T126A_MOUSE
ID T126A_MOUSE Reviewed; 196 AA.
AC Q9D8Y1;
DT 09-JAN-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 117.
DE RecName: Full=Transmembrane protein 126A;
GN Name=Tmem126a;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=C57BL/6J; TISSUE=Pancreas;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=FVB/N; TISSUE=Mammary tumor;
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 TISSUE SPECIFICITY.
RX PubMed=19327736; DOI=10.1016/j.ajhg.2009.03.003;
RA Hanein S., Perrault I., Roche O., Gerber S., Khadom N., Rio M.,
RA Boddaert N., Jean-Pierre M., Brahimi N., Serre V., Chretien D., Delphin N.,
RA Fares-Taie L., Lachheb S., Rotig A., Meire F., Munnich A., Dufier J.L.,
RA Kaplan J., Rozet J.M.;
RT "TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-
RT recessive nonsyndromic optic atrophy.";
RL Am. J. Hum. Genet. 84:493-498(2009).
RN [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Brown adipose tissue, Kidney, Liver, and Pancreas;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250};
CC Multi-pass membrane protein {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: In the retina, significant levels of expression are
CC detected in the ganglion cell layer, the optic nerve head, the outer
CC plexiform layer, and in the outer ellipsoide length of photoreceptor
CC inner segments. {ECO:0000269|PubMed:19327736}.
CC -!- SIMILARITY: Belongs to the TMEM126 family. {ECO:0000305}.
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DR EMBL; AK007559; BAB25107.1; -; mRNA.
DR EMBL; BC023171; AAH23171.1; -; mRNA.
DR CCDS; CCDS21447.1; -.
DR RefSeq; NP_079736.1; NM_025460.2.
DR AlphaFoldDB; Q9D8Y1; -.
DR BioGRID; 211344; 3.
DR STRING; 10090.ENSMUSP00000032844; -.
DR iPTMnet; Q9D8Y1; -.
DR PhosphoSitePlus; Q9D8Y1; -.
DR SwissPalm; Q9D8Y1; -.
DR EPD; Q9D8Y1; -.
DR jPOST; Q9D8Y1; -.
DR MaxQB; Q9D8Y1; -.
DR PaxDb; Q9D8Y1; -.
DR PeptideAtlas; Q9D8Y1; -.
DR PRIDE; Q9D8Y1; -.
DR ProteomicsDB; 253455; -.
DR TopDownProteomics; Q9D8Y1; -.
DR Antibodypedia; 53167; 18 antibodies from 12 providers.
DR DNASU; 66271; -.
DR Ensembl; ENSMUST00000032844; ENSMUSP00000032844; ENSMUSG00000030615.
DR GeneID; 66271; -.
DR KEGG; mmu:66271; -.
DR UCSC; uc009ihn.1; mouse.
DR CTD; 84233; -.
DR MGI; MGI:1913521; Tmem126a.
DR VEuPathDB; HostDB:ENSMUSG00000030615; -.
DR eggNOG; ENOG502RYF0; Eukaryota.
DR GeneTree; ENSGT00520000055616; -.
DR HOGENOM; CLU_105475_1_0_1; -.
DR InParanoid; Q9D8Y1; -.
DR OMA; KMLFPIM; -.
DR OrthoDB; 1250876at2759; -.
DR PhylomeDB; Q9D8Y1; -.
DR TreeFam; TF327069; -.
DR BioGRID-ORCS; 66271; 0 hits in 71 CRISPR screens.
DR ChiTaRS; Tmem126a; mouse.
DR PRO; PR:Q9D8Y1; -.
DR Proteomes; UP000000589; Chromosome 7.
DR RNAct; Q9D8Y1; protein.
DR Bgee; ENSMUSG00000030615; Expressed in intercostal muscle and 262 other tissues.
DR ExpressionAtlas; Q9D8Y1; baseline and differential.
DR Genevisible; Q9D8Y1; MM.
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; HDA:MGI.
DR GO; GO:0032981; P:mitochondrial respiratory chain complex I assembly; IBA:GO_Central.
DR GO; GO:0021554; P:optic nerve development; ISO:MGI.
DR InterPro; IPR009801; TMEM126.
DR PANTHER; PTHR16296; PTHR16296; 1.
DR Pfam; PF07114; TMEM126; 1.
PE 1: Evidence at protein level;
KW Membrane; Mitochondrion; Mitochondrion inner membrane; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..196
FT /note="Transmembrane protein 126A"
FT /id="PRO_0000271000"
FT TOPO_DOM 1..34
FT /note="Mitochondrial matrix"
FT /evidence="ECO:0000255"
FT TRANSMEM 35..55
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 56..57
FT /note="Mitochondrial intermembrane"
FT /evidence="ECO:0000255"
FT TRANSMEM 58..78
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 79..106
FT /note="Mitochondrial matrix"
FT /evidence="ECO:0000255"
FT TRANSMEM 107..127
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 128..159
FT /note="Mitochondrial intermembrane"
FT /evidence="ECO:0000255"
FT TRANSMEM 160..176
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 177..196
FT /note="Mitochondrial matrix"
FT /evidence="ECO:0000255"
SQ SEQUENCE 196 AA; 21539 MW; 994DF5E2251C5FEB CRC64;
MESHKPSTSK DDLILNIISR KIKQLPESDR NLLEYGSAYI GLNAAFGGLI ANSLFRRILN
VTQARLASSL PMAVIPFLTA NLSYQSLVSL PLSTGDLNCE TCTTTRGALV GLVMGGLYPI
LLAIPVNGGL AARYESSPLP QRGNIFNYWI TVSKPVFRKM LFPTLLQTVF ASYLGSRQYK
LLIKALQLPE PDLEIH
