Q9NY28 (GALT8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:

GALNT8

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	637 AA.
Sequence status	Complete.
Protein existence	Evidence 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. Calcium 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.

Ontologies

Keywords
Cellular component	Golgi apparatus Membrane
Coding sequence diversity	Polymorphism
Domain	Signal-anchor Transmembrane Transmembrane helix
Ligand	Calcium Lectin Manganese
Molecular function	Glycosyltransferase Transferase
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	O-glycan processing Traceable author statement. Source: Reactome post-translational protein modification Traceable author statement. Source: Reactome
Cellular_component	Golgi membrane Traceable author statement. Source: Reactome integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	polypeptide N-acetylgalactosaminyltransferase activity Traceable author statement Ref.1. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 637	637	Probable polypeptide N-acetylgalactosaminyltransferase 8		PRO_0000059119
Regions
	Topological domain	1 – 6	6	Cytoplasmic Potential
	Transmembrane	7 – 29	23	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	30 – 637	608	Lumenal Potential
	Domain	496 – 634	139	Ricin B-type lectin
	Region	180 – 294	115	Catalytic subdomain A
	Region	351 – 412	62	Catalytic subdomain B
Amino acid modifications
	Glycosylation	85	1	N-linked (GlcNAc...) Potential
	Glycosylation	107	1	N-linked (GlcNAc...) Potential
	Glycosylation	160	1	N-linked (GlcNAc...) Potential
	Disulfide bond	509 ↔ 525		By similarity
	Disulfide bond	556 ↔ 571		By similarity
	Disulfide bond	599 ↔ 617		By similarity
Natural variations
	Natural variant	53	1	Y → D. Corresponds to variant rs10849133 [ dbSNP | Ensembl ].		VAR_019581
	Natural variant	53	1	Y → N. Ref.1		VAR_019582
	Natural variant	234	1	E → K. Corresponds to variant rs16931676 [ dbSNP | Ensembl ].		VAR_033947
	Natural variant	267	1	E → G. Ref.1 Corresponds to variant rs34776842 [ dbSNP | Ensembl ].		VAR_019583
	Natural variant	312	1	F → S. Ref.1 Corresponds to variant rs34829532 [ dbSNP | Ensembl ].		VAR_019584
	Natural variant	337	1	A → V. Ref.1		VAR_019585
	Natural variant	438	1	D → G. Ref.1		VAR_019586
	Natural variant	515	1	V → F. Ref.1 Corresponds to variant rs1468556 [ dbSNP | Ensembl ].		VAR_019587
	Natural variant	611	1	V → M. Ref.1 Corresponds to variant rs34114277 [ dbSNP | Ensembl ].		VAR_019588
	Natural variant	630	1	D → G. Corresponds to variant rs16931692 [ dbSNP | Ensembl ].		VAR_049241

Sequences

	Sequence		Length	Mass (Da)
	Q9NY28 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: 4C8BA5DC9A9A1F64	FASTA	637	72,851
	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

References

	« Hide 'large scale' referencesShow '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.
IPI	IPI00010101.
RefSeq	NP_059113.1. NM_017417.1.
UniGene	Hs.511985.
3D structure databases
ProteinModelPortal	Q9NY28.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000252318.
Protein family/group databases
CAZy	CBM13. Carbohydrate-Binding Module Family 13. GT27. Glycosyltransferase Family 27.
PTM databases
PhosphoSite	Q9NY28.
Polymorphism databases
DMDM	51316106.
Proteomic databases
PaxDb	Q9NY28.
PRIDE	Q9NY28.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000252318; ENSP00000252318; ENSG00000130035.
GeneID	26290.
KEGG	hsa:26290.
UCSC	uc001qne.1. human.
Organism-specific databases
CTD	26290.
GeneCards	GC12P004829.
HGNC	HGNC:4130. GALNT8.
HPA	HPA012638.
MIM	606250. gene.
neXtProt	NX_Q9NY28.
PharmGKB	PA28543.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0463.
HOGENOM	HOG000038228.
HOVERGEN	HBG051699.
InParanoid	Q9NY28.
KO	K00710.
OMA	HHKPYAL.
OrthoDB	EOG4DNF4F.
PhylomeDB	Q9NY28.
Enzyme and pathway databases
Reactome	REACT_17015. Metabolism of proteins.
UniPathway	UPA00378.
Gene expression databases
ArrayExpress	Q9NY28.
Bgee	Q9NY28.
CleanEx	HS_GALNT8.
Genevestigator	Q9NY28.
GermOnline	ENSG00000130035. Homo sapiens.
Family and domain databases
InterPro	IPR001173. Glyco_trans_2. IPR000772. Ricin_B_lectin. [Graphical view]
Pfam	PF00535. Glycos_transf_2. 1 hit. PF00652. Ricin_B_lectin. 1 hit. [Graphical view]
SMART	SM00458. RICIN. 1 hit. [Graphical view]
SUPFAM	SSF50370. RicinB_like. 1 hit.
PROSITE	PS50231. RICIN_B_LECTIN. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	GALNT8. human.
GenomeRNAi	26290.
NextBio	48631.
SOURCE	Search...

Entry information

Entry name

GALT8_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 95 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.