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Protein

Protein sel-1 homolog 1

Gene

SEL1L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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). 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.By similarity1 Publication

GO - Biological processi

  • endoplasmic reticulum mannose trimming Source: Reactome
  • ERAD pathway Source: UniProtKB
  • Notch signaling pathway Source: UniProtKB-KW
  • protein secretion Source: UniProtKB
  • protein stabilization Source: ParkinsonsUK-UCL
  • retrograde protein transport, ER to cytosol Source: ParkinsonsUK-UCL
  • transmembrane transport Source: Reactome
  • triglyceride metabolic process Source: UniProtKB
  • ubiquitin-dependent ERAD pathway Source: ParkinsonsUK-UCL

Keywordsi

Biological processNotch signaling pathway

Enzyme and pathway databases

ReactomeiR-HSA-1912420 Pre-NOTCH Processing in Golgi
R-HSA-382556 ABC-family proteins mediated transport
R-HSA-5358346 Hedgehog ligand biogenesis
R-HSA-5362768 Hh mutants that don't undergo autocatalytic processing are degraded by ERAD
R-HSA-5678895 Defective CFTR causes cystic fibrosis
R-HSA-901032 ER Quality Control Compartment (ERQC)

Names & Taxonomyi

Protein namesi
Recommended name:
Protein sel-1 homolog 1
Alternative name(s):
Suppressor of lin-12-like protein 1
Short name:
Sel-1L
Gene namesi
Name:SEL1L
Synonyms:TSA305
ORF Names:UNQ128/PRO1063
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000071537.13
HGNCiHGNC:10717 SEL1L
MIMi602329 gene
neXtProtiNX_Q9UBV2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini22 – 738LumenalSequence analysisAdd BLAST717
Transmembranei739 – 759HelicalSequence analysisAdd BLAST21
Topological domaini760 – 794CytoplasmicSequence analysisAdd BLAST35

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi6400
OpenTargetsiENSG00000071537
PharmGKBiPA35639

Polymorphism and mutation databases

BioMutaiSEL1L
DMDMi62512184

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 21Sequence analysisAdd BLAST21
ChainiPRO_000002229422 – 794Protein sel-1 homolog 1Add BLAST773

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei63PhosphoserineCombined sources1
Disulfide bondi127 ↔ 153PROSITE-ProRule annotation
Disulfide bondi141 ↔ 168PROSITE-ProRule annotation
Glycosylationi195N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi217N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi272N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi431N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi608N-linked (GlcNAc...) asparagine1 Publication1

Post-translational modificationi

N-glycosylated.3 Publications

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ9UBV2
PaxDbiQ9UBV2
PeptideAtlasiQ9UBV2
PRIDEiQ9UBV2
ProteomicsDBi84077
84078 [Q9UBV2-2]

PTM databases

iPTMnetiQ9UBV2
PhosphoSitePlusiQ9UBV2
SwissPalmiQ9UBV2

Expressioni

Tissue specificityi

Highly expressed in pancreas.

Gene expression databases

BgeeiENSG00000071537
CleanExiHS_SEL1L
ExpressionAtlasiQ9UBV2 baseline and differential
GenevisibleiQ9UBV2 HS

Organism-specific databases

HPAiHPA024267

Interactioni

Subunit structurei

Homodimer and homooligomer (By similarity). Interacts with SYVN1; the interaction is direct (PubMed:26471130). Part of a complex containing SEL1L, SYVN1 and DERL2 (PubMed:16186509). May form a complex with ERLEC1, HSPA5, OS9, and SYVN1 (PubMed:18502753, PubMed:18264092). Interacts with FOXRED2 and EDEM1 (PubMed:19524542, PubMed:19706418). Interacts with LPL (PubMed:25066055). Interacts with LMF1; may stabilize the complex formed by LPL and LMF1 and thereby promote the export of LPL dimers (By similarity).By similarity7 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi112300, 64 interactors
CORUMiQ9UBV2
DIPiDIP-46259N
IntActiQ9UBV2, 17 interactors
STRINGi9606.ENSP00000337053

Structurei

3D structure databases

ProteinModelPortaliQ9UBV2
SMRiQ9UBV2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini122 – 170Fibronectin type-IIPROSITE-ProRule annotationAdd BLAST49
Repeati183 – 218Sel1-like 1Add BLAST36
Repeati219 – 254Sel1-like 2Add BLAST36
Repeati255 – 290Sel1-like 3Add BLAST36
Repeati291 – 326Sel1-like 4Add BLAST36
Repeati373 – 409Sel1-like 5Add BLAST37
Repeati410 – 446Sel1-like 6Add BLAST37
Repeati447 – 482Sel1-like 7Add BLAST36
Repeati483 – 518Sel1-like 8Add BLAST36
Repeati519 – 554Sel1-like 9Add BLAST36
Repeati627 – 662Sel1-like 10Add BLAST36
Repeati664 – 699Sel1-like 11Add BLAST36

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni22 – 737Interaction with ERLEC1, OS9 and SYVN1Add BLAST716
Regioni352 – 537Important for homodimerization and oligomerizationBy similarityAdd BLAST186
Regioni643 – 723Interaction with SYVN1By similarityAdd BLAST81
Regioni738 – 794Mediates retention in the endoplasmic reticulumAdd BLAST57

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi770 – 793Pro-richAdd BLAST24

Sequence similaritiesi

Belongs to the sel-1 family.Curated

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1550 Eukaryota
COG0790 LUCA
GeneTreeiENSGT00530000063170
HOGENOMiHOG000239927
HOVERGENiHBG057766
InParanoidiQ9UBV2
KOiK14026
OMAiLAQMAMG
OrthoDBiEOG091G0315
PhylomeDBiQ9UBV2
TreeFamiTF315257

Family and domain databases

CDDicd00062 FN2, 1 hit
Gene3Di1.25.40.10, 3 hits
2.10.10.10, 1 hit
InterProiView protein in InterPro
IPR000562 FN_type2_dom
IPR036943 FN_type2_sf
IPR013806 Kringle-like
IPR006597 Sel1-like
IPR011990 TPR-like_helical_dom_sf
PfamiView protein in Pfam
PF00040 fn2, 1 hit
PF08238 Sel1, 12 hits
SMARTiView protein in SMART
SM00059 FN2, 1 hit
SM00671 SEL1, 11 hits
SUPFAMiSSF57440 SSF57440, 1 hit
PROSITEiView protein in PROSITE
PS00023 FN2_1, 1 hit
PS51092 FN2_2, 1 hit

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9UBV2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MRVRIGLTLL LCAVLLSLAS ASSDEEGSQD ESLDSKTTLT SDESVKDHTT
60 70 80 90 100
AGRVVAGQIF LDSEESELES SIQEEEDSLK SQEGESVTED ISFLESPNPE
110 120 130 140 150
NKDYEEPKKV RKPALTAIEG TAHGEPCHFP FLFLDKEYDE CTSDGREDGR
160 170 180 190 200
LWCATTYDYK ADEKWGFCET EEEAAKRRQM QEAEMMYQTG MKILNGSNKK
210 220 230 240 250
SQKREAYRYL QKAASMNHTK ALERVSYALL FGDYLPQNIQ AAREMFEKLT
260 270 280 290 300
EEGSPKGQTA LGFLYASGLG VNSSQAKALV YYTFGALGGN LIAHMVLGYR
310 320 330 340 350
YWAGIGVLQS CESALTHYRL VANHVASDIS LTGGSVVQRI RLPDEVENPG
360 370 380 390 400
MNSGMLEEDL IQYYQFLAEK GDVQAQVGLG QLHLHGGRGV EQNHQRAFDY
410 420 430 440 450
FNLAANAGNS HAMAFLGKMY SEGSDIVPQS NETALHYFKK AADMGNPVGQ
460 470 480 490 500
SGLGMAYLYG RGVQVNYDLA LKYFQKAAEQ GWVDGQLQLG SMYYNGIGVK
510 520 530 540 550
RDYKQALKYF NLASQGGHIL AFYNLAQMHA SGTGVMRSCH TAVELFKNVC
560 570 580 590 600
ERGRWSERLM TAYNSYKDGD YNAAVIQYLL LAEQGYEVAQ SNAAFILDQR
610 620 630 640 650
EASIVGENET YPRALLHWNR AASQGYTVAR IKLGDYHFYG FGTDVDYETA
660 670 680 690 700
FIHYRLASEQ QHSAQAMFNL GYMHEKGLGI KQDIHLAKRF YDMAAEASPD
710 720 730 740 750
AQVPVFLALC KLGVVYFLQY IRETNIRDMF TQLDMDQLLG PEWDLYLMTI
760 770 780 790
IALLLGTVIA YRQRQHQDMP APRPPGPRPA PPQQEGPPEQ QPPQ
Length:794
Mass (Da):88,755
Last modified:April 12, 2005 - v3
Checksum:i323EB03DC7485459
GO
Isoform 2 (identifier: Q9UBV2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     298-301: GYRY → VSRL
     302-794: Missing.

Note: No experimental confirmation available.
Show »
Length:301
Mass (Da):33,530
Checksum:i951E80519492827F
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti186M → V in AAF29413 (PubMed:10746565).Curated1
Sequence conflicti186M → V in AAL40905 (PubMed:10746565).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_029303162D → G. Corresponds to variant dbSNP:rs11499034Ensembl.1
Natural variantiVAR_053963714V → I. Corresponds to variant dbSNP:rs1051193Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_013322298 – 301GYRY → VSRL in isoform 2. 1 Publication4
Alternative sequenceiVSP_013323302 – 794Missing in isoform 2. 1 PublicationAdd BLAST493

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB024763 Genomic DNA Translation: BAA89204.1
AB020335 mRNA Translation: BAA87904.1
AF052059 mRNA Translation: AAF29413.1
AF157516 Genomic DNA Translation: AAF24176.1
AF198647
, AF198631, AF198632, AF198633, AF198634, AF198635, AF198636, AF198637, AF198638, AF198639, AF198640, AF198641, AF198642, AF198643, AF198644, AF198645, AF198646 Genomic DNA Translation: AAL40905.1
AY358651 mRNA Translation: AAQ89014.1
CCDSiCCDS58333.1 [Q9UBV2-2]
CCDS9876.1 [Q9UBV2-1]
RefSeqiNP_001231913.1, NM_001244984.1 [Q9UBV2-2]
NP_005056.3, NM_005065.5 [Q9UBV2-1]
UniGeneiHs.181300

Genome annotation databases

EnsembliENST00000336735; ENSP00000337053; ENSG00000071537 [Q9UBV2-1]
ENST00000555824; ENSP00000450709; ENSG00000071537 [Q9UBV2-2]
GeneIDi6400
KEGGihsa:6400
UCSCiuc001xvo.5 human [Q9UBV2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSE1L1_HUMAN
AccessioniPrimary (citable) accession number: Q9UBV2
Secondary accession number(s): Q6UWT6, Q9P1T9, Q9UHK7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: April 12, 2005
Last modified: June 20, 2018
This is version 158 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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