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Protein

GPI mannosyltransferase 4

Gene

PIGZ

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

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.1 Publication

Pathwayi: glycosylphosphatidylinositol-anchor biosynthesis

This protein is involved in the pathway glycosylphosphatidylinositol-anchor biosynthesis, which is part of Glycolipid biosynthesis.
View all proteins of this organism that are known to be involved in the pathway glycosylphosphatidylinositol-anchor biosynthesis and in Glycolipid biosynthesis.

GO - Molecular functioni

  • alpha-1,2-mannosyltransferase activity Source: UniProtKB
  • mannosyltransferase activity Source: UniProtKB

GO - Biological processi

  • GPI anchor biosynthetic process Source: UniProtKB
  • mannosylation Source: GOC
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Keywords - Biological processi

GPI-anchor biosynthesis

Enzyme and pathway databases

UniPathwayiUPA00196.

Protein family/group databases

CAZyiGT22. Glycosyltransferase Family 22.

Names & Taxonomyi

Protein namesi
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 namesi
Name:PIGZ
Synonyms:SMP3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:30596. PIGZ.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei131 – 15121HelicalSequence analysisAdd
BLAST
Transmembranei156 – 17318HelicalSequence analysisAdd
BLAST
Transmembranei180 – 20021HelicalSequence analysisAdd
BLAST
Transmembranei216 – 23621HelicalSequence analysisAdd
BLAST
Transmembranei258 – 27821HelicalSequence analysisAdd
BLAST
Transmembranei369 – 38921HelicalSequence analysisAdd
BLAST
Transmembranei391 – 41121HelicalSequence analysisAdd
BLAST
Transmembranei416 – 43621HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

  • endoplasmic reticulum Source: UniProtKB
  • endoplasmic reticulum membrane Source: UniProtKB-SubCell
  • integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142671171.

Polymorphism and mutation databases

DMDMi311033491.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 579579GPI mannosyltransferase 4PRO_0000246268Add
BLAST

Proteomic databases

PaxDbiQ86VD9.
PRIDEiQ86VD9.

PTM databases

iPTMnetiQ86VD9.
PhosphoSiteiQ86VD9.

Expressioni

Tissue specificityi

Widely expressed at low level, with highest level in brain and colon.1 Publication

Gene expression databases

BgeeiQ86VD9.
CleanExiHS_PIGZ.
ExpressionAtlasiQ86VD9. baseline and differential.
GenevisibleiQ86VD9. HS.

Organism-specific databases

HPAiHPA058599.
HPA059920.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000413405.

Structurei

3D structure databases

ProteinModelPortaliQ86VD9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4123. Eukaryota.
ENOG410XTCB. LUCA.
GeneTreeiENSGT00390000003227.
HOGENOMiHOG000121777.
InParanoidiQ86VD9.
KOiK08098.
OMAiSTFWLLR.
OrthoDBiEOG7HF1J7.
PhylomeDBiQ86VD9.
TreeFamiTF324461.

Family and domain databases

InterProiIPR005599. GPI_mannosylTrfase.
[Graphical view]
PANTHERiPTHR22760. PTHR22760. 2 hits.
PfamiPF03901. Glyco_transf_22. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q86VD9-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MQICGSSVAS VAAGTSFQVL GPVCWQQLDL KMAVRVLWGG LSLLRVLWCL
60 70 80 90 100
LPQTGYVHPD EFFQSPEVMA EDILGVQAAR PWEFYPSSSC RSVLFPLLIS
110 120 130 140 150
GSTFWLLRLW EELGPWPGLV SGYALLVGPR LLLTALSFAL DGAVYHLAPP
160 170 180 190 200
MGADRWNALA LLSGSYVTLV FYTRTFSNTI EGLLFTWLLV LVSSHVTWGP
210 220 230 240 250
TRKEPAPGPR WRSWLLGGIV AAGFFNRPTF LAFAVVPLYL WGTRGATNPG
260 270 280 290 300
LKSLTREALV LLPGAALTAA VFVATDSWYF SSPATSRNLV LTPVNFLHYN
310 320 330 340 350
LNPQNLARHG THARLTHLAV NGFLLFGVLH AQALQAAWQR LQVGLQASAQ
360 370 380 390 400
MGLLRALGAR SLLSSPRSYL LLLYFMPLAL LSAFSHQEAR FLIPLLVPLV
410 420 430 440 450
LLCSPQTQPV PWKGTVVLFN ALGALLFGCL HQGGLVPGLE YLEQVVHAPV
460 470 480 490 500
LPSTPTHYTL LFTHTYMPPR HLLHLPGLGA PVEVVDMGGT EDWALCQTLK
510 520 530 540 550
SFTRQPACQV AGGPWLCRLF VVTPGTTRRA VEKCSFPFKN ETLLFPHLTL
560 570
EDPPALSSLL SGAWRDHLSL HIVELGEET
Length:579
Mass (Da):63,471
Last modified:November 2, 2010 - v4
Checksum:i684FD8293BD09909
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti266 – 2661A → T.2 Publications
Corresponds to variant rs574365 [ dbSNP | Ensembl ].
VAR_054965
Natural varianti340 – 3401R → Q.2 Publications
Corresponds to variant rs4916589 [ dbSNP | Ensembl ].
VAR_027032
Natural varianti417 – 4171V → A.
Corresponds to variant rs1147238 [ dbSNP | Ensembl ].
VAR_027033
Natural varianti487 – 4871M → I.1 Publication
Corresponds to variant rs17855662 [ dbSNP | Ensembl ].
VAR_027034

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK022830 mRNA. Translation: BAB14263.1.
AC011322 Genomic DNA. No translation available.
BC044640 mRNA. Translation: AAH44640.1.
CCDSiCCDS3324.1.
RefSeqiNP_079439.2. NM_025163.3.
UniGeneiHs.518403.

Genome annotation databases

EnsembliENST00000412723; ENSP00000413405; ENSG00000119227.
GeneIDi80235.
KEGGihsa:80235.
UCSCiuc003fxh.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK022830 mRNA. Translation: BAB14263.1.
AC011322 Genomic DNA. No translation available.
BC044640 mRNA. Translation: AAH44640.1.
CCDSiCCDS3324.1.
RefSeqiNP_079439.2. NM_025163.3.
UniGeneiHs.518403.

3D structure databases

ProteinModelPortaliQ86VD9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000413405.

Protein family/group databases

CAZyiGT22. Glycosyltransferase Family 22.

PTM databases

iPTMnetiQ86VD9.
PhosphoSiteiQ86VD9.

Polymorphism and mutation databases

DMDMi311033491.

Proteomic databases

PaxDbiQ86VD9.
PRIDEiQ86VD9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000412723; ENSP00000413405; ENSG00000119227.
GeneIDi80235.
KEGGihsa:80235.
UCSCiuc003fxh.5. human.

Organism-specific databases

CTDi80235.
GeneCardsiPIGZ.
H-InvDBHIX0200490.
HGNCiHGNC:30596. PIGZ.
HPAiHPA058599.
HPA059920.
MIMi611671. gene.
neXtProtiNX_Q86VD9.
PharmGKBiPA142671171.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4123. Eukaryota.
ENOG410XTCB. LUCA.
GeneTreeiENSGT00390000003227.
HOGENOMiHOG000121777.
InParanoidiQ86VD9.
KOiK08098.
OMAiSTFWLLR.
OrthoDBiEOG7HF1J7.
PhylomeDBiQ86VD9.
TreeFamiTF324461.

Enzyme and pathway databases

UniPathwayiUPA00196.

Miscellaneous databases

GenomeRNAii80235.
PROiQ86VD9.
SOURCEiSearch...

Gene expression databases

BgeeiQ86VD9.
CleanExiHS_PIGZ.
ExpressionAtlasiQ86VD9. baseline and differential.
GenevisibleiQ86VD9. HS.

Family and domain databases

InterProiIPR005599. GPI_mannosylTrfase.
[Graphical view]
PANTHERiPTHR22760. PTHR22760. 2 hits.
PfamiPF03901. Glyco_transf_22. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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.

Entry informationi

Entry nameiPIGZ_HUMAN
AccessioniPrimary (citable) accession number: Q86VD9
Secondary accession number(s): Q9H9G6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: November 2, 2010
Last modified: June 8, 2016
This is version 98 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Caution

It is uncertain whether Met-1 or Met-32 is the initiator.Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.