Q86VD9 (PIGZ_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
GPI mannosyltransferase 4
EC=2.4.1.-

Alternative name(s):
GPI mannosyltransferase IV
Short name=GPI-MT-IV
Phosphatidylinositol-glycan biosynthesis class Z protein
Short name=PIG-Z
SMP3 homolog
Short name=hSMP3

Gene names

Name:	PIGZ
Synonyms:	SMP3

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	579 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers a fourth mannose to some trimannosyl-GPIs during GPI precursor assembly. The presence of a fourth mannose in GPI is facultative and only scarcely detected, suggesting that it only exists in some tissues. Ref.4
Pathway	Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.
Subcellular location	Endoplasmic reticulum membrane; Multi-pass membrane protein Ref.4.
Tissue specificity	Widely expressed at low level, with highest level in brain and colon. Ref.4
Sequence similarities	Belongs to the glycosyltransferase 22 family. PIGZ subfamily.
Caution	It is uncertain whether Met-1 or Met-32 is the initiator.

Ontologies

Keywords
Biological process	GPI-anchor biosynthesis
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Polymorphism
Domain	Transmembrane Transmembrane helix
Molecular function	Glycosyltransferase Transferase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	GPI anchor biosynthetic process Inferred from mutant phenotype Ref.4. Source: UniProtKB
Cellular_component	endoplasmic reticulum Inferred from direct assay Ref.4. Source: UniProtKB integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW intrinsic to endoplasmic reticulum membrane Inferred from electronic annotation. Source: InterPro
Molecular_function	alpha-1,2-mannosyltransferase activity Inferred from mutant phenotype Ref.4. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 579	579	GPI mannosyltransferase 4		PRO_0000246268
Regions
	Transmembrane	131 – 151	21	Helical; Potential
	Transmembrane	156 – 173	18	Helical; Potential
	Transmembrane	180 – 200	21	Helical; Potential
	Transmembrane	216 – 236	21	Helical; Potential
	Transmembrane	258 – 278	21	Helical; Potential
	Transmembrane	369 – 389	21	Helical; Potential
	Transmembrane	391 – 411	21	Helical; Potential
	Transmembrane	416 – 436	21	Helical; Potential
Natural variations
	Natural variant	266	1	A → T. Ref.1 Ref.3 Corresponds to variant rs574365 [ dbSNP | Ensembl ].		VAR_054965
	Natural variant	340	1	R → Q. Ref.1 Ref.3 Corresponds to variant rs4916589 [ dbSNP | Ensembl ].		VAR_027032
	Natural variant	417	1	V → A. Corresponds to variant rs1147238 [ dbSNP | Ensembl ].		VAR_027033
	Natural variant	487	1	M → I. Ref.3 Corresponds to variant rs17855662 [ dbSNP | Ensembl ].		VAR_027034

Sequences

	Sequence		Length	Mass (Da)
	Q86VD9 [UniParc]. Last modified November 2, 2010. Version 4. Checksum: 684FD8293BD09909	FASTA	579	63,471
	10 20 30 40 50 60 MQICGSSVAS VAAGTSFQVL GPVCWQQLDL KMAVRVLWGG LSLLRVLWCL LPQTGYVHPD 70 80 90 100 110 120 EFFQSPEVMA EDILGVQAAR PWEFYPSSSC RSVLFPLLIS GSTFWLLRLW EELGPWPGLV 130 140 150 160 170 180 SGYALLVGPR LLLTALSFAL DGAVYHLAPP MGADRWNALA LLSGSYVTLV FYTRTFSNTI 190 200 210 220 230 240 EGLLFTWLLV LVSSHVTWGP TRKEPAPGPR WRSWLLGGIV AAGFFNRPTF LAFAVVPLYL 250 260 270 280 290 300 WGTRGATNPG LKSLTREALV LLPGAALTAA VFVATDSWYF SSPATSRNLV LTPVNFLHYN 310 320 330 340 350 360 LNPQNLARHG THARLTHLAV NGFLLFGVLH AQALQAAWQR LQVGLQASAQ MGLLRALGAR 370 380 390 400 410 420 SLLSSPRSYL LLLYFMPLAL LSAFSHQEAR FLIPLLVPLV LLCSPQTQPV PWKGTVVLFN 430 440 450 460 470 480 ALGALLFGCL HQGGLVPGLE YLEQVVHAPV LPSTPTHYTL LFTHTYMPPR HLLHLPGLGA 490 500 510 520 530 540 PVEVVDMGGT EDWALCQTLK SFTRQPACQV AGGPWLCRLF VVTPGTTRRA VEKCSFPFKN 550 560 570 ETLLFPHLTL EDPPALSSLL SGAWRDHLSL HIVELGEET

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], VARIANTS THR-266 AND GLN-340. Tissue: Teratocarcinoma.
[2]	"The DNA sequence, annotation and analysis of human chromosome 3." Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A. Nature 440:1194-1198(2006) [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], VARIANTS THR-266; GLN-340 AND ILE-487. Tissue: Skin.
[4]	"Human Smp3p adds a fourth mannose to yeast and human glycosylphosphatidylinositol precursors in vivo." Taron B.W., Colussi P.A., Wiedman J.M., Orlean P., Taron C.H. J. Biol. Chem. 279:36083-36092(2004) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK022830 mRNA. Translation: BAB14263.1. AC011322 Genomic DNA. No translation available. BC044640 mRNA. Translation: AAH44640.1.
IPI	IPI00470544.
RefSeq	NP_079439.2. NM_025163.2.
UniGene	Hs.518403.
3D structure databases
ProteinModelPortal	Q86VD9.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000413405.
Protein family/group databases
CAZy	GT22. Glycosyltransferase Family 22.
PTM databases
PhosphoSite	Q86VD9.
Polymorphism databases
DMDM	311033491.
Proteomic databases
PaxDb	Q86VD9.
PRIDE	Q86VD9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000412723; ENSP00000413405; ENSG00000119227.
GeneID	80235.
KEGG	hsa:80235.
UCSC	uc003fxh.3. human.
Organism-specific databases
CTD	80235.
GeneCards	GC03M196673.
H-InvDB	HIX0200490.
HGNC	HGNC:30596. PIGZ.
MIM	611671. gene.
neXtProt	NX_Q86VD9.
PharmGKB	PA142671171.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG310998.
HOGENOM	HOG000121777.
InParanoid	Q86VD9.
KO	K08098.
OMA	WEELGLW.
OrthoDB	EOG42JNRG.
Enzyme and pathway databases
UniPathway	UPA00196.
Gene expression databases
ArrayExpress	Q86VD9.
Bgee	Q86VD9.
CleanEx	HS_PIGZ.
Genevestigator	Q86VD9.
GermOnline	ENSG00000119227. Homo sapiens.
Family and domain databases
InterPro	IPR005599. GPI_mannosylTrfase. [Graphical view]
PANTHER	PTHR22760. PTHR22760. 1 hit.
Pfam	PF03901. Glyco_transf_22. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	80235.
NextBio	70681.
SOURCE	Search...

Entry information

Entry name

PIGZ_HUMAN

Accession

Primary (citable) accession number: Q86VD9
Secondary accession number(s): Q9H9G6

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 25, 2006
Last sequence update:	November 2, 2010
Last modified:	April 3, 2013
This is version 80 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.