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

Gene ID: 50614, updated on 23-Nov-2021

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
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
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Genomic context

See GALNT9 in Genome Data Viewer
Location:
12q24.33
Exon count:
13
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (132196372..132329589, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (132680917..132906175, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370090 Neighboring gene uncharacterized LOC107984456 Neighboring gene long intergenic non-protein coding RNA 2361 Neighboring gene uncharacterized LOC105370091 Neighboring gene MS43a minisatellite repeat instability region Neighboring gene uncharacterized LOC100130238 Neighboring gene uncharacterized LOC101928416 Neighboring gene uncharacterized LOC105370092

Genomic regions, transcripts, and products

Expression

  • Project title: 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 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 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
PubMed 
located_in Golgi membrane TAS
Traceable Author Statement
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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
NP_068580.2

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)

  1. NM_001122636.2NP_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
    Q9HCQ5
    UniProtKB/TrEMBL
    J3KNN1
    Related
    ENSP00000329846.8, ENST00000328957.13
    Conserved Domains (3) summary
    cd02510
    Location:154453
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    cd00161
    Location:466594
    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:464592
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
  2. NM_021808.3NP_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:98226
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
    cl11394
    Location:187
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    132196372..132329589 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_021160007.1 Reference GRCh38.p13 PATCHES

    Range
    103401..235949 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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