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

    Gene ID: 2681, updated on 27-Nov-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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    See GGTA1 in Genome Data Viewer
    Location:
    9q33.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (121444990..121499844, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (133641013..133695883, complement)
    RS_2024_09 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)

    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

    Process Evidence Code Pubs
    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
    		  

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials