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Q8NAT1 (GTDC2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified May 29, 2013. Version 81. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
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to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Glycosyltransferase-like domain-containing protein 2
EC=2.4.1.255
Alternative name(s):
Extracellular O-linked N-acetylglucosamine transferase-like
Gene names
Name:GTDC2
Synonyms:AGO61, C3orf39, EOGTL
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length580 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Catalytic activity

UDP-N-acetyl-D-glucosamine + [protein]-L-serine = UDP + [protein]-3-O-(N-acetyl-D-glucosaminyl)-L-serine.

UDP-N-acetyl-D-glucosamine + [protein]-L-threonine = UDP + [protein]-3-O-(N-acetyl-D-glucosaminyl)-L-threonine.

Subcellular location

Secreted Potential.

Tissue specificity

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. Ref.4

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Sequence similarities

Belongs to the glycosyltransferase 61 family.

Ontologies

Keywords
   Cellular componentSecreted
   DiseaseCongenital muscular dystrophy
Disease mutation
Lissencephaly
   DomainSignal
   Molecular functionGlycosyltransferase
Transferase
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentextracellular region

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functiontransferase activity, transferring glycosyl groups

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1616 Potential
Chain17 – 580564Glycosyltransferase-like domain-containing protein 2
PRO_0000249014

Amino acid modifications

Glycosylation991N-linked (GlcNAc...) Potential
Glycosylation2761N-linked (GlcNAc...) Potential

Natural variations

Natural variant1581R → H in MDDGA8. Ref.4
VAR_068967

Sequences

Sequence LengthMass (Da)Tools
Q8NAT1 [UniParc].

Last modified October 1, 2002. Version 1.
Checksum: 57D7FD168373FD9D

FASTA58066,615
        10         20         30         40         50         60 
MHLSAVFNAL LVSVLAAVLW KHVRLREHAA TLEEELALSR QATEPAPALR IDYPKALQIL 

        70         80         90        100        110        120 
MEGGTHMVCT GRTHTDRICR FKWLCYSNEA EEFIFFHGNT SVMLPNLGSR RFQPALLDLS 

       130        140        150        160        170        180 
TVEDHNTQYF NFVELPAAAL RFMPKPVFVP DVALIANRFN PDNLMHVFHD DLLPLFYTLR 

       190        200        210        220        230        240 
QFPGLAHEAR LFFMEGWGEG AHFDLYKLLS PKQPLLRAQL KTLGRLLCFS HAFVGLSKIT 

       250        260        270        280        290        300 
TWYQYGFVQP QGPKANILVS GNEIRQFARF MTEKLNVSHT GVPLGEEYIL VFSRTQNRLI 

       310        320        330        340        350        360 
LNEAELLLAL AQEFQMKTVT VSLEDHTFAD VVRLVSNASM LVSMHGAQLV TTLFLPRGAT 

       370        380        390        400        410        420 
VVELFPYAVN PDHYTPYKTL AMLPGMDLQY VAWRNMMPEN TVTHPERPWD QGGITHLDRA 

       430        440        450        460        470        480 
EQARILQSRE VPRHLCCRNP EWLFRIYQDT KVDIPSLIQT IRRVVKGRPG PRKQKWTVGL 

       490        500        510        520        530        540 
YPGKVREARC QASVHGASEA RLTVSWQIPW NLKYLKVREV KYEVWLQEQG ENTYVPYILA 

       550        560        570        580 
LQNHTFTENI KPFTTYLVWV RCIFNKILLG PFADVLVCNT

« Hide

References

« Hide '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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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].
Tissue: Placenta.
[4]"Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome."
Manzini M.C., Tambunan D.E., Hill R.S., Yu T.W., Maynard T.M., Heinzen E.L., Shianna K.V., Stevens C.R., Partlow J.N., Barry B.J., Rodriguez J., Gupta V.A., Al-Qudah A.K., Eyaid W.M., Friedman J.M., Salih M.A., Clark R., Moroni I. expand/collapse author list , Mora M., Beggs A.H., Gabriel S.B., Walsh C.A.
Am. J. Hum. Genet. 91:541-547(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MDDGA8 HIS-158, TISSUE SPECIFICITY.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ		AK027472 mRNA. Translation: BAB55137.1.
AK092147 mRNA. Translation: BAC03816.1.
AK124737 mRNA. Translation: BAG54085.1.
CH471055 Genomic DNA. Translation: EAW64690.1.
BC060861 mRNA. Translation: AAH60861.1.
IPIIPI00171385.
RefSeqNP_116195.2. NM_032806.5.
UniGeneHs.12313.

3D structure databases

ProteinModelPortalQ8NAT1.
ModBaseSearch...

Protein family/group databases

CAZyGT61. Glycosyltransferase Family 61.

PTM databases

PhosphoSiteQ8NAT1.

Polymorphism databases

DMDM74729999.

Proteomic databases

PaxDbQ8NAT1.
PRIDEQ8NAT1.

Protocols and materials databases

DNASU84892.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000344697; ENSP00000344125; ENSG00000144647.
ENST00000441964; ENSP00000408992; ENSG00000144647.
GeneID84892.
KEGGhsa:84892.
UCSCuc003cmq.1. human.

Organism-specific databases

CTD84892.
GeneCardsGC03M043120.
HGNCHGNC:25902. GTDC2.
HPAHPA034870.
MIM614828. gene.
614830. phenotype.
neXtProtNX_Q8NAT1.
Orphanet899. Walker-Warburg syndrome.
PharmGKBPA142672374.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG317275.
HOGENOMHOG000006878.
HOVERGENHBG054852.
InParanoidQ8NAT1.
OMAYAVNPDH.
OrthoDBEOG4TQM8N.
PhylomeDBQ8NAT1.

Gene expression databases

BgeeQ8NAT1.
CleanExHS_C3orf39.
GenevestigatorQ8NAT1.
GermOnlineENSG00000144647. Homo sapiens.

Family and domain databases

Gene3D2.60.40.10. 1 hit.
InterProIPR003961. Fibronectin_type3.
IPR007657. Glycosyltransferase_AER61.
IPR013783. Ig-like_fold.
[Graphical view]
PfamPF04577. DUF563. 1 hit.
[Graphical view]
SUPFAMSSF49265. FN_III-like. 1 hit.
ProtoNetSearch...

Other

ChiTaRSC3orf39. human.
GenomeRNAi84892.
NextBio75226.
SOURCESearch...

Entry information

Entry nameGTDC2_HUMAN
AccessionPrimary (citable) accession number: Q8NAT1
Secondary accession number(s): B3KWC3, Q96SY3
Entry history
Integrated into UniProtKB/Swiss-Prot: September 5, 2006
Last sequence update: October 1, 2002
Last modified: May 29, 2013
This is version 81 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents