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

    Gene ID: 55032, updated on 28-Oct-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
    mouse all
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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 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)

    Genotypes

    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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