Q9BZQ6 (EDEM3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
ER degradation-enhancing alpha-mannosidase-like protein 3
EC=3.2.1.113

Alternative name(s):
Alpha-1,2-mannosidase EDEM3

Gene names

Name:	EDEM3
Synonyms:	C1orf22

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	932 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). Accelerates the glycoprotein ERAD by proteasomes. This process depends on mannose-trimming from the N-glycans. Seems to have alpha 1,2-mannosidase activity By similarity.
Catalytic activity	Hydrolysis of the terminal (1->2)-linked alpha-D-mannose residues in the oligo-mannose oligosaccharide Man9(GlcNAc)2.
Subcellular location	Endoplasmic reticulum lumen By similarity.
Domain	Contains a protease-associated domain (PA) of unknown function.
Sequence similarities	Belongs to the glycosyl hydrolase 47 family. Contains 1 PA (protease associated) domain.
Sequence caution	The sequence AAG60613.1 differs from that shown. Reason: Erroneous initiation. The sequence BAG37573.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Unfolded protein response
Cellular component	Endoplasmic reticulum
Coding sequence diversity	Polymorphism
Domain	Signal
Molecular function	Hydrolase
PTM	Glycoprotein Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	glycoprotein catabolic process Inferred from electronic annotation. Source: Compara post-translational protein modification Traceable author statement. Source: Reactome proteasomal ubiquitin-dependent protein catabolic process Inferred from electronic annotation. Source: Compara 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
Molecular_function	calcium ion binding Inferred from electronic annotation. Source: InterPro glycoprotein endo-alpha-1,2-mannosidase activity Inferred from electronic annotation. Source: Compara mannosyl-oligosaccharide 1,2-alpha-mannosidase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 41	41	Potential
	Chain	42 – 932	891	ER degradation-enhancing alpha-mannosidase-like protein 3		PRO_0000210323
Regions
	Domain	674 – 779	106	PA
	Motif	929 – 932	4	Prevents secretion from ER Potential
Sites
	Active site	146	1	Proton donor By similarity
	Active site	293	1	By similarity
	Active site	405	1	By similarity
Amino acid modifications
	Modified residue	303	1	Phosphotyrosine By similarity
	Modified residue	310	1	Phosphoserine By similarity
	Glycosylation	118	1	N-linked (GlcNAc...) Potential
	Glycosylation	195	1	N-linked (GlcNAc...) Ref.6
	Glycosylation	504	1	N-linked (GlcNAc...) Potential
	Glycosylation	511	1	N-linked (GlcNAc...) Potential
	Glycosylation	810	1	N-linked (GlcNAc...) Potential
	Glycosylation	814	1	N-linked (GlcNAc...) Potential
	Glycosylation	900	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	820	1	I → S. Ref.5 Corresponds to variant rs9425343 [ dbSNP | Ensembl ].		VAR_059306
Experimental info
	Sequence conflict	276	1	I → T in BAG37573. Ref.1
	Sequence conflict	318 – 319	2	HY → VS in AAI05587. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Q9BZQ6 [UniParc]. Last modified February 5, 2008. Version 2. Checksum: 3C040FDF48284D36	FASTA	932	104,664
	10 20 30 40 50 60 MSEAGGRGCG SPVPQRARWR LVAATAAFCL VSATSVWTAG AEPMSREEKQ KLGNQVLEMF 70 80 90 100 110 120 DHAYGNYMEH AYPADELMPL TCRGRVRGQE PSRGDVDDAL GKFSLTLIDS LDTLVVLNKT 130 140 150 160 170 180 KEFEDAVRKV LRDVNLDNDV VVSVFETNIR VLGGLLGGHS LAIMLKEKGE YMQWYNDELL 190 200 210 220 230 240 QMAKQLGYKL LPAFNTTSGL PYPRINLKFG IRKPEARTGT ETDTCTACAG TLILEFAALS 250 260 270 280 290 300 RFTGATIFEE YARKALDFLW EKRQRSSNLV GVTINIHTGD WVRKDSGVGA GIDSYYEYLL 310 320 330 340 350 360 KAYVLLGDDS FLERFNTHYD AIMRYISQPP LLLDVHIHKP MLNARTWMDA LLAFFPGLQV 370 380 390 400 410 420 LKGDIRPAIE THEMLYQVIK KHNFLPEAFT TDFRVHWAQH PLRPEFAEST YFLYKATGDP 430 440 450 460 470 480 YYLEVGKTLI ENLNKYARVP CGFAAMKDVR TGSHEDRMDS FFLAEMFKYL YLLFADKEDI 490 500 510 520 530 540 IFDIEDYIFT TEAHLLPLWL STTNQSISKK NTTSEYTELD DSNFDWTCPN TQILFPNDPL 550 560 570 580 590 600 YAQSIREPLK NVVDKSCPRG IIRVEESFRS GAKPPLRARD FMATNPEHLE ILKKMGVSLI 610 620 630 640 650 660 HLKDGRVQLV QHAIQAASSI DAEDGLRFMQ EMIELSSQQQ KEQQLPPRAV QIVSHPFFGR 670 680 690 700 710 720 VVLTAGPAQF GLDLSKHKET RGFVASSKPS NGCSELTNPE AVMGKIALIQ RGQCMFAEKA 730 740 750 760 770 780 RNIQNAGAIG GIVIDDNEGS SSDTAPLFQM AGDGKDTDDI KIPMLFLFSK EGSIILDAIR 790 800 810 820 830 840 EYEEVEVLLS DKAKDRDPEM ENEEQPSSEN DSQNQSGEQI SSSSQEVDLV DQESSEENSL 850 860 870 880 890 900 NSHPESLSLA DMDNAASISP SEQTSNPTEN HETTNLNGEC TDLDNQLQEQ SETEEDSNPN 910 920 930 VSWGKKVQPI DSILADWNED IEAFEMMEKD EL

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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Placenta.
[2]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus." Sood R., Bonner T.I., Malakowska I., Stephan D.A., Robbins C.M., Connors T.D., Morgenbesser S.D., Su K., Faruque M.U., Pinkett H., Graham C., Baxevanis A.D., Klinger K.W., Landes G.M., Trent J.M., Carpten J.D. Genomics 73:211-222(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 27-932.
[4]	"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] OF 78-319. Tissue: Lung.
[5]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 553-932, VARIANT SER-820. Tissue: Testis.
[6]	"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] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-195, MASS SPECTROMETRY. Tissue: Liver.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK315118 mRNA. Translation: BAG37573.1. Different initiation. AL096819 Genomic DNA. Translation: CAI21741.1. AF288393 mRNA. Translation: AAG60613.1. Different initiation. BC105586 mRNA. Translation: AAI05587.1. AL117441 mRNA. Translation: CAB55926.1.
IPI	IPI00009410.
PIR	T17236.
RefSeq	NP_079467.3. NM_025191.3.
UniGene	Hs.523811.
3D structure databases
ProteinModelPortal	Q9BZQ6.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9BZQ6. 2 interactions.
STRING	9606.ENSP00000318147.
Protein family/group databases
CAZy	GH47. Glycoside Hydrolase Family 47.
PTM databases
PhosphoSite	Q9BZQ6.
Polymorphism databases
DMDM	166897965.
Proteomic databases
PaxDb	Q9BZQ6.
PRIDE	Q9BZQ6.
Protocols and materials databases
DNASU	80267.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000318130; ENSP00000318147; ENSG00000116406.
GeneID	80267.
KEGG	hsa:80267.
UCSC	uc010pok.2. human.
Organism-specific databases
CTD	80267.
GeneCards	GC01M184659.
H-InvDB	HIX0001417.
HGNC	HGNC:16787. EDEM3.
HPA	HPA025754. HPA025755.
MIM	610214. gene.
neXtProt	NX_Q9BZQ6.
PharmGKB	PA38186.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG307610.
HOGENOM	HOG000007735.
HOVERGEN	HBG107835.
InParanoid	Q9BZQ6.
KO	K10086.
OMA	ARNIQKA.
OrthoDB	EOG4SXNBW.
Enzyme and pathway databases
Reactome	REACT_17015. Metabolism of proteins.
Gene expression databases
ArrayExpress	Q9BZQ6.
Bgee	Q9BZQ6.
CleanEx	HS_EDEM3.
Genevestigator	Q9BZQ6.
GermOnline	ENSG00000116406. Homo sapiens.
Family and domain databases
Gene3D	1.50.10.50. 1 hit.
InterPro	IPR001382. Glyco_hydro_47. IPR003137. Protease-assoc_domain. [Graphical view]
PANTHER	PTHR11742. PTHR11742. 1 hit.
Pfam	PF01532. Glyco_hydro_47. 1 hit. PF02225. PA. 1 hit. [Graphical view]
PRINTS	PR00747. GLYHDRLASE47.
SUPFAM	SSF48225. Glyco_hydro_47. 1 hit.
PROSITE	PS00014. ER_TARGET. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	EDEM3. human.
GenomeRNAi	80267.
NextBio	70729.
SOURCE	Search...

Entry information

Entry name

EDEM3_HUMAN

Accession

Primary (citable) accession number: Q9BZQ6
Secondary accession number(s): B2RCH6 , Q0VGM5, Q5TEZ0, Q9HCW1, Q9UFV7

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 16, 2001
Last sequence update:	February 5, 2008
Last modified:	May 1, 2013
This is version 97 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.