S2541_HUMAN
ID S2541_HUMAN Reviewed; 370 AA.
AC Q8N5S1; A8MQ40; D6W642; Q8N7R4;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 26-FEB-2008, sequence version 2.
DT 03-AUG-2022, entry version 143.
DE RecName: Full=Mitochondrial carrier protein SCaMC-3L {ECO:0000305};
DE AltName: Full=Mitochondrial ATP-Mg/Pi carrier protein SLC25A41 {ECO:0000305};
DE AltName: Full=Small calcium-binding mitochondrial carrier protein 3-like;
DE Short=SCaMC-3-like {ECO:0000250|UniProtKB:Q8BVN7};
DE Short=SCaMC-3L {ECO:0000250|UniProtKB:Q8BVN7};
DE AltName: Full=Solute carrier family 25 member 41;
GN Name=SLC25A41 {ECO:0000312|HGNC:HGNC:28533};
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] {ECO:0000305, ECO:0000312|EMBL:BAC05163.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis {ECO:0000312|EMBL:BAC05163.1};
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 [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 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 [4] {ECO:0000305, ECO:0000312|EMBL:AAH31671.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain {ECO:0000312|EMBL:AAH31671.1};
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 [5] {ECO:0000305}
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).
CC -!- FUNCTION: Calcium-independent ATP-Mg/Pi exchanger that catalyzes the
CC electroneutral exchange of Mg-ATP or free ADP against an
CC hydrogenphosphate and participates in the net transport of adenine
CC nucleotides across the mitochondria inner membrane.
CC {ECO:0000250|UniProtKB:Q8BVN7}.
CC -!- CATALYTIC ACTIVITY:
CC Reaction=ATP(out) + Mg(2+)(out) + phosphate(in) = ATP(in) + Mg(2+)(in)
CC + phosphate(out); Xref=Rhea:RHEA:65840, ChEBI:CHEBI:18420,
CC ChEBI:CHEBI:30616, ChEBI:CHEBI:43474;
CC Evidence={ECO:0000250|UniProtKB:Q8BVN7};
CC -!- CATALYTIC ACTIVITY:
CC Reaction=ADP(out) + phosphate(in) = ADP(in) + phosphate(out);
CC Xref=Rhea:RHEA:65844, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216;
CC Evidence={ECO:0000250|UniProtKB:Q8BVN7};
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane
CC {ECO:0000250|UniProtKB:Q8BVN7}; Multi-pass membrane protein
CC {ECO:0000250|UniProtKB:O94502}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1 {ECO:0000269|PubMed:15489334};
CC IsoId=Q8N5S1-1; Sequence=Displayed;
CC Name=2 {ECO:0000269|PubMed:14702039};
CC IsoId=Q8N5S1-2; Sequence=VSP_052690, VSP_035524;
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=AAH31671.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAC05163.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
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DR EMBL; AK097761; BAC05163.1; ALT_SEQ; mRNA.
DR EMBL; AC011539; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471139; EAW69092.1; -; Genomic_DNA.
DR EMBL; CH471139; EAW69094.1; -; Genomic_DNA.
DR EMBL; CH471139; EAW69093.1; -; Genomic_DNA.
DR EMBL; BC031671; AAH31671.1; ALT_INIT; mRNA.
DR CCDS; CCDS45937.1; -. [Q8N5S1-1]
DR RefSeq; NP_001308227.1; NM_001321298.1.
DR RefSeq; NP_775908.2; NM_173637.3. [Q8N5S1-1]
DR AlphaFoldDB; Q8N5S1; -.
DR SMR; Q8N5S1; -.
DR BioGRID; 129873; 89.
DR IntAct; Q8N5S1; 63.
DR STRING; 9606.ENSP00000322649; -.
DR TCDB; 2.A.29.23.6; the mitochondrial carrier (mc) family.
DR iPTMnet; Q8N5S1; -.
DR PhosphoSitePlus; Q8N5S1; -.
DR BioMuta; SLC25A41; -.
DR DMDM; 172046142; -.
DR MassIVE; Q8N5S1; -.
DR MaxQB; Q8N5S1; -.
DR PaxDb; Q8N5S1; -.
DR PeptideAtlas; Q8N5S1; -.
DR PRIDE; Q8N5S1; -.
DR Antibodypedia; 49970; 21 antibodies from 10 providers.
DR DNASU; 284427; -.
DR Ensembl; ENST00000321510.7; ENSP00000322649.5; ENSG00000181240.14. [Q8N5S1-1]
DR Ensembl; ENST00000458275.6; ENSP00000405411.1; ENSG00000181240.14. [Q8N5S1-2]
DR Ensembl; ENST00000597558.5; ENSP00000471238.1; ENSG00000181240.14. [Q8N5S1-1]
DR GeneID; 284427; -.
DR KEGG; hsa:284427; -.
DR MANE-Select; ENST00000321510.7; ENSP00000322649.5; NM_173637.4; NP_775908.2.
DR UCSC; uc010dus.4; human. [Q8N5S1-1]
DR CTD; 284427; -.
DR DisGeNET; 284427; -.
DR GeneCards; SLC25A41; -.
DR HGNC; HGNC:28533; SLC25A41.
DR HPA; ENSG00000181240; Group enriched (brain, choroid plexus, testis).
DR MIM; 610822; gene.
DR neXtProt; NX_Q8N5S1; -.
DR OpenTargets; ENSG00000181240; -.
DR PharmGKB; PA162403684; -.
DR VEuPathDB; HostDB:ENSG00000181240; -.
DR eggNOG; KOG0036; Eukaryota.
DR GeneTree; ENSGT00940000162419; -.
DR HOGENOM; CLU_015166_10_2_1; -.
DR InParanoid; Q8N5S1; -.
DR OMA; VHESPPF; -.
DR OrthoDB; 442523at2759; -.
DR PhylomeDB; Q8N5S1; -.
DR TreeFam; TF313492; -.
DR PathwayCommons; Q8N5S1; -.
DR SignaLink; Q8N5S1; -.
DR BioGRID-ORCS; 284427; 41 hits in 1079 CRISPR screens.
DR ChiTaRS; SLC25A41; human.
DR GenomeRNAi; 284427; -.
DR Pharos; Q8N5S1; Tdark.
DR PRO; PR:Q8N5S1; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q8N5S1; protein.
DR Bgee; ENSG00000181240; Expressed in cerebellar hemisphere and 87 other tissues.
DR Genevisible; Q8N5S1; 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; ISS:UniProtKB.
DR GO; GO:0015217; F:ADP transmembrane transporter activity; ISS:UniProtKB.
DR GO; GO:0005347; F:ATP transmembrane transporter activity; ISS:UniProtKB.
DR GO; GO:0015866; P:ADP transport; ISS:UniProtKB.
DR GO; GO:0015867; P:ATP transport; ISS:UniProtKB.
DR GO; GO:0140021; P:mitochondrial ADP transmembrane transport; ISS:UniProtKB.
DR GO; GO:1990544; P:mitochondrial ATP transmembrane transport; ISS: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 2: Evidence at transcript level;
KW Alternative splicing; Membrane; Mitochondrion;
KW Mitochondrion inner membrane; Reference proteome; Repeat; Transmembrane;
KW Transmembrane helix; Transport.
FT CHAIN 1..370
FT /note="Mitochondrial carrier protein SCaMC-3L"
FT /id="PRO_0000319990"
FT TRANSMEM 96..113
FT /note="Helical; Name=1"
FT /evidence="ECO:0000255"
FT TRANSMEM 151..170
FT /note="Helical; Name=2"
FT /evidence="ECO:0000255"
FT TRANSMEM 194..207
FT /note="Helical; Name=3"
FT /evidence="ECO:0000255"
FT TRANSMEM 245..263
FT /note="Helical; Name=4"
FT /evidence="ECO:0000255"
FT TRANSMEM 282..306
FT /note="Helical; Name=5"
FT /evidence="ECO:0000255"
FT TRANSMEM 342..361
FT /note="Helical; Name=6"
FT /evidence="ECO:0000255"
FT REPEAT 90..176
FT /note="Solcar 1"
FT /evidence="ECO:0000255"
FT REPEAT 184..269
FT /note="Solcar 2"
FT /evidence="ECO:0000255"
FT REPEAT 280..367
FT /note="Solcar 3"
FT /evidence="ECO:0000255"
FT VAR_SEQ 121..242
FT /note="QVYSSKTNFTNLLGGLQSMVQEGGFRSLWRGNGINVLKIAPEYAIKFSVFEQ
FT CKNYFCGIQGSPPFQERLLAGSLAVAISQTLINPMEVLKTRLTLRRTGQYKGLLDCARQ
FT ILQREGTRALY -> QLLGRLRQENRLNLGGGGCSEPRSPDRTPAWATESTPPRRTSPT
FT CWGGYRAWSRRAASAPCGGATASTCSRLLLSMPSSSPYSSSARITSVEYKGPRPSRSVS
FT LLAPWLWPSPRPSSTPWRC (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_052690"
FT VAR_SEQ 243..370
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_035524"
FT VARIANT 144
FT /note="G -> S (in dbSNP:rs34488963)"
FT /id="VAR_050132"
FT VARIANT 258
FT /note="T -> S (in dbSNP:rs11883242)"
FT /id="VAR_050133"
SQ SEQUENCE 370 AA; 40795 MW; 818C9FC7CD5F6041 CRC64;
MGAQPGEPQN TCSRIQTLFR RVKTLLIKAP PPPQPPPPPP SWNPGCTHVY GYAFGHMHDN
NLEHLPSQQV LDTGEQLMVP VEVLEVDNKE ALWKFLLSGA MAGAVSRTGT APLDRAKVYM
QVYSSKTNFT NLLGGLQSMV QEGGFRSLWR GNGINVLKIA PEYAIKFSVF EQCKNYFCGI
QGSPPFQERL LAGSLAVAIS QTLINPMEVL KTRLTLRRTG QYKGLLDCAR QILQREGTRA
LYRGYLPNML GIIPYACTDL AVYEMLQCFW VKSGRDMGDP SGLVSLSSVT LSTTCGQMAS
YPLTLVRTRM QAQDTVEGSN PTMRGVLQRI LAQQGWLGLY RGMTPTLLKV LPAGGISYVV
YEAMKKTLGI
