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Protein

Probable polypeptide N-acetylgalactosaminyltransferase 8

Gene

GALNT8

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

Functioni

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 activityi

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

Cofactori

Mn2+By similarity

Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei221SubstrateBy similarity1
Binding sitei255SubstrateBy similarity1
Metal bindingi278ManganeseBy similarity1
Metal bindingi280ManganeseBy similarity1
Metal bindingi409ManganeseBy similarity1
Binding sitei412SubstrateBy similarity1
Binding sitei417SubstrateBy similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGlycosyltransferase, Transferase
LigandLectin, Manganese, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-913709. O-linked glycosylation of mucins.
UniPathwayiUPA00378.

Protein family/group databases

CAZyiCBM13. Carbohydrate-Binding Module Family 13.
GT27. Glycosyltransferase Family 27.

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:GALNT8
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000130035.6.
HGNCiHGNC:4130. GALNT8.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 6CytoplasmicSequence analysis6
Transmembranei7 – 29Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST23
Topological domaini30 – 637LumenalSequence analysisAdd BLAST608

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi26290.
OpenTargetsiENSG00000130035.
PharmGKBiPA28543.

Polymorphism and mutation databases

BioMutaiGALNT8.
DMDMi51316106.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000591191 – 637Probable polypeptide N-acetylgalactosaminyltransferase 8Add BLAST637

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi85N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi107N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi160N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi171 ↔ 404PROSITE-ProRule annotation
Disulfide bondi395 ↔ 474PROSITE-ProRule annotation
Disulfide bondi509 ↔ 525PROSITE-ProRule annotation
Disulfide bondi556 ↔ 571PROSITE-ProRule annotation
Disulfide bondi599 ↔ 617PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ9NY28.
PaxDbiQ9NY28.
PeptideAtlasiQ9NY28.
PRIDEiQ9NY28.

PTM databases

iPTMnetiQ9NY28.
PhosphoSitePlusiQ9NY28.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000130035.
CleanExiHS_GALNT8.
ExpressionAtlasiQ9NY28. baseline and differential.
GenevisibleiQ9NY28. HS.

Organism-specific databases

HPAiHPA012638.
HPA073461.

Interactioni

Protein-protein interaction databases

BioGridi117671. 5 interactors.
IntActiQ9NY28. 1 interactor.
STRINGi9606.ENSP00000252318.

Structurei

3D structure databases

ProteinModelPortaliQ9NY28.
SMRiQ9NY28.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini496 – 634Ricin B-type lectinPROSITE-ProRule annotationAdd BLAST139

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni180 – 294Catalytic subdomain AAdd BLAST115
Regioni351 – 412Catalytic subdomain BAdd BLAST62

Domaini

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 similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3736. Eukaryota.
ENOG410XPMK. LUCA.
GeneTreeiENSGT00670000097647.
HOGENOMiHOG000038228.
HOVERGENiHBG051699.
InParanoidiQ9NY28.
KOiK00710.
OrthoDBiEOG091G036Q.
PhylomeDBiQ9NY28.
TreeFamiTF352661.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiView protein in InterPro
IPR001173. Glyco_trans_2-like.
IPR029044. Nucleotide-diphossugar_trans.
IPR000772. Ricin_B_lectin.
PfamiView protein in Pfam
PF00535. Glycos_transf_2. 1 hit.
PF00652. Ricin_B_lectin. 1 hit.
SMARTiView protein in SMART
SM00458. RICIN. 1 hit.
SUPFAMiSSF50370. SSF50370. 1 hit.
SSF53448. SSF53448. 1 hit.
PROSITEiView protein in PROSITE
PS50231. RICIN_B_LECTIN. 1 hit.

Sequencei

Sequence statusi: Complete.

Q9NY28-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MMFWRKLPKA LFIGLTLAIA VNLLLVFSSK GTLQNLFTGG LHRELPLHLN
60 70 80 90 100
KRYGAVIKRL SHLEVELQDL KESMKLALRQ QENVNSTLKR AKDEVRPLLK
110 120 130 140 150
AMETKVNETK KHKTQMKLFP HSQLFRQWGE DLSEAQQKAA QDLFRKFGYN
160 170 180 190 200
AYLSNQLPLN RTIPDTRDYR CLRKTYPSQL PSLSVILIFV NEALSIIQRA
210 220 230 240 250
ITSIINRTPS RLLKEIILVD DFSSNGELKV HLDEKIKLYN QKYPGLLKII
260 270 280 290 300
RHPERKGLAQ ARNTGWEAAT ADVVAILDAH IEVNVGWAEP ILARIQEDRT
310 320 330 340 350
VIVSPVFDNI RFDTFKLDKY ELAVDGFNWE LWCRYDALPQ AWIDLHDVTA
360 370 380 390 400
PVKSPSIMGI LAANRHFLGE IGSLDGGMLI YGGENVELSL RVWQCGGKVE
410 420 430 440 450
ILPCSRIAHL ERHHKPYALD LTAALKRNAL RVAEIWMDEH KHMVYLAWNI
460 470 480 490 500
PLQNSGIDFG DVSSRMALRE KLKCKTFDWY LKNVYPLLKP LHTIVGYGRM
510 520 530 540 550
KNLLDENVCL DQGPVPGNTP IMYYCHEFSS QNVYYHLTGE LYVGQLIAEA
560 570 580 590 600
SASDRCLTDP GKAEKPTLEP CSKAAKNRLH IYWDFKPGGA VINRDTKRCL
610 620 630
EMKKDLLGSH VLVLQTCSTQ VWEIQHTVRD WGQTNSQ
Length:637
Mass (Da):72,851
Last modified:October 1, 2000 - v1
Checksum:i4C8BA5DC9A9A1F64
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01958153Y → D. Corresponds to variant dbSNP:rs10849133Ensembl.1
Natural variantiVAR_01958253Y → N1 PublicationCorresponds to variant dbSNP:rs10849133Ensembl.1
Natural variantiVAR_033947234E → K. Corresponds to variant dbSNP:rs16931676Ensembl.1
Natural variantiVAR_019583267E → G1 PublicationCorresponds to variant dbSNP:rs34776842Ensembl.1
Natural variantiVAR_019584312F → S1 PublicationCorresponds to variant dbSNP:rs34829532Ensembl.1
Natural variantiVAR_019585337A → V1 PublicationCorresponds to variant dbSNP:rs199920896Ensembl.1
Natural variantiVAR_019586438D → G1 PublicationCorresponds to variant dbSNP:rs559663039Ensembl.1
Natural variantiVAR_019587515V → F1 PublicationCorresponds to variant dbSNP:rs1468556Ensembl.1
Natural variantiVAR_019588611V → M1 PublicationCorresponds to variant dbSNP:rs34114277Ensembl.1
Natural variantiVAR_049241630D → G. Corresponds to variant dbSNP:rs16931692Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ271385 mRNA. Translation: CAB89199.1.
BC140888 mRNA. Translation: AAI40889.1.
BC140889 mRNA. Translation: AAI40890.1.
CCDSiCCDS8533.1.
RefSeqiNP_059113.1. NM_017417.1.
UniGeneiHs.511985.

Genome annotation databases

EnsembliENST00000252318; ENSP00000252318; ENSG00000130035.
GeneIDi26290.
KEGGihsa:26290.
UCSCiuc001qne.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiGALT8_HUMAN
AccessioniPrimary (citable) accession number: Q9NY28
Secondary accession number(s): B2RU02
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: October 1, 2000
Last modified: September 27, 2017
This is version 131 of the entry and version 1 of the sequence. See 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 12
    Human chromosome 12: 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