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GGTA1 glycoprotein alpha-galactosyltransferase 1 (inactive) [ Homo sapiens (human) ]

Gene ID: 2681, updated on 30-Mar-2024

Summary

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Official Symbol
GGTA1provided by HGNC
Official Full Name
glycoprotein alpha-galactosyltransferase 1 (inactive)provided by HGNC
Primary source
HGNC:HGNC:4253
See related
Ensembl:ENSG00000204136 MIM:104175; AllianceGenome:HGNC:4253
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
GGTA; GLYT2; GGTA1P; a1/3GTP
Summary
Alpha-1,3-galactosyltransferase (GGTA1) is an enzyme present in most mammals except man, apes, and Old World monkeys. This gene is thought to encode a truncated, non-enzymatic form of the GGTA1 protein that lacks the C-terminal catalytic domain. Aberrant expression of the GGTA1 protein in man can lead to autoimmune diseases and sometimes germ cell tumors. [provided by RefSeq, May 2020]
Expression
Ubiquitous expression in salivary gland (RPKM 23.8), bone marrow (RPKM 17.7) and 24 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
9q33.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (121444990..121499844, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (133641013..133695883, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (124207268..124262123, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene gelsolin Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:124043752-124044951 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:124047035-124047535 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:124048350-124049549 Neighboring gene Sharpr-MPRA regulatory region 178 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:124056667-124057289 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:124061747-124062407 Neighboring gene GSN antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:124089303-124090216 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28922 Neighboring gene uncharacterized LOC102723324 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:124132533-124133493 Neighboring gene stomatin Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:124148517-124149463 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:124215525-124216026 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:124216027-124216526 Neighboring gene NANOG hESC enhancer GRCh37_chr9:124234601-124235163 Neighboring gene Sharpr-MPRA regulatory region 3911 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20236 Neighboring gene RNA, 7SL, cytoplasmic 187, pseudogene Neighboring gene uncharacterized LOC107987016 Neighboring gene high mobility group box 1 pseudogene 37 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20237 Neighboring gene Sharpr-MPRA regulatory region 14365

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Frameshift and nonsense mutations in a human genomic sequence homologous to a murine UDP-Gal:beta-D-Gal(1,4)-D-GlcNAc alpha(1,3)-galactosyltransferase cDNA. Larsen RD, et al. J Biol Chem, 1990 Apr 25. PMID 2108966
  2. Assignment of two human alpha-1,3-galactosyltransferase gene sequences (GGTA1 and GGTA1P) to chromosomes 9q33-q34 and 12q14-q15. Shaper NL, et al. Genomics, 1992 Mar. PMID 1559713
  3. Functionally important glycosyltransferase gain and loss during catarrhine primate emergence. Koike C, et al. Proc Natl Acad Sci U S A, 2007 Jan 9. PMID 17194757, Free PMC Article
  4. N-linked glycan profiling of GGTA1/CMAH knockout pigs identifies new potential carbohydrate xenoantigens. Burlak C, et al. Xenotransplantation, 2013 Sep-Oct. PMID 24033743, Free PMC Article
  5. A complete alpha1,3-galactosyltransferase gene is present in the human genome and partially transcribed. Lantéri M, et al. Glycobiology, 2002 Dec. PMID 12499400

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. GGTA1/CMAH knockout pig samples had increased relative amounts of high-mannose, incomplete, and xylosylated N-linked glycans
    Title: N-linked glycan profiling of GGTA1/CMAH knockout pigs identifies new potential carbohydrate xenoantigens.
  2. A transcription of the complete gene sequence for this enzyme
    Title: A complete alpha1,3-galactosyltransferase gene is present in the human genome and partially transcribed.
  3. Molecular basis of evolutionary loss of the alpha 1,3-galactosyltransferase gene
    Title: Molecular basis of evolutionary loss of the alpha 1,3-galactosyltransferase gene in higher primates.
Submit: New GeneRIF Correction

Phenotypes

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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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC48635

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
involved_in leukotriene D4 biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in Golgi cisterna ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in Golgi cisterna membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in cellular_component ND
No biological Data available
more info
  

General protein information

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Preferred Names
inactive N-acetyllactosaminide alpha-1,3-galactosyltransferase
Names
glycoprotein alpha-galactosyltransferase 1, pseudogene
glycoprotein, alpha-galactosyltransferase 1
NP_001369513.1
NP_001369514.1
NP_001369515.1
NP_001369516.1

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_001382584.1 → NP_001369513.1  inactive N-acetyllactosaminide alpha-1,3-galactosyltransferase

    Status: REVIEWED

    Source sequence(s)
    AL359644
    Consensus CDS
    CCDS94476.1
    UniProtKB/Swiss-Prot
    A2JVH9, Q4G0N0
    UniProtKB/TrEMBL
    A0A7I2V4B2
    Related
    ENSP00000504423.1, ENST00000373793.3

  2. NM_001382585.1 → NP_001369514.1  inactive N-acetyllactosaminide alpha-1,3-galactosyltransferase

    Status: REVIEWED

    Source sequence(s)
    AL359644
    Consensus CDS
    CCDS94476.1
    UniProtKB/Swiss-Prot
    A2JVH9, Q4G0N0
    UniProtKB/TrEMBL
    A0A7I2V4B2
    Related
    ENSP00000502991.1, ENST00000481799.6

  3. NM_001382586.1 → NP_001369515.1  inactive N-acetyllactosaminide alpha-1,3-galactosyltransferase

    Status: REVIEWED

    Source sequence(s)
    AL359644
    Consensus CDS
    CCDS94476.1
    UniProtKB/Swiss-Prot
    A2JVH9, Q4G0N0
    UniProtKB/TrEMBL
    A0A7I2V4B2

  4. NM_001382587.1 → NP_001369516.1  inactive N-acetyllactosaminide alpha-1,3-galactosyltransferase

    Status: REVIEWED

    Source sequence(s)
    AL359644
    Consensus CDS
    CCDS94476.1
    UniProtKB/Swiss-Prot
    A2JVH9, Q4G0N0
    UniProtKB/TrEMBL
    A0A7I2V4B2

RNA

  1. NR_168459.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL359644
    Related
    ENST00000481534.5

  2. NR_168460.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL359644

  3. NR_168461.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL359644

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    121444990..121499844 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    133641013..133695883 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q4G0N0.2 GenPept UniProtKB/Swiss-Prot:Q4G0N0

Gene LinkOut

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Chemical Information
Molecular Biology Databases
Research Materials
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