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Protein

Protein sel-1 homolog 1

Gene

SEL1L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
  • ER-associated ubiquitin-dependent protein catabolic process Source: ParkinsonsUK-UCL
  • Notch signaling pathway Source: UniProtKB-KW
  • protein secretion Source: UniProtKB
  • protein stabilization Source: ParkinsonsUK-UCL
  • retrograde protein transport, ER to cytosol Source: ParkinsonsUK-UCL
  • triglyceride metabolic process Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Notch signaling pathway

Enzyme and pathway databases

ReactomeiR-HSA-1912420. Pre-NOTCH Processing in Golgi.
R-HSA-5358346. Hedgehog ligand biogenesis.
R-HSA-5362768. Hh mutants that don't undergo autocatalytic processing are degraded by ERAD.
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

HGNCiHGNC:10717. SEL1L.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini22 – 738717LumenalSequence analysisAdd
BLAST
Transmembranei739 – 75921HelicalSequence analysisAdd
BLAST
Topological domaini760 – 79435CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

  • Derlin-1 retrotranslocation complex Source: ParkinsonsUK-UCL
  • endoplasmic reticulum Source: UniProtKB
  • endoplasmic reticulum membrane Source: Reactome
  • endoplasmic reticulum quality control compartment Source: GOC
  • Hrd1p ubiquitin ligase complex Source: ParkinsonsUK-UCL
  • Hrd1p ubiquitin ligase ERAD-L complex Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA35639.

Polymorphism and mutation databases

BioMutaiSEL1L.
DMDMi62512184.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2121Sequence analysisAdd
BLAST
Chaini22 – 794773Protein sel-1 homolog 1PRO_0000022294Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei63 – 631PhosphoserineCombined sources
Disulfide bondi127 ↔ 153PROSITE-ProRule annotation
Disulfide bondi141 ↔ 168PROSITE-ProRule annotation
Glycosylationi195 – 1951N-linked (GlcNAc...)Sequence analysis
Glycosylationi217 – 2171N-linked (GlcNAc...)Sequence analysis
Glycosylationi272 – 2721N-linked (GlcNAc...)1 Publication
Glycosylationi431 – 4311N-linked (GlcNAc...)1 Publication
Glycosylationi608 – 6081N-linked (GlcNAc...)1 Publication

Post-translational modificationi

N-glycosylated.3 Publications

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ9UBV2.
MaxQBiQ9UBV2.
PaxDbiQ9UBV2.
PeptideAtlasiQ9UBV2.
PRIDEiQ9UBV2.

PTM databases

iPTMnetiQ9UBV2.
PhosphoSiteiQ9UBV2.
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

Protein-protein interaction databases

BioGridi112300. 53 interactions.
DIPiDIP-46259N.
IntActiQ9UBV2. 8 interactions.
MINTiMINT-1153834.
STRINGi9606.ENSP00000337053.

Structurei

3D structure databases

ProteinModelPortaliQ9UBV2.
SMRiQ9UBV2. Positions 116-168, 190-717.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini122 – 17049Fibronectin type-IIPROSITE-ProRule annotationAdd
BLAST
Repeati183 – 21836Sel1-like 1Add
BLAST
Repeati219 – 25436Sel1-like 2Add
BLAST
Repeati255 – 29036Sel1-like 3Add
BLAST
Repeati291 – 32636Sel1-like 4Add
BLAST
Repeati373 – 40937Sel1-like 5Add
BLAST
Repeati410 – 44637Sel1-like 6Add
BLAST
Repeati447 – 48236Sel1-like 7Add
BLAST
Repeati483 – 51836Sel1-like 8Add
BLAST
Repeati519 – 55436Sel1-like 9Add
BLAST
Repeati627 – 66236Sel1-like 10Add
BLAST
Repeati664 – 69936Sel1-like 11Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni22 – 737716Interaction with ERLEC1, OS9 and SYVN1Add
BLAST
Regioni352 – 537186Important for homodimerization and oligomerizationBy similarityAdd
BLAST
Regioni643 – 72381Interaction with SYVN1By similarityAdd
BLAST
Regioni738 – 79457Mediates retention in the endoplasmic reticulumAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi770 – 79324Pro-richAdd
BLAST

Sequence similaritiesi

Belongs to the sel-1 family.Curated
Contains 1 fibronectin type-II domain.PROSITE-ProRule annotation
Contains 11 Sel1-like repeats.Curated

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

CDDicd00062. FN2. 1 hit.
Gene3Di1.25.40.10. 4 hits.
2.10.10.10. 1 hit.
InterProiIPR000562. FN_type2_col-bd.
IPR013806. Kringle-like.
IPR006597. Sel1-like.
IPR011990. TPR-like_helical_dom.
[Graphical view]
PfamiPF00040. fn2. 1 hit.
PF08238. Sel1. 12 hits.
[Graphical view]
SMARTiSM00059. FN2. 1 hit.
SM00671. SEL1. 11 hits.
[Graphical view]
SUPFAMiSSF57440. SSF57440. 1 hit.
PROSITEiPS00023. FN2_1. 1 hit.
PS51092. FN2_2. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti186 – 1861M → V in AAF29413 (PubMed:10746565).Curated
Sequence conflicti186 – 1861M → V in AAL40905 (PubMed:10746565).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti162 – 1621D → G.
Corresponds to variant rs11499034 [ dbSNP | Ensembl ].
VAR_029303
Natural varianti714 – 7141V → I.
Corresponds to variant rs1051193 [ dbSNP | Ensembl ].
VAR_053963

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei298 – 3014GYRY → VSRL in isoform 2. 1 PublicationVSP_013322
Alternative sequencei302 – 794493Missing in isoform 2. 1 PublicationVSP_013323Add
BLAST

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

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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.

3D structure databases

ProteinModelPortaliQ9UBV2.
SMRiQ9UBV2. Positions 116-168, 190-717.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112300. 53 interactions.
DIPiDIP-46259N.
IntActiQ9UBV2. 8 interactions.
MINTiMINT-1153834.
STRINGi9606.ENSP00000337053.

PTM databases

iPTMnetiQ9UBV2.
PhosphoSiteiQ9UBV2.
SwissPalmiQ9UBV2.

Polymorphism and mutation databases

BioMutaiSEL1L.
DMDMi62512184.

Proteomic databases

EPDiQ9UBV2.
MaxQBiQ9UBV2.
PaxDbiQ9UBV2.
PeptideAtlasiQ9UBV2.
PRIDEiQ9UBV2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi6400.
GeneCardsiSEL1L.
HGNCiHGNC:10717. SEL1L.
HPAiHPA024267.
MIMi602329. gene.
neXtProtiNX_Q9UBV2.
PharmGKBiPA35639.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

ReactomeiR-HSA-1912420. Pre-NOTCH Processing in Golgi.
R-HSA-5358346. Hedgehog ligand biogenesis.
R-HSA-5362768. Hh mutants that don't undergo autocatalytic processing are degraded by ERAD.
R-HSA-901032. ER Quality Control Compartment (ERQC).

Miscellaneous databases

ChiTaRSiSEL1L. human.
GeneWikiiSEL1L.
GenomeRNAii6400.
PROiQ9UBV2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000071537.
CleanExiHS_SEL1L.
ExpressionAtlasiQ9UBV2. baseline and differential.
GenevisibleiQ9UBV2. HS.

Family and domain databases

CDDicd00062. FN2. 1 hit.
Gene3Di1.25.40.10. 4 hits.
2.10.10.10. 1 hit.
InterProiIPR000562. FN_type2_col-bd.
IPR013806. Kringle-like.
IPR006597. Sel1-like.
IPR011990. TPR-like_helical_dom.
[Graphical view]
PfamiPF00040. fn2. 1 hit.
PF08238. Sel1. 12 hits.
[Graphical view]
SMARTiSM00059. FN2. 1 hit.
SM00671. SEL1. 11 hits.
[Graphical view]
SUPFAMiSSF57440. SSF57440. 1 hit.
PROSITEiPS00023. FN2_1. 1 hit.
PS51092. FN2_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSE1L1_HUMAN
AccessioniPrimary (citable) accession number: Q9UBV2
Secondary accession number(s): Q6UWT6, Q9P1T9, Q9UHK7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: April 12, 2005
Last modified: September 7, 2016
This is version 142 of the entry and version 3 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.