GALNTL6 polypeptide N-acetylgalactosaminyltransferase like 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GALNTL6provided by HGNC
Official Full Name: polypeptide N-acetylgalactosaminyltransferase like 6provided by HGNC
Primary source: HGNC:HGNC:33844
See related: Ensembl:ENSG00000174473 MIM:615138; AllianceGenome:HGNC:33844
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GALNT17; GALNACT20; GalNAc-T6L
Summary: Enables polypeptide N-acetylgalactosaminyltransferase activity. Involved in protein O-linked glycosylation via threonine. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 4q34.1

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (171813404..173041559)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (175165678..176380965)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (172734555..173962710)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

The GALNTL6 Gene rs558129 Polymorphism Is Associated With Power Performance.
Title: The GALNTL6 Gene rs558129 Polymorphism Is Associated With Power Performance.
a novel member of the human ppGalNAc-T family, ppGalNAc-T20, which has high homology with human ppGalNAc-T10 was identified.
Title: Identification of a novel human UDP-GalNAc transferase with unique catalytic activity and expression profile.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Molecular genetics of successful smoking cessation: convergent genome-wide association study results.

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

SHGC-60068 (e-PCR)
- UniSTS:67072

D15S184 (e-PCR)
- UniSTS:55299

D4S621 (e-PCR), detects polymorphism
- UniSTS:51717

SHGC-36064 (e-PCR)
- UniSTS:43796

D1S1187 (e-PCR), detects polymorphism
- UniSTS:149285

SHGC-81461 (e-PCR)
- UniSTS:103215

D4S1078 (e-PCR)
- UniSTS:1338

G33873 (e-PCR)
- UniSTS:11843

G16727 (e-PCR)
- UniSTS:34380

D4S622 (e-PCR)
- UniSTS:49743

SHGC-12082 (e-PCR)
- UniSTS:73810

D4S1001 (e-PCR)
- UniSTS:14426

D4S945 (e-PCR)
- UniSTS:38505

GDB:229343 (e-PCR)
- UniSTS:156269

SHGC-24215 (e-PCR)
- UniSTS:36480

D4S621 (e-PCR), detects polymorphism
- UniSTS:87173

SHGC-51544 (e-PCR)
- UniSTS:38790

G16814 (e-PCR)
- UniSTS:53126

G62936 (e-PCR)
- UniSTS:139911

SHGC4-1560 (e-PCR)
- UniSTS:6029

SHGC-78752 (e-PCR)
- UniSTS:95635

RH122588 (e-PCR)
- UniSTS:138651

D4S1162 (e-PCR)
- UniSTS:60060

G33762 (e-PCR)
- UniSTS:47021

SHGC-50373 (e-PCR)
- UniSTS:17070

RH119511 (e-PCR)
- UniSTS:133552

A008X29 (e-PCR)
- UniSTS:25265

AFMA183XE9 (e-PCR)
- UniSTS:13771

WI-21847 (e-PCR)
- UniSTS:26066

SHGC-50730 (e-PCR)
- UniSTS:27095

D4S1068 (e-PCR)
- UniSTS:60383

D4S2328 (e-PCR)
- UniSTS:29923

D4S612 (e-PCR)
- UniSTS:48615

SHGC-105269 (e-PCR)
- UniSTS:173814

D4S621 (e-PCR), detects polymorphism
- UniSTS:70140

G16816 (e-PCR)
- UniSTS:16893

SHGC-81371 (e-PCR)
- UniSTS:103165

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

Process	Evidence Code	Pubs
involved_in protein O-linked glycosylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein O-linked glycosylation via threonine	IDA Inferred from Direct Assay 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	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: polypeptide N-acetylgalactosaminyltransferase-like 6

Names: GaNTase 17; GalNAc transferase 17; UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 17; UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 20; UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6; galNAc-T17; polypeptide GalNAc transferase 17; polypeptide GalNAc transferase-like 6; pp-GaNTase 17; protein-UDP acetylgalactosaminyltransferase 17; putative polypeptide N-acetylgalactosaminyltransferase 17

NP_001030017.2

EC 2.4.1.41

XP_011530295.1

EC 2.4.1.41

XP_011530296.1

EC 2.4.1.41

XP_011530297.1

EC 2.4.1.41

XP_011530298.1

EC 2.4.1.41

XP_011530299.1

EC 2.4.1.41

XP_016863732.1

EC 2.4.1.41

XP_016863733.1

EC 2.4.1.41

XP_054206062.1

EC 2.4.1.41

XP_054206063.1

EC 2.4.1.41

XP_054206064.1

EC 2.4.1.41

XP_054206065.1

EC 2.4.1.41

XP_054206066.1

EC 2.4.1.41

XP_054206067.1

EC 2.4.1.41

XP_054206068.1

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_001034845.3 → NP_001030017.2 polypeptide N-acetylgalactosaminyltransferase-like 6

See identical proteins and their annotated locations for NP_001030017.2

Status: VALIDATED

Source sequence(s)

AC025561, AC131952, AJ626725, BX108658

Consensus CDS

CCDS34104.1

UniProtKB/Swiss-Prot

Q2L4S6, Q49A17

UniProtKB/TrEMBL

E5D8G0

Related

ENSP00000423313.1, ENST00000506823.6

Conserved Domains (4) summary

cd02510
Location:143 → 438

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

cd00161
Location:456 → 584

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:454 → 582

Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

pfam13641
Location:140 → 365

Glyco_tranf_2_3; Glycosyltransferase like family 2

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_000004.12 Reference GRCh38.p14 Primary Assembly

Range

171813404..173041559

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017008243.3 → XP_016863732.1 polypeptide N-acetylgalactosaminyltransferase-like 6 isoform X4
XM_017008244.3 → XP_016863733.1 polypeptide N-acetylgalactosaminyltransferase-like 6 isoform X5

Related

ENSP00000423827.1, ENST00000508122.5
XM_011531993.3 → XP_011530295.1 polypeptide N-acetylgalactosaminyltransferase-like 6 isoform X1

See identical proteins and their annotated locations for XP_011530295.1

Conserved Domains (4) summary

cd02510
Location:64 → 359

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

cd00161
Location:377 → 505

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:375 → 503

Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

pfam13641
Location:61 → 286

Glyco_tranf_2_3; Glycosyltransferase like family 2
XM_011531996.2 → XP_011530298.1 polypeptide N-acetylgalactosaminyltransferase-like 6 isoform X2

See identical proteins and their annotated locations for XP_011530298.1

Conserved Domains (3) summary

cd02510
Location:34 → 288

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

cd00161
Location:306 → 434

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:304 → 432

Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
XM_011531994.2 → XP_011530296.1 polypeptide N-acetylgalactosaminyltransferase-like 6 isoform X2

See identical proteins and their annotated locations for XP_011530296.1

Conserved Domains (3) summary

cd02510
Location:34 → 288

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

cd00161
Location:306 → 434

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:304 → 432

Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
XM_011531995.2 → XP_011530297.1 polypeptide N-acetylgalactosaminyltransferase-like 6 isoform X2

See identical proteins and their annotated locations for XP_011530297.1

Conserved Domains (3) summary

cd02510
Location:34 → 288

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

cd00161
Location:306 → 434

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:304 → 432

Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
XM_011531997.2 → XP_011530299.1 polypeptide N-acetylgalactosaminyltransferase-like 6 isoform X3

Conserved Domains (3) summary

cd02510
Location:2 → 255

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

cd00161
Location:273 → 401

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:271 → 399

Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

Alternate T2T-CHM13v2.0

Genomic

NC_060928.1 Alternate T2T-CHM13v2.0

Range

175165678..176380965

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054350092.1 → XP_054206067.1 polypeptide N-acetylgalactosaminyltransferase-like 6 isoform X4
XM_054350093.1 → XP_054206068.1 polypeptide N-acetylgalactosaminyltransferase-like 6 isoform X5
XM_054350087.1 → XP_054206062.1 polypeptide N-acetylgalactosaminyltransferase-like 6 isoform X1
XM_054350090.1 → XP_054206065.1 polypeptide N-acetylgalactosaminyltransferase-like 6 isoform X2
XM_054350088.1 → XP_054206063.1 polypeptide N-acetylgalactosaminyltransferase-like 6 isoform X2
XM_054350089.1 → XP_054206064.1 polypeptide N-acetylgalactosaminyltransferase-like 6 isoform X2
XM_054350091.1 → XP_054206066.1 polypeptide N-acetylgalactosaminyltransferase-like 6 isoform X3