• Gene id: 123096

Gene Summary

• Gene Symbol: SLC25A29   Gene   UCSC   Ensembl
• Aliases: C14orf69, CACL, ORNT3
• Gene name: solute carrier family 25 member 29
• Alternate names: mitochondrial basic amino acids transporter, carnitine-acylcarnitine translocase like, mitochondrial carnitine/acylcarnitine carrier protein CACL, mitochondrial ornithine transporter 3, solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier),,
• Gene location: 14q32.2 (100306535: 100277985)     Exons: 10     NC_000014.9
• Gene summary(Entrez): This gene encodes a nuclear-encoded mitochondrial protein that is a member of the large family of solute carrier family 25 (SLC25) mitochondrial transporters. The members of this superfamily are involved in numerous metabolic pathways and cell functions.
• OMIM: 132890

Protein Summary

• Protein general information: Q8N8R3  
  • Name: Mitochondrial basic amino acids transporter (Carnitine/acylcarnitine translocase like) (CACT like) (Mitochondrial carnitine/acylcarnitine carrier protein CACL) (Mitochondrial ornithine transporter 3) (Solute carrier family 25 member 29)
  • Length: 303  
  • Mass: 32062
• Sequence:

  MALDFLAGCAGGVAGVLVGHPFDTVKVRLQVQSVEKPQYRGTLHCFKSIIKQESVLGLYKGLGSPLMGLTFINAL
  VFGVQGNTLRALGHDSPLNQFLAGAAAGAIQCVICCPMELAKTRLQLQDAGPARTYKGSLDCLAQIYGHEGLRGV
  NRGMVSTLLRETPSFGVYFLTYDALTRALGCEPGDRLLVPKLLLAGGTSGIVSWLSTYPVDVVKSRLQADGLRGA
  PRYRGILDCVHQSYRAEGWRVFTRGLASTLLRAFPVNAATFATVTVVLTYARGEEAGPEGEAVPAAPAGPALAQP
  SSL

• Structural information:
  • Interpro: IPR002067  IPR018108  IPR023395  
  • Prosite: PS50920
  • STRING: ENSP00000352167
• Other Databases: GeneCards:  SLC25A29  Malacards:  SLC25A29

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006844	acyl carnitine transport	IBA	biological process
GO:0006865	amino acid transport	IBA	biological process
GO:1902616	acyl carnitine transmembrane transport	IDA	NOT|biological process
GO:0015227	acyl carnitine transmembrane transporter activity	IDA	NOT|molecular function
GO:0089709	L-histidine transmembrane transport	IDA	biological process
GO:0015822	ornithine transport	IDA	biological process
GO:1903400	L-arginine transmembrane transport	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0005292	high-affinity lysine transmembrane transporter activity	IDA	molecular function
GO:0005289	high-affinity arginine transmembrane transporter activity	IDA	molecular function
GO:0015879	carnitine transport	IDA	NOT|biological process
GO:1903401	L-lysine transmembrane transport	IDA	biological process
GO:1990575	mitochondrial L-ornithine transmembrane transport	IMP	biological process
GO:0015174	basic amino acid transmembrane transporter activity	IMP	molecular function
GO:0005347	ATP transmembrane transporter activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0006865	amino acid transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0015174	basic amino acid transmembrane transporter activity	TAS	molecular function
GO:0006865	amino acid transport	TAS	biological process
GO:1990575	mitochondrial L-ornithine transmembrane transport	IEA	biological process
GO:0006844	acyl carnitine transport	IEA	biological process
GO:0015174	basic amino acid transmembrane transporter activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:1902616	acyl carnitine transmembrane transport	IEA	biological process
GO:0015867	ATP transport	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04714	Thermogenesis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq