Reviewed, UniProtKB/Swiss-Prot Q86VD9 (PIGZ_HUMAN)

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
      Short name=hSMP3

Gene names

Name:	PIGZ
Synonyms:	SMP3

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	579 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
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
Molecular function	Glycosyltransferase Transferase
Gene Ontology (GO)
Biological process	GPI anchor biosynthetic process Ref.4 Inferred from mutant phenotype. Source: UniProtKB
Cellular component	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 Ref.4 Inferred from mutant phenotype. 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	Potential
	Transmembrane	156 – 173	18	Potential
	Transmembrane	180 – 200	21	Potential
	Transmembrane	216 – 236	21	Potential
	Transmembrane	258 – 278	21	Potential
	Transmembrane	369 – 389	21	Potential
	Transmembrane	391 – 411	21	Potential
	Transmembrane	416 – 436	21	Potential
Natural variations
	Natural variant	266	1	T → A: dbSNP rs574365. Ref.2		VAR_054965
	Natural variant	340	1	Q → R: dbSNP rs4916589. Ref.2		VAR_027032
	Natural variant	417	1	V → A: dbSNP rs1147238.		VAR_027033
	Natural variant	487	1	M → I: dbSNP rs17855662. Ref.3		VAR_027034

Sequences

	Sequence		Length	Mass (Da)
	Q86VD9-1 [UniParc]. Last modified April 14, 2009. Version 3. Checksum: 0D133F60536B3A14	FASTA	579	63,473
	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 LLPGATLTAA VFVATDSWYF SSPATSRNLV LTPVNFLHYN 310 320 330 340 350 360 LNPQNLARHG THARLTHLAV NGFLLFGVLH AQALQAAWQQ 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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. 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: 16641997] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS ALA-266 AND ARG-340.
[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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT 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: 15208306] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AK022830 mRNA. Translation: BAB14263.1. Different initiation. AC011322 Genomic DNA. No translation available. BC044640 mRNA. Translation: AAH44640.1. Different initiation.
IPI	IPI00470544.
RefSeq	NP_079439.2.
UniGene	Hs.518403
3D structure databases
ModBase	Search...
Protein family/group databases
CAZy	GT22. Glycosyltransferase Family 22.
PTM databases
PhosphoSite	Q86VD9.
Genome annotation databases
Ensembl	ENSG00000119227. Homo sapiens. [Contig view]
GeneID	80235.
KEGG	hsa:80235.
Organism-specific databases
GeneCards	GC03M198162.
HGNC	HGNC:30596. PIGZ.
MIM	611671. gene.
PharmGKB	PA142671171.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q86VD9.
HOVERGEN	Q86VD9.
Gene expression databases
ArrayExpress	Q86VD9.
Bgee	Q86VD9.
CleanEx	HS_PIGZ.
GermOnline	ENSG00000119227. Homo sapiens.
Family and domain databases
InterPro	IPR005599. Alg9_trans. [Graphical view]
PANTHER	PTHR22760. Alg9_trans. 1 hit.
Pfam	PF03901. Glyco_transf_22. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
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:	April 14, 2009
Last modified:	April 14, 2009
This is version 47 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)