S2551_HUMAN
ID S2551_HUMAN Reviewed; 297 AA.
AC Q9H1U9;
DT 28-NOV-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 161.
DE RecName: Full=Mitochondrial nicotinamide adenine dinucleotide transporter SLC25A51 {ECO:0000305};
DE AltName: Full=Mitochondrial NAD(+) transporter SLC25A51 {ECO:0000305};
DE AltName: Full=Mitochondrial carrier triple repeat protein 1 {ECO:0000303|PubMed:33087354};
DE AltName: Full=Solute carrier family 25 member 51 {ECO:0000303|PubMed:32906142};
GN Name=SLC25A51 {ECO:0000303|PubMed:32906142, ECO:0000312|HGNC:HGNC:23323};
GN Synonyms=MCART1 {ECO:0000303|PubMed:33087354, ECO:0000312|HGNC:HGNC:23323};
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 GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [3]
RP VARIANT [LARGE SCALE ANALYSIS] MET-205.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
RN [4]
RP FUNCTION, TRANSPORTER ACTIVITY, AND SUBCELLULAR LOCATION.
RX PubMed=32906142; DOI=10.1038/s41586-020-2741-7;
RA Luongo T.S., Eller J.M., Lu M.J., Niere M., Raith F., Perry C.,
RA Bornstein M.R., Oliphint P., Wang L., McReynolds M.R., Migaud M.E.,
RA Rabinowitz J.D., Johnson F.B., Johnsson K., Ziegler M., Cambronne X.A.,
RA Baur J.A.;
RT "SLC25A51 is a mammalian mitochondrial NAD+ transporter.";
RL Nature 588:174-179(2020).
RN [5]
RP FUNCTION.
RX PubMed=33262325; DOI=10.1038/s41467-020-19871-x;
RA Girardi E., Agrimi G., Goldmann U., Fiume G., Lindinger S., Sedlyarov V.,
RA Srndic I., Guertl B., Agerer B., Kartnig F., Scarcia P., Di Noia M.A.,
RA Lineiro E., Rebsamen M., Wiedmer T., Bergthaler A., Palmieri L.,
RA Superti-Furga G.;
RT "Epistasis-driven identification of SLC25A51 as a regulator of human
RT mitochondrial NAD import.";
RL Nat. Commun. 11:6145-6145(2020).
RN [6]
RP FUNCTION, SUBCELLULAR LOCATION, AND MUTAGENESIS OF LYS-91 AND ARG-278.
RX PubMed=33087354; DOI=10.1126/sciadv.abe5310;
RA Kory N., Uit de Bos J., van der Rijt S., Jankovic N., Guera M., Arp N.,
RA Pena I.A., Prakash G., Chan S.H., Kunchok T., Lewis C.A., Sabatini D.M.;
RT "MCART1/SLC25A51 is required for mitochondrial NAD transport.";
RL Sci. Adv. 6:0-0(2020).
CC -!- FUNCTION: Mitochondrial membrane carrier protein that mediates the
CC import of NAD(+) into mitochondria (PubMed:32906142, PubMed:33262325).
CC Mitochondrial NAD(+) is required for glycolysis and mitochondrial
CC respiration (PubMed:32906142, PubMed:33262325). Compared to SLC25A52,
CC SLC25A51-mediated transport is essential for the import of NAD(+) in
CC mitochondria (PubMed:32906142). {ECO:0000269|PubMed:32906142,
CC ECO:0000269|PubMed:33262325}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane
CC {ECO:0000269|PubMed:33087354, ECO:0000305|PubMed:32906142}; Multi-pass
CC membrane protein {ECO:0000255}.
CC -!- SIMILARITY: Belongs to the mitochondrial carrier (TC 2.A.29) family.
CC {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AL138752; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC008500; AAH08500.1; -; mRNA.
DR CCDS; CCDS6614.1; -.
DR RefSeq; NP_219480.1; NM_033412.3.
DR AlphaFoldDB; Q9H1U9; -.
DR SMR; Q9H1U9; -.
DR BioGRID; 124902; 151.
DR IntAct; Q9H1U9; 12.
DR STRING; 9606.ENSP00000366945; -.
DR TCDB; 2.A.29.2.14; the mitochondrial carrier (mc) family.
DR iPTMnet; Q9H1U9; -.
DR PhosphoSitePlus; Q9H1U9; -.
DR BioMuta; SLC25A51; -.
DR DMDM; 38605048; -.
DR EPD; Q9H1U9; -.
DR jPOST; Q9H1U9; -.
DR MassIVE; Q9H1U9; -.
DR MaxQB; Q9H1U9; -.
DR PaxDb; Q9H1U9; -.
DR PeptideAtlas; Q9H1U9; -.
DR PRIDE; Q9H1U9; -.
DR ProteomicsDB; 80448; -.
DR Antibodypedia; 26329; 107 antibodies from 18 providers.
DR DNASU; 92014; -.
DR Ensembl; ENST00000242275.7; ENSP00000242275.6; ENSG00000122696.14.
DR Ensembl; ENST00000377716.6; ENSP00000366945.2; ENSG00000122696.14.
DR GeneID; 92014; -.
DR KEGG; hsa:92014; -.
DR MANE-Select; ENST00000242275.7; ENSP00000242275.6; NM_033412.4; NP_219480.1.
DR UCSC; uc004aav.3; human.
DR CTD; 92014; -.
DR DisGeNET; 92014; -.
DR GeneCards; SLC25A51; -.
DR HGNC; HGNC:23323; SLC25A51.
DR HPA; ENSG00000122696; Low tissue specificity.
DR MIM; 619153; gene.
DR neXtProt; NX_Q9H1U9; -.
DR OpenTargets; ENSG00000122696; -.
DR PharmGKB; PA134888553; -.
DR VEuPathDB; HostDB:ENSG00000122696; -.
DR eggNOG; KOG1519; Eukaryota.
DR GeneTree; ENSGT00940000155622; -.
DR HOGENOM; CLU_061821_0_0_1; -.
DR InParanoid; Q9H1U9; -.
DR OMA; NTAHIFR; -.
DR OrthoDB; 966424at2759; -.
DR PhylomeDB; Q9H1U9; -.
DR TreeFam; TF314192; -.
DR PathwayCommons; Q9H1U9; -.
DR SignaLink; Q9H1U9; -.
DR BioGRID-ORCS; 92014; 45 hits in 1001 CRISPR screens.
DR ChiTaRS; SLC25A51; human.
DR GenomeRNAi; 92014; -.
DR Pharos; Q9H1U9; Tbio.
DR PRO; PR:Q9H1U9; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q9H1U9; protein.
DR Bgee; ENSG00000122696; Expressed in islet of Langerhans and 122 other tissues.
DR Genevisible; Q9H1U9; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005743; C:mitochondrial inner membrane; IDA:UniProtKB.
DR GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
DR GO; GO:0051724; F:NAD transmembrane transporter activity; IDA:UniProtKB.
DR GO; GO:0019646; P:aerobic electron transport chain; IMP:UniProtKB.
DR GO; GO:1990549; P:mitochondrial NAD transmembrane transport; IDA:UniProtKB.
DR GO; GO:1990542; P:mitochondrial transmembrane transport; IBA:GO_Central.
DR Gene3D; 1.50.40.10; -; 1.
DR InterPro; IPR018108; Mitochondrial_sb/sol_carrier.
DR InterPro; IPR023395; Mt_carrier_dom_sf.
DR Pfam; PF00153; Mito_carr; 3.
DR SUPFAM; SSF103506; SSF103506; 1.
DR PROSITE; PS50920; SOLCAR; 3.
PE 1: Evidence at protein level;
KW Membrane; Mitochondrion; Mitochondrion inner membrane; Reference proteome;
KW Repeat; Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1..297
FT /note="Mitochondrial nicotinamide adenine dinucleotide
FT transporter SLC25A51"
FT /id="PRO_0000090711"
FT TRANSMEM 36..56
FT /note="Helical; Name=1"
FT /evidence="ECO:0000255"
FT TRANSMEM 85..105
FT /note="Helical; Name=2"
FT /evidence="ECO:0000255"
FT TRANSMEM 116..135
FT /note="Helical; Name=3"
FT /evidence="ECO:0000255"
FT TRANSMEM 179..199
FT /note="Helical; Name=4"
FT /evidence="ECO:0000255"
FT TRANSMEM 215..235
FT /note="Helical; Name=5"
FT /evidence="ECO:0000255"
FT TRANSMEM 268..289
FT /note="Helical; Name=6"
FT /evidence="ECO:0000255"
FT REPEAT 28..108
FT /note="Solcar 1"
FT /evidence="ECO:0000255"
FT REPEAT 116..200
FT /note="Solcar 2"
FT /evidence="ECO:0000255"
FT REPEAT 213..296
FT /note="Solcar 3"
FT /evidence="ECO:0000255"
FT REGION 1..20
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 205
FT /note="T -> M (in a breast cancer sample; somatic mutation;
FT dbSNP:rs780199922)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036333"
FT MUTAGEN 91
FT /note="K->A: Impaired import of NAD(+) into mitochondria."
FT /evidence="ECO:0000269|PubMed:33087354"
FT MUTAGEN 278
FT /note="R->A: Impaired import of NAD(+) into mitochondria."
FT /evidence="ECO:0000269|PubMed:33087354"
SQ SEQUENCE 297 AA; 33672 MW; 2AE13422BEDC5F1E CRC64;
MMDSEAHEKR PPILTSSKQD ISPHITNVGE MKHYLCGCCA AFNNVAITFP IQKVLFRQQL
YGIKTRDAIL QLRRDGFRNL YRGILPPLMQ KTTTLALMFG LYEDLSCLLH KHVSAPEFAT
SGVAAVLAGT TEAIFTPLER VQTLLQDHKH HDKFTNTYQA FKALKCHGIG EYYRGLVPIL
FRNGLSNVLF FGLRGPIKEH LPTATTHSAH LVNDFICGGL LGAMLGFLFF PINVVKTRIQ
SQIGGEFQSF PKVFQKIWLE RDRKLINLFR GAHLNYHRSL ISWGIINATY EFLLKVI
