S2548_HUMAN
ID S2548_HUMAN Reviewed; 311 AA.
AC Q6ZT89; Q8TAV9;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 18-MAR-2008, sequence version 2.
DT 03-AUG-2022, entry version 137.
DE RecName: Full=Solute carrier family 25 member 48;
GN Name=SLC25A48;
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 2).
RC TISSUE=Brain cortex;
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=15372022; DOI=10.1038/nature02919;
RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT "The DNA sequence and comparative analysis of human chromosome 5.";
RL Nature 431:268-274(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]
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).
CC -!- INTERACTION:
CC Q6ZT89; P60409: KRTAP10-7; NbExp=3; IntAct=EBI-10255185, EBI-10172290;
CC Q6ZT89; Q9UJV3-2: MID2; NbExp=3; IntAct=EBI-10255185, EBI-10172526;
CC Q6ZT89; Q8ND90: PNMA1; NbExp=3; IntAct=EBI-10255185, EBI-302345;
CC Q6ZT89; Q13077: TRAF1; NbExp=3; IntAct=EBI-10255185, EBI-359224;
CC Q6ZT89; Q8TF42: UBASH3B; NbExp=3; IntAct=EBI-10255185, EBI-1380492;
CC Q6ZT89-3; Q86V38: ATN1; NbExp=3; IntAct=EBI-12065614, EBI-11954292;
CC Q6ZT89-3; Q2TAC2-2: CCDC57; NbExp=3; IntAct=EBI-12065614, EBI-10961624;
CC Q6ZT89-3; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-12065614, EBI-3867333;
CC Q6ZT89-3; O95967: EFEMP2; NbExp=3; IntAct=EBI-12065614, EBI-743414;
CC Q6ZT89-3; Q96NT3-2: GUCD1; NbExp=3; IntAct=EBI-12065614, EBI-11978177;
CC Q6ZT89-3; Q9UJV3-2: MID2; NbExp=3; IntAct=EBI-12065614, EBI-10172526;
CC Q6ZT89-3; Q5JR59-3: MTUS2; NbExp=3; IntAct=EBI-12065614, EBI-11522433;
CC Q6ZT89-3; Q93062-3: RBPMS; NbExp=3; IntAct=EBI-12065614, EBI-740343;
CC Q6ZT89-3; Q63HR2: TNS2; NbExp=3; IntAct=EBI-12065614, EBI-949753;
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250};
CC Multi-pass membrane protein {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q6ZT89-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6ZT89-2; Sequence=VSP_032399;
CC Name=3;
CC IsoId=Q6ZT89-3; Sequence=VSP_032397, VSP_032398;
CC -!- SIMILARITY: Belongs to the mitochondrial carrier (TC 2.A.29) family.
CC {ECO:0000305}.
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DR EMBL; AK126812; BAC86705.1; -; mRNA.
DR EMBL; AC011427; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471062; EAW62205.1; -; Genomic_DNA.
DR EMBL; BC025747; AAH25747.1; -; mRNA.
DR CCDS; CCDS43366.2; -. [Q6ZT89-3]
DR RefSeq; NP_660325.4; NM_145282.4. [Q6ZT89-3]
DR RefSeq; XP_006714609.1; XM_006714546.1. [Q6ZT89-1]
DR RefSeq; XP_016864575.1; XM_017009086.1.
DR RefSeq; XP_016864576.1; XM_017009087.1. [Q6ZT89-1]
DR RefSeq; XP_016864577.1; XM_017009088.1. [Q6ZT89-1]
DR AlphaFoldDB; Q6ZT89; -.
DR SMR; Q6ZT89; -.
DR BioGRID; 127489; 39.
DR IntAct; Q6ZT89; 17.
DR STRING; 9606.ENSP00000413049; -.
DR TCDB; 2.A.29.8.8; the mitochondrial carrier (mc) family.
DR iPTMnet; Q6ZT89; -.
DR PhosphoSitePlus; Q6ZT89; -.
DR BioMuta; SLC25A48; -.
DR MassIVE; Q6ZT89; -.
DR PaxDb; Q6ZT89; -.
DR PeptideAtlas; Q6ZT89; -.
DR PRIDE; Q6ZT89; -.
DR ProteomicsDB; 68263; -. [Q6ZT89-1]
DR ProteomicsDB; 68264; -. [Q6ZT89-2]
DR ProteomicsDB; 68265; -. [Q6ZT89-3]
DR Antibodypedia; 7244; 39 antibodies from 12 providers.
DR DNASU; 153328; -.
DR Ensembl; ENST00000274513.9; ENSP00000274513.5; ENSG00000145832.15. [Q6ZT89-2]
DR Ensembl; ENST00000412661.3; ENSP00000413049.2; ENSG00000145832.15. [Q6ZT89-3]
DR Ensembl; ENST00000433282.6; ENSP00000399834.3; ENSG00000145832.15. [Q6ZT89-1]
DR Ensembl; ENST00000681962.1; ENSP00000506858.1; ENSG00000145832.15. [Q6ZT89-1]
DR GeneID; 153328; -.
DR KEGG; hsa:153328; -.
DR MANE-Select; ENST00000681962.1; ENSP00000506858.1; NM_001349336.2; NP_001336265.1.
DR UCSC; uc003laz.1; human. [Q6ZT89-1]
DR CTD; 153328; -.
DR DisGeNET; 153328; -.
DR GeneCards; SLC25A48; -.
DR HGNC; HGNC:30451; SLC25A48.
DR HPA; ENSG00000145832; Tissue enhanced (brain, skeletal muscle).
DR MIM; 616150; gene.
DR neXtProt; NX_Q6ZT89; -.
DR OpenTargets; ENSG00000145832; -.
DR PharmGKB; PA165660536; -.
DR VEuPathDB; HostDB:ENSG00000145832; -.
DR eggNOG; KOG0758; Eukaryota.
DR GeneTree; ENSGT00940000159354; -.
DR HOGENOM; CLU_015166_11_2_1; -.
DR InParanoid; Q6ZT89; -.
DR OMA; YGVWFLA; -.
DR PhylomeDB; Q6ZT89; -.
DR TreeFam; TF351739; -.
DR PathwayCommons; Q6ZT89; -.
DR SignaLink; Q6ZT89; -.
DR BioGRID-ORCS; 153328; 24 hits in 1063 CRISPR screens.
DR ChiTaRS; SLC25A48; human.
DR GenomeRNAi; 153328; -.
DR Pharos; Q6ZT89; Tdark.
DR PRO; PR:Q6ZT89; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q6ZT89; protein.
DR Bgee; ENSG00000145832; Expressed in tibial nerve and 114 other tissues.
DR ExpressionAtlas; Q6ZT89; baseline and differential.
DR Genevisible; Q6ZT89; 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; IBA:GO_Central.
DR GO; GO:0022857; F:transmembrane transporter activity; IBA:GO_Central.
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; Membrane; Mitochondrion;
KW Mitochondrion inner membrane; Reference proteome; Repeat; Transmembrane;
KW Transmembrane helix; Transport.
FT CHAIN 1..311
FT /note="Solute carrier family 25 member 48"
FT /id="PRO_0000325768"
FT TRANSMEM 9..29
FT /note="Helical; Name=1"
FT /evidence="ECO:0000255"
FT TRANSMEM 61..81
FT /note="Helical; Name=2"
FT /evidence="ECO:0000255"
FT TRANSMEM 107..127
FT /note="Helical; Name=3"
FT /evidence="ECO:0000255"
FT TRANSMEM 189..209
FT /note="Helical; Name=4"
FT /evidence="ECO:0000255"
FT TRANSMEM 217..237
FT /note="Helical; Name=5"
FT /evidence="ECO:0000255"
FT TRANSMEM 277..295
FT /note="Helical; Name=6"
FT /evidence="ECO:0000255"
FT REPEAT 3..86
FT /note="Solcar 1"
FT REPEAT 101..205
FT /note="Solcar 2"
FT REPEAT 214..301
FT /note="Solcar 3"
FT VAR_SEQ 141..157
FT /note="ANLGLKSRAVAPAEQPA -> GGEHRMTTVFPGPHLCM (in isoform
FT 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_032397"
FT VAR_SEQ 158..311
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_032398"
FT VAR_SEQ 228..311
FT /note="AISWGTATPMDVVKSRLQADGVYLNKYKGVLDCISQSYQKEGLKVFFRGITV
FT NAVRGFPMSAAMFLGYELSLQAIRGDHAVTSP -> KGSSSWSRTPVQATAVGQLGNCH
FT ALLSPGGGQDTFRYSPNNSLLGTYSVPGPLPPQSHPFPMQL (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_032399"
SQ SEQUENCE 311 AA; 33440 MW; C29F5D3437D267FC CRC64;
MGSFQLEDFA AGWIGGAASV IVGHPLDTVK TRLQAGVGYG NTLSCIRVVY RRESMFGFFK
GMSFPLASIA VYNSVVFGVF SNTQRFLSQH RCGEPEASPP RTLSDLLLAS MVAGVVSVGL
GGPVDLIKIR LQMQTQPFRD ANLGLKSRAV APAEQPAYQG PVHCITTIVR NEGLAGLYRG
ASAMLLRDVP GYCLYFIPYV FLSEWITPEA CTGPSPCAVW LAGGMAGAIS WGTATPMDVV
KSRLQADGVY LNKYKGVLDC ISQSYQKEGL KVFFRGITVN AVRGFPMSAA MFLGYELSLQ
AIRGDHAVTS P
