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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
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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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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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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 Variation Viewer (GRCh37.p13)

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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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.

Chemical Information
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