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TSTA3 tissue specific transplantation antigen P35B [ Homo sapiens (human) ]

Gene ID: 7264, updated on 11-Sep-2019

Summary

Official Symbol
TSTA3provided by HGNC
Official Full Name
tissue specific transplantation antigen P35Bprovided by HGNC
Primary source
HGNC:HGNC:12390
See related
Ensembl:ENSG00000104522 MIM:137020
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
FX; P35B; SDR4E1
Summary
Tissue specific transplantation antigen P35B is a NADP(H)-binding protein. It catalyze the two-step epimerase and the reductase reactions in GDP-D-mannose metabolism, converting GDP-4-keto-6-D-deoxymannose to GDP-L-fucose. GDP-L-fucose is the substrate of several fucosyltransferases involved in the expression of many glycoconjugates, including blood group ABH antigens and developmental adhesion antigens. Mutations in this gene may cause leukocyte adhesion deficiency, type II. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in stomach (RPKM 48.7), skin (RPKM 31.8) and 25 other tissues See more
Orthologs

Genomic context

See TSTA3 in Genome Data Viewer
Location:
8q24.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (143612618..143618043, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (144694788..144700358, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene eukaryotic translation elongation factor 1 delta Neighboring gene tigger transposable element derived 5 Neighboring gene pyrroline-5-carboxylate reductase 3 Neighboring gene uncharacterized LOC105375798 Neighboring gene zinc finger protein 623

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

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human GDP-L-fucose synthase (TSTA3: tissue specific transplantation antigen P35B) at amino acid residues 40-41 by the HIV-1 protease PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GDP-4-dehydro-D-rhamnose reductase activity TAS
Traceable Author Statement
more info
PubMed 
GDP-L-fucose synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GDP-L-fucose synthase activity IDA
Inferred from Direct Assay
more info
PubMed 
GDP-mannose 3,5-epimerase activity IDA
Inferred from Direct Assay
more info
PubMed 
coenzyme binding IEA
Inferred from Electronic Annotation
more info
 
electron transfer activity TAS
Traceable Author Statement
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
'de novo' GDP-L-fucose biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
'de novo' GDP-L-fucose biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
'de novo' GDP-L-fucose biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
GDP-mannose metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
T cell mediated cytotoxicity IEA
Inferred from Electronic Annotation
more info
 
electron transport chain IEA
Inferred from Electronic Annotation
more info
 
leukocyte cell-cell adhesion NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 

General protein information

Preferred Names
GDP-L-fucose synthase
Names
3-5 epimerase/4-reductase
GDP-4-keto-6-deoxy-D-mannose epimerase-reductase
GDP-4-keto-6-deoxy-D-mannose-3,5-epimerase-4-reductase
red cell NADP(H)-binding protein
short chain dehydrogenase/reductase family 4E, member 1
testis tissue sperm-binding protein Li 45a
tissue specific transplantation antigen 3
NP_001304712.1
NP_003304.1
XP_005251108.2
XP_011515571.1

NCBI Reference Sequences (RefSeq)

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_001317783.2NP_001304712.1  GDP-L-fucose synthase isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC067930, BC001941, BF223661, BG709420
    UniProtKB/Swiss-Prot
    Q13630
    Conserved Domains (2) summary
    cd05239
    Location:15318
    GDP_FS_SDR_e; GDP-fucose synthetase, extended (e) SDRs
    pfam01370
    Location:16251
    Epimerase; NAD dependent epimerase/dehydratase family
  2. NM_003313.4NP_003304.1  GDP-L-fucose synthase isoform 2

    See identical proteins and their annotated locations for NP_003304.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream translation start site compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    BC093061, BF223661, CB132195
    Consensus CDS
    CCDS6408.1
    UniProtKB/Swiss-Prot
    Q13630
    UniProtKB/TrEMBL
    A0A140VKC8
    Related
    ENSP00000398803.2, ENST00000425753.7
    Conserved Domains (1) summary
    cd05239
    Location:9312
    GDP_FS_SDR_e; GDP-fucose synthetase, extended (e) SDRs

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    143612618..143618043 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517269.1XP_011515571.1  GDP-L-fucose synthase isoform X1

    See identical proteins and their annotated locations for XP_011515571.1

    UniProtKB/Swiss-Prot
    Q13630
    UniProtKB/TrEMBL
    A0A140VKC8
    Conserved Domains (1) summary
    cd05239
    Location:9312
    GDP_FS_SDR_e; GDP-fucose synthetase, extended (e) SDRs
  2. XM_005251051.3XP_005251108.2  GDP-L-fucose synthase isoform X1

    See identical proteins and their annotated locations for XP_005251108.2

    UniProtKB/Swiss-Prot
    Q13630
    UniProtKB/TrEMBL
    A0A140VKC8
    Conserved Domains (1) summary
    cd05239
    Location:9312
    GDP_FS_SDR_e; GDP-fucose synthetase, extended (e) SDRs

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187571.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    102658..107589 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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