GALNT5 polypeptide N-acetylgalactosaminyltransferase 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GALNT5provided by HGNC
Official Full Name: polypeptide N-acetylgalactosaminyltransferase 5provided by HGNC
Primary source: HGNC:HGNC:4127
See related: Ensembl:ENSG00000136542 MIM:615129; AllianceGenome:HGNC:4127
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: GALNACT5; GALNAC-T5
Summary: The protein encoded by this gene is a membrane-bound polypeptide N-acetylgalactosaminyltransferase that is found in the Golgi. The encoded protein catalyzes the first step in the mucin-type O-glycosylation of Golgi proteins, transfering an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. [provided by RefSeq, Aug 2016]
Expression: Biased expression in colon (RPKM 10.1), lung (RPKM 7.0) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q24.1

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (157257705..157318491)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (157710672..157771631)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (158114217..158175003)

Chromosome 2 - NC_000002.12 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?

Oncogenic GALNT5 confers FOLFIRINOX resistance via activating the MYH9/ NOTCH/ DDR axis in pancreatic ductal adenocarcinoma.
Title: Oncogenic GALNT5 confers FOLFIRINOX resistance via activating the MYH9/ NOTCH/ DDR axis in pancreatic ductal adenocarcinoma.
The 5'-end stem-loop motifs of GALNT5 uaRNA promoted the binding of HSP90.
Title: GALNT5 uaRNA promotes gastric cancer progression through its interaction with HSP90.
miR-196b-5p inhibition led to significantly increased colorectal cancer cell migration/invasion and metastases formation in mice, whereas ectopic overexpression showed the opposite phenotype. Molecular profiling and target confirmation identified an interaction between miR-196b-5p and HOXB7 and GALNT5, which in turn regulated colorectal cancer cell migration
Title: miR-196b-5p Regulates Colorectal Cancer Cell Migration and Metastases through Interaction with HOXB7 and GALNT5.
Two identified candidate O-glycoprotein biomarkers (CD44 and GalNAc-T5) circulating with the STn glycoform were further validated as being expressed in gastric cancer tissue
Title: Probing the O-glycoproteome of gastric cancer cell lines for biomarker discovery.
of GalNAc-T5 expression in gastric cancer tissues might add some prognostic information for patients with this disease and lead to a more accurate classification under the TNM stage system
Title: Clinical significance of polypeptide N-acetylgalactosaminyl transferase-5 (GalNAc-T5) expression in patients with gastric cancer.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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

RH94272 (e-PCR)
- UniSTS:90645

SHGC-58330 (e-PCR)
- UniSTS:68424

SHGC-33719 (e-PCR)
- UniSTS:82575

D2S419 (e-PCR)
- UniSTS:148626

SHGC-132987 (e-PCR)
- UniSTS:170965

RH68879 (e-PCR)
- UniSTS:44501

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	IDA Inferred from Direct Assay 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 glycosaminoglycan biosynthetic process	TAS Traceable Author Statement more info	PubMed
involved_in protein O-linked glycosylation	IBA Inferred from Biological aspect of Ancestor more info

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
is_active_in cellular_component	ND No biological Data available more info

General protein information

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Preferred Names: polypeptide N-acetylgalactosaminyltransferase 5

Names: UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 5; UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5); polypeptide GalNAc transferase 5; pp-GaNTase 5; protein-UDP acetylgalactosaminyltransferase 5

NP_001316797.1

EC 2.4.1.41

NP_055383.1

EC 2.4.1.41

XP_016858726.1

EC 2.4.1.41

XP_016858727.1

EC 2.4.1.41

XP_047299026.1

EC 2.4.1.41

XP_054196268.1

EC 2.4.1.41

XP_054196269.1

EC 2.4.1.41

XP_054196270.1

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_001329868.2 → NP_001316797.1 polypeptide N-acetylgalactosaminyltransferase 5 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate exon compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AC016732, AY277591, BC142676, BC144211, BX117716

UniProtKB/Swiss-Prot

Q7Z7M9
NM_014568.3 → NP_055383.1 polypeptide N-acetylgalactosaminyltransferase 5 isoform 1

See identical proteins and their annotated locations for NP_055383.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC016732, AY277591, BC142676, BX117716

Consensus CDS

CCDS2203.1

UniProtKB/Swiss-Prot

A5PKZ1, Q7Z7M9, Q9UGK7, Q9UHL6

Related

ENSP00000259056.4, ENST00000259056.5

Conserved Domains (4) summary

cd02510
Location:499 → 800

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

COG0463
Location:494 → 609

WcaA; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]

cd00161
Location:812 → 934

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:810 → 932

Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

157257705..157318491

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017003237.3 → XP_016858726.1 polypeptide N-acetylgalactosaminyltransferase 5 isoform X1
XM_047443070.1 → XP_047299026.1 polypeptide N-acetylgalactosaminyltransferase 5 isoform X3
XM_017003238.3 → XP_016858727.1 polypeptide N-acetylgalactosaminyltransferase 5 isoform X2

UniProtKB/TrEMBL

A5PL16

RNA

XR_007068940.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

157710672..157771631

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054340295.1 → XP_054196270.1 polypeptide N-acetylgalactosaminyltransferase 5 isoform X3
XM_054340293.1 → XP_054196268.1 polypeptide N-acetylgalactosaminyltransferase 5 isoform X1
XM_054340294.1 → XP_054196269.1 polypeptide N-acetylgalactosaminyltransferase 5 isoform X2