Q9BV94 (EDEM2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
ER degradation-enhancing alpha-mannosidase-like 2

Gene names

Name:	EDEM2
Synonyms:	C20orf31, C20orf49
ORF Names:	UNQ573/PRO1135

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	578 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	Involved in endoplasmic reticulum-associated degradation (ERAD) that targets misfolded glycoproteins for degradation in an N-glycan-dependent manner. It lacks mannosidase activity. Extracts misfolded glycoproteins, but not glycoproteins undergoing productive folding, from the calnexin cycle. Ref.7 Ref.8
Subcellular location	Secreted. Endoplasmic reticulum lumen Ref.7 Ref.8.
Tissue specificity	Expressed ubiquitously in all tissues tested with slightly higher levels detected in small intestine and peripheral blood leukocytes and weakest levels in brain and skeletal muscle. Ref.7
Induction	Up-regulated by the unfolded protein response (UPR) via the XBP1 transcription factor. Ref.8
Post-translational modification	Glycosylated. Ref.7
Sequence similarities	Belongs to the glycosyl hydrolase 47 family.

Ontologies

Keywords
Biological process	Unfolded protein response
Cellular component	Endoplasmic reticulum Secreted
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	post-translational protein modification Traceable author statement. Source: Reactome protein N-linked glycosylation via asparagine Traceable author statement. Source: Reactome protein folding Traceable author statement. Source: Reactome response to unfolded protein Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	endoplasmic reticulum lumen Inferred from electronic annotation. Source: UniProtKB-SubCell endoplasmic reticulum membrane Traceable author statement. Source: Reactome extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	calcium ion binding Inferred from electronic annotation. Source: InterPro mannosyl-oligosaccharide 1,2-alpha-mannosidase activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

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

Isoform 1 (identifier: Q9BV94-1)

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: Q9BV94-2)

The sequence of this isoform differs from the canonical sequence as follows:
     36-72: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 21	21	Potential
	Chain	22 – 578	557	ER degradation-enhancing alpha-mannosidase-like 2		PRO_0000012086
Amino acid modifications
	Glycosylation	90	1	N-linked (GlcNAc...) Potential
	Glycosylation	112	1	N-linked (GlcNAc...) Potential
	Glycosylation	289	1	N-linked (GlcNAc...) Potential
	Glycosylation	450	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	36 – 72	37	Missing in isoform 2.		VSP_013183
	Natural variant	456	1	A → T. Ref.6 Corresponds to variant rs3746429 [ dbSNP | Ensembl ].		VAR_012165
	Natural variant	510	1	R → Q. Corresponds to variant rs6060248 [ dbSNP | Ensembl ].		VAR_055842
	Natural variant	556	1	L → F. Corresponds to variant rs1052056 [ dbSNP | Ensembl ].		VAR_055843
Experimental info
	Sequence conflict	482	1	P → L in AAQ88943. Ref.2
	Sequence conflict	511	1	S → C in BAA91806. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 16, 2001. Version 2. Checksum: EEEADA069C159759	FASTA	578	64,753
	10 20 30 40 50 60 MPFRLLIPLG LLCALLPQHH GAPGPDGSAP DPAHYRERVK AMFYHAYDSY LENAFPFDEL 70 80 90 100 110 120 RPLTCDGHDT WGSFSLTLID ALDTLLILGN VSEFQRVVEV LQDSVDFDID VNASVFETNI 130 140 150 160 170 180 RVVGGLLSAH LLSKKAGVEV EAGWPCSGPL LRMAEEAARK LLPAFQTPTG MPYGTVNLLH 190 200 210 220 230 240 GVNPGETPVT CTAGIGTFIV EFATLSSLTG DPVFEDVARV ALMRLWESRS DIGLVGNHID 250 260 270 280 290 300 VLTGKWVAQD AGIGAGVDSY FEYLVKGAIL LQDKKLMAMF LEYNKAIRNY TRFDDWYLWV 310 320 330 340 350 360 QMYKGTVSMP VFQSLEAYWP GLQSLIGDID NAMRTFLNYY TVWKQFGGLP EFYNIPQGYT 370 380 390 400 410 420 VEKREGYPLR PELIESAMYL YRATGDPTLL ELGRDAVESI EKISKVECGF ATIKDLRDHK 430 440 450 460 470 480 LDNRMESFFL AETVKYLYLL FDPTNFIHNN GSTFDAVITP YGECILGAGG YIFNTEAHPI 490 500 510 520 530 540 DPAALHCCQR LKEEQWEVED LMREFYSLKR SRSKFQKNTV SSGPWEPPAR PGTLFSPENH 550 560 570 DQARERKPAK QKVPLLSCPS QPFTSKLALL GQVFLDSS
	Isoform 2 [UniParc]. Checksum: D85677AE92855D34	FASTA	541	60,319
	10 20 30 40 50 60 MPFRLLIPLG LLCALLPQHH GAPGPDGSAP DPAHYSFSLT LIDALDTLLI LGNVSEFQRV 70 80 90 100 110 120 VEVLQDSVDF DIDVNASVFE TNIRVVGGLL SAHLLSKKAG VEVEAGWPCS GPLLRMAEEA 130 140 150 160 170 180 ARKLLPAFQT PTGMPYGTVN LLHGVNPGET PVTCTAGIGT FIVEFATLSS LTGDPVFEDV 190 200 210 220 230 240 ARVALMRLWE SRSDIGLVGN HIDVLTGKWV AQDAGIGAGV DSYFEYLVKG AILLQDKKLM 250 260 270 280 290 300 AMFLEYNKAI RNYTRFDDWY LWVQMYKGTV SMPVFQSLEA YWPGLQSLIG DIDNAMRTFL 310 320 330 340 350 360 NYYTVWKQFG GLPEFYNIPQ GYTVEKREGY PLRPELIESA MYLYRATGDP TLLELGRDAV 370 380 390 400 410 420 ESIEKISKVE CGFATIKDLR DHKLDNRMES FFLAETVKYL YLLFDPTNFI HNNGSTFDAV 430 440 450 460 470 480 ITPYGECILG AGGYIFNTEA HPIDPAALHC CQRLKEEQWE VEDLMREFYS LKRSRSKFQK 490 500 510 520 530 540 NTVSSGPWEP PARPGTLFSP ENHDQARERK PAKQKVPLLS CPSQPFTSKL ALLGQVFLDS S

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Placenta and Thyroid.
[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: 12975309] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[3]	"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[4]	"The DNA sequence and comparative analysis of human chromosome 20." Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J. Nature 414:865-871(2001) [PubMed: 11780052] [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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT THR-456. Tissue: Colon and Skin.
[7]	"Human EDEM2, a novel homolog of family 47 glycosidases, is involved in ER-associated degradation of glycoproteins." Mast S.W., Diekman K., Karaveg K., Davis A., Sifers R.N., Moremen K.W. Glycobiology 15:421-436(2005) [PubMed: 15537790] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, GLYCOSYLATION.
[8]	"A novel stress-induced EDEM variant regulating endoplasmic reticulum-associated glycoprotein degradation." Olivari S., Galli C., Alanen H., Ruddock L., Molinari M. J. Biol. Chem. 280:2424-2428(2005) [PubMed: 15579471] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, INDUCTION.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK001645 mRNA. Translation: BAA91806.1. AK023931 mRNA. Translation: BAB14731.1. AK300212 mRNA. Translation: BAG61981.1. AY358580 mRNA. Translation: AAQ88943.1. CR457266 mRNA. Translation: CAG33547.1. AL135844, AL356652 Genomic DNA. Translation: CAI19292.1. AL356652, AL135844 Genomic DNA. Translation: CAH73763.1. CH471077 Genomic DNA. Translation: EAW76228.1. BC001371 mRNA. Translation: AAH01371.1. BC016184 mRNA. Translation: AAH16184.1.
IPI	IPI00306178. IPI00432424.
RefSeq	NP_001138497.1. NM_001145025.1. NP_060687.2. NM_018217.2.
UniGene	Hs.720177.
3D structure databases
ProteinModelPortal	Q9BV94.
SMR	Q9BV94. Positions 25-482.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9BV94. 1 interaction.
MINT	MINT-1379444.
STRING	Q9BV94.
Protein family/group databases
CAZy	GH47. Glycoside Hydrolase Family 47.
Polymorphism databases
DMDM	17368685.
Proteomic databases
PRIDE	Q9BV94.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000374492; ENSP00000363616; ENSG00000088298.
GeneID	55741.
KEGG	hsa:55741.
UCSC	uc002xbn.1. human. uc002xbo.1. human.
Organism-specific databases
CTD	55741.
GeneCards	GC20M033703.
HGNC	HGNC:15877. EDEM2.
HPA	CAB037238.
MIM	610302. gene.
neXtProt	NX_Q9BV94.
PharmGKB	PA25747.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG14174.
GeneTree	ENSGT00530000063069.
HOVERGEN	HBG051158.
InParanoid	Q9BV94.
OMA	DPAHYRE.
OrthoDB	EOG47SSDM.
PhylomeDB	Q9BV94.
Enzyme and pathway databases
Reactome	REACT_17015. Metabolism of proteins.
Gene expression databases
ArrayExpress	Q9BV94.
Bgee	Q9BV94.
CleanEx	HS_EDEM2.
Genevestigator	Q9BV94.
GermOnline	ENSG00000088298. Homo sapiens.
Family and domain databases
InterPro	IPR001382. Glyco_hydro_47. [Graphical view]
Gene3D	G3DSA:1.50.10.50. Glyco_hydro_47. 1 hit.
KO	K10085.
PANTHER	PTHR11742. Glyco_hydro_47. 1 hit.
Pfam	PF01532. Glyco_hydro_47. 1 hit. [Graphical view]
PRINTS	PR00747. GLYHDRLASE47.
SUPFAM	SSF48225. Glyco_hydro_47. 1 hit.
ProtoNet	Search...
Other
NextBio	60699.
SOURCE	Search...

Entry information

Entry name

EDEM2_HUMAN

Accession

Primary (citable) accession number: Q9BV94
Secondary accession number(s): B4DTG9 , Q6GU33, Q6IA89, Q6UWZ4, Q9H4U0, Q9H886, Q9NTL9, Q9NVE6

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 16, 2001
Last sequence update:	November 16, 2001
Last modified:	January 25, 2012
This is version 100 of the entry and version 2 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.