S2544_HUMAN
ID S2544_HUMAN Reviewed; 314 AA.
AC Q96H78; O75034;
DT 17-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 157.
DE RecName: Full=Solute carrier family 25 member 44;
GN Name=SLC25A44 {ECO:0000303|PubMed:31435015, ECO:0000312|HGNC:HGNC:29036};
GN Synonyms=KIAA0446;
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].
RC TISSUE=Brain;
RX PubMed=9455484; DOI=10.1093/dnares/4.5.345;
RA Seki N., Ohira M., Nagase T., Ishikawa K., Miyajima N., Nakajima D.,
RA Nomura N., Ohara O.;
RT "Characterization of cDNA clones in size-fractionated cDNA libraries from
RT human brain.";
RL DNA Res. 4:345-349(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=16303743; DOI=10.1093/dnares/12.2.117;
RA Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J.,
RA Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S.,
RA Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.,
RA Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S.,
RA Isogai T.;
RT "Signal sequence and keyword trap in silico for selection of full-length
RT human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA
RT libraries.";
RL DNA Res. 12:117-126(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain, and Skin;
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]
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 [6]
RP FUNCTION, AND INDUCTION BY COLD.
RX PubMed=31435015; DOI=10.1038/s41586-019-1503-x;
RA Yoneshiro T., Wang Q., Tajima K., Matsushita M., Maki H., Igarashi K.,
RA Dai Z., White P.J., McGarrah R.W., Ilkayeva O.R., Deleye Y., Oguri Y.,
RA Kuroda M., Ikeda K., Li H., Ueno A., Ohishi M., Ishikawa T., Kim K.,
RA Chen Y., Sponton C.H., Pradhan R.N., Majd H., Greiner V.J., Yoneshiro M.,
RA Brown Z., Chondronikola M., Takahashi H., Goto T., Kawada T., Sidossis L.,
RA Szoka F.C., McManus M.T., Saito M., Soga T., Kajimura S.;
RT "BCAA catabolism in brown fat controls energy homeostasis through
RT SLC25A44.";
RL Nature 572:614-619(2019).
CC -!- FUNCTION: Mitochondrial solute transporter which transports branched-
CC chain amino acid (BCAA; valine, leucine and isoleucine) into
CC mitochondria in brown adipose tissue (BAT) (By similarity). BAT is
CC involved in BCAA catabolism and actively utilizes BCAA in the
CC mitochondria for thermogenesis (PubMed:31435015).
CC {ECO:0000250|UniProtKB:Q8BGF9, ECO:0000269|PubMed:31435015}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion membrane
CC {ECO:0000250|UniProtKB:Q8BGF9}; Multi-pass membrane protein
CC {ECO:0000255}.
CC -!- INDUCTION: Induction by cold exposure in brown adipose tissues.
CC {ECO:0000269|PubMed:31435015}.
CC -!- SIMILARITY: Belongs to the mitochondrial carrier (TC 2.A.29) family.
CC {ECO:0000255}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA32291.3; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AB007915; BAA32291.3; ALT_INIT; mRNA.
DR EMBL; AK074912; BAC11287.1; -; mRNA.
DR EMBL; AK075002; BAC11347.1; -; mRNA.
DR EMBL; AL135927; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC008843; AAH08843.1; -; mRNA.
DR EMBL; BC039854; AAH39854.1; -; mRNA.
DR CCDS; CCDS1133.1; -.
DR RefSeq; NP_001273113.1; NM_001286184.1.
DR RefSeq; NP_055470.1; NM_014655.3.
DR RefSeq; XP_006711720.1; XM_006711657.3.
DR RefSeq; XP_011508482.1; XM_011510180.1.
DR RefSeq; XP_011508483.1; XM_011510181.1.
DR RefSeq; XP_016858393.1; XM_017002904.1.
DR RefSeq; XP_016858394.1; XM_017002905.1.
DR RefSeq; XP_016858395.1; XM_017002906.1.
DR AlphaFoldDB; Q96H78; -.
DR BioGRID; 115028; 10.
DR IntAct; Q96H78; 3.
DR STRING; 9606.ENSP00000407560; -.
DR TCDB; 2.A.29.14.7; the mitochondrial carrier (mc) family.
DR iPTMnet; Q96H78; -.
DR PhosphoSitePlus; Q96H78; -.
DR BioMuta; SLC25A44; -.
DR DMDM; 74751902; -.
DR EPD; Q96H78; -.
DR jPOST; Q96H78; -.
DR MassIVE; Q96H78; -.
DR MaxQB; Q96H78; -.
DR PaxDb; Q96H78; -.
DR PeptideAtlas; Q96H78; -.
DR PRIDE; Q96H78; -.
DR ProteomicsDB; 76709; -.
DR Antibodypedia; 47042; 26 antibodies from 11 providers.
DR DNASU; 9673; -.
DR Ensembl; ENST00000359511.5; ENSP00000352497.4; ENSG00000160785.14.
DR GeneID; 9673; -.
DR KEGG; hsa:9673; -.
DR MANE-Select; ENST00000359511.5; ENSP00000352497.4; NM_014655.4; NP_055470.1.
DR UCSC; uc001fnp.5; human.
DR CTD; 9673; -.
DR DisGeNET; 9673; -.
DR GeneCards; SLC25A44; -.
DR HGNC; HGNC:29036; SLC25A44.
DR HPA; ENSG00000160785; Low tissue specificity.
DR MIM; 610824; gene.
DR neXtProt; NX_Q96H78; -.
DR OpenTargets; ENSG00000160785; -.
DR PharmGKB; PA162403705; -.
DR VEuPathDB; HostDB:ENSG00000160785; -.
DR eggNOG; KOG0765; Eukaryota.
DR GeneTree; ENSGT00940000155399; -.
DR HOGENOM; CLU_015166_3_3_1; -.
DR InParanoid; Q96H78; -.
DR OMA; ELWHEEK; -.
DR OrthoDB; 1102784at2759; -.
DR PhylomeDB; Q96H78; -.
DR TreeFam; TF354268; -.
DR PathwayCommons; Q96H78; -.
DR Reactome; R-HSA-70895; Branched-chain amino acid catabolism.
DR SignaLink; Q96H78; -.
DR BioGRID-ORCS; 9673; 11 hits in 1079 CRISPR screens.
DR ChiTaRS; SLC25A44; human.
DR GenomeRNAi; 9673; -.
DR Pharos; Q96H78; Tdark.
DR PRO; PR:Q96H78; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q96H78; protein.
DR Bgee; ENSG00000160785; Expressed in prefrontal cortex and 170 other tissues.
DR ExpressionAtlas; Q96H78; baseline and differential.
DR Genevisible; Q96H78; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0031966; C:mitochondrial membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005739; C:mitochondrion; ISS:UniProtKB.
DR GO; GO:0015658; F:branched-chain amino acid transmembrane transporter activity; ISS:UniProtKB.
DR GO; GO:0009083; P:branched-chain amino acid catabolic process; IMP:UniProtKB.
DR GO; GO:0015803; P:branched-chain amino acid transport; ISS:UniProtKB.
DR GO; GO:0120161; P:regulation of cold-induced thermogenesis; ISS:UniProtKB.
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 InterPro; IPR042164; SLC25A44.
DR PANTHER; PTHR46314; PTHR46314; 1.
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 Amino-acid transport; Membrane; Mitochondrion; Reference proteome; Repeat;
KW Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1..314
FT /note="Solute carrier family 25 member 44"
FT /id="PRO_0000253064"
FT TRANSMEM 20..42
FT /note="Helical; Name=1"
FT /evidence="ECO:0000255"
FT TRANSMEM 71..90
FT /note="Helical; Name=2"
FT /evidence="ECO:0000255"
FT TRANSMEM 113..133
FT /note="Helical; Name=3"
FT /evidence="ECO:0000255"
FT TRANSMEM 185..201
FT /note="Helical; Name=4"
FT /evidence="ECO:0000255"
FT TRANSMEM 222..239
FT /note="Helical; Name=5"
FT /evidence="ECO:0000255"
FT TRANSMEM 278..296
FT /note="Helical; Name=6"
FT /evidence="ECO:0000255"
FT REPEAT 18..100
FT /note="Solcar 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00282"
FT REPEAT 107..210
FT /note="Solcar 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00282"
FT REPEAT 220..302
FT /note="Solcar 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00282"
FT VARIANT 52
FT /note="S -> I (in dbSNP:rs11576750)"
FT /id="VAR_050134"
FT CONFLICT 208
FT /note="A -> AAIVFPWIP (in Ref. 1; BAA32291)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 314 AA; 35392 MW; 978AE43CBDF0FBDF CRC64;
MEDKRNIQII EWEHLDKKKF YVFGVAMTMM IRVSVYPFTL IRTRLQVQKG KSLYHGTFDA
FIKILRADGI TGLYRGFLVN TFTLISGQCY VTTYELTRKF VADYSQSNTV KSLVAGGSAS
LVAQSITVPI DVVSQHLMMQ RKGEKMGRFQ VRGNPEGQGV VAFGQTKDII RQILQADGLR
GFYRGYVASL LTYIPNSAVW WPFYHFYAEQ LSYLCPKECP HIVFQAVSGP LAAATASILT
NPMDVIRTRV QVEGKNSIIL TFRQLMAEEG PWGLMKGLSA RIISATPSTI VIVVGYESLK
KLSLRPELVD SRHW
