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    SLC25A16 solute carrier family 25 member 16 [ Homo sapiens (human) ]

    Gene ID: 8034, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SLC25A16provided by HGNC
    Official Full Name
    solute carrier family 25 member 16provided by HGNC
    Primary source
    HGNC:HGNC:10986
    See related
    Ensembl:ENSG00000122912 MIM:139080; AllianceGenome:HGNC:10986
    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
    GDA; GDC; ML7; hGP; hML7; HGT.1; D10S105E
    Summary
    This gene encodes a protein that contains three tandemly repeated mitochondrial carrier protein domains. The encoded protein is localized in the inner membrane and facilitates the rapid transport and exchange of molecules between the cytosol and the mitochondrial matrix space. This gene has a possible role in Graves' disease. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in fat (RPKM 11.2), prostate (RPKM 5.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC25A16 in Genome Data Viewer
    Location:
    10q21.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (68477998..68527523, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (69347236..69396739, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (70237755..70287280, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16656 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_16661/16662 and experimental_16666/16667 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16674 Neighboring gene ribosomal protein L26 pseudogene 29 Neighboring gene DNA replication helicase/nuclease 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16683 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16686/16687 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16694 Neighboring gene RNA, 5S ribosomal pseudogene 319 Neighboring gene MPRA-validated peak997 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:70255753-70256326 Neighboring gene ribosomal protein L26 pseudogene 27 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:70285872-70286556 Neighboring gene Sharpr-MPRA regulatory region 5966 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:70287929-70288614 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:70311125-70311694 Neighboring gene transmembrane protein 14D, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:70319811-70320333 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:70327554-70328054 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:70328055-70328555 Neighboring gene tet methylcytosine dioxygenase 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:70358633-70359198 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3467 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:70368833-70369512 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:70376644-70377144 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:70377145-70377645 Neighboring gene MPRA-validated peak999 silencer Neighboring gene COX20 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. Regional assignment of the gene coding for a human Graves' disease autoantigen to 10q21.3-q22.1. Rossi E, et al. Hum Genet, 1993 Feb. PMID 8444471
    2. A homozygous missense mutation in SLC25A16 associated with autosomal recessive isolated fingernail dysplasia in a Pakistani family. Khan S, et al. Br J Dermatol, 2018 Feb. PMID 28504827, Free PMC Article
    3. Sequence and pattern of expression of a bovine homologue of a human mitochondrial transport protein associated with Grave's disease. Fiermonte G, et al. DNA Seq, 1992. PMID 1457817
    4. Sequence and chromosomal assignment of a novel cDNA identified by immunoscreening of a thyroid expression library: similarity to a family of mitochondrial solute carrier proteins. Zarrilli R, et al. Mol Endocrinol, 1989 Sep. PMID 2575220
    5. The yeast mitochondrial carrier Leu5p and its human homologue Graves' disease protein are required for accumulation of coenzyme A in the matrix. Prohl C, et al. Mol Cell Biol, 2001 Feb. PMID 11158296, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The authors findings report an extreme rare missense mutation in SLC25A1 which supports the causality of this variant for autosomal recessive form of isolated fingernail dysplasia.
      Title: A homozygous missense mutation in SLC25A16 associated with autosomal recessive isolated fingernail dysplasia in a Pakistani family.
    2. Compares and contrasts all the known human SLC25A* genes and includes functional information.
      Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC39851

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables antiporter activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables coenzyme A transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables coenzyme A transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in mitochondrial coenzyme A transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in pantothenate metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    is_active_in mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    solute carrier family 25 member 16
    Names
    graves disease carrier protein
    graves' didease protein
    mitochondrial solute carrier protein homolog
    solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16

    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_046972.1 RefSeqGene

      Range
      5001..54526
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001324312.2 → NP_001311241.1  solute carrier family 25 member 16 isoform b

      Status: REVIEWED

      Source sequence(s)
      AK295287, AL136233, AL713888
      UniProtKB/TrEMBL
      B4DHV9

    2. NM_001324313.2 → NP_001311242.1  solute carrier family 25 member 16 isoform c

      Status: REVIEWED

      Source sequence(s)
      AL713888

    3. NM_001324314.2 → NP_001311243.1  solute carrier family 25 member 16 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) and variant 5 both encode the same isoform (d).
      Source sequence(s)
      AL136233, AL713888
      UniProtKB/TrEMBL
      B4DPV4
      Conserved Domains (1) summary
      pfam00153
      Location:33 → 116
      Mito_carr; Mitochondrial carrier protein

    4. NM_001324315.1 → NP_001311244.1  solute carrier family 25 member 16 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) and variant 4 both encode the same isoform (d).
      Source sequence(s)
      AL136233, AL713888
      UniProtKB/TrEMBL
      B4DPV4
      Conserved Domains (1) summary
      pfam00153
      Location:33 → 116
      Mito_carr; Mitochondrial carrier protein

    5. NM_001324317.2 → NP_001311246.1  solute carrier family 25 member 16 isoform e

      Status: REVIEWED

      Source sequence(s)
      AL136233, AL713888

    6. NM_152707.4 → NP_689920.1  solute carrier family 25 member 16 isoform a

      See identical proteins and their annotated locations for NP_689920.1

      Status: REVIEWED

      Source sequence(s)
      AK290255, AL136233, AL713888, BU684567, DA023888
      Consensus CDS
      CCDS7280.1
      UniProtKB/Swiss-Prot
      P16260, Q8N2U1
      Related
      ENSP00000476815.1, ENST00000609923.6
      Conserved Domains (2) summary
      PTZ00169
      Location:36 → 330
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:33 → 125
      Mito_carr; Mitochondrial carrier protein

    RNA

    1. NR_136737.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL136233, AL713888

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      68477998..68527523 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      69347236..69396739 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P16260.3 GenPept UniProtKB/Swiss-Prot:P16260

    Gene LinkOut

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