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

Gene ID: 10559, updated on 13-Mar-2020

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
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

Genomic context

See SLC35A1 in Genome Data Viewer
Location:
6q15
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (87472925..87512339)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (88182637..88222057)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene cilia and flagella associated protein 206 Neighboring gene adenosylmethionine decarboxylase 1 pseudogene Neighboring gene ST13, Hsp70 interacting protein pseudogene 16 Neighboring gene RNA, U6 small nuclear 444, pseudogene Neighboring gene arginyl-tRNA synthetase 2, mitochondrial Neighboring gene origin recognition complex subunit 3 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

Homology

Clone Names

  • FLJ76955

Gene Ontology Provided by GOA

Function Evidence Code Pubs
CMP-N-acetylneuraminate transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
CMP-N-acetylneuraminate transmembrane transporter activity TAS
Traceable Author Statement
more info
 
UDP-galactose transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
antiporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
CMP-N-acetylneuraminate transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
UDP-galactose transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
carbohydrate metabolic process TAS
Traceable Author Statement
more info
PubMed 
carbohydrate transport IEA
Inferred from Electronic Annotation
more info
 
cellular protein modification process TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi membrane TAS
Traceable Author Statement
more info
 
integral component of Golgi membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of 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)

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_001168398.1NP_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
    Related
    ENSP00000358565.4, ENST00000369552.9
    Conserved Domains (1) summary
    pfam04142
    Location:8314
    Nuc_sug_transp; Nucleotide-sugar transporter

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    87472925..87512339
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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