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Q8NAT1

- PMGT2_HUMAN

UniProt

Q8NAT1 - PMGT2_HUMAN

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Protein

Protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2

Gene

POMGNT2

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

Functioni

O-linked mannose beta-1,4-N-acetylglucosaminyltransferase that tranfers UDP-N-acetyl-D-glucosamine to the 4-position of the mannose to generate N-acetyl-D-glucosamine-beta-1,4-O-D-mannosylprotein. Involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity.1 Publication

Catalytic activityi

UDP-N-acetyl-alpha-D-glucosamine + O-alpha-D-mannosylprotein = UDP + N-acetyl-beta-D-glucosaminyl-(1->4)-O-alpha-D-mannosylprotein.1 Publication

Pathwayi

GO - Molecular functioni

  1. acetylglucosaminyltransferase activity Source: UniProtKB
  2. protein O-GlcNAc transferase activity Source: MGI

GO - Biological processi

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

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Enzyme and pathway databases

UniPathwayiUPA00378.

Protein family/group databases

CAZyiGT61. Glycosyltransferase Family 61.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 (EC:2.4.1.-)
Short name:
POMGnT2
Alternative name(s):
Extracellular O-linked N-acetylglucosamine transferase-like
Glycosyltransferase-like domain-containing protein 2
Gene namesi
Name:POMGNT2
Synonyms:AGO61, C3orf39, EOGTL, GTDC2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:25902. POMGNT2.

Subcellular locationi

Endoplasmic reticulum membrane 1 Publication; Single-pass type II membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 44CytoplasmicSequence Analysis
Transmembranei5 – 2521Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
BLAST
Topological domaini26 – 580555LumenalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum Source: UniProtKB
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A8 (MDDGA8) [MIM:614830]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti158 – 1581R → H in MDDGA8. 1 Publication
VAR_068967

Keywords - Diseasei

Congenital muscular dystrophy, Disease mutation, Dystroglycanopathy, Lissencephaly

Organism-specific databases

MIMi614830. phenotype.
Orphaneti899. Walker-Warburg syndrome.
PharmGKBiPA142672374.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 580580Protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2PRO_0000249014Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi99 – 991N-linked (GlcNAc...)Sequence Analysis
Glycosylationi276 – 2761N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ8NAT1.
PaxDbiQ8NAT1.
PRIDEiQ8NAT1.

PTM databases

PhosphoSiteiQ8NAT1.

Expressioni

Tissue specificityi

Highly expressed in the brain, muscle, heart, and kidney in both fetus and adult. In the brain, highest expression in the cortex and cerebellum. Highly expressed in the pancreas.1 Publication

Gene expression databases

BgeeiQ8NAT1.
CleanExiHS_C3orf39.
GenevestigatoriQ8NAT1.

Organism-specific databases

HPAiHPA034870.
HPA040989.

Interactioni

Protein-protein interaction databases

BioGridi124332. 12 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ8NAT1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini488 – 58093Fibronectin type-IIIPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the glycosyltransferase 61 family.Curated
Contains 1 fibronectin type-III domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG317275.
GeneTreeiENSGT00770000120599.
HOGENOMiHOG000006878.
HOVERGENiHBG054852.
InParanoidiQ8NAT1.
KOiK18207.
OMAiYAVNPDH.
OrthoDBiEOG72G16T.
PhylomeDBiQ8NAT1.
TreeFamiTF332712.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
InterProiIPR003961. Fibronectin_type3.
IPR007657. Glycosyltransferase_AER61.
IPR013783. Ig-like_fold.
[Graphical view]
PfamiPF04577. DUF563. 1 hit.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 1 hit.
PROSITEiPS50853. FN3. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8NAT1-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MHLSAVFNAL LVSVLAAVLW KHVRLREHAA TLEEELALSR QATEPAPALR
60 70 80 90 100
IDYPKALQIL MEGGTHMVCT GRTHTDRICR FKWLCYSNEA EEFIFFHGNT
110 120 130 140 150
SVMLPNLGSR RFQPALLDLS TVEDHNTQYF NFVELPAAAL RFMPKPVFVP
160 170 180 190 200
DVALIANRFN PDNLMHVFHD DLLPLFYTLR QFPGLAHEAR LFFMEGWGEG
210 220 230 240 250
AHFDLYKLLS PKQPLLRAQL KTLGRLLCFS HAFVGLSKIT TWYQYGFVQP
260 270 280 290 300
QGPKANILVS GNEIRQFARF MTEKLNVSHT GVPLGEEYIL VFSRTQNRLI
310 320 330 340 350
LNEAELLLAL AQEFQMKTVT VSLEDHTFAD VVRLVSNASM LVSMHGAQLV
360 370 380 390 400
TTLFLPRGAT VVELFPYAVN PDHYTPYKTL AMLPGMDLQY VAWRNMMPEN
410 420 430 440 450
TVTHPERPWD QGGITHLDRA EQARILQSRE VPRHLCCRNP EWLFRIYQDT
460 470 480 490 500
KVDIPSLIQT IRRVVKGRPG PRKQKWTVGL YPGKVREARC QASVHGASEA
510 520 530 540 550
RLTVSWQIPW NLKYLKVREV KYEVWLQEQG ENTYVPYILA LQNHTFTENI
560 570 580
KPFTTYLVWV RCIFNKILLG PFADVLVCNT
Length:580
Mass (Da):66,615
Last modified:October 1, 2002 - v1
Checksum:i57D7FD168373FD9D
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti158 – 1581R → H in MDDGA8. 1 Publication
VAR_068967

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK027472 mRNA. Translation: BAB55137.1.
AK092147 mRNA. Translation: BAC03816.1.
AK124737 mRNA. Translation: BAG54085.1.
AC092042 Genomic DNA. No translation available.
CH471055 Genomic DNA. Translation: EAW64690.1.
BC060861 mRNA. Translation: AAH60861.1.
CCDSiCCDS2709.1.
RefSeqiNP_116195.2. NM_032806.5.
XP_005265572.1. XM_005265515.1.
XP_006713424.1. XM_006713361.1.
UniGeneiHs.745002.

Genome annotation databases

EnsembliENST00000344697; ENSP00000344125; ENSG00000144647.
ENST00000441964; ENSP00000408992; ENSG00000144647.
GeneIDi84892.
KEGGihsa:84892.
UCSCiuc003cmq.2. human.

Polymorphism databases

DMDMi74729999.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK027472 mRNA. Translation: BAB55137.1 .
AK092147 mRNA. Translation: BAC03816.1 .
AK124737 mRNA. Translation: BAG54085.1 .
AC092042 Genomic DNA. No translation available.
CH471055 Genomic DNA. Translation: EAW64690.1 .
BC060861 mRNA. Translation: AAH60861.1 .
CCDSi CCDS2709.1.
RefSeqi NP_116195.2. NM_032806.5.
XP_005265572.1. XM_005265515.1.
XP_006713424.1. XM_006713361.1.
UniGenei Hs.745002.

3D structure databases

ProteinModelPortali Q8NAT1.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 124332. 12 interactions.

Protein family/group databases

CAZyi GT61. Glycosyltransferase Family 61.

PTM databases

PhosphoSitei Q8NAT1.

Polymorphism databases

DMDMi 74729999.

Proteomic databases

MaxQBi Q8NAT1.
PaxDbi Q8NAT1.
PRIDEi Q8NAT1.

Protocols and materials databases

DNASUi 84892.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000344697 ; ENSP00000344125 ; ENSG00000144647 .
ENST00000441964 ; ENSP00000408992 ; ENSG00000144647 .
GeneIDi 84892.
KEGGi hsa:84892.
UCSCi uc003cmq.2. human.

Organism-specific databases

CTDi 84892.
GeneCardsi GC03M043121.
GeneReviewsi POMGNT2.
HGNCi HGNC:25902. POMGNT2.
HPAi HPA034870.
HPA040989.
MIMi 614828. gene.
614830. phenotype.
neXtProti NX_Q8NAT1.
Orphaneti 899. Walker-Warburg syndrome.
PharmGKBi PA142672374.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG317275.
GeneTreei ENSGT00770000120599.
HOGENOMi HOG000006878.
HOVERGENi HBG054852.
InParanoidi Q8NAT1.
KOi K18207.
OMAi YAVNPDH.
OrthoDBi EOG72G16T.
PhylomeDBi Q8NAT1.
TreeFami TF332712.

Enzyme and pathway databases

UniPathwayi UPA00378 .

Miscellaneous databases

ChiTaRSi POMGNT2. human.
GenomeRNAii 84892.
NextBioi 75226.
PROi Q8NAT1.
SOURCEi Search...

Gene expression databases

Bgeei Q8NAT1.
CleanExi HS_C3orf39.
Genevestigatori Q8NAT1.

Family and domain databases

Gene3Di 2.60.40.10. 1 hit.
InterProi IPR003961. Fibronectin_type3.
IPR007657. Glycosyltransferase_AER61.
IPR013783. Ig-like_fold.
[Graphical view ]
Pfami PF04577. DUF563. 1 hit.
[Graphical view ]
SUPFAMi SSF49265. SSF49265. 1 hit.
PROSITEi PS50853. FN3. 1 hit.
[Graphical view ]
ProtoNeti Search...

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].
    Tissue: Brain.
  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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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: Placenta.
  5. "SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function."
    Yoshida-Moriguchi T., Willer T., Anderson M.E., Venzke D., Whyte T., Muntoni F., Lee H., Nelson S.F., Yu L., Campbell K.P.
    Science 341:896-899(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, CATALYTIC ACTIVITY, SUBCELLULAR LOCATION.
  6. Cited for: VARIANT MDDGA8 HIS-158, TISSUE SPECIFICITY.

Entry informationi

Entry nameiPMGT2_HUMAN
AccessioniPrimary (citable) accession number: Q8NAT1
Secondary accession number(s): B3KWC3, Q96SY3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 5, 2006
Last sequence update: October 1, 2002
Last modified: November 26, 2014
This is version 94 of the entry and version 1 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 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

External Data

Dasty 3