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Q9NY28

- GALT8_HUMAN

UniProt

Q9NY28 - GALT8_HUMAN

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Protein

Probable polypeptide N-acetylgalactosaminyltransferase 8

Gene

GALNT8

Organism
Homo sapiens (Human)
Status
Reviewed - 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

Manganese.By similarity

Pathwayi

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei221 – 2211SubstrateBy similarity
Binding sitei255 – 2551SubstrateBy similarity
Metal bindingi278 – 2781ManganeseBy similarity
Metal bindingi280 – 2801ManganeseBy similarity
Metal bindingi409 – 4091ManganeseBy similarity
Binding sitei412 – 4121SubstrateBy similarity
Binding sitei417 – 4171SubstrateBy similarity

GO - Molecular functioni

  1. carbohydrate binding Source: UniProtKB-KW
  2. metal ion binding Source: UniProtKB-KW
  3. polypeptide N-acetylgalactosaminyltransferase activity Source: ProtInc

GO - Biological processi

  1. cellular protein metabolic process Source: Reactome
  2. O-glycan processing Source: Reactome
  3. post-translational protein modification Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Keywords - Ligandi

Lectin, Manganese, Metal-binding

Enzyme and pathway databases

ReactomeiREACT_115606. 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
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:4130. GALNT8.

Subcellular locationi

GO - Cellular componenti

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

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA28543.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 637637Probable polypeptide N-acetylgalactosaminyltransferase 8PRO_0000059119Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi85 – 851N-linked (GlcNAc...)Sequence Analysis
Glycosylationi107 – 1071N-linked (GlcNAc...)Sequence Analysis
Glycosylationi160 – 1601N-linked (GlcNAc...)Sequence Analysis
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

PaxDbiQ9NY28.
PRIDEiQ9NY28.

PTM databases

PhosphoSiteiQ9NY28.

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

BgeeiQ9NY28.
CleanExiHS_GALNT8.
ExpressionAtlasiQ9NY28. baseline.
GenevestigatoriQ9NY28.

Organism-specific databases

HPAiHPA012638.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000252318.

Structurei

3D structure databases

ProteinModelPortaliQ9NY28.
SMRiQ9NY28. Positions 146-628.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 66CytoplasmicSequence Analysis
Topological domaini30 – 637608LumenalSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei7 – 2923Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini496 – 634139Ricin B-type lectinPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni180 – 294115Catalytic subdomain AAdd
BLAST
Regioni351 – 41262Catalytic subdomain BAdd
BLAST

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

Contains 1 ricin B-type lectin domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0463.
GeneTreeiENSGT00670000097647.
HOGENOMiHOG000038228.
HOVERGENiHBG051699.
InParanoidiQ9NY28.
KOiK00710.
OMAiRCLQKTY.
OrthoDBiEOG7QVM2G.
PhylomeDBiQ9NY28.
TreeFamiTF352661.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiIPR001173. Glyco_trans_2-like.
IPR029044. Nucleotide-diphossugar_trans.
IPR000772. Ricin_B_lectin.
[Graphical view]
PfamiPF00535. Glycos_transf_2. 1 hit.
PF00652. Ricin_B_lectin. 1 hit.
[Graphical view]
SMARTiSM00458. RICIN. 1 hit.
[Graphical view]
SUPFAMiSSF50370. SSF50370. 1 hit.
SSF53448. SSF53448. 1 hit.
PROSITEiPS50231. RICIN_B_LECTIN. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti53 – 531Y → D.
Corresponds to variant rs10849133 [ dbSNP | Ensembl ].
VAR_019581
Natural varianti53 – 531Y → N.1 Publication
VAR_019582
Natural varianti234 – 2341E → K.
Corresponds to variant rs16931676 [ dbSNP | Ensembl ].
VAR_033947
Natural varianti267 – 2671E → G.1 Publication
Corresponds to variant rs34776842 [ dbSNP | Ensembl ].
VAR_019583
Natural varianti312 – 3121F → S.1 Publication
Corresponds to variant rs34829532 [ dbSNP | Ensembl ].
VAR_019584
Natural varianti337 – 3371A → V.1 Publication
VAR_019585
Natural varianti438 – 4381D → G.1 Publication
VAR_019586
Natural varianti515 – 5151V → F.1 Publication
Corresponds to variant rs1468556 [ dbSNP | Ensembl ].
VAR_019587
Natural varianti611 – 6111V → M.1 Publication
Corresponds to variant rs34114277 [ dbSNP | Ensembl ].
VAR_019588
Natural varianti630 – 6301D → G.
Corresponds to variant rs16931692 [ dbSNP | Ensembl ].
VAR_049241

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.1. human.

Polymorphism databases

DMDMi51316106.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

GGDB

GlycoGene database

Functional Glycomics Gateway - GTase

Probable polypeptide N-acetylgalactosaminyltransferase 8

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AJ271385 mRNA. Translation: CAB89199.1 .
BC140888 mRNA. Translation: AAI40889.1 .
BC140889 mRNA. Translation: AAI40890.1 .
CCDSi CCDS8533.1.
RefSeqi NP_059113.1. NM_017417.1.
UniGenei Hs.511985.

3D structure databases

ProteinModelPortali Q9NY28.
SMRi Q9NY28. Positions 146-628.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000252318.

Protein family/group databases

CAZyi CBM13. Carbohydrate-Binding Module Family 13.
GT27. Glycosyltransferase Family 27.

PTM databases

PhosphoSitei Q9NY28.

Polymorphism databases

DMDMi 51316106.

Proteomic databases

PaxDbi Q9NY28.
PRIDEi Q9NY28.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000252318 ; ENSP00000252318 ; ENSG00000130035 .
GeneIDi 26290.
KEGGi hsa:26290.
UCSCi uc001qne.1. human.

Organism-specific databases

CTDi 26290.
GeneCardsi GC12P004829.
HGNCi HGNC:4130. GALNT8.
HPAi HPA012638.
MIMi 606250. gene.
neXtProti NX_Q9NY28.
PharmGKBi PA28543.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0463.
GeneTreei ENSGT00670000097647.
HOGENOMi HOG000038228.
HOVERGENi HBG051699.
InParanoidi Q9NY28.
KOi K00710.
OMAi RCLQKTY.
OrthoDBi EOG7QVM2G.
PhylomeDBi Q9NY28.
TreeFami TF352661.

Enzyme and pathway databases

UniPathwayi UPA00378 .
Reactomei REACT_115606. O-linked glycosylation of mucins.

Miscellaneous databases

ChiTaRSi GALNT8. human.
GenomeRNAii 26290.
NextBioi 48631.
PROi Q9NY28.
SOURCEi Search...

Gene expression databases

Bgeei Q9NY28.
CleanExi HS_GALNT8.
ExpressionAtlasi Q9NY28. baseline.
Genevestigatori Q9NY28.

Family and domain databases

Gene3Di 3.90.550.10. 1 hit.
InterProi IPR001173. Glyco_trans_2-like.
IPR029044. Nucleotide-diphossugar_trans.
IPR000772. Ricin_B_lectin.
[Graphical view ]
Pfami PF00535. Glycos_transf_2. 1 hit.
PF00652. Ricin_B_lectin. 1 hit.
[Graphical view ]
SMARTi SM00458. RICIN. 1 hit.
[Graphical view ]
SUPFAMi SSF50370. SSF50370. 1 hit.
SSF53448. SSF53448. 1 hit.
PROSITEi PS50231. RICIN_B_LECTIN. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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].

Entry informationi

Entry nameiGALT8_HUMAN
AccessioniPrimary (citable) accession number: Q9NY28
Secondary accession number(s): B2RU02
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: October 1, 2000
Last modified: October 29, 2014
This is version 107 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 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

External Data

Dasty 3