Q9UJJ9 (GNPTG_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
N-acetylglucosamine-1-phosphotransferase subunit gamma

Alternative name(s):
GlcNAc-1-phosphotransferase subunit gamma
UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma

Gene names

Name:	GNPTG
Synonyms:	C16orf27, GNPTAG
ORF Names:	CAB56184, LP2537

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	305 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	May recognize the substrate of GlcNAc-1-phosphotransferase but also the lysosomal proteins with mannose-6-phosphate residues. Ref.1
Subunit structure	Hexamer of two alpha, two beta and two gamma subunit; disulfide-linked. It is believed that the alpha and/or the beta subunit of the enzyme contain the catalytic portion and that the gamma subunit functions in recognition of the lysosomal enzymes. Ref.1
Subcellular location	Secreted By similarity. Golgi apparatus By similarity.
Tissue specificity	Widely expressed. Ref.1
Involvement in disease	Mucolipidosis type III complementation group C (MLIIIC) [MIM:252605]: Autosomal recessive disease of lysosomal hydrolase trafficking. Unlike the related diseases, mucolipidosis II and IIIA, the enzyme affected in mucolipidosis IIIC (GlcNAc-phosphotransferase) retains full transferase activity on synthetic substrates but lacks activity on lysosomal hydrolases. Typical clinical findings include stiffness of the hands and shoulders, claw-hand deformity, scoliosis, short stature, coarse facies, and mild mental retardation. Radiographically, severe dysostosis multiplex of the hip is characteristic and frequently disabling. The clinical diagnosis can be confirmed by finding elevated serum lysosomal enzyme levels and/or decreased lysosomal enzyme levels in cultured fibroblasts. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1
Sequence similarities	Contains 1 PRKCSH domain.
Sequence caution	The sequence AAP34456.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Cellular component	Golgi apparatus Secreted
Disease	Mucolipidosis
Domain	Signal
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	Golgi apparatus Inferred from electronic annotation. Source: UniProtKB-SubCell extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 24	24	Potential
	Chain	25 – 305	281	N-acetylglucosamine-1-phosphotransferase subunit gamma		PRO_0000019577
Regions
	Domain	69 – 126	58	PRKCSH
Amino acid modifications
	Glycosylation	88	1	N-linked (GlcNAc...) Potential
	Glycosylation	115	1	N-linked (GlcNAc...) Potential
Experimental info
	Sequence conflict	223	1	Missing in AAH14592. Ref.6

Sequences

	Sequence		Length	Mass (Da)
	Q9UJJ9 [UniParc]. Last modified May 1, 2000. Version 1. Checksum: 7774BBC0911DA1C2	FASTA	305	33,974
	10 20 30 40 50 60 MAAGLARLLL LLGLSAGGPA PAGAAKMKVV EEPNAFGVNN PFLPQASRLQ AKRDPSPVSG 70 80 90 100 110 120 PVHLFRLSGK CFSLVESTYK YEFCPFHNVT QHEQTFRWNA YSGILGIWHE WEIANNTFTG 130 140 150 160 170 180 MWMRDGDACR SRSRQSKVEL ACGKSNRLAH VSEPSTCVYA LTFETPLVCH PHALLVYPTL 190 200 210 220 230 240 PEALQRQWDQ VEQDLADELI TPQGHEKLLR TLFEDAGYLK TPEENEPTQL EGGPDSLGFE 250 260 270 280 290 300 TLENCRKAHK ELSKEIKRLK GLLTQHGIPY TRPTETSNLE HLGHETPRAK SPEQLRGDPG LRGSL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC)." Raas-Rothschild A., Cormier-Daire V., Bao M., Genin E., Salomon R., Brewer K., Zeigler M., Mandel H., Toth S., Roe B., Munnich A., Canfield W.M. J. Clin. Invest. 105:673-681(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBUNIT, TISSUE SPECIFICITY, INVOLVEMENT IN MLIIIC. Tissue: Brain.
[2]	"cDNA from human fetal brain." Fitzgerald P., Amarante-Mendes G.P., Li W., Green D.R. Submitted (SEP-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Fetal brain.
[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]. Tissue: Tongue.
[4]	"The sequence and analysis of duplication-rich human chromosome 16." Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J. , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A. Nature 432:988-994(2004) [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]. Tissue: Testis.
[7]	"Large-scale cDNA transfection screening for genes related to cancer development and progression." Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X. , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J. Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2-305.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF302786 mRNA. Translation: AAG27706.1. AL031709 Genomic DNA. Translation: CAB56184.1. AK312067 mRNA. Translation: BAG35003.1. CH471112 Genomic DNA. Translation: EAW85668.1. BC014592 mRNA. Translation: AAH14592.1. AY203933 mRNA. Translation: AAP34456.1. Different initiation.
IPI	IPI00000137.
PIR	T45062.
RefSeq	NP_115909.1. NM_032520.4.
UniGene	Hs.241575.
3D structure databases
ProteinModelPortal	Q9UJJ9.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9UJJ9. 3 interactions.
STRING	9606.ENSP00000204679.
PTM databases
PhosphoSite	Q9UJJ9.
Polymorphism databases
DMDM	71152085.
Proteomic databases
PaxDb	Q9UJJ9.
PRIDE	Q9UJJ9.
Protocols and materials databases
DNASU	84572.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000204679; ENSP00000204679; ENSG00000090581.
GeneID	84572.
KEGG	hsa:84572.
UCSC	uc002clm.3. human.
Organism-specific databases
CTD	84572.
GeneCards	GC16P001401.
HGNC	HGNC:23026. GNPTG.
HPA	HPA004055.
MIM	252605. phenotype. 607838. gene.
neXtProt	NX_Q9UJJ9.
Orphanet	577. Mucolipidosis type 3.
PharmGKB	PA134990433.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG291062.
HOVERGEN	HBG054262.
InParanoid	Q9UJJ9.
KO	K10087.
OMA	TCGKSNR.
OrthoDB	EOG42JNRX.
PhylomeDB	Q9UJJ9.
Gene expression databases
ArrayExpress	Q9UJJ9.
Bgee	Q9UJJ9.
CleanEx	HS_GNPTG.
Genevestigator	Q9UJJ9.
GermOnline	ENSG00000090581. Homo sapiens.
Family and domain databases
InterPro	IPR009011. Man6P_isomerase_rcpt-bd_dom. [Graphical view]
SUPFAM	SSF50911. Man6php_recept. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	GNPTG. human.
GenomeRNAi	84572.
NextBio	74470.
SOURCE	Search...

Entry information

Entry name

GNPTG_HUMAN

Accession

Primary (citable) accession number: Q9UJJ9
Secondary accession number(s): B2R556, Q6XYD7, Q96L13

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 19, 2005
Last sequence update:	May 1, 2000
Last modified:	May 1, 2013
This is version 84 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.