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GLT6D1 glycosyltransferase 6 domain containing 1 [ Homo sapiens (human) ]

Gene ID: 360203, updated on 23-Nov-2021

Summary

Official Symbol
GLT6D1provided by HGNC
Official Full Name
glycosyltransferase 6 domain containing 1provided by HGNC
Primary source
HGNC:HGNC:23671
See related
Ensembl:ENSG00000204007 MIM:613699
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
GT6M7; GLTDC1
Summary
The GT6 glycosyltransferases gene family, which includes the ABO blood group (ABO; MIM 110300) and GLT6D1, shows a complex evolution pattern, with multiple events of gain and loss in different mammal species. In humans, the ABO gene is considered the sole functional member, although the O allele is null and is fixed in certain populations (summary by Casals et al. (2009) [PubMed 19218399]).[supplied by OMIM, Jan 2011]
Expression
Restricted expression toward testis (RPKM 2.0) See more
Orthologs
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Genomic context

See GLT6D1 in Genome Data Viewer
Location:
9q34.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (135623648..135641224, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (138515494..138531386, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene progestagen associated endometrial protein pseudogene 1 Neighboring gene lipocalin 1-like Neighboring gene lipocalin 9 Neighboring gene uncharacterized LOC105376317 Neighboring gene uncharacterized LOC105376318

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?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study identifies GLT6D1 as a susceptibility locus for periodontitis.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Addition of peripheral sugar residues such as galactose, N-acetylglucosamine, and sialic acid to HIV-1 gp120 is processed by specific glycosyltransferase PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables glycosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables hexosyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in lipid glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
putative glycosyltransferase 6 domain-containing protein 1
Names
galactosyltransferase family 6 domain containing 1
glycosyltransferase 6 domain-containing protein 1
NP_892019.2
XP_011516935.1
XP_011516936.1
XP_011516937.1
XP_011516938.1
XP_011516939.1
XP_011516940.1
XP_024303302.1

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_182974.3NP_892019.2  putative glycosyltransferase 6 domain-containing protein 1 precursor

    See identical proteins and their annotated locations for NP_892019.2

    Status: VALIDATED

    Source sequence(s)
    AL354761, AY336054
    Consensus CDS
    CCDS43900.1
    UniProtKB/Swiss-Prot
    Q7Z4J2
    Related
    ENSP00000360829.1, ENST00000371763.6
    Conserved Domains (1) summary
    cl11394
    Location:42276
    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_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    135623648..135641224 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518636.2XP_011516938.1  putative glycosyltransferase 6 domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011516938.1

    Conserved Domains (1) summary
    cl11394
    Location:42312
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
  2. XM_024447534.1XP_024303302.1  putative glycosyltransferase 6 domain-containing protein 1 isoform X2

    Conserved Domains (1) summary
    cl11394
    Location:42276
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
  3. XM_011518634.2XP_011516936.1  putative glycosyltransferase 6 domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011516936.1

    Conserved Domains (1) summary
    cl11394
    Location:42312
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
  4. XM_011518635.2XP_011516937.1  putative glycosyltransferase 6 domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011516937.1

    Conserved Domains (1) summary
    cl11394
    Location:42312
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
  5. XM_011518637.2XP_011516939.1  putative glycosyltransferase 6 domain-containing protein 1 isoform X2

    See identical proteins and their annotated locations for XP_011516939.1

    Conserved Domains (1) summary
    cl11394
    Location:42276
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
  6. XM_011518633.2XP_011516935.1  putative glycosyltransferase 6 domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011516935.1

    Conserved Domains (1) summary
    cl11394
    Location:42312
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
  7. XM_011518638.2XP_011516940.1  putative glycosyltransferase 6 domain-containing protein 1 isoform X3

    Conserved Domains (1) summary
    cl11394
    Location:58244
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
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