Q9Y2E5 (MA2B2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Epididymis-specific alpha-mannosidase
EC=3.2.1.24

Alternative name(s):
Mannosidase alpha class 2B member 2

Gene names

Name:	MAN2B2
Synonyms:	KIAA0935

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	1009 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)

Catalytic activity	Hydrolysis of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides.
Cofactor	Binds 1 zinc ion per subunit By similarity.
Subcellular location	Secreted Potential.
Sequence similarities	Belongs to the glycosyl hydrolase 38 family.

Ontologies

Keywords
Cellular component	Secreted
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal
Ligand	Metal-binding Zinc
Molecular function	Glycosidase Hydrolase
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	mannose metabolic process Inferred from electronic annotation. Source: Compara
Cellular_component	extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell lysosome Inferred from electronic annotation. Source: Compara
Molecular_function	alpha-mannosidase activity Inferred from electronic annotation. Source: EC carbohydrate binding Inferred from electronic annotation. Source: InterPro zinc ion binding 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: Q9Y2E5-1)

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: Q9Y2E5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     939-1009: AVLQALGSVV...RTFFIHFQQQ → VNFPTPIQTISQGSKP

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 23	23	Potential
	Chain	24 – 1009	986	Epididymis-specific alpha-mannosidase		PRO_0000012077
Sites
	Active site	151	1	Nucleophile By similarity
	Metal binding	36	1	Zinc By similarity
	Metal binding	38	1	Zinc By similarity
	Metal binding	151	1	Zinc By similarity
	Metal binding	420	1	Zinc By similarity
Amino acid modifications
	Glycosylation	226	1	N-linked (GlcNAc...) Potential
	Glycosylation	249	1	N-linked (GlcNAc...) Potential
	Glycosylation	294	1	N-linked (GlcNAc...) Potential
	Glycosylation	336	1	N-linked (GlcNAc...) Potential
	Glycosylation	516	1	N-linked (GlcNAc...) Ref.6
	Glycosylation	608	1	N-linked (GlcNAc...) Potential
	Glycosylation	670	1	N-linked (GlcNAc...) Potential
	Glycosylation	675	1	N-linked (GlcNAc...) Potential
	Glycosylation	748	1	N-linked (GlcNAc...) Potential
	Glycosylation	808	1	N-linked (GlcNAc...) Potential
	Glycosylation	812	1	N-linked (GlcNAc...) Potential
	Glycosylation	890	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	939 – 1009	71	AVLQA…HFQQQ → VNFPTPIQTISQGSKP in isoform 2.		VSP_013816
	Natural variant	243	1	Q → P. Ref.3 Ref.4 Corresponds to variant rs2301796 [ dbSNP | Ensembl ].		VAR_025328
	Natural variant	320	1	V → M. Ref.1 Corresponds to variant rs2301795 [ dbSNP | Ensembl ].		VAR_025329
	Natural variant	365	1	R → C. Corresponds to variant rs6858328 [ dbSNP | Ensembl ].		VAR_055840
	Natural variant	446	1	M → V. Ref.3 Ref.4 Corresponds to variant rs2301790 [ dbSNP | Ensembl ].		VAR_025330
	Natural variant	541	1	N → S. Ref.3 Ref.4 Corresponds to variant rs2301788 [ dbSNP | Ensembl ].		VAR_025331
Experimental info
	Sequence conflict	79	1	F → S in CAD89971. Ref.1
	Sequence conflict	938	1	E → Q in CAD89971. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 18, 2010. Version 4. Checksum: 21BB879400E0F387	FASTA	1,009	113,979
	10 20 30 40 50 60 MGQLCWLPLL APLLLLRPPG VQSAGPIRAF VVPHSHMDVG WVYTVQESMR AYAANVYTSV 70 80 90 100 110 120 VEELARGQQR RFIAVEQEFF RLWWDGVASD QQKYQVRQLL EEGRLEFVIG GQVMHDEAVT 130 140 150 160 170 180 HLDDQILQLT EGHGFLYETF GIRPQFSWHV DPFGASATTP TLFALAGFNA HLGSRIDYDL 190 200 210 220 230 240 KAAMQEARGL QFVWRGSPSL SERQEIFTHI MDQYSYCTPS HIPFSNRSGF YWNGVAVFPK 250 260 270 280 290 300 PPQDGVYPNM SEPVTPANIN LYAEALVANV KQRAAWFRTP HVLWPWGCDK QFFNASVQFA 310 320 330 340 350 360 NMDPLLDHIN SHAAELGVSV QYATLGDYFR ALHALNVTWR VRDHHDFLPY STEPFQAWTG 370 380 390 400 410 420 FYTSRSSLKG LARRASALLY AGESMFTRYL WPAPRGHLDP TWALQQLQQL RWAVSEVQHH 430 440 450 460 470 480 DAITGTESPK VRDMYATHLA SGMLGMRKLM ASIVLDELQP QAPMAASSDA GPAGHFASVY 490 500 510 520 530 540 NPLAWTVTTI VTLTVGFPGV RVTDEAGHPV PSQIQNSTET PSAYDLLILT TIPGLSYRHY 550 560 570 580 590 600 NIRPTAGAQE GTQEPAATVA STLQFGRRLR RRTSHAGRYL VPVANDCYIV LLDQDTNLMH 610 620 630 640 650 660 SIWERQSNRT VRVTQEFLEY HVNGDVKQGP ISDNYLFTPG KAAVPAWEAV EMEIVAGQLV 670 680 690 700 710 720 TEIRQYFYRN MTAQNYTYAI RSRLTHVPQG HDGELLCHRI EQEYQAGPLE LNREAVLRTS 730 740 750 760 770 780 TNLNSQQVIY SDNNGYQMQR RPYVSYVNNS IARNYYPMVQ SAFMEDGKSR LVLLSERAHG 790 800 810 820 830 840 ISSQGNGQVE VMLHRRLWNN FDWDLGYNLT LNDTSVVHPV LWLLLGSWSL TTALRQRSAL 850 860 870 880 890 900 ALQHRPVVLF GDLAGTAPKL PGPQQQEAVT LPPNLHLQIL SIPGWRYSSN HTEHSQNLRK 910 920 930 940 950 960 GHRGEAQADL RRVLLRLYHL YEVGEDPVLS QPVTVNLEAV LQALGSVVAV EERSLTGTWD 970 980 990 1000 LSMLHRWSWR TGPGRHRGDT TSPSRPPGGP IITVHPKEIR TFFIHFQQQ
	Isoform 2 [UniParc]. Checksum: 9EF3191B5AA34B4F	FASTA	954	107,704
	10 20 30 40 50 60 MGQLCWLPLL APLLLLRPPG VQSAGPIRAF VVPHSHMDVG WVYTVQESMR AYAANVYTSV 70 80 90 100 110 120 VEELARGQQR RFIAVEQEFF RLWWDGVASD QQKYQVRQLL EEGRLEFVIG GQVMHDEAVT 130 140 150 160 170 180 HLDDQILQLT EGHGFLYETF GIRPQFSWHV DPFGASATTP TLFALAGFNA HLGSRIDYDL 190 200 210 220 230 240 KAAMQEARGL QFVWRGSPSL SERQEIFTHI MDQYSYCTPS HIPFSNRSGF YWNGVAVFPK 250 260 270 280 290 300 PPQDGVYPNM SEPVTPANIN LYAEALVANV KQRAAWFRTP HVLWPWGCDK QFFNASVQFA 310 320 330 340 350 360 NMDPLLDHIN SHAAELGVSV QYATLGDYFR ALHALNVTWR VRDHHDFLPY STEPFQAWTG 370 380 390 400 410 420 FYTSRSSLKG LARRASALLY AGESMFTRYL WPAPRGHLDP TWALQQLQQL RWAVSEVQHH 430 440 450 460 470 480 DAITGTESPK VRDMYATHLA SGMLGMRKLM ASIVLDELQP QAPMAASSDA GPAGHFASVY 490 500 510 520 530 540 NPLAWTVTTI VTLTVGFPGV RVTDEAGHPV PSQIQNSTET PSAYDLLILT TIPGLSYRHY 550 560 570 580 590 600 NIRPTAGAQE GTQEPAATVA STLQFGRRLR RRTSHAGRYL VPVANDCYIV LLDQDTNLMH 610 620 630 640 650 660 SIWERQSNRT VRVTQEFLEY HVNGDVKQGP ISDNYLFTPG KAAVPAWEAV EMEIVAGQLV 670 680 690 700 710 720 TEIRQYFYRN MTAQNYTYAI RSRLTHVPQG HDGELLCHRI EQEYQAGPLE LNREAVLRTS 730 740 750 760 770 780 TNLNSQQVIY SDNNGYQMQR RPYVSYVNNS IARNYYPMVQ SAFMEDGKSR LVLLSERAHG 790 800 810 820 830 840 ISSQGNGQVE VMLHRRLWNN FDWDLGYNLT LNDTSVVHPV LWLLLGSWSL TTALRQRSAL 850 860 870 880 890 900 ALQHRPVVLF GDLAGTAPKL PGPQQQEAVT LPPNLHLQIL SIPGWRYSSN HTEHSQNLRK 910 920 930 940 950 GHRGEAQADL RRVLLRLYHL YEVGEDPVLS QPVTVNLEVN FPTPIQTISQ GSKP

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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] (ISOFORM 1), VARIANT MET-320. Tissue: Spinal cord.
[2]	"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].
[3]	"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] (ISOFORM 1), VARIANTS PRO-243; VAL-446 AND SER-541. Tissue: Brain.
[4]	"Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 6:63-70(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 3-1009 (ISOFORM 2), VARIANTS PRO-243; VAL-446 AND SER-541. Tissue: Brain.
[5]	Ohara O., Nagase T., Kikuno R. Submitted (AUG-2005) to the EMBL/GenBank/DDBJ databases Cited for: SEQUENCE REVISION.
[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-516, MASS SPECTROMETRY. Tissue: Liver.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AL833071 mRNA. Translation: CAD89971.1. AC004480 Genomic DNA. No translation available. BC033307 mRNA. Translation: AAH33307.1. AB023152 mRNA. Translation: BAA76779.2.
IPI	IPI00328488. IPI00604401.
RefSeq	NP_056089.1. NM_015274.1.
UniGene	Hs.188464.
3D structure databases
ProteinModelPortal	Q9Y2E5.
SMR	Q9Y2E5. Positions 27-818.
ModBase	Search...
Protein family/group databases
CAZy	GH38. Glycoside Hydrolase Family 38.
PTM databases
PhosphoSite	Q9Y2E5.
Polymorphism databases
DMDM	296439484.
Proteomic databases
PaxDb	Q9Y2E5.
PRIDE	Q9Y2E5.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000285599; ENSP00000285599; ENSG00000013288.
GeneID	23324.
KEGG	hsa:23324.
UCSC	uc003gje.1. human. uc003gjf.1. human.
Organism-specific databases
CTD	23324.
GeneCards	GC04P006509.
H-InvDB	HIX0200620.
HGNC	HGNC:29623. MAN2B2.
HPA	HPA037005.
neXtProt	NX_Q9Y2E5.
PharmGKB	PA128394625.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG306356.
HOGENOM	HOG000113450.
HOVERGEN	HBG052392.
InParanoid	Q9Y2E5.
KO	K12312.
OMA	SDNYLFT.
OrthoDB	EOG4DJJVQ.
PhylomeDB	Q9Y2E5.
Gene expression databases
ArrayExpress	Q9Y2E5.
Bgee	Q9Y2E5.
CleanEx	HS_MAN2B2.
Genevestigator	Q9Y2E5.
GermOnline	ENSG00000013288. Homo sapiens.
Family and domain databases
Gene3D	2.60.40.1180. 1 hit. 3.20.110.10. 1 hit.
InterPro	IPR011013. Gal_mutarotase_SF_dom. IPR011330. Glyco_hydro/deAcase_b/a-brl. IPR013780. Glyco_hydro_13_b. IPR027291. Glyco_hydro_38/57_N. IPR011682. Glyco_hydro_38_C. IPR015341. Glyco_hydro_38_cen_dom. IPR000602. Glyco_hydro_38_N. [Graphical view]
Pfam	PF09261. Alpha-mann_mid. 1 hit. PF01074. Glyco_hydro_38. 1 hit. PF07748. Glyco_hydro_38C. 1 hit. [Graphical view]
SMART	SM00872. Alpha-mann_mid. 1 hit. [Graphical view]
SUPFAM	SSF74650. Gal_mut_like. 1 hit. SSF88713. Glyco_hydro/deAcase_b/a-brl. 1 hit.
ProtoNet	Search...
Other
ChEMBL	CHEMBL2682.
ChiTaRS	MAN2B2. human.
GenomeRNAi	23324.
NextBio	45224.

Entry information

Entry name

MA2B2_HUMAN

Accession

Primary (citable) accession number: Q9Y2E5
Secondary accession number(s): Q66MP2, Q86T67

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 16, 2001
Last sequence update:	May 18, 2010
Last modified:	May 1, 2013
This is version 107 of the entry and version 4 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.