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SLC35A3 solute carrier family 35 member A3 [ Homo sapiens (human) ]

Gene ID: 23443, updated on 30-Nov-2017
Official Symbol
SLC35A3provided by HGNC
Official Full Name
solute carrier family 35 member A3provided by HGNC
Primary source
HGNC:HGNC:11023
See related
Ensembl:ENSG00000117620 MIM:605632; Vega:OTTHUMG00000010805
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
AMRS
Summary
This gene encodes a UDP-N-acetylglucosamine transporter found in the golgi apparatus membrane. In cattle, a missense mutation in this gene causes complex vertebral malformation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
Expression
Broad expression in colon (RPKM 21.3), duodenum (RPKM 16.3) and 24 other tissues See more
Orthologs
Location:
1p21.2
Exon count:
10
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (99969367..100026979)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (100435345..100492535)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L39 pseudogene 9 Neighboring gene amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase Neighboring gene RNA, U6 small nuclear 750, pseudogene Neighboring gene RNA, U6 small nuclear 1318, pseudogene Neighboring gene major facilitator superfamily domain containing 14A Neighboring gene SAS-6 centriolar assembly protein Neighboring gene tRNA methyltransferase 13 homolog Neighboring gene leucine rich repeat containing 39

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env Mannose-containing, N-linked oligosaccharide side-chains of HIV-1 gp41 are involved in the initial stage of infection by HIV-1; glycosylation inhibitors block virus-cell and cell-cell fusion and release of the virions PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • DKFZp781P1297

Gene Ontology Provided by GOA

Function Evidence Code Pubs
UDP-N-acetylglucosamine transmembrane transporter activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sugar:proton symporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
UDP-N-acetylglucosamine metabolic process TAS
Traceable Author Statement
more info
PubMed 
UDP-N-acetylglucosamine transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
carbohydrate transport IEA
Inferred from Electronic Annotation
more info
 
proton transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus TAS
Traceable Author Statement
more info
PubMed 
Golgi membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
UDP-N-acetylglucosamine transporter
Names
golgi UDP-GlcNAc transporter
solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3
solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3

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.

Genomic

  1. NG_033857.1 RefSeqGene

    Range
    5001..62191
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001271684.1NP_001258613.1  UDP-N-acetylglucosamine transporter isoform 2

    See identical proteins and their annotated locations for NP_001258613.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two exons in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC118553, AV698459, BC005136, CR749816
    Consensus CDS
    CCDS60205.1
    UniProtKB/Swiss-Prot
    Q9Y2D2
    Related
    ENSP00000491145.1, OTTHUMP00000012507, ENST00000638336.1, OTTHUMT00000029784
    Conserved Domains (1) summary
    pfam04142
    Location:4220
    Nuc_sug_transp; Nucleotide-sugar transporter
  2. NM_001271685.1NP_001258614.1  UDP-N-acetylglucosamine transporter isoform 3

    See identical proteins and their annotated locations for NP_001258614.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate 5' exon structure, which introduces an upstream start codon, compared to variant 1. It encodes isoform 3, which has a longer N-terminus, compared to isoform 1.
    Source sequence(s)
    AC118553, CR749816
    Consensus CDS
    CCDS60204.1
    UniProtKB/Swiss-Prot
    Q9Y2D2
    Related
    ENSP00000359172.1, OTTHUMP00000231651, ENST00000370153.6, OTTHUMT00000387343
    Conserved Domains (2) summary
    TIGR00803
    Location:128354
    nst; UDP-galactose transporter
    pfam04142
    Location:46355
    Nuc_sug_transp; Nucleotide-sugar transporter
  3. NM_012243.2NP_036375.1  UDP-N-acetylglucosamine transporter isoform 1

    See identical proteins and their annotated locations for NP_036375.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.
    Source sequence(s)
    AB021981, AC118553, AV698459, CR749816
    Consensus CDS
    CCDS762.1
    UniProtKB/Swiss-Prot
    Q9Y2D2
    Related
    ENSP00000433849.1, OTTHUMP00000012506, ENST00000533028.7, OTTHUMT00000029783
    Conserved Domains (2) summary
    TIGR00803
    Location:86312
    nst; UDP-galactose transporter
    pfam04142
    Location:4313
    Nuc_sug_transp; Nucleotide-sugar transporter

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

    Range
    99969367..100026979
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005270691.4XP_005270748.1  UDP-N-acetylglucosamine transporter isoform X2

    See identical proteins and their annotated locations for XP_005270748.1

    UniProtKB/Swiss-Prot
    Q9Y2D2
    Related
    ENSP00000414947.2, OTTHUMP00000012508, ENST00000427993.7, OTTHUMT00000029786
    Conserved Domains (2) summary
    TIGR00803
    Location:86312
    nst; UDP-galactose transporter
    pfam04142
    Location:4313
    Nuc_sug_transp; Nucleotide-sugar transporter
  2. XM_017000869.1XP_016856358.1  UDP-N-acetylglucosamine transporter isoform X4

    UniProtKB/TrEMBL
    A0A1W2PRT7
    Related
    ENSP00000492771.1, ENST00000640732.1
  3. XM_017000872.1XP_016856361.1  UDP-N-acetylglucosamine transporter isoform X8

    Conserved Domains (1) summary
    cl23754
    Location:1182
    EamA; EamA-like transporter family
  4. XM_017000870.1XP_016856359.1  UDP-N-acetylglucosamine transporter isoform X5

    UniProtKB/TrEMBL
    A0A1W2PSD1
    Related
    ENSP00000492801.1, ENST00000640715.1
  5. XM_017000871.1XP_016856360.1  UDP-N-acetylglucosamine transporter isoform X7

    UniProtKB/TrEMBL
    A0A1W2PQL8
    Related
    ENSP00000492169.1, ENST00000639221.1
  6. XM_011541138.2XP_011539440.1  UDP-N-acetylglucosamine transporter isoform X6

    Conserved Domains (1) summary
    cl23754
    Location:128258
    EamA; EamA-like transporter family
  7. XM_011541135.2XP_011539437.1  UDP-N-acetylglucosamine transporter isoform X1

    Conserved Domains (2) summary
    TIGR00803
    Location:128313
    nst; UDP-galactose transporter
    pfam04142
    Location:46314
    Nuc_sug_transp; Nucleotide-sugar transporter
  8. XM_011541137.2XP_011539439.1  UDP-N-acetylglucosamine transporter isoform X3

    Conserved Domains (1) summary
    TIGR00803
    Location:128293
    nst; UDP-galactose transporter
  9. XM_011541136.2XP_011539438.1  UDP-N-acetylglucosamine transporter isoform X2

    See identical proteins and their annotated locations for XP_011539438.1

    UniProtKB/Swiss-Prot
    Q9Y2D2
    Conserved Domains (2) summary
    TIGR00803
    Location:86312
    nst; UDP-galactose transporter
    pfam04142
    Location:4313
    Nuc_sug_transp; Nucleotide-sugar transporter

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    100551698..100608854
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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