ubiquitination and degradation R-HSA-8866857 CFTR F508del binds components of the ERAD machinery for ubiquitination and degradation R-HSA-8866542 VCP-catalyzed ATP hydrolysis promotes the translocation of misfolded CFTR into the cytosol R-HSA-8866854 VCP-catalyzed ATP hydrolysis promotes the translocation of CFTR F508del into the cytosol R-HSA-5362412 SYVN1 ubiquitinates Hh C-terminal fragments R-HSA-5483238 Hh processing variants are ubiquitinated R-HSA-8866546 RNF5 and RNF185 ubiquitinate misfolded CFTR R-HSA-8866856 RNF5 and RNF185 ubiquitinate CFTR F508del R-HSA-8867288 OS9:SEL1:ERAD E3 ligase:DERL2 ubiquitinates unfolded protein:(GlcNAc)2 (Man)9-5 R-HSA-1022127 OS9:SEL1:ERAD E3 ligase:DERL2 transports Ub-unfolded protein:(GlcNAc)2 (Man)9-5 from ERQC to cytosol R-HSA-5358346 Hedgehog ligand biogenesis R-HSA-5362768 Hh mutants that don't undergo autocatalytic processing are degraded by ERAD R-HSA-382556 ABC-family proteins mediated transport R-HSA-5678895 Defective CFTR causes cystic fibrosis R-HSA-5358351 Signaling by Hedgehog R-HSA-5387390 Hh mutants abrogate ligand secretion R-HSA-382551 Transport of small molecules R-HSA-5619084 ABC transporter disorders R-HSA-901032 ER Quality Control Compartment (ERQC) R-HSA-162582 Signal Transduction R-HSA-5663202 Diseases of signal transduction R-HSA-5619115 Disorders of transmembrane transporters R-HSA-901042 Calnexin/calreticulin cycle R-HSA-1643685 Disease R-HSA-532668 N-glycan trimming in the ER and Calnexin/Calreticulin cycle R-HSA-446203 Asparagine N-linked glycosylation R-HSA-597592 Post-translational protein modification R-HSA-392499 Metabolism of proteins
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
