Q96IJ6 (GMPPA_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Mannose-1-phosphate guanyltransferase alpha
EC=2.7.7.13

Alternative name(s):
GDP-mannose pyrophosphorylase A
GTP-mannose-1-phosphate guanylyltransferase alpha

Gene names

Name:

GMPPA

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	420 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Catalytic activity	GTP + alpha-D-mannose 1-phosphate = diphosphate + GDP-mannose.
Pathway	Nucleotide-sugar biosynthesis; GDP-alpha-D-mannose biosynthesis; GDP-alpha-D-mannose from alpha-D-mannose 1-phosphate (GTP route): step 1/1.
Sequence similarities	Belongs to the transferase hexapeptide repeat family.
Sequence caution	The sequence AAD38517.1 differs from that shown. Reason: Frameshift at position 355.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	GTP-binding Nucleotide-binding
Molecular function	Nucleotidyltransferase Transferase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	GDP-mannose biosynthetic process Traceable author statement. Source: Reactome dolichol-linked oligosaccharide biosynthetic process Traceable author statement. Source: Reactome post-translational protein modification Traceable author statement. Source: Reactome protein N-linked glycosylation via asparagine Traceable author statement. Source: Reactome
Molecular function	GTP binding Inferred from electronic annotation. Source: UniProtKB-KW mannose-1-phosphate guanylyltransferase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Alternative products

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

Isoform 1 (identifier: Q96IJ6-1)

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: Q96IJ6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     285-285: G → GTQPAPIPNLWLPPQPSEPGFLTSSPELKPQSLPLPDQIRFGIFAPRASLLLLG

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 420	420	Mannose-1-phosphate guanyltransferase alpha		PRO_0000327872
Natural variations
	Alternative sequence	285	1	G → GTQPAPIPNLWLPPQPSEPG FLTSSPELKPQSLPLPDQIR FGIFAPRASLLLLG in isoform 2.		VSP_032741
	Natural variant	21	1	S → F. Corresponds to variant rs34218609 [ dbSNP | Ensembl ].		VAR_042434
	Natural variant	156	1	V → A. Corresponds to variant rs13396066 [ dbSNP | Ensembl ].		VAR_042435
Experimental info
	Sequence conflict	57	1	G → C in BAD96671. Ref.3
	Sequence conflict	67	1	Q → H in BAF83360. Ref.2
	Sequence conflict	118	1	C → Y in BAA91460. Ref.2
	Sequence conflict	339	1	S → C in AAD38517. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: 741B77ABA198D4BC	FASTA	420	46,291
	10 20 30 40 50 60 MLKAVILIGG PQKGTRFRPL SFEVPKPLFP VAGVPMIQHH IEACAQVPGM QEILLIGFYQ 70 80 90 100 110 120 PDEPLTQFLE AAQQEFNLPV RYLQEFAPLG TGGGLYHFRD QILAGSPEAF FVLNADVCSD 130 140 150 160 170 180 FPLSAMLEAH RRQRHPFLLL GTTANRTQSL NYGCIVENPQ THEVLHYVEK PSTFISDIIN 190 200 210 220 230 240 CGIYLFSPEA LKPLRDVFQR NQQDGQLEDS PGLWPGAGTI RLEQDVFSAL AGQGQIYVHL 250 260 270 280 290 300 TDGIWSQIKS AGSALYASRL YLSRYQDTHP ERLAKHTPGG PWIRGNVYIH PTAKVAPSAV 310 320 330 340 350 360 LGPNVSIGKG VTVGEGVRLR ESIVLHGATL QEHTCVLHSI VGWGSTVGRW ARVEGTPSDP 370 380 390 400 410 420 NPNDPRARMD SESLFKDGKL LPAITILGCR VRIPAEVLIL NSIVLPHKEL SRSFTNQIIL
	Isoform 2 [UniParc]. Checksum: 0F283DF3FEA4C6E9	FASTA	473	52,018
	10 20 30 40 50 60 MLKAVILIGG PQKGTRFRPL SFEVPKPLFP VAGVPMIQHH IEACAQVPGM QEILLIGFYQ 70 80 90 100 110 120 PDEPLTQFLE AAQQEFNLPV RYLQEFAPLG TGGGLYHFRD QILAGSPEAF FVLNADVCSD 130 140 150 160 170 180 FPLSAMLEAH RRQRHPFLLL GTTANRTQSL NYGCIVENPQ THEVLHYVEK PSTFISDIIN 190 200 210 220 230 240 CGIYLFSPEA LKPLRDVFQR NQQDGQLEDS PGLWPGAGTI RLEQDVFSAL AGQGQIYVHL 250 260 270 280 290 300 TDGIWSQIKS AGSALYASRL YLSRYQDTHP ERLAKHTPGG PWIRGTQPAP IPNLWLPPQP 310 320 330 340 350 360 SEPGFLTSSP ELKPQSLPLP DQIRFGIFAP RASLLLLGNV YIHPTAKVAP SAVLGPNVSI 370 380 390 400 410 420 GKGVTVGEGV RLRESIVLHG ATLQEHTCVL HSIVGWGSTV GRWARVEGTP SDPNPNDPRA 430 440 450 460 470 RMDSESLFKD GKLLPAITIL GCRVRIPAEV LILNSIVLPH KELSRSFTNQ IIL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Human homolog of GDP-mannose pyrophosphorylase." Matthijs G., Schollen E., Dierickx D. Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]	"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] (ISOFORM 1). Tissue: Embryo.
[3]	Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Kidney.
[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: 15815621] [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 (JUL-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]. Tissue: Lymph.
[7]	"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.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF135422 mRNA. Translation: AAD38517.1. Frameshift. AK000999 mRNA. Translation: BAA91460.1. AK022578 mRNA. Translation: BAG51096.1. AK290671 mRNA. Translation: BAF83360.1. AK222951 mRNA. Translation: BAD96671.1. AC053503 Genomic DNA. Translation: AAY15053.1. CH471063 Genomic DNA. Translation: EAW70755.1. CH471063 Genomic DNA. Translation: EAW70759.1. BC007456 mRNA. Translation: AAH07456.1.
IPI	IPI00101782. IPI00657888.
RefSeq	NP_037467.2. NM_013335.3. NP_995319.1. NM_205847.2.
UniGene	Hs.27059.
3D structure databases
ProteinModelPortal	Q96IJ6.
SMR	Q96IJ6. Positions 3-119, 287-362, 366-400.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q96IJ6. 3 interactions.
MINT	MINT-3053969.
STRING	Q96IJ6.
Polymorphism databases
DMDM	74732065.
Proteomic databases
PRIDE	Q96IJ6.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000313597; ENSP00000315925; ENSG00000144591. ENST00000341142; ENSP00000340760; ENSG00000144591. ENST00000358215; ENSP00000350949; ENSG00000144591. ENST00000373908; ENSP00000363016; ENSG00000144591.
GeneID	29926.
KEGG	hsa:29926.
UCSC	uc002vlr.1. human. uc002vlt.1. human.
Organism-specific databases
CTD	29926.
GeneCards	GC02P220327.
HGNC	HGNC:22923. GMPPA.
HPA	HPA035513.
neXtProt	NX_Q96IJ6.
PharmGKB	PA134925506.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG10047.
GeneTree	ENSGT00530000063581.
HOVERGEN	HBG059531.
OMA	PFAKMDN.
OrthoDB	EOG4SXNCG.
PhylomeDB	Q96IJ6.
Enzyme and pathway databases
Reactome	REACT_17015. Metabolism of proteins.
Gene expression databases
ArrayExpress	Q96IJ6.
Bgee	Q96IJ6.
CleanEx	HS_GMPPA.
Genevestigator	Q96IJ6.
Family and domain databases
InterPro	IPR001451. Hexapep_transf. IPR018357. Hexapep_transf_CS. IPR005835. NTP_transferase. [Graphical view]
KO	K00966.
Pfam	PF00132. Hexapep. 1 hit. PF00483. NTP_transferase. 1 hit. [Graphical view]
PROSITE	PS00101. HEXAPEP_TRANSFERASES. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	52545.

Entry information

Entry name

GMPPA_HUMAN

Accession

Primary (citable) accession number: Q96IJ6
Secondary accession number(s): A6NJ74 , A8K3Q6, B3KMT4, Q53GI0, Q9NWC3, Q9Y5P5

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 8, 2008
Last sequence update:	December 1, 2001
Last modified:	January 25, 2012
This is version 79 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.