Human Gene SLC25A16 (uc001joi.3) Description and Page Index
  Description: Homo sapiens solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16 (SLC25A16), nuclear gene encoding mitochondrial protein, mRNA.
RefSeq Summary (NM_152707): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Transcript (Including UTRs)
   Position: hg19 chr10:70,242,090-70,287,280 Size: 45,191 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr10:70,243,189-70,287,132 Size: 43,944 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:70,242,090-70,287,280)mRNA (may differ from genome)Protein (332 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeTreefamUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: GDC_HUMAN
DESCRIPTION: RecName: Full=Graves disease carrier protein; Short=GDC; AltName: Full=Graves disease autoantigen; Short=GDA; AltName: Full=Mitochondrial solute carrier protein homolog; AltName: Full=Solute carrier family 25 member 16;
FUNCTION: Required for the accumulation of coenzyme A in the mitochondrial matrix.
SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein.
SIMILARITY: Belongs to the mitochondrial carrier family.
SIMILARITY: Contains 3 Solcar repeats.
SEQUENCE CAUTION: Sequence=AAA36329.1; Type=Frameshift; Positions=320;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SLC25A16
CDC HuGE Published Literature: SLC25A16

-  MalaCards Disease Associations
  MalaCards Gene Search: SLC25A16
Diseases sorted by gene-association score: graves' disease (72), lemierre's syndrome (11), subclavian artery aneurysm (9), vertebral artery occlusion (9), basilar artery occlusion (9), cerebral arterial disease (8), hemometra (8), sphenoid sinusitis (7), cranial nerve palsy (7), subacute bacterial endocarditis (6), skull base meningioma (6), skull base neoplasm (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 5.23 RPKM in Liver
Total median expression: 136.33 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -62.50148-0.422 Picture PostScript Text
3' UTR -260.061099-0.237 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002167 - Graves_DC
IPR002067 - Mit_carrier
IPR018108 - Mitochondrial_sb/sol_carrier
IPR023395 - Mt_carrier_dom

Pfam Domains:
PF00153 - Mitochondrial carrier protein

SCOP Domains:
103506 - Mitochondrial carrier

ModBase Predicted Comparative 3D Structure on P16260
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologGenome Browser
Gene DetailsGene Details   Gene Details
Gene SorterGene Sorter   Gene Sorter
 RGDEnsembl  SGD
 Protein SequenceProtein Sequence  Protein Sequence
 AlignmentAlignment  Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0015291 secondary active transmembrane transporter activity
GO:0015297 antiporter activity
GO:0022857 transmembrane transporter activity

Biological Process:
GO:0006839 mitochondrial transport
GO:0009108 coenzyme biosynthetic process
GO:0055085 transmembrane transport

Cellular Component:
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  BC030266 - Homo sapiens solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16, mRNA (cDNA clone MGC:39851 IMAGE:5241247), complete cds.
M31659 - Human GT mitochondrial solute carrier protein homologue mRNA, complete cds.
AK298510 - Homo sapiens cDNA FLJ60777 complete cds, highly similar to Grave disease carrier protein.
AK123772 - Homo sapiens cDNA FLJ41778 fis, clone IMR322015523, highly similar to GRAVE'S DISEASE CARRIER PROTEIN.
AK290255 - Homo sapiens cDNA FLJ76073 complete cds, highly similar to Homo sapiens solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16 (SLC25A16), mRNA.
AK295287 - Homo sapiens cDNA FLJ59258 complete cds, highly similar to Grave disease carrier protein.
DQ891710 - Synthetic construct clone IMAGE:100004340; FLH179316.01X; RZPDo839F02130D solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16 (SLC25A16) gene, encodes complete protein.
KJ904593 - Synthetic construct Homo sapiens clone ccsbBroadEn_13987 SLC25A16 gene, encodes complete protein.
DQ894887 - Synthetic construct Homo sapiens clone IMAGE:100009347; FLH179312.01L; RZPDo839F02129D solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16 (SLC25A16) gene, encodes complete protein.
JD400409 - Sequence 381433 from Patent EP1572962.
JD393041 - Sequence 374065 from Patent EP1572962.
JD495785 - Sequence 476809 from Patent EP1572962.
JD325756 - Sequence 306780 from Patent EP1572962.
JD277937 - Sequence 258961 from Patent EP1572962.
JD470244 - Sequence 451268 from Patent EP1572962.
JD136378 - Sequence 117402 from Patent EP1572962.
CU688872 - Synthetic construct Homo sapiens gateway clone IMAGE:100016721 5' read SLC25A16 mRNA.
BC001407 - Homo sapiens solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16, mRNA (cDNA clone IMAGE:3139311), with apparent retained intron.
KJ904594 - Synthetic construct Homo sapiens clone ccsbBroadEn_13988 SLC25A16 gene, encodes complete protein.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P16260 (Reactome details) participates in the following event(s):

R-HSA-199216 SLC25A16 transports cytosolic CoA-SH to mitichondrial matrix
R-HSA-196783 Coenzyme A biosynthesis
R-HSA-199220 Vitamin B5 (pantothenate) metabolism
R-HSA-196849 Metabolism of water-soluble vitamins and cofactors
R-HSA-196854 Metabolism of vitamins and cofactors
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: GDA, GDC_HUMAN, NM_152707, NP_689920, P16260, Q8N2U1
UCSC ID: uc001joi.3
RefSeq Accession: NM_152707
Protein: P16260 (aka GDC_HUMAN)
CCDS: CCDS7280.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_152707.3
exon count: 9CDS single in 3' UTR: no RNA size: 2264
ORF size: 999CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1875.00frame shift in genome: no % Coverage: 99.20
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.