S2542_HUMAN
ID S2542_HUMAN Reviewed; 318 AA.
AC Q86VD7; D2T2J5; O14553; O43378;
DT 26-JUN-2007, integrated into UniProtKB/Swiss-Prot.
DT 26-JUN-2007, sequence version 2.
DT 03-AUG-2022, entry version 146.
DE RecName: Full=Mitochondrial coenzyme A transporter SLC25A42;
DE AltName: Full=Solute carrier family 25 member 42;
GN Name=SLC25A42;
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 [MRNA], VARIANT MET-312, FUNCTION, AND SUBCELLULAR
RP LOCATION.
RX PubMed=19429682; DOI=10.1074/jbc.m109.014118;
RA Fiermonte G., Paradies E., Todisco S., Marobbio C.M., Palmieri F.;
RT "A novel member of solute carrier family 25 (SLC25A42) is a transporter of
RT coenzyme A and adenosine 3',5'-diphosphate in human mitochondria.";
RL J. Biol. Chem. 284:18152-18159(2009).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS PRO-39 AND MET-312.
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 [4]
RP IDENTIFICATION.
RX PubMed=16949250; DOI=10.1016/j.ygeno.2006.06.016;
RA Haitina T., Lindblom J., Renstroem T., Fredriksson R.;
RT "Fourteen novel human members of mitochondrial solute carrier family 25
RT (SLC25) widely expressed in the central nervous system.";
RL Genomics 88:779-790(2006).
RN [5]
RP INVOLVEMENT IN MECREN, VARIANT MECREN ASP-291, AND CHARACTERIZATION OF
RP VARIANT MECREN ASP-291.
RX PubMed=26541337; DOI=10.1007/s00439-015-1608-8;
RA Shamseldin H.E., Smith L.L., Kentab A., Alkhalidi H., Summers B.,
RA Alsedairy H., Xiong Y., Gupta V.A., Alkuraya F.S.;
RT "Mutation of the mitochondrial carrier SLC25A42 causes a novel form of
RT mitochondrial myopathy in humans.";
RL Hum. Genet. 135:21-30(2016).
RN [6]
RP INVOLVEMENT IN MECREN, AND VARIANT MECREN ASP-291.
RX PubMed=29327420; DOI=10.1111/cge.13210;
RA Almannai M., Alasmari A., Alqasmi A., Faqeih E., Al Mutairi F.,
RA Alotaibi M., Samman M.M., Eyaid W., Aljadhai Y.I., Shamseldin H.E.,
RA Craigen W., Alkuraya F.S.;
RT "Expanding the phenotype of SLC25A42-associated mitochondrial
RT encephalomyopathy.";
RL Clin. Genet. 93:1097-1102(2018).
RN [7]
RP VARIANT MECREN ASP-291.
RX PubMed=30237576; DOI=10.1038/s41436-018-0138-x;
RA Maddirevula S., Alzahrani F., Al-Owain M., Al Muhaizea M.A., Kayyali H.R.,
RA AlHashem A., Rahbeeni Z., Al-Otaibi M., Alzaidan H.I., Balobaid A.,
RA El Khashab H.Y., Bubshait D.K., Faden M., Yamani S.A., Dabbagh O.,
RA Al-Mureikhi M., Jasser A.A., Alsaif H.S., Alluhaydan I., Seidahmed M.Z.,
RA Alabbasi B.H., Almogarri I., Kurdi W., Akleh H., Qari A., Al Tala S.M.,
RA Alhomaidi S., Kentab A.Y., Salih M.A., Chedrawi A., Alameer S., Tabarki B.,
RA Shamseldin H.E., Patel N., Ibrahim N., Abdulwahab F., Samira M., Goljan E.,
RA Abouelhoda M., Meyer B.F., Hashem M., Shaheen R., AlShahwan S.,
RA Alfadhel M., Ben-Omran T., Al-Qattan M.M., Monies D., Alkuraya F.S.;
RT "Autozygome and high throughput confirmation of disease genes candidacy.";
RL Genet. Med. 21:736-742(2019).
RN [8]
RP VARIANT MECREN ASP-291.
RX PubMed=29923093; DOI=10.1007/8904_2018_115;
RA Iuso A., Alhaddad B., Weigel C., Kotzaeridou U., Mastantuono E.,
RA Schwarzmayr T., Graf E., Terrile C., Prokisch H., Strom T.M.,
RA Hoffmann G.F., Meitinger T., Haack T.B.;
RT "A homozygous splice site mutation in SLC25A42, encoding the mitochondrial
RT transporter of coenzyme A, causes metabolic crises and epileptic
RT encephalopathy.";
RL JIMD Rep. 44:1-7(2019).
CC -!- FUNCTION: Mitochondrial carrier mediating the transport of coenzyme A
CC (CoA) in mitochondria in exchange for intramitochondrial (deoxy)adenine
CC nucleotides and adenosine 3',5'-diphosphate.
CC {ECO:0000269|PubMed:19429682}.
CC -!- INTERACTION:
CC Q86VD7; Q15323: KRT31; NbExp=3; IntAct=EBI-6598313, EBI-948001;
CC Q86VD7; O76011: KRT34; NbExp=3; IntAct=EBI-6598313, EBI-1047093;
CC Q86VD7; P60410: KRTAP10-8; NbExp=3; IntAct=EBI-6598313, EBI-10171774;
CC Q86VD7; Q5JR59-3: MTUS2; NbExp=3; IntAct=EBI-6598313, EBI-11522433;
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane
CC {ECO:0000269|PubMed:19429682}; Multi-pass membrane protein
CC {ECO:0000269|PubMed:19429682}.
CC -!- DISEASE: Metabolic crises, recurrent, with variable encephalomyopathic
CC features and neurologic regression (MECREN) [MIM:618416]: An autosomal
CC recessive disease characterized by muscle weakness, developmental
CC delay, lactic acidosis, and encephalopathy. The severity of the
CC clinical manifestations is highly variable even within affected
CC individuals of the same family, ranging from asymptomatic lactic
CC acidosis to severe developmental regression, epilepsy, intellectual
CC disability, metabolic crisis, and multiorgan involvement.
CC {ECO:0000269|PubMed:26541337, ECO:0000269|PubMed:29327420,
CC ECO:0000269|PubMed:29923093, ECO:0000269|PubMed:30237576}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SIMILARITY: Belongs to the mitochondrial carrier (TC 2.A.29) family.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAC02758.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; FN356975; CAX94853.1; -; mRNA.
DR EMBL; AC002126; AAB86983.1; -; Genomic_DNA.
DR EMBL; AC004143; AAC02758.1; ALT_SEQ; Genomic_DNA.
DR EMBL; BC045598; AAH45598.1; -; mRNA.
DR CCDS; CCDS32966.1; -.
DR RefSeq; NP_001308473.1; NM_001321544.1.
DR RefSeq; NP_848621.2; NM_178526.4.
DR RefSeq; XP_005259918.1; XM_005259861.3.
DR RefSeq; XP_011526239.1; XM_011527937.2.
DR AlphaFoldDB; Q86VD7; -.
DR SMR; Q86VD7; -.
DR BioGRID; 129877; 13.
DR IntAct; Q86VD7; 6.
DR STRING; 9606.ENSP00000326693; -.
DR TCDB; 2.A.29.12.2; the mitochondrial carrier (mc) family.
DR iPTMnet; Q86VD7; -.
DR PhosphoSitePlus; Q86VD7; -.
DR BioMuta; SLC25A42; -.
DR DMDM; 150416122; -.
DR jPOST; Q86VD7; -.
DR MassIVE; Q86VD7; -.
DR MaxQB; Q86VD7; -.
DR PaxDb; Q86VD7; -.
DR PeptideAtlas; Q86VD7; -.
DR PRIDE; Q86VD7; -.
DR ProteomicsDB; 69988; -.
DR Antibodypedia; 28336; 41 antibodies from 15 providers.
DR DNASU; 284439; -.
DR Ensembl; ENST00000318596.8; ENSP00000326693.6; ENSG00000181035.14.
DR GeneID; 284439; -.
DR KEGG; hsa:284439; -.
DR MANE-Select; ENST00000318596.8; ENSP00000326693.6; NM_178526.5; NP_848621.2.
DR UCSC; uc002nlf.5; human.
DR CTD; 284439; -.
DR DisGeNET; 284439; -.
DR GeneCards; SLC25A42; -.
DR HGNC; HGNC:28380; SLC25A42.
DR HPA; ENSG00000181035; Tissue enhanced (liver).
DR MalaCards; SLC25A42; -.
DR MIM; 610823; gene.
DR MIM; 618416; phenotype.
DR neXtProt; NX_Q86VD7; -.
DR OpenTargets; ENSG00000181035; -.
DR PharmGKB; PA162403703; -.
DR VEuPathDB; HostDB:ENSG00000181035; -.
DR eggNOG; KOG0752; Eukaryota.
DR GeneTree; ENSGT00940000158163; -.
DR HOGENOM; CLU_015166_10_1_1; -.
DR InParanoid; Q86VD7; -.
DR OMA; VYERMKW; -.
DR OrthoDB; 1253450at2759; -.
DR PhylomeDB; Q86VD7; -.
DR TreeFam; TF314806; -.
DR PathwayCommons; Q86VD7; -.
DR SignaLink; Q86VD7; -.
DR BioGRID-ORCS; 284439; 22 hits in 1080 CRISPR screens.
DR ChiTaRS; SLC25A42; human.
DR GenomeRNAi; 284439; -.
DR Pharos; Q86VD7; Tbio.
DR PRO; PR:Q86VD7; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q86VD7; protein.
DR Bgee; ENSG00000181035; Expressed in right lobe of liver and 160 other tissues.
DR ExpressionAtlas; Q86VD7; baseline and differential.
DR Genevisible; Q86VD7; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005743; C:mitochondrial inner membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
DR GO; GO:0005634; C:nucleus; HDA:UniProtKB.
DR GO; GO:0043262; F:adenosine-diphosphatase activity; IDA:UniProtKB.
DR GO; GO:0015217; F:ADP transmembrane transporter activity; IDA:UniProtKB.
DR GO; GO:0080122; F:AMP transmembrane transporter activity; IDA:UniProtKB.
DR GO; GO:0005347; F:ATP transmembrane transporter activity; IDA:UniProtKB.
DR GO; GO:0015228; F:coenzyme A transmembrane transporter activity; IDA:UniProtKB.
DR GO; GO:0015866; P:ADP transport; IDA:UniProtKB.
DR GO; GO:0080121; P:AMP transport; IDA:UniProtKB.
DR GO; GO:0015867; P:ATP transport; IDA:UniProtKB.
DR GO; GO:0035349; P:coenzyme A transmembrane transport; IDA:UniProtKB.
DR Gene3D; 1.50.40.10; -; 1.
DR InterPro; IPR014762; DNA_mismatch_repair_CS.
DR InterPro; IPR002167; Graves_DC.
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; PR00928; GRAVESDC.
DR PRINTS; PR00926; MITOCARRIER.
DR SUPFAM; SSF103506; SSF103506; 1.
DR PROSITE; PS50920; SOLCAR; 3.
PE 1: Evidence at protein level;
KW Disease variant; Membrane; Mitochondrion; Mitochondrion inner membrane;
KW Reference proteome; Repeat; Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1..318
FT /note="Mitochondrial coenzyme A transporter SLC25A42"
FT /id="PRO_0000292336"
FT TRANSMEM 33..53
FT /note="Helical; Name=1"
FT /evidence="ECO:0000255"
FT TRANSMEM 89..109
FT /note="Helical; Name=2"
FT /evidence="ECO:0000255"
FT TRANSMEM 135..155
FT /note="Helical; Name=3"
FT /evidence="ECO:0000255"
FT TRANSMEM 186..206
FT /note="Helical; Name=4"
FT /evidence="ECO:0000255"
FT TRANSMEM 230..250
FT /note="Helical; Name=5"
FT /evidence="ECO:0000255"
FT TRANSMEM 293..313
FT /note="Helical; Name=6"
FT /evidence="ECO:0000255"
FT REPEAT 31..117
FT /note="Solcar 1"
FT REPEAT 129..214
FT /note="Solcar 2"
FT REPEAT 224..312
FT /note="Solcar 3"
FT VARIANT 39
FT /note="S -> P (in dbSNP:rs17854359)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_032970"
FT VARIANT 291
FT /note="N -> D (in MECREN; loss-of-function variant unable
FT to rescue motor deficiencies in zebrafish morphants;
FT dbSNP:rs864321624)"
FT /evidence="ECO:0000269|PubMed:26541337,
FT ECO:0000269|PubMed:29327420, ECO:0000269|PubMed:29923093,
FT ECO:0000269|PubMed:30237576"
FT /id="VAR_082152"
FT VARIANT 312
FT /note="L -> M (in dbSNP:rs17854358)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:19429682"
FT /id="VAR_032971"
SQ SEQUENCE 318 AA; 35409 MW; D42F26C200D3EACF CRC64;
MGNGVKEGPV RLHEDAEAVL SSSVSSKRDH RQVLSSLLSG ALAGALAKTA VAPLDRTKII
FQVSSKRFSA KEAFRVLYYT YLNEGFLSLW RGNSATMVRV VPYAAIQFSA HEEYKRILGS
YYGFRGEALP PWPRLFAGAL AGTTAASLTY PLDLVRARMA VTPKEMYSNI FHVFIRISRE
EGLKTLYHGF MPTVLGVIPY AGLSFFTYET LKSLHREYSG RRQPYPFERM IFGACAGLIG
QSASYPLDVV RRRMQTAGVT GYPRASIART LRTIVREEGA VRGLYKGLSM NWVKGPIAVG
ISFTTFDLMQ ILLRHLQS
