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

Gene ID: 2681, updated on 29-Oct-2022

Summary

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
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Genomic context

See GGTA1 in Genome Data Viewer
Location:
9q33.2
Exon count:
11
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (121444990..121499844, complement)
110 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 stomatin Neighboring gene uncharacterized LOC102723324 Neighboring gene Sharpr-MPRA regulatory region 3911 Neighboring gene RNA, 7SL, cytoplasmic 187, pseudogene Neighboring gene uncharacterized LOC107987016 Neighboring gene high mobility group box 1 pseudogene 37 Neighboring gene Sharpr-MPRA regulatory region 14365

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC48635

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables hexosyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
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 carbohydrate metabolic process IEA
Inferred from Electronic Annotation
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

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

    Status: REVIEWED

    Source sequence(s)
    AL359644
    Consensus CDS
    CCDS94476.1
    UniProtKB/Swiss-Prot
    A2JVH9
    Related
    ENSP00000504423.1, ENST00000373793.3
  2. NM_001382585.1NP_001369514.1  inactive N-acetyllactosaminide alpha-1,3-galactosyltransferase

    Status: REVIEWED

    Source sequence(s)
    AL359644
    Consensus CDS
    CCDS94476.1
    UniProtKB/Swiss-Prot
    A2JVH9
    Related
    ENSP00000502991.1, ENST00000481799.6
  3. NM_001382586.1NP_001369515.1  inactive N-acetyllactosaminide alpha-1,3-galactosyltransferase

    Status: REVIEWED

    Source sequence(s)
    AL359644
    Consensus CDS
    CCDS94476.1
    UniProtKB/Swiss-Prot
    A2JVH9
  4. NM_001382587.1NP_001369516.1  inactive N-acetyllactosaminide alpha-1,3-galactosyltransferase

    Status: REVIEWED

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

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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)