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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SLC25A29 Gene

protein-coding GIFtS: 45
GCID: GC14M100759

solute carrier family 25 (mitochondrial carnitine/acylcarnitine...

(Previous names: chromosome 14 open reading frame 69, solute carrier family...)
(Previous symbol: C14orf69)

Search for SLC25A29
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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Solute Carrier Family 25 (Mitochondrial Carnitine/Acylcarnitine Carrier), Member 29¹ ²		Carnitine-Acylcarnitine Translocase Like²
C14orf69¹ ² ³		Mitochondrial Carnitine/Acylcarnitine Carrier Protein CACL²
Solute Carrier Family 25, Member 29¹ ²		CACT-Like¹
ORNT3² ³		Carnitine/Acylcarnitine Translocase-Like³
FLJ38975¹		Mitochondrial Ornithine Transporter 3³
Chromosome 14 Open Reading Frame 69¹		Solute Carrier Family 25 Member 29³
CACL²

External Ids:	HGNC: 20116¹	Entrez Gene: 123096²	Ensembl: ENSG00000197119⁷	OMIM: 615064⁵	UniProtKB: Q8N8R3³

Export aliases for SLC25A29 gene to outside databases

Previous GC identifers: GC14M098749 GC14M098750 GC14M099827 GC14M080938

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: MCATL_HUMAN, Q8N8R3

Function: Has palmitoylcarnitine transporting activity (By similarity). Involved in ornithine transport

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000014.8 NC_018925.1 NT_026437.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SLC25A29 gene promoter:
Max1 E2F E2F-1 FOXD3 Pax-4a c-Myc
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for SLC25A29

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC25A29

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q32.2 Ensembl cytogenetic band: 14q32.2 HGNC cytogenetic band: 14q32.2

SLC25A29 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC25A29 gene location

GeneLoc information about chromosome 14 GeneLoc Exon Structure

GeneLoc location for GC14M100759: view genomic region (about GC identifiers)

Start:	100,757,448 bp from pter	End:	100,772,884 bp from pter
Size:	15,437 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MCATL_HUMAN, Q8N8R3 (See protein sequence)

Recommended Name: Mitochondrial carnitine/acylcarnitine carrier protein CACL

Size: 303 amino acids; 32062 Da

Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein

Sequence caution: Sequence=BAC04751.1; Type=Erroneous translation; Note=Wrong choice of frame; Sequence=CAD62317.1;

Type=Erroneous initiation; Note=Translation N-terminally shortened;

Secondary accessions: Q541V0

Alternative splicing: 2 isoforms: Q8N8R3-1 Q8N8R3-2 (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for SLC25A29: NX_Q8N8R3

SLC25A29 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001034444.1

ENSEMBL proteins:

ENSP00000352167 ENSP00000450913 ENSP00000376640 ENSP00000452446 ENSP00000452078

ENSP00000451573 ENSP00000451952 ENSP00000452324 ENSP00000451644 ENSP00000451808

ENSP00000442985

Human Recombinant Protein Products for SLC25A29:

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	Uscn Proteins for SLC25A29

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	--	--
GO:0005743	mitochondrial inner membrane	IEA	--
GO:0016021	integral to membrane	IEA	--

SLC25A29 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for SLC25A29

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SLC25A29 for domains About GeneDecksing

3 InterPro domains/families:

IPR002067 Mit_carrier

IPR023395 Mt_carrier_dom

IPR018108 Mitochondrial_sb/sol_carrier

Graphical View of Domain Structure for InterPro Entry Q8N8R3

ProtoNet protein and cluster: Q8N8R3

UniProtKB/Swiss-Prot: MCATL_HUMAN, Q8N8R3

Similarity: Belongs to the mitochondrial carrier (TC 2.A.29) family

Similarity: Contains 3 Solcar repeats

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: MCATL_HUMAN, Q8N8R3

Function: Has palmitoylcarnitine transporting activity (By similarity). Involved in ornithine transport

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0015227	acyl carnitine transmembrane transporter activity	IEA	--

SLC25A29 for ontologies About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SLC25A29

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		hsa-miR-3938 hsa-miR-122
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A29

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for SLC25A29

5/23 Interacting proteins for SLC25A29 (Q8N8R3³) via UniProtKB, MINT, STRING, and/or I2D (see all 23)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ENSG00000258947	Q13509³	I2D: score=1
TUBB3	Q13509³	I2D: score=1
AADAT	Q8N5Z0³	I2D: score=1
CNBP	P62633³	I2D: score=1
CYC1	P08574³	I2D: score=1

About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006844	acyl carnitine transport	--	--

SLC25A29 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SLC25A29

1 HMDB Compound for SLC25A29 About this table

Compound	Synonyms	CAS #	PubMed Ids
L-Carnitine	(-)-(R)-3-Hydroxy-4-(trimethylammonio)butyrate (see all 33)	541-15-1	--

1 DrugBank Compound for SLC25A29 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
L-Carnitine	(-)-Carnitine (see all 6)	541-15-1	target	--	12882971

Search CenterWatch for drugs/clinical trials and news about SLC25A29 / MCATL

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SLC25A29 gene (2 alternative transcripts):

NM_152333.2 NM_001039355.1

Unigene Cluster for SLC25A29:

Solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29

Hs.578109 [show with all ESTs]

Unigene Representative Sequence: BC142945

18/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):

ENST00000359232(uc001yha.3 uc010twx.2) ENST00000554912(uc010avv.3)

ENST00000392908 ENST00000556505 ENST00000555927 ENST00000554224 ENST00000556715

ENST00000554291 ENST00000554060 ENST00000556868(uc010avw.3) ENST00000555949

ENST00000555475 ENST00000553359 ENST00000556873 ENST00000553574 ENST00000555051

ENST00000557438 ENST00000555888

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		hsa-miR-3938 hsa-miR-122
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Additional cDNA sequence:

AK022257.1 AK096294.1 AK123821.1 AK172788.1 AK289627.1 AK310069.1 BC132964.1 BC132966.1

BC142945.1 BX247983.1

23 DOTS entries:

DT.214680 DT.100712015 DT.100762279 DT.97846372 DT.402813 DT.100760482 DT.95074435 DT.95074437

DT.100846131 DT.120772318 DT.100846130 DT.92049640 DT.99948601 DT.102830898 DT.120772404 DT.100690012

DT.100694178 DT.95074439 DT.100846132 DT.120772317 DT.75138213 DT.91792772 DT.95244185

24/296 AceView cDNA sequences (see all 296):

CR592557 CF131952 AW407585 CF541268 AI275835 AW469424 BX376193 BM709293

AI748806 AA505726 AI635838 BM762993 BX368247 BF340986 CR598575 H69511

AW151271 AA342394 AW771648 BE791151 BU508774 BU732438 BM669653 BQ227143

GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A29 (see all 11) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	^	2a	·	2b	·	2c	^	3	^	4	^	5	^	6	^	7	^	8a	·	8b	^	9	^	10a	·	10b	^	11a	·	11b	·	11c	·	11d	·	11e	·	11f
SP1:											-		-		-		-		-				-		-		-				-		-
SP2:
SP3:											-		-		-		-		-				-		-		-		-		-		-
SP4:																															-		-
SP5:																																	-

ECgene alternative splicing isoforms for SLC25A29

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SLC25A29 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCCAGCTGAC

About this image
See SLC25A29 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SLC25A29

SOURCE GeneReport for Unigene cluster: Hs.578109
SABiosciences Custom PCR Arrays for SLC25A29

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC25A29 gene from 9/29 species (see all 29) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	SLC25A29¹	solute carrier family 25, member 29	68.91(n) 76.43(a)		423456 XM_421366.2 XP_421366.1
lizard (Anolis carolinensis)	Reptilia	SLC25A29⁶	--	73(a)	1 ↔ 1	GL343270.1(967039-977521)
African clawed frog (Xenopus laevis)	Amphibia	Xl.16277²	Xenopus laevis transcribed sequence with weak similarity more	78.42(n)		BJ616122.1
zebrafish (Danio rerio)	Actinopterygii	slc25a29¹	solute carrier family 25, member 29	70.78(n) 73.67(a)		569608 NM_001030237.1 NP_001025408.1
fruit fly (Drosophila melanogaster)	Insecta	CG4995¹	CG4995	53.48(n) 48.51(a)		34390 NM_135536.3 NP_609380.1
worm (Caenorhabditis elegans)	Secernentea	C54G10.4¹	Protein C54G10.4	51.34(n) 50.19(a)		179969 NM_182334.2 NP_872134.1
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	YMC1(YPR058W)⁴ YMC1¹	Mitochondrial protein, putative inner membrane transporter more⁴ Ymc1p¹	44.53(n)¹ 39.77(a)¹		16(673751-674674)⁴ 856171^{1, 4} NP_015383.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	BAC2¹	Mitochondrial substrate carrier family protein	47.51(n) 39.18(a)		844329 NM_106639.4 NP_178108.1
rice (Oryza sativa)	Liliopsida	Os01g0225000¹	hypothetical protein	55.22(n) 43.66(a)		4326735 NM_001048991.1 NP_001042456.1

ENSEMBL Gene Tree for SLC25A29 (if available)
TreeFam Gene Tree for SLC25A29 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SLC25A29 gene

SLC25A45² SLC25A2² SLC25A20² SLC25A15² SLC25A48² SLC25A47²

10 SIMAP similar genes for SLC25A29 using alignment to 7 protein entries: MCATL_HUMAN (see all proteins):

FLJ00351 LOC283130 SLC25A47 SLC25A32 SLC25A48 SLC25A15

SLC25A2 SLC25A45 SLC25A20 SLC25A13

SLC25A29 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 14 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs61586044^1,2	C	--	100757090(+)	`TGAAAC/TGGTCA`	1	--	ds500¹		1		WA	2
rs59598792^1,2	C	--	100757164(+)	`CCGCCC/TGCCAG`	1	--	ds500¹		2		WA	120
rs182255909^1,2		--	100757249(+)	`CTGCAC/GCAGCG`	1	--	ds500¹		0	--	--	--	--
rs117184219^1,2	F	--	100757313(+)	`GTATCC/TGCAAC`	1	--	ds500¹		1		EA	120
rs113314242^1,2		--	100757314(+)	`TATCCA/C/GCAACT`	1	--	ds500¹		1		CSA	2
rs116275064^1,2	C	--	100757366(+)	`CACACA/GCACCC`	1	--	ds500¹		0	--	--	--	--
rs139918275^1,2		--	100757498(+)	`TACAGC/TGACAC`	1	--	ut3¹		0	--	--	--	--
rs188107614^1,2		--	100757526(+)	`AGTGTC/GGTCTT`	1	--	ut3¹		0	--	--	--	--
rs77232928^1,2		--	100757553(+)	`CAGGAC/TGCCTG`	1	--	ut3¹		0	--	--	--	--
rs9201^1,2	C	--	100757651(-)	`GCATTC/TTCAGT`	1	--	ut3¹ ese³		3		MN NA	188

HapMap Linkage Disequilibrium report for SLC25A29 (100757448 - 100772884 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for SLC25A29: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SLC25A29

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SLC25A29 for disorders About MalaCards

SLC25A29 for disorders About GeneDecksing

OMIM gene information: 615064 OMIM disorders: --

1 disease from the University of Copenhagen DISEASES database for SLC25A29:

Ornithine translocase deficiency

Human Genome Epidemiology (HuGE) Navigator: SLC25A29 (1 document)

Export disorders for SLC25A29 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for SLC25A29 gene integrated from 9 sources:
(articles sorted by number of sources associating them with SLC25A29)

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The human and mouse SLC25A29 mitochondrial transporte rs rescue the deficient ornithine metabolism in fibroblasts of patients with th e hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. (PubMed id 19287344)^{1, 2} Camacho J.A. and Rioseco-Camacho N. (2009)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
A novel mitochondrial carnitine-acylcarnitine translocase induced by partial hepatectomy and fasting. (PubMed id 12882971)^{1, 7} Sekoguchi E....Matsuura A. (2003)
Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)¹ Hendrickson S.L....O'Brien S.J. (2010)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )² Aoki H.... Hino O. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 123096	HGNC: 20116	AceView: SLC25A29	Ensembl:ENSG00000197119	euGenes: HUgn123096
ECgene: SLC25A29	H-InvDB: SLC25A29

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for SLC25A29	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SLC25A29 gene
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Patent Information for SLC25A29 gene:
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SLC25A29 Gene

solute carrier family 25 (mitochondrial carnitine/acylcarnitine...

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