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SLC35A5 solute carrier family 35 member A5 [ Homo sapiens (human) ]

Gene ID: 55032, updated on 27-Nov-2024

Summary

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Official Symbol
SLC35A5provided by HGNC
Official Full Name
solute carrier family 35 member A5provided by HGNC
Primary source
HGNC:HGNC:20792
See related
Ensembl:ENSG00000138459 MIM:620298; AllianceGenome:HGNC:20792
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
Summary
This gene encodes a transmembrane protein which belongs to subfamily 35A of the solute carrier superfamily. The encoded protein is a nucleoside-sugar transporter. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
Expression
Ubiquitous expression in thyroid (RPKM 18.1), brain (RPKM 17.1) and 25 other tissues See more
Orthologs
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Genomic context

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See SLC35A5 in Genome Data Viewer
Location:
3q13.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (112561320..112585579)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (115282355..115306614)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (112280167..112304426)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene NANOG hESC enhancer GRCh37_chr3:112184939-112185454 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:112192511-112193011 Neighboring gene B and T lymphocyte associated Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14604 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20241 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20242 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20243 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:112240775-112241275 Neighboring gene olfactory receptor family 7 subfamily E member 100 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20245 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20244 Neighboring gene autophagy related 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:112279571-112280380 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:112280381-112281190 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:112282811-112283620 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:112283621-112284430 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_64338 Neighboring gene coiled-coil domain containing 80 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:112383725-112384298 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:112405169-112405758 Neighboring gene MAT2A pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. SLC35A5 Protein-A Golgi Complex Member with Putative Nucleotide Sugar Transport Activity. Sosicka P, et al. Int J Mol Sci, 2019 Jan 11. PMID 30641943, Free PMC Article
  2. Structure and function of nucleotide sugar transporters: Current progress. Hadley B, et al. Comput Struct Biotechnol J, 2014 Jun. PMID 25210595, Free PMC Article
  3. The solute carrier families have a remarkably long evolutionary history with the majority of the human families present before divergence of Bilaterian species. Höglund PJ, et al. Mol Biol Evol, 2011 Apr. PMID 21186191, Free PMC Article
  4. Analysis and update of the human solute carrier (SLC) gene superfamily. He L, et al. Hum Genomics, 2009 Jan. PMID 19164095, Free PMC Article
  5. Molecular physiology and pathology of the nucleotide sugar transporter family (SLC35). Ishida N, et al. Pflugers Arch, 2004 Feb. PMID 12759756

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ11130, FLJ20730, FLJ25973, DKFZp434E102

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables antiporter activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables pyrimidine nucleotide-sugar transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in pyrimidine nucleotide-sugar transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in Golgi membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in Golgi membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
UDP-sugar transporter protein SLC35A5
Names
probable UDP-sugar transporter protein SLC35A5

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.

Genomic

  1. NG_052994.2 RefSeqGene

    Range
    5727..29261
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001348905.2 → NP_001335834.1  UDP-sugar transporter protein SLC35A5 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR compared to variant 1. Variants 1-4 encode the same isoform (1).
    Source sequence(s)
    AC048334, AC092692
    Consensus CDS
    CCDS2967.1
    UniProtKB/Swiss-Prot
    D3DN66, Q69YY6, Q6ZMD6, Q9BS91, Q9NWM9
    Conserved Domains (1) summary
    pfam04142
    Location:24 → 374
    Nuc_sug_transp; Nucleotide-sugar transporter

  2. NM_001348906.2 → NP_001335835.1  UDP-sugar transporter protein SLC35A5 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate exon in the 5' UTR compared to variant 1. Variants 1-4 encode the same isoform (1).
    Source sequence(s)
    AC048334, AC092692
    Consensus CDS
    CCDS2967.1
    UniProtKB/Swiss-Prot
    D3DN66, Q69YY6, Q6ZMD6, Q9BS91, Q9NWM9
    Conserved Domains (1) summary
    pfam04142
    Location:24 → 374
    Nuc_sug_transp; Nucleotide-sugar transporter

  3. NM_001348907.2 → NP_001335836.1  UDP-sugar transporter protein SLC35A5 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1-4 encode the same isoform (1).
    Source sequence(s)
    AC048334, AC092692
    Consensus CDS
    CCDS2967.1
    UniProtKB/Swiss-Prot
    D3DN66, Q69YY6, Q6ZMD6, Q9BS91, Q9NWM9
    Conserved Domains (1) summary
    pfam04142
    Location:24 → 374
    Nuc_sug_transp; Nucleotide-sugar transporter

  4. NM_001348908.2 → NP_001335837.1  UDP-sugar transporter protein SLC35A5 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks two alternate exons in the 5' coding region compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC048334, AC092692
    Conserved Domains (1) summary
    pfam04142
    Location:13 → 256
    Nuc_sug_transp; Nucleotide-sugar transporter

  5. NM_001348909.2 → NP_001335838.1  UDP-sugar transporter protein SLC35A5 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (3) has shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC048334, AC092692
    Conserved Domains (1) summary
    pfam04142
    Location:10 → 253
    Nuc_sug_transp; Nucleotide-sugar transporter

  6. NM_001348910.2 → NP_001335839.1  UDP-sugar transporter protein SLC35A5 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) has an alternate exon structure in the 3' coding region region leading to a frameshift and differs in the 3' UTR, compared to variant 1. The encoded isoform (4) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC048334, AC092692
    Consensus CDS
    CCDS87121.1
    UniProtKB/TrEMBL
    H7BXF8
    Related
    ENSP00000261034.2, ENST00000261034.6
    Conserved Domains (1) summary
    pfam04142
    Location:24 → 162
    Nuc_sug_transp; Nucleotide-sugar transporter

  7. NM_001348911.2 → NP_001335840.1  UDP-sugar transporter protein SLC35A5 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) uses an alternate splice site in the 3' coding region region leading to a frameshift and differs in the 3' UTR compared to variant 1. The encoded isoform (5) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC048334, AC092692
    Conserved Domains (1) summary
    pfam04142
    Location:24 → 162
    Nuc_sug_transp; Nucleotide-sugar transporter

  8. NM_017945.5 → NP_060415.1  UDP-sugar transporter protein SLC35A5 isoform 1

    See identical proteins and their annotated locations for NP_060415.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1-4 encode the same isoform (1).
    Source sequence(s)
    AC048334, AC092692
    Consensus CDS
    CCDS2967.1
    UniProtKB/Swiss-Prot
    D3DN66, Q69YY6, Q6ZMD6, Q9BS91, Q9NWM9
    Related
    ENSP00000417654.1, ENST00000492406.6
    Conserved Domains (1) summary
    pfam04142
    Location:24 → 374
    Nuc_sug_transp; Nucleotide-sugar transporter

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    112561320..112585579
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    115282355..115306614
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BS91.2 GenPept UniProtKB/Swiss-Prot:Q9BS91

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