SLC25A47 (solute carrier family 25 member 47)

Gene

• Entrez ID: 283600
• Gene name: Solute carrier family 25 member 47
• Gene symbol: SLC25A47
• Synonyms (NCBI Gene): C14orf68, HDCMP, HDMCP, HMFN1655
• Chromosome: 14
• Chromosome location: 14q32.2
• Summary: This gene encodes a member of a large family of mitochondrial transporters. The nuclear-encoded carrier protein is embedded in the inner mitochondrial membrane. This member of the family is thought to be an uncoupling protein that uncouples mitochondrial

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1357350	hsa-miR-1228	CLIP-seq
MIRT1357351	hsa-miR-329	CLIP-seq
MIRT1357352	hsa-miR-345	CLIP-seq
MIRT1357353	hsa-miR-3622a-3p	CLIP-seq
MIRT1357354	hsa-miR-3622b-3p	CLIP-seq
MIRT1357355	hsa-miR-362-3p	CLIP-seq
MIRT1357356	hsa-miR-4254	CLIP-seq
MIRT1357357	hsa-miR-4292	CLIP-seq
MIRT1357358	hsa-miR-4308	CLIP-seq
MIRT2624377	hsa-miR-138	CLIP-seq
MIRT2624378	hsa-miR-338-3p	CLIP-seq
MIRT2624379	hsa-miR-4456	CLIP-seq
MIRT2624380	hsa-miR-4530	CLIP-seq
MIRT2624381	hsa-miR-541	CLIP-seq
MIRT2624382	hsa-miR-646	CLIP-seq
MIRT2624383	hsa-miR-654-5p	CLIP-seq
MIRT2624384	hsa-miR-766	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005741	Component	Mitochondrial outer membrane	ISS
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	ISS
GO:0008521	Function	Acetyl-CoA transmembrane transporter activity	IEA
GO:0008521	Function	Acetyl-CoA transmembrane transporter activity	ISS
GO:0015876	Process	Acetyl-CoA transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0022857	Function	Transmembrane transporter activity	IBA
GO:0035352	Process	NAD transmembrane transport	IEA
GO:0051724	Function	NAD transmembrane transporter activity	IEA
GO:0051724	Function	NAD transmembrane transporter activity	ISS
GO:0055085	Process	Transmembrane transport	IEA

Other IDs

• MIM: 609911
• HGNC: 20115
• e!Ensembl: ENSG00000140107

Protein

• UniProt ID: Q6Q0C1
• Protein name: Solute carrier family 25 member 47 (Hepatocellular carcinoma down-regulated mitochondrial carrier protein) (Mitochondrial NAD(+) transporter SLC25A47)
• Protein function: Mitochondrial NAD(+) transporter that acts as a 'metabolic gate' in hepatic lipogenesis. Provides NAD(+) substrate to mitochondrial SIRT3 deacetylase and enables its NAD(+)-dependent activities in mitochondrial energy metabolism. This triggers d
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00153	Mito_carr	1 → 83	Mitochondrial carrier protein	Family
  PF00153	Mito_carr	94 → 210	Mitochondrial carrier protein	Family
  PF00153	Mito_carr	214 → 305	Mitochondrial carrier protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Specifically expressed in liver. {ECO:0000269|PubMed:15322095, ECO:0000269|PubMed:36804859}.
• Sequence:

  MDFVAGAIGGVCGVAVGYPLDTVKVRIQTEPKYTGIWHCVRDTYHRERVWGFYRGLSLPV
  CTVSLVSSVSFGTYRHCLAHICRLRYGNPDAKPTKADITLSGCASGLVRVFLTSPTEVAK
  VRLQTQTQAQKQQRRLSASGPLAVPPMCPVPPACPEPKYRGPLHCLATVAREEGLCGLYK
  GSSALVLRDGHSFATYFLSYAVLCEWLSPAGHSRPDVPGVLVAGGCAGVLAWAVATPMDV
  IKSRLQADGQGQRRYRGLLHCMVTSVREEGPRVLFKGLVLNCCRAFPVNMVVFVAYEAVL
  RLARGLLT

• Sequence length: 308

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Fatty Liver	Fatty Liver	BEFREE	28346483		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	28346483		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	15322095		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	28346483		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28346483		★☆☆☆☆ Found in Text Mining only