Gene Gene information from NCBI Gene database.
Entrez ID 6400
Gene name SEL1L adaptor subunit of SYVN1 ubiquitin ligase
Gene symbol SEL1L
Synonyms (NCBI Gene)
Hrd3NEDGSAFNEDHGFAPRO1063SEL1-LIKESEL1L1
Chromosome 14
Chromosome location 14q31.1
Summary 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
miRNA miRNA information provided by mirtarbase database.
1170
miRTarBase ID miRNA Experiments Reference
MIRT005008 hsa-miR-125b-5p Microarray 17891175
MIRT018739 hsa-miR-335-5p Microarray 18185580
MIRT054478 hsa-miR-155-5p Luciferase reporter assayqRT-PCRWestern blot 23661430
MIRT529750 hsa-miR-548ac PAR-CLIP 22012620
MIRT529749 hsa-miR-548bb-3p PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0000836 Component Hrd1p ubiquitin ligase complex IDA 28827405
GO:0000836 Component Hrd1p ubiquitin ligase complex TAS 21454652, 23710284
GO:0000839 Component Hrd1p ubiquitin ligase ERAD-L complex IMP 26471130
GO:0005515 Function Protein binding IPI 18264092, 18502753, 18711132, 19135427, 19524542, 19706418, 22119785, 26471130, 26551274, 28514442, 28827405, 29496332, 31477895, 33961781, 35271311, 35384245, 37943610
GO:0005783 Component Endoplasmic reticulum IDA 26471130
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602329 10717 ENSG00000071537
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UBV2
Protein name Protein sel-1 homolog 1 (Suppressor of lin-12-like protein 1) (Sel-1L)
Protein function Plays a role in the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins (PubMed:16186509, PubMed:29997207, PubMe
PDB 8KES , 8KET , 8KEV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00040 fn2 127 168 Fibronectin type II domain Domain
PF08238 Sel1 183 218 Sel1 repeat Repeat
PF08238 Sel1 219 254 Sel1 repeat Repeat
PF08238 Sel1 373 409 Sel1 repeat Repeat
PF08238 Sel1 410 446 Sel1 repeat Repeat
PF08238 Sel1 447 482 Sel1 repeat Repeat
PF08238 Sel1 483 518 Sel1 repeat Repeat
PF08238 Sel1 627 662 Sel1 repeat Repeat
PF08238 Sel1 664 698 Sel1 repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Highly expressed in pancreas.
Sequence
MRVRIGLTLLLCAVLLSLASASSDEEGSQDESLDSKTTLTSDESVKDHTTAGRVVAGQIF
LDSEESELESSIQEEEDSLKSQEGESVTEDISFLESPNPENKDYEEPKKVRKPALTAIEG
TAHGEPCHFPFLFLDKEYDECTSDGREDGRLWCATTYDYKADEKWGFCETEEEAAKRRQM
QEAEMMYQTGMKILNGSNKKSQKREAYRYLQKAASMNHTKALERVSYALLFGDYLPQNIQ
AAREMFEKLTEEGS
PKGQTALGFLYASGLGVNSSQAKALVYYTFGALGGNLIAHMVLGYR
YWAGIGVLQSCESALTHYRLVANHVASDISLTGGSVVQRIRLPDEVENPGMNSGMLEEDL
IQYYQFLAEKGDVQAQVGLGQLHLHGGRGVEQNHQRAFDYFNLAANAGNSHAMAFLGKMY
SEGSDIVPQSNETALHYFKKAADMGN
PVGQSGLGMAYLYGRGVQVNYDLALKYFQKAAEQ
GW
VDGQLQLGSMYYNGIGVKRDYKQALKYFNLASQGGHILAFYNLAQMHASGTGVMRSCH
TAVELFKNVCERGRWSERLMTAYNSYKDGDYNAAVIQYLLLAEQGYEVAQSNAAFILDQR
EASIVGENETYPRALLHWNRAASQGYTVARIKLGDYHFYGFGTDVDYETAFIHYRLASEQ
QH
SAQAMFNLGYMHEKGLGIKQDIHLAKRFYDMAAEASPDAQVPVFLALCKLGVVYFLQY
IRETNIRDMFTQLDMDQLLGPEWDLYLMTIIALLLGTVIAYRQRQHQDMPAPRPPGPRPA
PPQQEGPPEQQPPQ
Sequence length 794
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
NEURODEVELOPMENTAL DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, POOR GROWTH, DYSMORPHIC FACIES, AND AGAMMAGLOBULINEMIA ClinVar, HPO
ClinVar, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, ABSENT SPEECH, PROGRESSIVE ATAXIA, AND DYSMORPHIC FACIES ClinVar, HPO
ClinVar, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 16647946, 9417916
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 14508516
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 21656579, 33797837 Associate
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 29725981
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 29725981 Associate
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Abdominal Aortic aneurysm Pubtator 31239294 Associate
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 12030374 Associate
★☆☆☆☆
Found in Text Mining only
Avellino corneal dystrophy Avellino Corneal Dystrophy BEFREE 28580641
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 25948789
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 14508516, 15880780
★☆☆☆☆
Found in Text Mining only