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Q9NY28 (GALT8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 104. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Probable polypeptide N-acetylgalactosaminyltransferase 8

EC=2.4.1.41
Alternative name(s):
Polypeptide GalNAc transferase 8
Short name=GalNAc-T8
Short name=pp-GaNTase 8
Protein-UDP acetylgalactosaminyltransferase 8
UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 8
Gene names
Name:GALNT8
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length637 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Probably catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor By similarity.

Catalytic activity

UDP-N-acetyl-alpha-D-galactosamine + polypeptide = UDP + N-acetyl-alpha-D-galactosaminyl-polypeptide.

Cofactor

Manganese By similarity.

Pathway

Protein modification; protein glycosylation.

Subcellular location

Golgi apparatus membrane; Single-pass type II membrane protein By similarity.

Tissue specificity

Widely expressed. Expressed in heart, skeletal muscle, kidney, liver, small intestine and placenta. Weakly expressed in colon, thymus, spleen, lung and leukocyte. Ref.1

Domain

There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding By similarity.

The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity By similarity.

Sequence similarities

Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.

Contains 1 ricin B-type lectin domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 637637Probable polypeptide N-acetylgalactosaminyltransferase 8
PRO_0000059119

Regions

Topological domain1 – 66Cytoplasmic Potential
Transmembrane7 – 2923Helical; Signal-anchor for type II membrane protein; Potential
Topological domain30 – 637608Lumenal Potential
Domain496 – 634139Ricin B-type lectin
Region180 – 294115Catalytic subdomain A
Region351 – 41262Catalytic subdomain B

Sites

Metal binding2781Manganese By similarity
Metal binding2801Manganese By similarity
Metal binding4091Manganese By similarity
Binding site2211Substrate By similarity
Binding site2551Substrate By similarity
Binding site4121Substrate By similarity
Binding site4171Substrate By similarity

Amino acid modifications

Glycosylation851N-linked (GlcNAc...) Potential
Glycosylation1071N-linked (GlcNAc...) Potential
Glycosylation1601N-linked (GlcNAc...) Potential
Disulfide bond171 ↔ 404 By similarity
Disulfide bond395 ↔ 474 By similarity
Disulfide bond509 ↔ 525 By similarity
Disulfide bond556 ↔ 571 By similarity
Disulfide bond599 ↔ 617 By similarity

Natural variations

Natural variant531Y → D.
Corresponds to variant rs10849133 [ dbSNP | Ensembl ].
VAR_019581
Natural variant531Y → N. Ref.1
VAR_019582
Natural variant2341E → K.
Corresponds to variant rs16931676 [ dbSNP | Ensembl ].
VAR_033947
Natural variant2671E → G. Ref.1
Corresponds to variant rs34776842 [ dbSNP | Ensembl ].
VAR_019583
Natural variant3121F → S. Ref.1
Corresponds to variant rs34829532 [ dbSNP | Ensembl ].
VAR_019584
Natural variant3371A → V. Ref.1
VAR_019585
Natural variant4381D → G. Ref.1
VAR_019586
Natural variant5151V → F. Ref.1
Corresponds to variant rs1468556 [ dbSNP | Ensembl ].
VAR_019587
Natural variant6111V → M. Ref.1
Corresponds to variant rs34114277 [ dbSNP | Ensembl ].
VAR_019588
Natural variant6301D → G.
Corresponds to variant rs16931692 [ dbSNP | Ensembl ].
VAR_049241

Sequences

Sequence LengthMass (Da)Tools
Q9NY28 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: 4C8BA5DC9A9A1F64

FASTA63772,851
        10         20         30         40         50         60 
MMFWRKLPKA LFIGLTLAIA VNLLLVFSSK GTLQNLFTGG LHRELPLHLN KRYGAVIKRL 

        70         80         90        100        110        120 
SHLEVELQDL KESMKLALRQ QENVNSTLKR AKDEVRPLLK AMETKVNETK KHKTQMKLFP 

       130        140        150        160        170        180 
HSQLFRQWGE DLSEAQQKAA QDLFRKFGYN AYLSNQLPLN RTIPDTRDYR CLRKTYPSQL 

       190        200        210        220        230        240 
PSLSVILIFV NEALSIIQRA ITSIINRTPS RLLKEIILVD DFSSNGELKV HLDEKIKLYN 

       250        260        270        280        290        300 
QKYPGLLKII RHPERKGLAQ ARNTGWEAAT ADVVAILDAH IEVNVGWAEP ILARIQEDRT 

       310        320        330        340        350        360 
VIVSPVFDNI RFDTFKLDKY ELAVDGFNWE LWCRYDALPQ AWIDLHDVTA PVKSPSIMGI 

       370        380        390        400        410        420 
LAANRHFLGE IGSLDGGMLI YGGENVELSL RVWQCGGKVE ILPCSRIAHL ERHHKPYALD 

       430        440        450        460        470        480 
LTAALKRNAL RVAEIWMDEH KHMVYLAWNI PLQNSGIDFG DVSSRMALRE KLKCKTFDWY 

       490        500        510        520        530        540 
LKNVYPLLKP LHTIVGYGRM KNLLDENVCL DQGPVPGNTP IMYYCHEFSS QNVYYHLTGE 

       550        560        570        580        590        600 
LYVGQLIAEA SASDRCLTDP GKAEKPTLEP CSKAAKNRLH IYWDFKPGGA VINRDTKRCL 

       610        620        630 
EMKKDLLGSH VLVLQTCSTQ VWEIQHTVRD WGQTNSQ 

« Hide

References

« Hide 'large scale' references
[1]"Molecular cloning of a novel human UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase, GalNAc-T8, and analysis as a candidate autosomal dominant hypophosphatemic rickets (ADHR) gene."
White K.E., Lorenz B., Evans W.E., Meitinger T., Strom T.M., Econs M.J.
Gene 246:347-356(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, VARIANTS ASN-53; GLY-267; SER-312; VAL-337; GLY-438; PHE-515 AND MET-611.
Tissue: Fetal brain.
[2]"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].
+Additional computationally mapped references.

Web resources

GGDB

GlycoGene database

Functional Glycomics Gateway - GTase

Probable polypeptide N-acetylgalactosaminyltransferase 8

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ271385 mRNA. Translation: CAB89199.1.
BC140888 mRNA. Translation: AAI40889.1.
BC140889 mRNA. Translation: AAI40890.1.
CCDSCCDS8533.1.
RefSeqNP_059113.1. NM_017417.1.
UniGeneHs.511985.

3D structure databases

ProteinModelPortalQ9NY28.
SMRQ9NY28. Positions 144-627.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000252318.

Protein family/group databases

CAZyCBM13. Carbohydrate-Binding Module Family 13.
GT27. Glycosyltransferase Family 27.

PTM databases

PhosphoSiteQ9NY28.

Polymorphism databases

DMDM51316106.

Proteomic databases

PaxDbQ9NY28.
PRIDEQ9NY28.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000252318; ENSP00000252318; ENSG00000130035.
GeneID26290.
KEGGhsa:26290.
UCSCuc001qne.1. human.

Organism-specific databases

CTD26290.
GeneCardsGC12P004829.
HGNCHGNC:4130. GALNT8.
HPAHPA012638.
MIM606250. gene.
neXtProtNX_Q9NY28.
PharmGKBPA28543.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0463.
HOGENOMHOG000038228.
HOVERGENHBG051699.
InParanoidQ9NY28.
KOK00710.
OMARCLQKTY.
OrthoDBEOG7QVM2G.
PhylomeDBQ9NY28.
TreeFamTF352661.

Enzyme and pathway databases

ReactomeREACT_17015. Metabolism of proteins.
UniPathwayUPA00378.

Gene expression databases

ArrayExpressQ9NY28.
BgeeQ9NY28.
CleanExHS_GALNT8.
GenevestigatorQ9NY28.

Family and domain databases

Gene3D3.90.550.10. 1 hit.
InterProIPR001173. Glyco_trans_2-like.
IPR029044. Nucleotide-diphossugar_trans.
IPR000772. Ricin_B_lectin.
[Graphical view]
PfamPF00535. Glycos_transf_2. 1 hit.
PF00652. Ricin_B_lectin. 1 hit.
[Graphical view]
SMARTSM00458. RICIN. 1 hit.
[Graphical view]
SUPFAMSSF50370. SSF50370. 1 hit.
SSF53448. SSF53448. 1 hit.
PROSITEPS50231. RICIN_B_LECTIN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSGALNT8. human.
GenomeRNAi26290.
NextBio48631.
PROQ9NY28.
SOURCESearch...

Entry information

Entry nameGALT8_HUMAN
AccessionPrimary (citable) accession number: Q9NY28
Secondary accession number(s): B2RU02
Entry history
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: October 1, 2000
Last modified: July 9, 2014
This is version 104 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

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

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

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM