U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    SLC35A1 solute carrier family 35 member A1 [ Homo sapiens (human) ]

    Gene ID: 10559, updated on 23-Nov-2023

    Summary

    Official Symbol
    SLC35A1provided by HGNC
    Official Full Name
    solute carrier family 35 member A1provided by HGNC
    Primary source
    HGNC:HGNC:11021
    See related
    Ensembl:ENSG00000164414 MIM:605634; AllianceGenome:HGNC:11021
    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
    CST; hCST; CDG2F; CMPST
    Summary
    The protein encoded by this gene is found in the membrane of the Golgi apparatus, where it transports nucleotide sugars into the Golgi. One such nucleotide sugar is CMP-sialic acid, which is imported into the Golgi by the encoded protein and subsequently glycosylated. Defects in this gene are a cause of congenital disorder of glycosylation type 2F (CDG2F). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]
    Expression
    Ubiquitous expression in colon (RPKM 23.8), lung (RPKM 21.7) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC35A1 in Genome Data Viewer
    Location:
    6q15
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (87472974..87512336)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (88681733..88721067)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (88182692..88222054)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene cilia and flagella associated protein 206 Neighboring gene ST13, Hsp70 interacting protein pseudogene 16 Neighboring gene uncharacterized LOC124901357 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:88182339-88183245 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24795 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24796 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:88193750-88194949 Neighboring gene RNA, U6 small nuclear 444, pseudogene Neighboring gene arginyl-tRNA synthetase 2, mitochondrial Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24797 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:88298835-88299796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:88301170-88301670 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:88301671-88302171 Neighboring gene NANOG hESC enhancer GRCh37_chr6:88313800-88314301 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:88323459-88323960 Neighboring gene origin recognition complex subunit 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:88349062-88349578 Neighboring gene MPRA-validated peak5943 silencer Neighboring gene akirin 2

    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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ76955

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables CMP-N-acetylneuraminate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables CMP-N-acetylneuraminate transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables CMP-N-acetylneuraminate transmembrane transporter activity TAS
    Traceable Author Statement
    more info
     
    enables antiporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in CMP-N-acetylneuraminate transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in CMP-N-acetylneuraminate transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in CMP-N-acetylneuraminate transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in carbohydrate metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in carbohydrate transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein modification process TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
     
    located_in membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    CMP-sialic acid transporter
    Names
    CMP-SA-Tr
    CMP-Sia-Tr
    mutated CMP-sialic acid transporter A1
    solute carrier family 35 (CMP-sialic acid transporter), member 1
    solute carrier family 35 (CMP-sialic acid transporter), member A1
    solute carrier family 35 (UDP-galactose transporter), member 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_016207.1 RefSeqGene

      Range
      5050..44412
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001168398.2NP_001161870.1  CMP-sialic acid transporter isoform b

      See identical proteins and their annotated locations for NP_001161870.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AJ851888, CB242593, D87969, DA210713
      Consensus CDS
      CCDS55043.1
      UniProtKB/Swiss-Prot
      P78382
      Related
      ENSP00000358569.3, ENST00000369556.7
      Conserved Domains (1) summary
      pfam04142
      Location:8255
      Nuc_sug_transp; Nucleotide-sugar transporter
    2. NM_006416.5NP_006407.1  CMP-sialic acid transporter isoform a

      See identical proteins and their annotated locations for NP_006407.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      BC017807, BG699364, CB242593, DB095595
      Consensus CDS
      CCDS5010.1
      UniProtKB/Swiss-Prot
      P78382, Q5W1L8
      Related
      ENSP00000358565.4, ENST00000369552.9
      Conserved Domains (1) summary
      pfam04142
      Location:8314
      Nuc_sug_transp; Nucleotide-sugar transporter

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      87472974..87512336
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      88681733..88721067
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)