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GALNT8 polypeptide N-acetylgalactosaminyltransferase 8 [ Homo sapiens (human) ]

Gene ID: 26290, updated on 8-Jul-2021

Summary

Official Symbol
GALNT8provided by HGNC
Official Full Name
polypeptide N-acetylgalactosaminyltransferase 8provided by HGNC
Primary source
HGNC:HGNC:4130
See related
Ensembl:ENSG00000130035 MIM:606250
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
GALNAC-T8
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. [provided by RefSeq, Jul 2008]
Expression
Biased expression in colon (RPKM 8.3), small intestine (RPKM 6.0) and 3 other tissues See more
Orthologs
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Genomic context

See GALNT8 in Genome Data Viewer
Location:
12p13.32
Exon count:
11
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (4720400..4772726)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (4829566..4881892)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene NADH:ubiquinone oxidoreductase subunit A9 Neighboring gene GALNT8 antisense upstream 1 Neighboring gene uncharacterized LOC105369614 Neighboring gene potassium voltage-gated channel subfamily A member 6 Neighboring gene Sharpr-MPRA regulatory region 168

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Potential readthrough

Included gene: NDUFA9

Homology

Clone Names

  • FLJ17364

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 TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
involved_in O-glycan processing TAS
Traceable Author Statement
more info
 
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
probable polypeptide N-acetylgalactosaminyltransferase 8
Names
GalNAc transferase 8
UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase 8
UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)
polypeptide GalNAc transferase 8
pp-GaNTase 8
protein-UDP acetylgalactosaminyltransferase 8
NP_059113.1

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_017417.2NP_059113.1  probable polypeptide N-acetylgalactosaminyltransferase 8

    See identical proteins and their annotated locations for NP_059113.1

    Status: REVIEWED

    Source sequence(s)
    AC005833, AJ271385
    Consensus CDS
    CCDS8533.1
    UniProtKB/Swiss-Prot
    Q9NY28
    Related
    ENSP00000252318.2, ENST00000252318.7
    Conserved Domains (3) summary
    cd02510
    Location:184485
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    cd00161
    Location:498624
    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 ...
    cl25732
    Location:48161
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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
    4720400..4772726
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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