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Q8WZA1

- PMGT1_HUMAN

UniProt

Q8WZA1 - PMGT1_HUMAN

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Protein

Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1

Gene

POMGNT1

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

Functioni

Participates in O-mannosyl glycosylation. May be responsible for the synthesis of the GlcNAc(beta1-2)Man(alpha1-)O-Ser/Thr moiety on alpha-dystroglycan and other O-mannosylated proteins. Is specific for alpha linked terminal mannose and does not have MGAT3, MGAT4, MGAT5, MGAT7 or MGAT8 activity.1 Publication

Catalytic activityi

UDP-N-acetyl-alpha-D-glucosamine + O-alpha-D-mannosylprotein = UDP + N-acetyl-beta-D-glucosaminyl-(1->2)-O-alpha-D-mannosylprotein.1 Publication

Cofactori

Kineticsi

  1. KM=1.85 mM for mannosylpeptide2 Publications
  2. KM=0.73 mM for UDP-GlcNAc2 Publications
  3. KM=30 mM for Man(alpha1-)O-benzyl2 Publications
  4. KM=12 mM for CYA[Man(alpha1-)O-T]AV2 Publications

pH dependencei

Optimum pH is 6.0.2 Publications

Pathwayi

GO - Molecular functioni

  1. beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity Source: MGI

GO - Biological processi

  1. protein O-linked glycosylation Source: MGI
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Keywords - Ligandi

Manganese

Enzyme and pathway databases

UniPathwayiUPA00378.

Protein family/group databases

CAZyiGT13. Glycosyltransferase Family 13.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 (EC:2.4.1.-)
Short name:
POMGnT1
Alternative name(s):
UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.2
Short name:
GnT I.2
Gene namesi
Name:POMGNT1
Synonyms:MGAT1.2
ORF Names:UNQ746/PRO1475
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:19139. POMGNT1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 3737CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei38 – 5821Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
BLAST
Topological domaini59 – 660602LumenalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. Golgi apparatus Source: UniProtKB-KW
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280]: An autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, cobblestone lissencephaly, and cerebellar and pontine hypoplasia. Patients present severe congenital myopia, congenital glaucoma, pallor of the optic disks, retinal hypoplasia, mental retardation, hydrocephalus, abnormal electroencephalograms, generalized muscle weakness and myoclonic jerks. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease.6 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti176 – 1761T → P in MDDGA3. 1 Publication
VAR_065021
Natural varianti198 – 1981S → R in MDDGA3. 1 Publication
VAR_065022
Natural varianti223 – 2231E → K in MDDGA3; specific activity abolished in the membrane bound form but not the soluble form. 1 Publication
VAR_023101
Natural varianti265 – 2651R → H in MDDGA3; found on the same allele as Q-311; unknown pathological significance. 1 Publication
VAR_023102
Natural varianti269 – 2691C → Y in MDDGA3; specific activity abolished of the membrane bound form but not the soluble form. 1 Publication
VAR_023103
Natural varianti311 – 3111R → Q in MDDGA3 and MDDGB3. 2 Publications
VAR_023104
Natural varianti367 – 3671R → H in MDDGA3. 1 Publication
VAR_065023
Natural varianti425 – 4251W → S in MDDGA3. 1 Publication
VAR_023105
Natural varianti427 – 4271D → H in MDDGA3. 1 Publication
VAR_065024
Natural varianti442 – 4421R → C in MDDGA3. 1 Publication
Corresponds to variant rs28940869 [ dbSNP | Ensembl ].
VAR_023106
Natural varianti490 – 4901C → Y in MDDGA3 and MDDGB3. 3 Publications
VAR_023107
Natural varianti493 – 4931P → R in MDDGA3; specific activity abolished. 1 Publication
Corresponds to variant rs28942068 [ dbSNP | Ensembl ].
VAR_023108
Natural varianti550 – 5501S → N in MDDGA3. 1 Publication
VAR_023109
Muscular dystrophy-dystroglycanopathy congenital with mental retardation B3 (MDDGB3) [MIM:613151]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities. Clinical features include mental retardation, white matter changes, cerebellar cysts, pontine hypoplasia, myopia, optic atrophy, decreased alpha-dystroglycan on muscle biopsy and increased serum creatine kinase.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti311 – 3111R → Q in MDDGA3 and MDDGB3. 2 Publications
VAR_023104
Natural varianti490 – 4901C → Y in MDDGA3 and MDDGB3. 3 Publications
VAR_023107
Natural varianti605 – 6051R → P in MDDGB3. 1 Publication
VAR_065026
Muscular dystrophy-dystroglycanopathy limb-girdle C3 (MDDGC3) [MIM:613157]: A rare form of limb-girdle muscular dystrophy with normal cognition. Muscle biopsy shows dystrophic changes with variable staining for glycosylated alpha-dystroglycan.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti556 – 5561D → N in MDDGC3; normal enzyme activity but altered kinetic properties. 1 Publication
Corresponds to variant rs74374973 [ dbSNP | Ensembl ].
VAR_065025

Keywords - Diseasei

Congenital muscular dystrophy, Disease mutation, Dystroglycanopathy, Limb-girdle muscular dystrophy, Lissencephaly

Organism-specific databases

MIMi253280. phenotype.
613151. phenotype.
613157. phenotype.
Orphaneti206564. Autosomal recessive limb-girdle muscular dystrophy type 2O.
370959. Congenital muscular dystrophy with cerebellar involvement.
588. Muscle-eye-brain disease.
899. Walker-Warburg syndrome.
PharmGKBiPA142671161.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 660660Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1PRO_0000191390Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Cross-linki537 – 537Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Cross-linki538 – 538Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

MaxQBiQ8WZA1.
PaxDbiQ8WZA1.
PRIDEiQ8WZA1.

PTM databases

PhosphoSiteiQ8WZA1.

Expressioni

Tissue specificityi

Constitutively expressed. An additional weaker band is also detected in spinal cord, lymph node, and trachea. Expressed especially in astrocytes. Also expressed in immature and mature neurons.2 Publications

Gene expression databases

BgeeiQ8WZA1.
CleanExiHS_POMGNT1.
ExpressionAtlasiQ8WZA1. baseline and differential.
GenevestigatoriQ8WZA1.

Organism-specific databases

HPAiHPA044518.

Interactioni

Protein-protein interaction databases

BioGridi120763. 14 interactions.
IntActiQ8WZA1. 4 interactions.
STRINGi9606.ENSP00000361052.

Structurei

3D structure databases

ProteinModelPortaliQ8WZA1.
SMRiQ8WZA1. Positions 128-217, 302-542.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi263 – 2675Poly-Arg

Domaini

Amino acid residues between 299-311 are important for both protein expression and enzymatic activity. The minimal catalytic domain is located between positions 299-651. Single amino acid substitutions in the stem domain from MEB patients abolished the activity of the membrane-bound form but not the soluble form. This suggests that the stem domain of the soluble form is unnecessary for activity, but that some amino acids play a crucial role in the membrane-bound form.

Sequence similaritiesi

Belongs to the glycosyltransferase 13 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG148227.
GeneTreeiENSGT00530000063632.
HOGENOMiHOG000231121.
HOVERGENiHBG055279.
InParanoidiQ8WZA1.
KOiK09666.
OMAiNHFLVVG.
OrthoDBiEOG786H2N.
PhylomeDBiQ8WZA1.
TreeFamiTF320555.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiIPR004139. Glyco_trans_13.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PANTHERiPTHR10468. PTHR10468. 1 hit.
PfamiPF03071. GNT-I. 1 hit.
[Graphical view]
SUPFAMiSSF53448. SSF53448. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8WZA1-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MDDWKPSPLI KPFGARKKRS WYLTWKYKLT NQRALRRFCQ TGAVLFLLVT
60 70 80 90 100
VIVNIKLILD TRRAISEANE DPEPEQDYDE ALGRLEPPRR RGSGPRRVLD
110 120 130 140 150
VEVYSSRSKV YVAVDGTTVL EDEAREQGRG IHVIVLNQAT GHVMAKRVFD
160 170 180 190 200
TYSPHEDEAM VLFLNMVAPG RVLICTVKDE GSFHLKDTAK ALLRSLGSQA
210 220 230 240 250
GPALGWRDTW AFVGRKGGPV FGEKHSKSPA LSSWGDPVLL KTDVPLSSAE
260 270 280 290 300
EAECHWADTE LNRRRRRFCS KVEGYGSVCS CKDPTPIEFS PDPLPDNKVL
310 320 330 340 350
NVPVAVIAGN RPNYLYRMLR SLLSAQGVSP QMITVFIDGY YEEPMDVVAL
360 370 380 390 400
FGLRGIQHTP ISIKNARVSQ HYKASLTATF NLFPEAKFAV VLEEDLDIAV
410 420 430 440 450
DFFSFLSQSI HLLEEDDSLY CISAWNDQGY EHTAEDPALL YRVETMPGLG
460 470 480 490 500
WVLRRSLYKE ELEPKWPTPE KLWDWDMWMR MPEQRRGREC IIPDVSRSYH
510 520 530 540 550
FGIVGLNMNG YFHEAYFKKH KFNTVPGVQL RNVDSLKKEA YEVEVHRLLS
560 570 580 590 600
EAEVLDHSKN PCEDSFLPDT EGHTYVAFIR MEKDDDFTTW TQLAKCLHIW
610 620 630 640 650
DLDVRGNHRG LWRLFRKKNH FLMVGVPASP YSVKKPPSVT PIFLEPPPKE
660
EGAPGAPEQT
Length:660
Mass (Da):75,252
Last modified:November 2, 2010 - v2
Checksum:iC58D0E543E033F17
GO
Isoform 2 (identifier: Q8WZA1-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     624-660: VGVPASPYSV...EGAPGAPEQT → SEEATLSHPN...LLFVQISKAG

Note: No experimental confirmation available.Curated

Show »
Length:748
Mass (Da):84,700
Checksum:iB88BFD957237FEFD
GO

Sequence cautioni

The sequence BAB14207.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti636 – 6361P → L in BAA91053. (PubMed:12975309)Curated
Isoform 2 (identifier: Q8WZA1-2)
Sequence conflicti636 – 6361G → K in AK056186. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti176 – 1761T → P in MDDGA3. 1 Publication
VAR_065021
Natural varianti198 – 1981S → R in MDDGA3. 1 Publication
VAR_065022
Natural varianti223 – 2231E → K in MDDGA3; specific activity abolished in the membrane bound form but not the soluble form. 1 Publication
VAR_023101
Natural varianti250 – 2501E → V.1 Publication
Corresponds to variant rs17855359 [ dbSNP | Ensembl ].
VAR_030645
Natural varianti265 – 2651R → H in MDDGA3; found on the same allele as Q-311; unknown pathological significance. 1 Publication
VAR_023102
Natural varianti269 – 2691C → Y in MDDGA3; specific activity abolished of the membrane bound form but not the soluble form. 1 Publication
VAR_023103
Natural varianti311 – 3111R → Q in MDDGA3 and MDDGB3. 2 Publications
VAR_023104
Natural varianti367 – 3671R → H in MDDGA3. 1 Publication
VAR_065023
Natural varianti425 – 4251W → S in MDDGA3. 1 Publication
VAR_023105
Natural varianti427 – 4271D → H in MDDGA3. 1 Publication
VAR_065024
Natural varianti442 – 4421R → C in MDDGA3. 1 Publication
Corresponds to variant rs28940869 [ dbSNP | Ensembl ].
VAR_023106
Natural varianti490 – 4901C → Y in MDDGA3 and MDDGB3. 3 Publications
VAR_023107
Natural varianti493 – 4931P → R in MDDGA3; specific activity abolished. 1 Publication
Corresponds to variant rs28942068 [ dbSNP | Ensembl ].
VAR_023108
Natural varianti504 – 5041V → I.
Corresponds to variant rs17102066 [ dbSNP | Ensembl ].
VAR_030646
Natural varianti550 – 5501S → N in MDDGA3. 1 Publication
VAR_023109
Natural varianti556 – 5561D → N in MDDGC3; normal enzyme activity but altered kinetic properties. 1 Publication
Corresponds to variant rs74374973 [ dbSNP | Ensembl ].
VAR_065025
Natural varianti605 – 6051R → P in MDDGB3. 1 Publication
VAR_065026
Natural varianti623 – 6231M → V.7 Publications
Corresponds to variant rs6659553 [ dbSNP | Ensembl ].
VAR_023110

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei624 – 66037VGVPA…APEQT → SEEATLSHPNFPGATPKGGG SPRSPRTDMRPPPGPCGAGP GSESNLFIDCPEGLENRPNL EGLDFFLGWNAALRVGLALT QETAVPNPWTGPAGAHMLTQ THSETLRHWTRPPLSLLFVQ ISKAG in isoform 2. 1 PublicationVSP_054029Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB057356 mRNA. Translation: BAB71960.1.
AY358592 mRNA. Translation: AAQ88955.1.
AK000284 mRNA. Translation: BAA91053.1.
AK022727 mRNA. Translation: BAB14207.1. Different initiation.
AK056186 mRNA. No translation available.
AL672043 Genomic DNA. Translation: CAH72470.1.
CH471059 Genomic DNA. Translation: EAX06932.1.
CH471059 Genomic DNA. Translation: EAX06933.1.
CH471059 Genomic DNA. Translation: EAX06935.1.
BC001471 mRNA. Translation: AAH01471.1.
AF250859 mRNA. Translation: AAF71270.2.
CCDSiCCDS531.1. [Q8WZA1-1]
CCDS57995.1. [Q8WZA1-2]
RefSeqiNP_060209.3. NM_017739.3.
XP_006710819.1. XM_006710756.1. [Q8WZA1-2]
UniGeneiHs.525134.

Genome annotation databases

EnsembliENST00000371984; ENSP00000361052; ENSG00000085998. [Q8WZA1-1]
ENST00000371992; ENSP00000361060; ENSG00000085998. [Q8WZA1-2]
GeneIDi55624.
KEGGihsa:55624.
UCSCiuc001cpe.3. human. [Q8WZA1-1]
uc001cpg.3. human.

Polymorphism databases

DMDMi311033411.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

GGDB

GlycoGene database

Functional Glycomics Gateway - GTase

Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB057356 mRNA. Translation: BAB71960.1 .
AY358592 mRNA. Translation: AAQ88955.1 .
AK000284 mRNA. Translation: BAA91053.1 .
AK022727 mRNA. Translation: BAB14207.1 . Different initiation.
AK056186 mRNA. No translation available.
AL672043 Genomic DNA. Translation: CAH72470.1 .
CH471059 Genomic DNA. Translation: EAX06932.1 .
CH471059 Genomic DNA. Translation: EAX06933.1 .
CH471059 Genomic DNA. Translation: EAX06935.1 .
BC001471 mRNA. Translation: AAH01471.1 .
AF250859 mRNA. Translation: AAF71270.2 .
CCDSi CCDS531.1. [Q8WZA1-1 ]
CCDS57995.1. [Q8WZA1-2 ]
RefSeqi NP_060209.3. NM_017739.3.
XP_006710819.1. XM_006710756.1. [Q8WZA1-2 ]
UniGenei Hs.525134.

3D structure databases

ProteinModelPortali Q8WZA1.
SMRi Q8WZA1. Positions 128-217, 302-542.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120763. 14 interactions.
IntActi Q8WZA1. 4 interactions.
STRINGi 9606.ENSP00000361052.

Chemistry

ChEMBLi CHEMBL2321629.

Protein family/group databases

CAZyi GT13. Glycosyltransferase Family 13.

PTM databases

PhosphoSitei Q8WZA1.

Polymorphism databases

DMDMi 311033411.

Proteomic databases

MaxQBi Q8WZA1.
PaxDbi Q8WZA1.
PRIDEi Q8WZA1.

Protocols and materials databases

DNASUi 55624.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000371984 ; ENSP00000361052 ; ENSG00000085998 . [Q8WZA1-1 ]
ENST00000371992 ; ENSP00000361060 ; ENSG00000085998 . [Q8WZA1-2 ]
GeneIDi 55624.
KEGGi hsa:55624.
UCSCi uc001cpe.3. human. [Q8WZA1-1 ]
uc001cpg.3. human.

Organism-specific databases

CTDi 55624.
GeneCardsi GC01M046654.
GeneReviewsi POMGNT1.
HGNCi HGNC:19139. POMGNT1.
HPAi HPA044518.
MIMi 253280. phenotype.
606822. gene.
613151. phenotype.
613157. phenotype.
neXtProti NX_Q8WZA1.
Orphaneti 206564. Autosomal recessive limb-girdle muscular dystrophy type 2O.
370959. Congenital muscular dystrophy with cerebellar involvement.
588. Muscle-eye-brain disease.
899. Walker-Warburg syndrome.
PharmGKBi PA142671161.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG148227.
GeneTreei ENSGT00530000063632.
HOGENOMi HOG000231121.
HOVERGENi HBG055279.
InParanoidi Q8WZA1.
KOi K09666.
OMAi NHFLVVG.
OrthoDBi EOG786H2N.
PhylomeDBi Q8WZA1.
TreeFami TF320555.

Enzyme and pathway databases

UniPathwayi UPA00378 .

Miscellaneous databases

ChiTaRSi POMGNT1. human.
GeneWikii POMGNT1.
GenomeRNAii 55624.
NextBioi 60240.
PROi Q8WZA1.
SOURCEi Search...

Gene expression databases

Bgeei Q8WZA1.
CleanExi HS_POMGNT1.
ExpressionAtlasi Q8WZA1. baseline and differential.
Genevestigatori Q8WZA1.

Family and domain databases

Gene3Di 3.90.550.10. 1 hit.
InterProi IPR004139. Glyco_trans_13.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view ]
PANTHERi PTHR10468. PTHR10468. 1 hit.
Pfami PF03071. GNT-I. 1 hit.
[Graphical view ]
SUPFAMi SSF53448. SSF53448. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1."
    Yoshida A., Kobayashi K., Manya H., Taniguchi K., Kano H., Mizuno M., Inazu T., Mitsuhashi H., Takahashi S., Takeuchi M., Herrmann R., Straub V., Talim B., Voit T., Topaloglu H., Toda T., Endo T.
    Dev. Cell 1:717-724(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, BIOPHYSICOCHEMICAL PROPERTIES, VARIANTS MDDGA3 ARG-493 AND ASN-550, VARIANT VAL-623, FUNCTION, CATALYTIC ACTIVITY.
    Tissue: Brain.
  2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS MDDGA3 LYS-223 AND TYR-269, VARIANT VAL-623.
    Tissue: Brain.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT VAL-623.
  4. "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] (ISOFORMS 1 AND 2), VARIANT VAL-623.
  5. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT VAL-623.
  7. "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] (ISOFORM 1), VARIANTS VAL-250 AND VAL-623.
    Tissue: Placenta.
  8. "Cloning and expression of a novel UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase homologous to UDP-GlcNAc:alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I."
    Zhang W., Betel D., Schachter H.
    Biochem. J. 361:153-162(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 84-660 (ISOFORM 1), TISSUE SPECIFICITY, BIOPHYSICOCHEMICAL PROPERTIES, VARIANT VAL-623.
    Tissue: Brain.
  9. "Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry."
    Denis N.J., Vasilescu J., Lambert J.-P., Smith J.C., Figeys D.
    Proteomics 7:868-874(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: UBIQUITINATION [LARGE SCALE ANALYSIS] AT LYS-537 AND LYS-538.
    Tissue: Mammary cancer.
  10. "Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease."
    Manya H., Sakai K., Kobayashi K., Taniguchi K., Kawakita M., Toda T., Endo T.
    Biochem. Biophys. Res. Commun. 306:93-97(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANTS MDDGA3 LYS-223; TYR-269 AND ARG-493.
  11. "Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1."
    Akasaka-Manya K., Manya H., Kobayashi K., Toda T., Endo T.
    Biochem. Biophys. Res. Commun. 320:39-44(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION OF CATALYTIC DOMAIN, CHARACTERIZATION OF VARIANTS MDDGA3 LYS-223 AND TYR-269.
  12. "POMGnT1 gene alterations in a family with neurological abnormalities."
    Vervoort V.S., Holden K.R., Ukadike K.C., Collins J.S., Saul R.A., Srivastava A.K.
    Ann. Neurol. 56:143-148(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MDDGA3 HIS-265; GLN-311 AND CYS-442.
  13. Cited for: VARIANTS MDDGA3 SER-425 AND TYR-490.
  14. "POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum."
    Biancheri R., Bertini E., Falace A., Pedemonte M., Rossi A., D'Amico A., Scapolan S., Bergamino L., Petrini S., Cassandrini D., Broda P., Manfredi M., Zara F., Santorelli F.M., Minetti C., Bruno C.
    Arch. Neurol. 63:1491-1495(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MDDGA3 ARG-198 AND TYR-490, VARIANT MDDGB3 GLN-311.
  15. Cited for: VARIANTS MDDGA3 PRO-176; HIS-367 AND HIS-427, VARIANT MDDGB3 TYR-490.
  16. Cited for: VARIANT MDDGC3 ASN-556, CHARACTERIZATION OF VARIANT MDDGC3 ASN-556.
  17. Cited for: VARIANT MDDGB3 PRO-605.

Entry informationi

Entry nameiPMGT1_HUMAN
AccessioniPrimary (citable) accession number: Q8WZA1
Secondary accession number(s): D3DQ16
, Q5VST2, Q5VST3, Q9BV55, Q9H9L8, Q9NXF9, Q9NYF7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 16, 2005
Last sequence update: November 2, 2010
Last modified: November 26, 2014
This is version 115 of the entry and version 2 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: 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

External Data

Dasty 3