Q96DZ1 (ERLEC_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Endoplasmic reticulum lectin 1

Alternative name(s):
ER lectin
Short name=Erlectin
XTP3-transactivated gene B protein

Gene names

Name:	ERLEC1
Synonyms:	C2orf30, XTP3TPB
ORF Names:	UNQ1878/PRO4321

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	483 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	Probable lectin that binds selectively to improperly folded lumenal proteins. May function in endoplasmic reticulum quality control and endoplasmic reticulum-associated degradation (ERAD) of both non-glycosylated proteins and glycoproteins. Ref.8 Ref.9 Ref.10
Subunit structure	May form a complex with OS9, HSPA5, SYVN1, and SEL1L with which it interacts directly. Interacts (via PRKCSH 2 domain) with KREMEN2 (when glycosylated). Interacts with HSPA5. Ref.8 Ref.9 Ref.10
Subcellular location	Endoplasmic reticulum lumen Ref.8 Ref.9.
Post-translational modification	Isoform 1 and isoform 2 are N-glycosylated. Ref.9
Sequence similarities	Contains 2 PRKCSH domains.

Ontologies

Keywords
Cellular component	Endoplasmic reticulum
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat Signal
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	ER-associated protein catabolic process Inferred from direct assay Ref.9. Source: UniProtKB
Cellular_component	endoplasmic reticulum lumen Inferred from direct assay Ref.8Ref.10. Source: UniProtKB
Molecular_function	glycoprotein binding Inferred from direct assay Ref.8. Source: UniProtKB
Complete GO annotation...

Alternative products

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

Isoform 1 (identifier: Q96DZ1-1)

Also known as: hXTP3B-long;

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: Q96DZ1-2)

Also known as: hXTP3B-short;

The sequence of this isoform differs from the canonical sequence as follows:
     294-347: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 33	33	Potential
	Chain	34 – 483	450	Endoplasmic reticulum lectin 1		PRO_0000042182
Regions
	Domain	111 – 180	70	PRKCSH 1
	Domain	342 – 418	77	PRKCSH 2
Amino acid modifications
	Glycosylation	195	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	294 – 347	54	Missing in isoform 2.		VSP_015790
	Natural variant	318	1	V → L. Corresponds to variant rs2287345 [ dbSNP | Ensembl ].		VAR_051493
Experimental info
	Mutagenesis	207	1	R → A: Abolishes interaction with SEL1L. Ref.10
	Mutagenesis	379	1	G → S: Abolishes binding to KREMEN2. Ref.8
	Mutagenesis	428	1	R → A: Abolishes interaction with SEL1L. Ref.10
	Sequence conflict	331	1	D → G in BAA91974. Ref.3
	Sequence conflict	392	1	K → E in BAA91974. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (hXTP3B-long) [UniParc]. Last modified December 1, 2001. Version 1. Checksum: 35F78A1468457468	FASTA	483	54,858
	10 20 30 40 50 60 MEEGGGGVRS LVPGGPVLLV LCGLLEASGG GRALPQLSDD IPFRVNWPGT EFSLPTTGVL 70 80 90 100 110 120 YKEDNYVIMT TAHKEKYKCI LPLVTSGDEE EEKDYKGPNP RELLEPLFKQ SSCSYRIESY 130 140 150 160 170 180 WTYEVCHGKH IRQYHEEKET GQKINIHEYY LGNMLAKNLL FEKEREAEEK EKSNEIPTKN 190 200 210 220 230 240 IEGQMTPYYP VGMGNGTPCS LKQNRPRSST VMYICHPESK HEILSVAEVT TCEYEVVILT 250 260 270 280 290 300 PLLCSHPKYR FRASPVNDIF CQSLPGSPFK PLTLRQLEQQ EEILRVPFRR NKEEDLQSTK 310 320 330 340 350 360 EERFPAIHKS IAIGSQPVLT VGTTHISKLT DDQLIKEFLS GSYCFRGGVG WWKYEFCYGK 370 380 390 400 410 420 HVHQYHEDKD SGKTSVVVGT WNQEEHIEWA KKNTARAYHL QDDGTQTVRM VSHFYGNGDI 430 440 450 460 470 480 CDITDKPRQV TVKLKCKESD SPHAVTVYML EPHSCQYILG VESPVICKIL DTADENGLLS LPN
	Isoform 2 (hXTP3B-short) [UniParc]. Checksum: CA13F3B6EC4BFC85	FASTA	429	48,882
	10 20 30 40 50 60 MEEGGGGVRS LVPGGPVLLV LCGLLEASGG GRALPQLSDD IPFRVNWPGT EFSLPTTGVL 70 80 90 100 110 120 YKEDNYVIMT TAHKEKYKCI LPLVTSGDEE EEKDYKGPNP RELLEPLFKQ SSCSYRIESY 130 140 150 160 170 180 WTYEVCHGKH IRQYHEEKET GQKINIHEYY LGNMLAKNLL FEKEREAEEK EKSNEIPTKN 190 200 210 220 230 240 IEGQMTPYYP VGMGNGTPCS LKQNRPRSST VMYICHPESK HEILSVAEVT TCEYEVVILT 250 260 270 280 290 300 PLLCSHPKYR FRASPVNDIF CQSLPGSPFK PLTLRQLEQQ EEILRVPFRR NKEGVGWWKY 310 320 330 340 350 360 EFCYGKHVHQ YHEDKDSGKT SVVVGTWNQE EHIEWAKKNT ARAYHLQDDG TQTVRMVSHF 370 380 390 400 410 420 YGNGDICDIT DKPRQVTVKL KCKESDSPHA VTVYMLEPHS CQYILGVESP VICKILDTAD ENGLLSLPN

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Screening and cloning of the target genes transactivated by XTP3 using a suppression subtractive hybridization technique." Wang C., Cheng J., Lang Z., Wu Y., Yang Y., Zhang L., Ji D. Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Placenta.
[4]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Kidney and Placenta.
[7]	Mei G., Yu W., Gibbs R.A. Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 178-483. Tissue: Brain.
[8]	"The MRH protein Erlectin is a member of the endoplasmic reticulum synexpression group and functions in N-glycan recognition." Cruciat C.-M., Hassler C., Niehrs C. J. Biol. Chem. 281:12986-12993(2006) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, IDENTIFICATION BY MASS SPECTROMETRY, INTERACTION WITH KREMEN2, SUBCELLULAR LOCATION, MUTAGENESIS OF GLY-379.
[9]	"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] [Europe PMC] [Abstract] Cited for: FUNCTION IN ERAD, SUBCELLULAR LOCATION, GLYCOSYLATION, INTERACTION WITH HSPA5; OS9; SEL1L AND SYVN1.
[10]	"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] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH HSPA5; SEL1L AND SYVN1, MUTAGENESIS OF ARG-207 AND ARG-428.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY453410 mRNA. Translation: AAR26725.1. AY358717 mRNA. Translation: AAQ89079.1. AK001913 mRNA. Translation: BAA91974.1. AK315477 mRNA. Translation: BAG37861.1. AC007883 Genomic DNA. Translation: AAY24352.1. CH471053 Genomic DNA. Translation: EAX00164.1. BC013129 mRNA. Translation: AAH13129.1. BC022228 mRNA. Translation: AAH22228.1. AF131743 mRNA. Translation: AAD20029.1. AF131849 mRNA. Translation: AAD20060.1.
IPI	IPI00432337. IPI00748151.
RefSeq	NP_001120869.1. NM_001127397.2. NP_001120870.1. NM_001127398.2. NP_056516.2. NM_015701.4.
UniGene	Hs.438336. Hs.713845.
3D structure databases
ProteinModelPortal	Q96DZ1.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q96DZ1. 1 interaction.
MINT	MINT-1148532.
STRING	9606.ENSP00000185150.
PTM databases
PhosphoSite	Q96DZ1.
Polymorphism databases
DMDM	74731510.
Proteomic databases
PaxDb	Q96DZ1.
PRIDE	Q96DZ1.
Protocols and materials databases
DNASU	27248.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000185150; ENSP00000185150; ENSG00000068912. ENST00000378239; ENSP00000367485; ENSG00000068912.
GeneID	27248.
KEGG	hsa:27248.
UCSC	uc002rxl.3. human. uc002rxn.3. human.
Organism-specific databases
CTD	27248.
GeneCards	GC02P054015.
HGNC	HGNC:25222. ERLEC1.
HPA	HPA031501. HPA031502. HPA031503.
MIM	611229. gene.
neXtProt	NX_Q96DZ1.
PharmGKB	PA165696636.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG240935.
HOGENOM	HOG000047563.
InParanoid	Q96DZ1.
KO	K14008.
OMA	AIHKPIA.
PhylomeDB	Q96DZ1.
Gene expression databases
ArrayExpress	Q96DZ1.
Bgee	Q96DZ1.
CleanEx	HS_C2orf30.
Genevestigator	Q96DZ1.
GermOnline	ENSG00000068912. Homo sapiens.
Family and domain databases
InterPro	IPR009011. Man6P_isomerase_rcpt-bd_dom. IPR012913. PRKCSH. [Graphical view]
Pfam	PF07915. PRKCSH. 2 hits. [Graphical view]
SUPFAM	SSF50911. Man6php_recept. 2 hits.
ProtoNet	Search...
Other
GenomeRNAi	27248.
NextBio	50171.
SOURCE	Search...

Entry information

Entry name

ERLEC_HUMAN

Accession

Primary (citable) accession number: Q96DZ1
Secondary accession number(s): B2RDB4 , O95901, Q6UWN7, Q9NUY7, Q9UQL4

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 27, 2005
Last sequence update:	December 1, 2001
Last modified:	May 1, 2013
This is version 97 of the entry and version 1 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.