Reviewed, UniProtKB/Swiss-Prot Q9HCQ5 (GALT9_HUMAN)

Names and origin

Protein names

Recommended name:
    Polypeptide N-acetylgalactosaminyltransferase 9
    EC=2.4.1.41
Alternative name(s):
    Polypeptide GalNAc transferase 9
      Short name=pp-GaNTase 9
      Short name=GalNAc-T9
    Protein-UDP acetylgalactosaminyltransferase 9
    UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 9

Gene names

Name:

GALNT9

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	603 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Function	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. Does not glycosylate apomucin or SDC3.
Catalytic activity	UDP-N-acetyl-D-galactosamine + polypeptide = UDP + N-acetyl-D-galactosaminyl-polypeptide. Ref.4
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	Specifically expressed in brain. Not expressed in heart, placenta, lung, liver, skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon and leukocyte. In brain, it is expressed in cerebellum, frontal lobe, temporal lobe, putamen and spinal cord, weakly expressed in cerebral cortex. Not expressed in medulla and occipital pole. 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	Alternative splicing
Domain	Signal-anchor Transmembrane
Ligand	Calcium Lectin Manganese
Molecular function	Glycosyltransferase Transferase
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	protein amino acid O-linked glycosylation Ref.1 Non-traceable author statement. Source: UniProtKB
Cellular component	Golgi apparatus Inferred from electronic annotation. Source: UniProtKB-KW integral to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	calcium ion binding Inferred from electronic annotation. Source: UniProtKB-KW manganese ion binding Inferred from electronic annotation. Source: UniProtKB-KW polypeptide N-acetylgalactosaminyltransferase activity Ref.1 Non-traceable author statement. Source: UniProtKB protein binding Inferred from electronic annotation. Source: InterPro sugar binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9HCQ5-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9HCQ5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-366: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 603	603	Polypeptide N-acetylgalactosaminyltransferase 9		PRO_0000059120
Regions
	Topological domain	1 – 6	6	Cytoplasmic Potential
	Transmembrane	7 – 29	23	Signal-anchor for type II membrane protein Potential
	Topological domain	30 – 603	574	Lumenal Potential
	Domain	464 – 600	137	Ricin B-type lectin
	Region	150 – 261	112	Catalytic subdomain A
	Region	318 – 380	63	Catalytic subdomain B
Amino acid modifications
	Glycosylation	460	1	N-linked (GlcNAc...) Potential
	Disulfide bond	477 ↔ 493		By similarity
	Disulfide bond	525 ↔ 540		By similarity
	Disulfide bond	567 ↔ 587		By similarity
Natural variations
	Alternative sequence	1 – 366	366	Missing in isoform 2.		VSP_011206
Experimental info
	Sequence conflict	539	1	K → R in BAB13699. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 3, 2007. Version 3. Checksum: 4B5888733D8577CF	FASTA	603	68,359
	10 20 30 40 50 60 MAVARKIRTL LTVNILVFVG IVLFSVYCRL QGRSQELVRI VSGDRRVRSR HAKVGTLGDR 70 80 90 100 110 120 EAILQRLDHL EEVVYNQLNG LAKPIGLVEG PGGLGQGGLA ATLRDDGQEA EGKYEEYGYN 130 140 150 160 170 180 AQLSDRISLD RSIPDYRPRK CRQMSYAQDL PQVSVVFIFV NEALSVILRS VHSVVNHTPS 190 200 210 220 230 240 QLLKEVILVD DNSDNVELKF NLDQYVNKRY PGLVKIVRNS RREGLIRARL QGWKAATAPV 250 260 270 280 290 300 VGFFDAHVEF NTGWAEPALS RIREDRRRIV LPAIDNIKYS TFEVQQYANA AHGYNWGLRC 310 320 330 340 350 360 MYIIPPQDWL DRGDESAPIR TPAMIGCSFV VDREYFGDIG LLDPGMEVYG GENVELGMRV 370 380 390 400 410 420 WQCGGSMEVL PCSRVAHIER TRKPYNNDID YYAKRNALRA AEVWMDDFKS HVYMAWNIPM 430 440 450 460 470 480 SNPGVDFGDV SERLALRQRL KCRSFKWYLE NVYPEMRVYN NTLTYGEVRN SKASAYCLDQ 490 500 510 520 530 540 GAEDGDRAIL YPCHGMSSQL VRYSADGLLQ LGPLGSTAFL PDSKCLVDDG TGRMPTLKKC 550 560 570 580 590 600 EDVARPTQRL WDFTQSGPIV SRATGRCLEV EMSKDANFGL RLVVQRCSGQ KWMIRNWIKH ARH
	Isoform 2. Checksum: 5484F64E65F6F6DA	FASTA	237	27,211
	10 20 30 40 50 60 MEVLPCSRVA HIERTRKPYN NDIDYYAKRN ALRAAEVWMD DFKSHVYMAW NIPMSNPGVD 70 80 90 100 110 120 FGDVSERLAL RQRLKCRSFK WYLENVYPEM RVYNNTLTYG EVRNSKASAY CLDQGAEDGD 130 140 150 160 170 180 RAILYPCHGM SSQLVRYSAD GLLQLGPLGS TAFLPDSKCL VDDGTGRMPT LKKCEDVARP 190 200 210 220 230 TQRLWDFTQS GPIVSRATGR CLEVEMSKDA NFGLRLVVQR CSGQKWMIRN WIKHARH

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Brain-specific expression of a novel human UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T9)." Toba S., Tenno M., Konishi M., Mikami T., Itoh N., Kurosaka A. Biochim. Biophys. Acta 1493:264-268(2000) [PubMed: 10978536] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY. Tissue: Brain.
[2]	Guo J.H., Zan Q., Yu L. Submitted (DEC-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Kidney.
[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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Colon.
[4]	"Cloning and characterization of a new human UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase, designated pp-GalNAc-T13, that is specifically expressed in neurons and synthesizes GalNAc alpha-serine/threonine antigen." Zhang Y., Iwasaki H., Wang H., Kudo T., Kalka T.B., Hennet T., Kubota T., Cheng L., Inaba N., Gotoh M., Togayachi A., Guo J.-M., Hisatomi H., Nakajima K., Nishihara S., Nakamura M., Marth J.D., Narimatsu H. J. Biol. Chem. 278:573-584(2003) [PubMed: 12407114] [Abstract] Cited for: ENZYME ACTIVITY.

Web resources

GGDB

GlycoGene database

Functional Glycomics Gateway - GTase

Polypeptide N-acetylgalactosaminyltransferase 9

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB040672 mRNA. Translation: BAB13699.2. AF458594 mRNA. Translation: AAM49722.1. BC093817 mRNA. Translation: AAH93817.2. BC093819 mRNA. Translation: AAH93819.2.
IPI	IPI00455275. IPI00455276.
RefSeq	NP_001116108.1. NP_068580.2.
UniGene	Hs.301062 Hs.658249
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q9HCQ5.
Protein family/group databases
CAZy	CBM13. Carbohydrate-Binding Module Family 13. GT27. Glycosyltransferase Family 27.
Genome annotation databases
Ensembl	ENST00000328957; ENSP00000329846; ENSG00000182870; Homo sapiens. [Genome view]
GeneID	50614.
KEGG	hsa:50614.
UCSC	uc001uka.1. human. uc001ukc.2. human.
Organism-specific databases
CTD	50614.
GeneCards	GC12M131177.
H-InvDB	HIX0019933.
HGNC	HGNC:4131. GALNT9.
MIM	606251. gene.
PharmGKB	PA28544.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG08226.
HOGENOM	HBG715048.
HOVERGEN	Q9HCQ5.
InParanoid	Q9HCQ5.
Enzyme and pathway databases
BRENDA	2.4.1.41. 247.
Gene expression databases
ArrayExpress	Q9HCQ5.
Bgee	Q9HCQ5.
CleanEx	HS_GALNT9.
Genevestigator	Q9HCQ5.
GermOnline	ENSG00000182870. Homo sapiens.
Family and domain databases
InterPro	IPR001173. Glyco_trans_2. IPR008997. Ricin_B-rel_lectin. IPR000772. Ricin_B_lectin. IPR001202. WW_Rsp5_WWP. [Graphical view]
Pfam	PF00535. Glycos_transf_2. 1 hit. PF00652. Ricin_B_lectin. 1 hit. [Graphical view]
SMART	SM00458. RICIN. 1 hit. [Graphical view]
PROSITE	PS50231. RICIN_B_LECTIN. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	53114.
SOURCE	Search...

Entry information

Entry name

GALT9_HUMAN

Accession

Primary (citable) accession number: Q9HCQ5
Secondary accession number(s): Q52LR8, Q6NT54, Q8NFR1

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 16, 2004
Last sequence update:	April 3, 2007
Last modified:	January 19, 2010
This is version 73 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.