Q9UBV2 (SE1L1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein sel-1 homolog 1

Alternative name(s):
Suppressor of lin-12-like protein 1
Short name=Sel-1L

Gene names

Name:	SEL1L
Synonyms:	TSA305
ORF Names:	UNQ128/PRO1063

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	794 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

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. Ref.5
Subunit structure	Part of a complex containing SEL1L, SYVN1 and DERL2. May form a complex with ERLEC1, HSPA5, OS9, and SYVN1. Interacts with FOXRED2 and EDEM1. Ref.5 Ref.6 Ref.7 Ref.9 Ref.10
Subcellular location	Endoplasmic reticulum membrane; Single-pass type I membrane protein Ref.5.
Tissue specificity	Highly expressed in pancreas.
Post-translational modification	N-glycosylated. Ref.4 Ref.6 Ref.8
Sequence similarities	Belongs to the sel-1 family. Contains 1 fibronectin type-II domain. Contains 11 Sel1-like repeats.

Ontologies

Keywords
Biological process	Notch signaling pathway
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat Signal Transmembrane Transmembrane helix
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	Notch signaling pathway Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Non-traceable author statement. Source: UniProtKB
Molecular function	protein binding Inferred from physical interaction Ref.7Ref.6Ref.9Ref.10. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9UBV2-1)

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.

Isoform 2 (identifier: Q9UBV2-2)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 21	21	Potential
	Chain	22 – 794	773	Protein sel-1 homolog 1		PRO_0000022294
Regions
	Topological domain	22 – 738	717	Lumenal Potential
	Transmembrane	739 – 759	21	Helical; Potential
	Topological domain	760 – 794	35	Cytoplasmic Potential
	Domain	122 – 170	49	Fibronectin type-II
	Repeat	183 – 218	36	Sel1-like 1
	Repeat	219 – 254	36	Sel1-like 2
	Repeat	255 – 290	36	Sel1-like 3
	Repeat	291 – 326	36	Sel1-like 4
	Repeat	373 – 409	37	Sel1-like 5
	Repeat	410 – 446	37	Sel1-like 6
	Repeat	447 – 482	36	Sel1-like 7
	Repeat	483 – 518	36	Sel1-like 8
	Repeat	519 – 554	36	Sel1-like 9
	Repeat	627 – 662	36	Sel1-like 10
	Repeat	664 – 699	36	Sel1-like 11
	Region	22 – 737	716	Interaction with ERLEC1, OS9 and SYVN1
	Region	738 – 794	57	Mediates retention to the endoplasmic reticulum
	Compositional bias	770 – 793	24	Pro-rich
Amino acid modifications
	Glycosylation	195	1	N-linked (GlcNAc...) Potential
	Glycosylation	217	1	N-linked (GlcNAc...) Potential
	Glycosylation	272	1	N-linked (GlcNAc...) Ref.4
	Glycosylation	431	1	N-linked (GlcNAc...) Ref.8
	Glycosylation	608	1	N-linked (GlcNAc...) Ref.8
	Disulfide bond	127 ↔ 153		By similarity
	Disulfide bond	141 ↔ 168		By similarity
Natural variations
	Alternative sequence	298 – 301	4	GYRY → VSRL in isoform 2.		VSP_013322
	Alternative sequence	302 – 794	493	Missing in isoform 2.		VSP_013323
	Natural variant	162	1	D → G. Corresponds to variant rs11499034 [ dbSNP | Ensembl ].		VAR_029303
	Natural variant	714	1	V → I. Corresponds to variant rs1051193 [ dbSNP | Ensembl ].		VAR_053963
Experimental info
	Sequence conflict	186	1	M → V in AAF29413. Ref.2
	Sequence conflict	186	1	M → V in AAL40905. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 12, 2005. Version 3. Checksum: 323EB03DC7485459	FASTA	794	88,755
	10 20 30 40 50 60 MRVRIGLTLL LCAVLLSLAS ASSDEEGSQD ESLDSKTTLT SDESVKDHTT AGRVVAGQIF 70 80 90 100 110 120 LDSEESELES SIQEEEDSLK SQEGESVTED ISFLESPNPE NKDYEEPKKV RKPALTAIEG 130 140 150 160 170 180 TAHGEPCHFP FLFLDKEYDE CTSDGREDGR LWCATTYDYK ADEKWGFCET EEEAAKRRQM 190 200 210 220 230 240 QEAEMMYQTG MKILNGSNKK SQKREAYRYL QKAASMNHTK ALERVSYALL FGDYLPQNIQ 250 260 270 280 290 300 AAREMFEKLT EEGSPKGQTA LGFLYASGLG VNSSQAKALV YYTFGALGGN LIAHMVLGYR 310 320 330 340 350 360 YWAGIGVLQS CESALTHYRL VANHVASDIS LTGGSVVQRI RLPDEVENPG MNSGMLEEDL 370 380 390 400 410 420 IQYYQFLAEK GDVQAQVGLG QLHLHGGRGV EQNHQRAFDY FNLAANAGNS HAMAFLGKMY 430 440 450 460 470 480 SEGSDIVPQS NETALHYFKK AADMGNPVGQ SGLGMAYLYG RGVQVNYDLA LKYFQKAAEQ 490 500 510 520 530 540 GWVDGQLQLG SMYYNGIGVK RDYKQALKYF NLASQGGHIL AFYNLAQMHA SGTGVMRSCH 550 560 570 580 590 600 TAVELFKNVC ERGRWSERLM TAYNSYKDGD YNAAVIQYLL LAEQGYEVAQ SNAAFILDQR 610 620 630 640 650 660 EASIVGENET YPRALLHWNR AASQGYTVAR IKLGDYHFYG FGTDVDYETA FIHYRLASEQ 670 680 690 700 710 720 QHSAQAMFNL GYMHEKGLGI KQDIHLAKRF YDMAAEASPD AQVPVFLALC KLGVVYFLQY 730 740 750 760 770 780 IRETNIRDMF TQLDMDQLLG PEWDLYLMTI IALLLGTVIA YRQRQHQDMP APRPPGPRPA 790 PPQQEGPPEQ QPPQ
	Isoform 2 [UniParc]. Checksum: 951E80519492827F	FASTA	301	33,530
	10 20 30 40 50 60 MRVRIGLTLL LCAVLLSLAS ASSDEEGSQD ESLDSKTTLT SDESVKDHTT AGRVVAGQIF 70 80 90 100 110 120 LDSEESELES SIQEEEDSLK SQEGESVTED ISFLESPNPE NKDYEEPKKV RKPALTAIEG 130 140 150 160 170 180 TAHGEPCHFP FLFLDKEYDE CTSDGREDGR LWCATTYDYK ADEKWGFCET EEEAAKRRQM 190 200 210 220 230 240 QEAEMMYQTG MKILNGSNKK SQKREAYRYL QKAASMNHTK ALERVSYALL FGDYLPQNIQ 250 260 270 280 290 300 AAREMFEKLT EEGSPKGQTA LGFLYASGLG VNSSQAKALV YYTFGALGGN LIAHMVLVSR L

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Complete cDNA sequence and genomic organization of a human pancreas-specific gene homologous to Caenorhabditis elegans sel-1." Harada Y., Ozaki K., Suzuki M., Fujiwara T., Takahashi E., Nakamura Y., Tanigami A. J. Hum. Genet. 44:330-336(1999) [PubMed: 10496078] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Pancreas.
[2]	"SEL1L, the human homolog of C. elegans sel-1: refined physical mapping, gene structure and identification of polymorphic markers." Biunno I., Bernard L., Dear P., Cattaneo M., Volorio S., Zannini L., Bankier A., Zollo M. Hum. Genet. 106:227-235(2000) [PubMed: 10746565] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. Tissue: Pancreas.
[3]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed: 12975309] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[4]	"Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry." Zhang H., Li X.-J., Martin D.B., Aebersold R. Nat. Biotechnol. 21:660-666(2003) [PubMed: 12754519] [Abstract] Cited for: GLYCOSYLATION AT ASN-272.
[5]	"Multiprotein complexes that link dislocation, ubiquitination, and extraction of misfolded proteins from the endoplasmic reticulum membrane." Lilley B.N., Ploegh H.L. Proc. Natl. Acad. Sci. U.S.A. 102:14296-14301(2005) [PubMed: 16186509] [Abstract] Cited for: FUNCTION, INTERACTION WITH SYVN1, IDENTIFICATION IN A COMPLEX WITH SYVN1 AND DERL2, SUBCELLULAR LOCATION.
[6]	"Human XTP3-B forms an endoplasmic reticulum quality control scaffold with the HRD1-SEL1L ubiquitin ligase complex and BiP." Hosokawa N., Wada I., Nagasawa K., Moriyama T., Okawa K., Nagata K. J. Biol. Chem. 283:20914-20924(2008) [PubMed: 18502753] [Abstract] Cited for: GLYCOSYLATION, INTERACTION WITH ERLEC1; HSPA5; OS9 AND SYVN1.
[7]	"OS-9 and GRP94 deliver mutant alpha1-antitrypsin to the Hrd1-SEL1L ubiquitin ligase complex for ERAD." Christianson J.C., Shaler T.A., Tyler R.E., Kopito R.R. Nat. Cell Biol. 10:272-282(2008) [PubMed: 18264092] [Abstract] Cited for: INTERACTION WITH ERLEC1; OS9 AND SYVN1.
[8]	"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry." Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H. J. Proteome Res. 8:651-661(2009) [PubMed: 19159218] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-431 AND ASN-608, MASS SPECTROMETRY. Tissue: Liver.
[9]	"EDEM1 recognition and delivery of misfolded proteins to the SEL1L-containing ERAD complex." Cormier J.H., Tamura T., Sunryd J.C., Hebert D.N. Mol. Cell 34:627-633(2009) [PubMed: 19524542] [Abstract] Cited for: INTERACTION WITH EDEM1.
[10]	"A luminal flavoprotein in endoplasmic reticulum-associated degradation." Riemer J., Appenzeller-Herzog C., Johansson L., Bodenmiller B., Hartmann-Petersen R., Ellgaard L. Proc. Natl. Acad. Sci. U.S.A. 106:14831-14836(2009) [PubMed: 19706418] [Abstract] Cited for: INTERACTION WITH FOXRED2.
[11]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00002790. IPI00555723.
RefSeq	NP_001231913.1. NM_001244984.1. NP_005056.3. NM_005065.5.
UniGene	Hs.181300.
3D structure databases
ProteinModelPortal	Q9UBV2.
SMR	Q9UBV2. Positions 116-168, 178-718.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-46259N.
IntAct	Q9UBV2. 3 interactions.
MINT	MINT-1153834.
STRING	Q9UBV2.
Polymorphism databases
DMDM	62512184.
Proteomic databases
PeptideAtlas	Q9UBV2.
PRIDE	Q9UBV2.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000336735; ENSP00000337053; ENSG00000071537.
GeneID	6400.
KEGG	hsa:6400.
UCSC	uc001xvn.1. human. uc001xvo.2. human.
Organism-specific databases
CTD	6400.
GeneCards	GC14M081937.
H-InvDB	HIX0026625.
HGNC	HGNC:10717. SEL1L.
HPA	HPA024267.
MIM	602329. gene.
neXtProt	NX_Q9UBV2.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00530000063170.
HOGENOM	HBG607986.
HOVERGEN	HBG057766.
InParanoid	Q9UBV2.
OMA	EEGNQDE.
OrthoDB	EOG4N04DH.
PhylomeDB	Q9UBV2.
Gene expression databases
ArrayExpress	Q9UBV2.
Bgee	Q9UBV2.
CleanEx	HS_SEL1L.
Genevestigator	Q9UBV2.
GermOnline	ENSG00000071537. Homo sapiens.
Family and domain databases
InterPro	IPR000562. FN_type2_col-bd. IPR013806. Kringle-like. IPR006597. Sel1-like. IPR011990. TPR-like_helical. [Graphical view]
Gene3D	G3DSA:2.10.10.10. FN2. 1 hit. G3DSA:1.25.40.10. TPR-like_helical. 4 hits.
KO	K14026.
Pfam	PF00040. fn2. 1 hit. PF08238. Sel1. 12 hits. [Graphical view]
SMART	SM00059. FN2. 1 hit. SM00671. SEL1. 11 hits. [Graphical view]
SUPFAM	SSF57440. Kringle-like. 1 hit.
PROSITE	PS00023. FN2_1. 1 hit. PS51092. FN2_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	24866.
SOURCE	Search...

Entry information

Entry name

SE1L1_HUMAN

Accession

Primary (citable) accession number: Q9UBV2
Secondary accession number(s): Q6UWT6, Q9P1T9, Q9UHK7

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 27, 2001
Last sequence update:	April 12, 2005
Last modified:	January 25, 2012
This is version 99 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.