S2547_HUMAN
ID S2547_HUMAN Reviewed; 308 AA.
AC Q6Q0C1; B2RP39; Q68CL2; Q6PZD8; Q86U14;
DT 26-JUN-2007, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=Solute carrier family 25 member 47;
DE AltName: Full=Hepatocellular carcinoma down-regulated mitochondrial carrier protein;
GN Name=SLC25A47; Synonyms=C14orf68, HDMCP; ORFNames=HMFN1655;
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] (ISOFORMS 1 AND 2), FUNCTION, SUBCELLULAR
RP LOCATION, TISSUE SPECIFICITY, AND INDUCTION.
RX PubMed=15322095; DOI=10.1074/jbc.m403683200;
RA Tan M.G.K., Ooi L.L.P.J., Aw S.E., Hui K.M.;
RT "Cloning and identification of hepatocellular carcinoma down-regulated
RT mitochondrial carrier protein, a novel liver-specific uncoupling protein.";
RL J. Biol. Chem. 279:45235-45244(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RX PubMed=15221005; DOI=10.1038/sj.onc.1207782;
RA Yamada S., Ohira M., Horie H., Ando K., Takayasu H., Suzuki Y., Sugano S.,
RA Hirata T., Goto T., Matsunaga T., Hiyama E., Hayashi Y., Ando H., Suita S.,
RA Kaneko M., Sasaki F., Hashizume K., Ohnuma N., Nakagawara A.;
RT "Expression profiling and differential screening between hepatoblastomas
RT and the corresponding normal livers: identification of high expression of
RT the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas.";
RL Oncogene 23:5901-5911(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Liver;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Fetal liver;
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 [5]
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 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).
CC -!- FUNCTION: Uncoupling protein which may catalyze the physiological
CC 'proton leak' in liver. Overexpression induces the dissipation of
CC mitochondrial membrane potential. {ECO:0000269|PubMed:15322095}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane
CC {ECO:0000269|PubMed:15322095}; Multi-pass membrane protein
CC {ECO:0000269|PubMed:15322095}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6Q0C1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6Q0C1-2; Sequence=VSP_026233, VSP_026234;
CC -!- TISSUE SPECIFICITY: Specifically expressed in liver.
CC {ECO:0000269|PubMed:15322095}.
CC -!- INDUCTION: Down-regulated in hepatocarcinoma.
CC {ECO:0000269|PubMed:15322095}.
CC -!- SIMILARITY: Belongs to the mitochondrial carrier (TC 2.A.29) family.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAD38636.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305};
CC Sequence=CAD62588.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AY569438; AAS80155.1; -; mRNA.
DR EMBL; AY570298; AAS77211.1; -; mRNA.
DR EMBL; AB073385; BAD38636.1; ALT_SEQ; mRNA.
DR EMBL; AK092001; BAG52460.1; -; mRNA.
DR EMBL; BX248260; CAD62588.1; ALT_INIT; mRNA.
DR EMBL; CH471061; EAW81697.1; -; Genomic_DNA.
DR EMBL; BC137253; AAI37254.1; -; mRNA.
DR EMBL; BC137254; AAI37255.1; -; mRNA.
DR CCDS; CCDS9959.1; -. [Q6Q0C1-1]
DR RefSeq; NP_997000.2; NM_207117.2. [Q6Q0C1-1]
DR AlphaFoldDB; Q6Q0C1; -.
DR BioGRID; 129619; 35.
DR IntAct; Q6Q0C1; 2.
DR STRING; 9606.ENSP00000354886; -.
DR TCDB; 2.A.29.8.10; the mitochondrial carrier (mc) family.
DR iPTMnet; Q6Q0C1; -.
DR PhosphoSitePlus; Q6Q0C1; -.
DR BioMuta; SLC25A47; -.
DR DMDM; 74749277; -.
DR MassIVE; Q6Q0C1; -.
DR PaxDb; Q6Q0C1; -.
DR PeptideAtlas; Q6Q0C1; -.
DR PRIDE; Q6Q0C1; -.
DR Antibodypedia; 27517; 93 antibodies from 23 providers.
DR DNASU; 283600; -.
DR Ensembl; ENST00000361529.5; ENSP00000354886.3; ENSG00000140107.12. [Q6Q0C1-1]
DR GeneID; 283600; -.
DR KEGG; hsa:283600; -.
DR MANE-Select; ENST00000361529.5; ENSP00000354886.3; NM_207117.4; NP_997000.2.
DR UCSC; uc001yhc.4; human. [Q6Q0C1-1]
DR CTD; 283600; -.
DR DisGeNET; 283600; -.
DR GeneCards; SLC25A47; -.
DR HGNC; HGNC:20115; SLC25A47.
DR HPA; ENSG00000140107; Tissue enriched (liver).
DR MIM; 609911; gene.
DR neXtProt; NX_Q6Q0C1; -.
DR OpenTargets; ENSG00000140107; -.
DR PharmGKB; PA165479287; -.
DR VEuPathDB; HostDB:ENSG00000140107; -.
DR eggNOG; KOG0762; Eukaryota.
DR GeneTree; ENSGT00940000159694; -.
DR HOGENOM; CLU_015166_16_1_1; -.
DR InParanoid; Q6Q0C1; -.
DR OMA; HICRLRY; -.
DR PhylomeDB; Q6Q0C1; -.
DR TreeFam; TF351739; -.
DR PathwayCommons; Q6Q0C1; -.
DR SignaLink; Q6Q0C1; -.
DR BioGRID-ORCS; 283600; 10 hits in 1068 CRISPR screens.
DR GenomeRNAi; 283600; -.
DR Pharos; Q6Q0C1; Tbio.
DR PRO; PR:Q6Q0C1; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q6Q0C1; protein.
DR Bgee; ENSG00000140107; Expressed in right lobe of liver and 48 other tissues.
DR ExpressionAtlas; Q6Q0C1; baseline and differential.
DR Genevisible; Q6Q0C1; 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; -; 2.
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..308
FT /note="Solute carrier family 25 member 47"
FT /id="PRO_0000291779"
FT TRANSMEM 3..23
FT /note="Helical; Name=1"
FT /evidence="ECO:0000255"
FT TRANSMEM 49..69
FT /note="Helical; Name=2"
FT /evidence="ECO:0000255"
FT TRANSMEM 98..116
FT /note="Helical; Name=3"
FT /evidence="ECO:0000255"
FT TRANSMEM 190..210
FT /note="Helical; Name=4"
FT /evidence="ECO:0000255"
FT TRANSMEM 217..237
FT /note="Helical; Name=5"
FT /evidence="ECO:0000255"
FT TRANSMEM 273..293
FT /note="Helical; Name=6"
FT /evidence="ECO:0000255"
FT REPEAT 1..80
FT /note="Solcar 1"
FT REPEAT 93..206
FT /note="Solcar 2"
FT REPEAT 215..302
FT /note="Solcar 3"
FT VAR_SEQ 25..30
FT /note="VRIQTE -> GLLALP (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15221005,
FT ECO:0000303|PubMed:15322095"
FT /id="VSP_026233"
FT VAR_SEQ 31..308
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15221005,
FT ECO:0000303|PubMed:15322095"
FT /id="VSP_026234"
SQ SEQUENCE 308 AA; 33435 MW; 995BC7342F99AFCC CRC64;
MDFVAGAIGG VCGVAVGYPL DTVKVRIQTE PKYTGIWHCV RDTYHRERVW GFYRGLSLPV
CTVSLVSSVS FGTYRHCLAH ICRLRYGNPD AKPTKADITL SGCASGLVRV FLTSPTEVAK
VRLQTQTQAQ KQQRRLSASG PLAVPPMCPV PPACPEPKYR GPLHCLATVA REEGLCGLYK
GSSALVLRDG HSFATYFLSY AVLCEWLSPA GHSRPDVPGV LVAGGCAGVL AWAVATPMDV
IKSRLQADGQ GQRRYRGLLH CMVTSVREEG PRVLFKGLVL NCCRAFPVNM VVFVAYEAVL
RLARGLLT
