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

Gene ID: 8034, updated on 5-Mar-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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Location:
10q21.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (68477998..68527523, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (69347236..69396739, complement)
105.20220307 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. 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
  2. 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
  3. 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
  4. 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
  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 (20) 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)

Genotypes

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 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_2023_10

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

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