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    SLC25A36 solute carrier family 25 member 36 [ Homo sapiens (human) ]

    Gene ID: 55186, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SLC25A36provided by HGNC
    Official Full Name
    solute carrier family 25 member 36provided by HGNC
    Primary source
    HGNC:HGNC:25554
    See related
    Ensembl:ENSG00000114120 MIM:616149; AllianceGenome:HGNC:25554
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HHF8; PNC2
    Summary
    Enables pyrimidine nucleotide transmembrane transporter activity. Involved in mitochondrial genome maintenance; pyrimidine nucleotide transport; and regulation of mitochondrial membrane potential. Located in mitochondrion. Implicated in familial hyperinsulinemic hypoglycemia 8. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 19.4), endometrium (RPKM 15.5) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC25A36 in Genome Data Viewer
    Location:
    3q23
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (140941836..140980995)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (143689289..143728462)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (140660678..140699837)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:140401669-140402169 Neighboring gene tripartite motif containing 42 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20619 Neighboring gene ribosomal protein L23a pseudogene 41 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20620 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:140661115-140661962 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14772 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:140789226-140789769 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:140789770-140790312 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:140792837-140793422 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:140802197-140802706 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:140805486-140806259 Neighboring gene NANOG hESC enhancer GRCh37_chr3:140821789-140822305 Neighboring gene splA/ryanodine receptor domain and SOCS box containing 4 Neighboring gene NANOG hESC enhancer GRCh37_chr3:140923620-140924130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:140925635-140926136 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14773 Neighboring gene 2-phosphoxylose phosphatase 1 Neighboring gene ribosomal protein L31 pseudogene 21

    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. Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation. Safran A, et al. J Inherit Metab Dis, 2023 Jul. PMID 36695547
    2. Identification of the mitochondrial pyruvate carrier in Saccharomyces cerevisiae. Hildyard JC, et al. Biochem J, 2003 Sep 15. PMID 12887330, Free PMC Article
    3. The human SLC25A33 and SLC25A36 genes of solute carrier family 25 encode two mitochondrial pyrimidine nucleotide transporters. Di Noia MA, et al. J Biol Chem, 2014 Nov 28. PMID 25320081, Free PMC Article
    4. Pilot genome-wide association search identifies potential loci for risk of erectile dysfunction in type 1 diabetes using the DCCT/EDIC study cohort. Hotaling JM, et al. J Urol, 2012 Aug. PMID 22704111, Free PMC Article
    5. Replication of top markers of a genome-wide association study in multiple sclerosis in Spain. Cavanillas ML, et al. Genes Immun, 2011 Mar. PMID 20944657

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation.
      Title: Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation.
    2. The main physiological role of SLC25A33 and SLC25A36 is to import/export pyrimidine nucleotides into and from mitochondria
      Title: The human SLC25A33 and SLC25A36 genes of solute carrier family 25 encode two mitochondrial pyrimidine nucleotide transporters.
    3. Compares and contrasts all the known human SLC25A* genes and includes functional information.
      Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Replication of top markers of a genome-wide association study in multiple sclerosis in Spain.
    Submit: New GeneRIF Correction

    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

    Associated conditions

    Description Tests
    Hyperinsulinemic hypoglycemia, familial, 8
    MedGen: C5774299 OMIM: 620211 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
    EBI GWAS Catalog
    Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.
    EBI GWAS Catalog
    Pilot genome-wide association search identifies potential loci for risk of erectile dysfunction in type 1 diabetes using the DCCT/EDIC study cohort.
    EBI GWAS Catalog

    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

    • FLJ10618, DKFZp564C053

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables pyrimidine nucleotide transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables pyrimidine nucleotide transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial genome maintenance IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial genome maintenance IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitochondrion organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in pyrimidine nucleotide import into mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in pyrimidine nucleotide transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of mitochondrial membrane potential IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    solute carrier family 25 member 36
    Names
    epididymis secretory sperm binding protein
    solute carrier family 25 (pyrimidine nucleotide carrier ), member 36

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001104647.3 → NP_001098117.1  solute carrier family 25 member 36 isoform a

      See identical proteins and their annotated locations for NP_001098117.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC108727, AC132032
      Consensus CDS
      CCDS46927.1
      UniProtKB/Swiss-Prot
      A8MYF7, Q05CY1, Q96CQ1, Q9H0G8, Q9NVN5
      UniProtKB/TrEMBL
      A0A384MEA9, J3KQA4
      Related
      ENSP00000320688.6, ENST00000324194.12
      Conserved Domains (1) summary
      pfam00153
      Location:6 → 111
      Mito_carr; Mitochondrial carrier protein

    2. NM_018155.3 → NP_060625.2  solute carrier family 25 member 36 isoform b

      See identical proteins and their annotated locations for NP_060625.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.
      Source sequence(s)
      AC108727, AC132032
      Consensus CDS
      CCDS3114.1
      UniProtKB/TrEMBL
      J3KQA4
      Related
      ENSP00000401938.2, ENST00000446041.6
      Conserved Domains (2) summary
      PTZ00169
      Location:5 → 289
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:2 → 113
      Mito_carr; Mitochondrial carrier protein

    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
      140941836..140980995
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448440.1 → XP_047304396.1  solute carrier family 25 member 36 isoform X1

    2. XM_005247575.6 → XP_005247632.2  solute carrier family 25 member 36 isoform X2

    RNA

    1. XR_007095699.1 RNA Sequence

    2. XR_007095700.1 RNA Sequence

    3. XR_007095701.1 RNA Sequence

    4. XR_007095702.1 RNA Sequence

    5. XR_007095704.1 RNA Sequence

    6. XR_007095703.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      143689289..143728462
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347072.1 → XP_054203047.1  solute carrier family 25 member 36 isoform X1

    2. XM_054347073.1 → XP_054203048.1  solute carrier family 25 member 36 isoform X2

    RNA

    1. XR_008486740.1 RNA Sequence

    2. XR_008486741.1 RNA Sequence

    3. XR_008486742.1 RNA Sequence

    4. XR_008486743.1 RNA Sequence

    5. XR_008486745.1 RNA Sequence

    6. XR_008486744.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96CQ1.1 GenPept UniProtKB/Swiss-Prot:Q96CQ1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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