SEL1L
entrez
6400
canonical
uniprot
Q9UBV2
canonical
ensembl
ENSG00000071537
resolver
ensp
ENSP00000337053
resolver
ensp
ENSP00000450709
resolver
ensp
ENSP00000540964
resolver
ensp
ENSP00000623191
resolver
genesymbol
SEL1L
resolver
genesymbol_syn
TSA305
resolver
hgnc
HGNC:10717
resolver
uniprot
Q3ZCU6
resolver
uniprot
Q6UWT6
resolver
uniprot
Q9P1T9
resolver
uniprot
Q9UHK7
resolver
uniprot_entry
Q3ZCU6_HUMAN
resolver
uniprot_entry
SE1L1_HUMAN
resolver
uniprot_sec
Q6UWT6
resolver
uniprot_sec
Q9P1T9
resolver
uniprot_sec
Q9UHK7
resolver
amino_acid_sequence
MRVRIGLTLLLCAVLLSLASASSDEEGSQDESLDSKTTLTSDESVKDHTTAGRVVAGQIFLDSEESELESSIQEEEDSLKSQEGESVTEDISFLESPNPENKDYEEPKKVRKPALTAIEGTAHGEPCHFPFLFLDKEYDECTSDGREDGRLWCATTYDYKADEKWGFCETEEEAAKRRQMQEAEMMYQTGMKILNGSNKKSQKREAYRYLQKAASMNHTKALERVSYALLFGDYLPQNIQAAREMFEKLTEEGSPKGQTALGFLYASGLGVNSSQAKALVYYTFGALGGNLIAHMVLGYRYWAGIGVLQSCESALTHYRLVANHVASDISLTGGSVVQRIRLPDEVENPGMNSGMLEEDLIQYYQFLAEKGDVQAQVGLGQLHLHGGRGVEQNHQRAFDYFNLAANAGNSHAMAFLGKMYSEGSDIVPQSNETALHYFKKAADMGNPVGQSGLGMAYLYGRGVQVNYDLALKYFQKAAEQGWVDGQLQLGSMYYNGIGVKRDYKQALKYFNLASQGGHILAFYNLAQMHASGTGVMRSCHTAVELFKNVCERGRWSERLMTAYNSYKDGDYNAAVIQYLLLAEQGYEVAQSNAAFILDQREASIVGENETYPRALLHWNRAASQGYTVARIKLGDYHFYGFGTDVDYETAFIHYRLASEQQHSAQAMFNLGYMHEKGLGIKQDIHLAKRFYDMAAEASPDAQVPVFLALCKLGVVYFLQYIRETNIRDMFTQLDMDQLLGPEWDLYLMTIIALLLGTVIAYRQRQHQDMPAPRPPGPRPAPPQQEGPPEQQPPQ
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies (NEDGSAF) [MIM:621067]: A severe, autosomal recessive disorder with onset in infancy and characterized by developmental delay, absent speech, intellectual disability, short stature, microcephaly, facial dysmorphism, hypotonia, and/or ataxia. {ECO:0000269|PubMed:37943610}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia (NEDHGFA) [MIM:621068]: A severe, autosomal recessive disorder with onset in early infancy and characterized by general developmental delay, intellectual disability, absent speech, severe axial hypotonia, short stature, and microcephaly. Patients exhibit agammaglobulinemia with no mature B cells, resulting in recurrent upper and lower respiratory infections and early death. {ECO:0000269|PubMed:37943617}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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, PubMed:37943610, PubMed:37943617). Enhances SYVN1 stability. Plays a role in LPL maturation and secretion. Required for normal differentiation of the pancreas epithelium, and for normal exocrine function and survival of pancreatic cells. May play a role in Notch signaling. {ECO:0000250|UniProtKB:Q9Z2G6, ECO:0000269|PubMed:16186509, ECO:0000269|PubMed:29997207, ECO:0000269|PubMed:37943610, ECO:0000269|PubMed:37943617}.
uniprot
proteins
mass_dalton
88755
uniprot
proteins
mutagenesis
MUTAGEN 127; /note="C->Y: Results in proteasome-mediated self-destruction of ERAD complex components and impaired degradation of ERAD substrates."; /evidence="ECO:0000269|PubMed:37943617
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:12754519, ECO:0000269|PubMed:18502753, ECO:0000269|PubMed:19159218}.
uniprot
proteins
protein_family
Sel-1 family
uniprot
proteins
pubmed
10496078
uniprot
proteins
pubmed
10746565
uniprot
proteins
pubmed
12754519
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
16186509
uniprot
proteins
pubmed
18264092
uniprot
proteins
pubmed
18502753
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
19524542
uniprot
proteins
pubmed
19706418
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25066055
uniprot
proteins
pubmed
26471130
uniprot
proteins
pubmed
28827405
uniprot
proteins
pubmed
29997207
uniprot
proteins
pubmed
37943610
uniprot
proteins
pubmed
37943617
uniprot
proteins
sequence_length
794
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:16186509}; Single-pass type I membrane protein {ECO:0000269|PubMed:16186509}.
uniprot
proteins
transmembrane_region
TRANSMEM 739..759; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins