GALNT9 polypeptide N-acetylgalactosaminyltransferase 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GALNT9provided by HGNC
Official Full Name: polypeptide N-acetylgalactosaminyltransferase 9provided by HGNC
Primary source: HGNC:HGNC:4131
See related: Ensembl:ENSG00000182870 MIM:606251; AllianceGenome:HGNC:4131
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GALNACT9; GALNAC-T9
Summary: This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Annotation information: Annotation category: suggests misassembly
Expression: Biased expression in brain (RPKM 5.0), thyroid (RPKM 1.4) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 12q24.33

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (132196372..132329589, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (132247641..132380739, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (132680917..132906175, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GALNT9 expression correlates with both improved overall survival in low- and high-risk groups and an improved clinical outcome (overall and disease-free survival) in low-risk patients
Title: GALNT9 gene expression is a prognostic marker in neuroblastoma patients.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH91189 (e-PCR)
- UniSTS:87057

SHGC-147548 (e-PCR)
- UniSTS:172829

NoName (e-PCR)
- UniSTS:483283

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables carbohydrate binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables polypeptide N-acetylgalactosaminyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables polypeptide N-acetylgalactosaminyltransferase activity	NAS Non-traceable Author Statement more info	PubMed
enables polypeptide N-acetylgalactosaminyltransferase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in O-glycan processing	TAS Traceable Author Statement more info
involved_in protein O-linked glycosylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein O-linked glycosylation	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: polypeptide N-acetylgalactosaminyltransferase 9

Names: GalNAc transferase 9; UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase 9; UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9); polypeptide GalNAc transferase 9; pp-GaNTase 9; protein-UDP acetylgalactosaminyltransferase 9

NP_001116108.1

EC 2.4.1.41

NP_068580.2

EC 2.4.1.41

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001122636.2 → NP_001116108.1 polypeptide N-acetylgalactosaminyltransferase 9 isoform A

See identical proteins and their annotated locations for NP_001116108.1

Status: REVIEWED

Description

Transcript Variant: This variant (A) represents the longer transcript and encodes the longer isoform (A).

Source sequence(s)

AB040672, AC148477, AF458594, BM672467, BM925654, CB154648, DA206384, DR001000

Consensus CDS

CCDS81755.1

UniProtKB/Swiss-Prot

Q52LR8, Q6NT54, Q8NFR1, Q9HCQ5

UniProtKB/TrEMBL

J3KNN1

Related

ENSP00000329846.8, ENST00000328957.13

Conserved Domains (3) summary

cd02510
Location:154 → 453

pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans

cd00161
Location:466 → 594

RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...

pfam00652
Location:464 → 592

Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
NM_021808.3 → NP_068580.2 polypeptide N-acetylgalactosaminyltransferase 9 isoform B

See identical proteins and their annotated locations for NP_068580.2

Status: REVIEWED

Description

Transcript Variant: This variant (B) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant A. The resulting isoform (B) has a shorter N-terminus compared to isoform A, and lacks the glycosyltransferase domain.

Source sequence(s)

AF458594, BC093817, BI760629, BM672467, CB154648, DA370980

Consensus CDS

CCDS41866.1

UniProtKB/Swiss-Prot

Q9HCQ5

Related

ENSP00000380488.2, ENST00000397325.6

Conserved Domains (2) summary

pfam00652
Location:98 → 226

Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

cl11394
Location:1 → 87

Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold