MCATL_HUMAN
ID MCATL_HUMAN Reviewed; 303 AA.
AC Q8N8R3; A3KMR5; Q541V0;
DT 30-MAY-2003, integrated into UniProtKB/Swiss-Prot.
DT 30-MAY-2003, sequence version 2.
DT 03-AUG-2022, entry version 156.
DE RecName: Full=Mitochondrial basic amino acids transporter;
DE AltName: Full=Carnitine/acylcarnitine translocase-like;
DE Short=CACT-like;
DE AltName: Full=Mitochondrial carnitine/acylcarnitine carrier protein CACL;
DE AltName: Full=Mitochondrial ornithine transporter 3;
DE AltName: Full=Solute carrier family 25 member 29;
GN Name=SLC25A29; Synonyms=C14orf69, ORNT3;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Fetal brain;
RA Li W.B., Gruber C., Jessee J., Polayes D.;
RT "Full-length cDNA libraries and normalization.";
RL Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3).
RC TISSUE=Amygdala, Brain, Hepatoma, and Teratocarcinoma;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12508121; DOI=10.1038/nature01348;
RA Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
RA Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
RA Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H.,
RA Du H., Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T.,
RA Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B.,
RA Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D.,
RA Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R.,
RA Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S.,
RA Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C.,
RA Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S.,
RA Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C.,
RA Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P.,
RA Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
RA Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
RA Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J.,
RA Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F.,
RA Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F.,
RA Waterston R., Hood L., Weissenbach J.;
RT "The DNA sequence and analysis of human chromosome 14.";
RL Nature 421:601-607(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP FUNCTION, AND SUBCELLULAR LOCATION.
RX PubMed=19287344; DOI=10.1203/pdr.0b013e3181a283c1;
RA Camacho J.A., Rioseco-Camacho N.;
RT "The human and mouse SLC25A29 mitochondrial transporters rescue the
RT deficient ornithine metabolism in fibroblasts of patients with the
RT hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.";
RL Pediatr. Res. 66:35-41(2009).
RN [7]
RP FUNCTION, AND SUBSTRATE SPECIFICITY.
RX PubMed=24652292; DOI=10.1074/jbc.m114.547448;
RA Porcelli V., Fiermonte G., Longo A., Palmieri F.;
RT "The human gene SLC25A29, of solute carrier family 25, encodes a
RT mitochondrial transporter of basic amino acids.";
RL J. Biol. Chem. 289:13374-13384(2014).
RN [8]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
CC -!- FUNCTION: Transports arginine, lysine, homoarginine, methylarginine
CC and, to a much lesser extent, ornithine and histidine
CC (PubMed:24652292). Can restore ornithine transport in cells lacking the
CC primary mitochondrial ornithine transporter SLC25A15 (PubMed:19287344).
CC Does not transport carnitine nor acylcarnitines (PubMed:24652292).
CC Functions by both counter-exchange and uniport mechanisms
CC (PubMed:24652292). {ECO:0000269|PubMed:19287344,
CC ECO:0000269|PubMed:24652292}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane
CC {ECO:0000269|PubMed:19287344}; Multi-pass membrane protein
CC {ECO:0000269|PubMed:19287344}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8N8R3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N8R3-2; Sequence=VSP_046286, VSP_046287;
CC Name=3;
CC IsoId=Q8N8R3-3; Sequence=VSP_055335;
CC -!- MISCELLANEOUS: [Isoform 2]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the mitochondrial carrier (TC 2.A.29) family.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAD62317.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; BX247983; CAD62317.1; ALT_INIT; mRNA.
DR EMBL; AK095532; BAG53079.1; -; mRNA.
DR EMBL; AK096294; BAC04751.1; -; mRNA.
DR EMBL; AK123821; BAG53964.1; -; mRNA.
DR EMBL; AK172788; BAD18767.1; -; mRNA.
DR EMBL; AK289627; BAF82316.1; -; mRNA.
DR EMBL; AL157871; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471061; EAW81692.1; -; Genomic_DNA.
DR EMBL; CH471061; EAW81695.1; -; Genomic_DNA.
DR EMBL; BC132964; AAI32965.1; -; mRNA.
DR EMBL; BC132966; AAI32967.1; -; mRNA.
DR CCDS; CCDS32156.1; -. [Q8N8R3-1]
DR RefSeq; NP_001034444.1; NM_001039355.2. [Q8N8R3-1]
DR RefSeq; NP_001278742.1; NM_001291813.1. [Q8N8R3-3]
DR RefSeq; NP_001278743.1; NM_001291814.1. [Q8N8R3-3]
DR RefSeq; NP_689546.1; NM_152333.3. [Q8N8R3-3]
DR RefSeq; XP_011534748.1; XM_011536446.1.
DR RefSeq; XP_011534749.1; XM_011536447.1. [Q8N8R3-3]
DR RefSeq; XP_011534750.1; XM_011536448.1. [Q8N8R3-3]
DR RefSeq; XP_016876469.1; XM_017020980.1.
DR RefSeq; XP_016876470.1; XM_017020981.1.
DR RefSeq; XP_016876471.1; XM_017020982.1.
DR RefSeq; XP_016876472.1; XM_017020983.1.
DR RefSeq; XP_016876473.1; XM_017020984.1.
DR RefSeq; XP_016876474.1; XM_017020985.1.
DR RefSeq; XP_016876475.1; XM_017020986.1.
DR RefSeq; XP_016876476.1; XM_017020987.1.
DR AlphaFoldDB; Q8N8R3; -.
DR SMR; Q8N8R3; -.
DR BioGRID; 125814; 95.
DR IntAct; Q8N8R3; 1.
DR STRING; 9606.ENSP00000352167; -.
DR DrugBank; DB00583; Levocarnitine.
DR TCDB; 2.A.29.8.9; the mitochondrial carrier (mc) family.
DR iPTMnet; Q8N8R3; -.
DR PhosphoSitePlus; Q8N8R3; -.
DR BioMuta; SLC25A29; -.
DR DMDM; 31340019; -.
DR EPD; Q8N8R3; -.
DR jPOST; Q8N8R3; -.
DR MassIVE; Q8N8R3; -.
DR MaxQB; Q8N8R3; -.
DR PaxDb; Q8N8R3; -.
DR PeptideAtlas; Q8N8R3; -.
DR PRIDE; Q8N8R3; -.
DR ProteomicsDB; 580; -.
DR ProteomicsDB; 72454; -. [Q8N8R3-1]
DR Antibodypedia; 14405; 36 antibodies from 16 providers.
DR DNASU; 123096; -.
DR Ensembl; ENST00000359232.8; ENSP00000352167.3; ENSG00000197119.13. [Q8N8R3-1]
DR Ensembl; ENST00000392908.7; ENSP00000376640.3; ENSG00000197119.13. [Q8N8R3-2]
DR Ensembl; ENST00000554912.1; ENSP00000450913.1; ENSG00000197119.13. [Q8N8R3-3]
DR Ensembl; ENST00000555927.5; ENSP00000452078.1; ENSG00000197119.13. [Q8N8R3-3]
DR Ensembl; ENST00000556505.5; ENSP00000452446.1; ENSG00000197119.13. [Q8N8R3-3]
DR GeneID; 123096; -.
DR KEGG; hsa:123096; -.
DR MANE-Select; ENST00000359232.8; ENSP00000352167.3; NM_001039355.3; NP_001034444.1.
DR UCSC; uc001yha.4; human. [Q8N8R3-1]
DR CTD; 123096; -.
DR DisGeNET; 123096; -.
DR GeneCards; SLC25A29; -.
DR HGNC; HGNC:20116; SLC25A29.
DR HPA; ENSG00000197119; Tissue enriched (thyroid).
DR MIM; 615064; gene.
DR neXtProt; NX_Q8N8R3; -.
DR OpenTargets; ENSG00000197119; -.
DR PharmGKB; PA134980581; -.
DR VEuPathDB; HostDB:ENSG00000197119; -.
DR eggNOG; KOG0762; Eukaryota.
DR GeneTree; ENSGT00940000157766; -.
DR HOGENOM; CLU_015166_16_1_1; -.
DR InParanoid; Q8N8R3; -.
DR OMA; IFWLTSY; -.
DR OrthoDB; 1072378at2759; -.
DR PhylomeDB; Q8N8R3; -.
DR TreeFam; TF351739; -.
DR PathwayCommons; Q8N8R3; -.
DR Reactome; R-HSA-352230; Amino acid transport across the plasma membrane.
DR BioGRID-ORCS; 123096; 12 hits in 1078 CRISPR screens.
DR ChiTaRS; SLC25A29; human.
DR GenomeRNAi; 123096; -.
DR Pharos; Q8N8R3; Tbio.
DR PRO; PR:Q8N8R3; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q8N8R3; protein.
DR Bgee; ENSG00000197119; Expressed in right uterine tube and 171 other tissues.
DR ExpressionAtlas; Q8N8R3; baseline and differential.
DR Genevisible; Q8N8R3; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005743; C:mitochondrial inner membrane; TAS:Reactome.
DR GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
DR GO; GO:0015174; F:basic amino acid transmembrane transporter activity; IMP:UniProtKB.
DR GO; GO:0005289; F:high-affinity L-arginine transmembrane transporter activity; IDA:UniProtKB.
DR GO; GO:0005292; F:high-affinity lysine transmembrane transporter activity; IDA:UniProtKB.
DR GO; GO:0022857; F:transmembrane transporter activity; IBA:GO_Central.
DR GO; GO:0006844; P:acyl carnitine transport; IEA:Ensembl.
DR GO; GO:0006865; P:amino acid transport; TAS:Reactome.
DR GO; GO:1903826; P:L-arginine transmembrane transport; IDA:UniProtKB.
DR GO; GO:0089709; P:L-histidine transmembrane transport; IDA:UniProtKB.
DR GO; GO:1903401; P:L-lysine transmembrane transport; IDA:UniProtKB.
DR GO; GO:1990575; P:mitochondrial L-ornithine transmembrane transport; IMP:UniProtKB.
DR GO; GO:0015822; P:ornithine transport; IDA:UniProtKB.
DR Gene3D; 1.50.40.10; -; 1.
DR InterPro; IPR002067; Mit_carrier.
DR InterPro; IPR018108; Mitochondrial_sb/sol_carrier.
DR InterPro; IPR023395; Mt_carrier_dom_sf.
DR Pfam; PF00153; Mito_carr; 3.
DR PRINTS; PR00926; MITOCARRIER.
DR SUPFAM; SSF103506; SSF103506; 1.
DR PROSITE; PS50920; SOLCAR; 3.
PE 1: Evidence at protein level;
KW Alternative splicing; Amino-acid transport; Membrane; Mitochondrion;
KW Mitochondrion inner membrane; Reference proteome; Repeat; Transmembrane;
KW Transmembrane helix; Transport.
FT CHAIN 1..303
FT /note="Mitochondrial basic amino acids transporter"
FT /id="PRO_0000090632"
FT TRANSMEM 2..22
FT /note="Helical; Name=1"
FT /evidence="ECO:0000255"
FT TRANSMEM 61..81
FT /note="Helical; Name=2"
FT /evidence="ECO:0000255"
FT TRANSMEM 96..116
FT /note="Helical; Name=3"
FT /evidence="ECO:0000255"
FT TRANSMEM 153..172
FT /note="Helical; Name=4"
FT /evidence="ECO:0000255"
FT TRANSMEM 187..207
FT /note="Helical; Name=5"
FT /evidence="ECO:0000255"
FT TRANSMEM 255..275
FT /note="Helical; Name=6"
FT /evidence="ECO:0000255"
FT REPEAT 2..86
FT /note="Solcar 1"
FT REPEAT 90..178
FT /note="Solcar 2"
FT REPEAT 185..275
FT /note="Solcar 3"
FT REGION 282..303
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..66
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_055335"
FT VAR_SEQ 13..145
FT /note="VAGVLVGHPFDTVKVRLQVQSVEKPQYRGTLHCFKSIIKQESVLGLYKGLGS
FT PLMGLTFINALVFGVQGNTLRALGHDSPLNQFLAGAAAGAIQCVICCPMELAKTRLQLQ
FT DAGPARTYKGSLDCLAQIYGHE -> TASGPERGEASVPRDVALLQVHHQARERAGPVQ
FT GPGLAAHGAHLHQRAGVRGAGQHPPGPGPRLAPQPVPGRCGGGRHPVRHLLPHGAGQDA
FT AAAAGRGPSAHLQGLAGLPRADLRARGSAWRQPGHGVHVAA (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_046286"
FT VAR_SEQ 146..303
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_046287"
SQ SEQUENCE 303 AA; 32062 MW; 34C2D596781EE58A CRC64;
MALDFLAGCA GGVAGVLVGH PFDTVKVRLQ VQSVEKPQYR GTLHCFKSII KQESVLGLYK
GLGSPLMGLT FINALVFGVQ GNTLRALGHD SPLNQFLAGA AAGAIQCVIC CPMELAKTRL
QLQDAGPART YKGSLDCLAQ IYGHEGLRGV NRGMVSTLLR ETPSFGVYFL TYDALTRALG
CEPGDRLLVP KLLLAGGTSG IVSWLSTYPV DVVKSRLQAD GLRGAPRYRG ILDCVHQSYR
AEGWRVFTRG LASTLLRAFP VNAATFATVT VVLTYARGEE AGPEGEAVPA APAGPALAQP
SSL
