T126A_HUMAN
ID T126A_HUMAN Reviewed; 195 AA.
AC Q9H061; B2R570; E9PI16;
DT 09-JAN-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 144.
DE RecName: Full=Transmembrane protein 126A;
GN Name=TMEM126A;
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 1).
RC TISSUE=Uterus;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Prostate;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [4]
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Ovary;
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 [6]
RP SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND INVOLVEMENT IN OPA7.
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 [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [8]
RP SUBCELLULAR LOCATION, TOPOLOGY, AND TISSUE SPECIFICITY.
RX PubMed=23500070; DOI=10.1016/j.bbagen.2013.02.025;
RA Hanein S., Garcia M., Fares-Taie L., Serre V., De Keyzer Y., Delaveau T.,
RA Perrault I., Delphin N., Gerber S., Schmitt A., Masse J.M., Munnich A.,
RA Kaplan J., Devaux F., Rozet J.M.;
RT "TMEM126A is a mitochondrial located mRNA (MLR) protein of the
RT mitochondrial inner membrane.";
RL Biochim. Biophys. Acta 1830:3719-3733(2013).
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane
CC {ECO:0000269|PubMed:19327736, ECO:0000269|PubMed:23500070}; Multi-pass
CC membrane protein {ECO:0000269|PubMed:19327736,
CC ECO:0000269|PubMed:23500070}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9H061-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9H061-2; Sequence=VSP_046927;
CC -!- TISSUE SPECIFICITY: Strongly expressed in brain, cerebellum, skeletal
CC muscle, testis. High expression also found in fetal brain, fetal
CC retinal pigmentary epithelium, and fetal retina. Highly expressed in
CC retinal ganglion cells. {ECO:0000269|PubMed:19327736,
CC ECO:0000269|PubMed:23500070}.
CC -!- DISEASE: Optic atrophy 7 with or without auditory neuropathy (OPA7)
CC [MIM:612989]: A hereditary condition that features progressive visual
CC loss in association with optic atrophy. Atrophy of the optic disk
CC indicates a deficiency in the number of nerve fibers which arise in the
CC retina and converge to form the optic disk, optic nerve, optic chiasm
CC and optic tracts. OPA7 is an autosomal recessive juvenile-onset optic
CC atrophy characterized by severe bilateral deficiency in visual acuity,
CC optic disk pallor, and central scotoma. Some patients manifest hearing
CC loss. {ECO:0000269|PubMed:19327736}. Note=The disease is caused by
CC variants affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the TMEM126 family. {ECO:0000305}.
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DR EMBL; AL136941; CAB66875.1; -; mRNA.
DR EMBL; AK312081; BAG35017.1; -; mRNA.
DR EMBL; AP000642; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471076; EAW75102.1; -; Genomic_DNA.
DR EMBL; BC007875; AAH07875.1; -; mRNA.
DR CCDS; CCDS58165.1; -. [Q9H061-2]
DR CCDS; CCDS8268.1; -. [Q9H061-1]
DR RefSeq; NP_001231664.1; NM_001244735.1. [Q9H061-2]
DR RefSeq; NP_115649.1; NM_032273.3. [Q9H061-1]
DR AlphaFoldDB; Q9H061; -.
DR BioGRID; 123966; 158.
DR IntAct; Q9H061; 25.
DR MINT; Q9H061; -.
DR STRING; 9606.ENSP00000306887; -.
DR TCDB; 9.B.317.1.2; the complex i integral membrane chaperone, tmem126 (tmem126) family.
DR GlyGen; Q9H061; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9H061; -.
DR PhosphoSitePlus; Q9H061; -.
DR SwissPalm; Q9H061; -.
DR BioMuta; TMEM126A; -.
DR DMDM; 74733515; -.
DR EPD; Q9H061; -.
DR jPOST; Q9H061; -.
DR MassIVE; Q9H061; -.
DR MaxQB; Q9H061; -.
DR PaxDb; Q9H061; -.
DR PeptideAtlas; Q9H061; -.
DR PRIDE; Q9H061; -.
DR ProteomicsDB; 20659; -.
DR ProteomicsDB; 80205; -. [Q9H061-1]
DR TopDownProteomics; Q9H061-1; -. [Q9H061-1]
DR Antibodypedia; 53167; 18 antibodies from 12 providers.
DR DNASU; 84233; -.
DR Ensembl; ENST00000304511.7; ENSP00000306887.2; ENSG00000171202.7. [Q9H061-1]
DR Ensembl; ENST00000528105.5; ENSP00000436590.1; ENSG00000171202.7. [Q9H061-2]
DR Ensembl; ENST00000532180.1; ENSP00000434357.1; ENSG00000171202.7. [Q9H061-2]
DR GeneID; 84233; -.
DR KEGG; hsa:84233; -.
DR MANE-Select; ENST00000304511.7; ENSP00000306887.2; NM_032273.4; NP_115649.1.
DR UCSC; uc001par.4; human. [Q9H061-1]
DR CTD; 84233; -.
DR DisGeNET; 84233; -.
DR GeneCards; TMEM126A; -.
DR HGNC; HGNC:25382; TMEM126A.
DR HPA; ENSG00000171202; Low tissue specificity.
DR MalaCards; TMEM126A; -.
DR MIM; 612988; gene.
DR MIM; 612989; phenotype.
DR neXtProt; NX_Q9H061; -.
DR OpenTargets; ENSG00000171202; -.
DR Orphanet; 227976; Autosomal recessive optic atrophy, OPA7 type.
DR PharmGKB; PA143485645; -.
DR VEuPathDB; HostDB:ENSG00000171202; -.
DR eggNOG; ENOG502RYF0; Eukaryota.
DR GeneTree; ENSGT00520000055616; -.
DR HOGENOM; CLU_1991866_0_0_1; -.
DR InParanoid; Q9H061; -.
DR OMA; KMLFPIM; -.
DR OrthoDB; 1250876at2759; -.
DR PhylomeDB; Q9H061; -.
DR TreeFam; TF327069; -.
DR PathwayCommons; Q9H061; -.
DR SignaLink; Q9H061; -.
DR BioGRID-ORCS; 84233; 14 hits in 1086 CRISPR screens.
DR ChiTaRS; TMEM126A; human.
DR GeneWiki; TMEM126A; -.
DR GenomeRNAi; 84233; -.
DR Pharos; Q9H061; Tbio.
DR PRO; PR:Q9H061; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q9H061; protein.
DR Bgee; ENSG00000171202; Expressed in left ventricle myocardium and 179 other tissues.
DR ExpressionAtlas; Q9H061; baseline and differential.
DR Genevisible; Q9H061; 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; IDA:UniProtKB.
DR GO; GO:0032981; P:mitochondrial respiratory chain complex I assembly; IBA:GO_Central.
DR GO; GO:0021554; P:optic nerve development; IMP:BHF-UCL.
DR InterPro; IPR009801; TMEM126.
DR PANTHER; PTHR16296; PTHR16296; 1.
DR Pfam; PF07114; TMEM126; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Membrane; Mitochondrion;
KW Mitochondrion inner membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..195
FT /note="Transmembrane protein 126A"
FT /id="PRO_0000270999"
FT TOPO_DOM 1..33
FT /note="Mitochondrial matrix"
FT /evidence="ECO:0000255"
FT TRANSMEM 34..54
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 55..56
FT /note="Mitochondrial intermembrane"
FT /evidence="ECO:0000255"
FT TRANSMEM 57..77
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 78..110
FT /note="Mitochondrial matrix"
FT /evidence="ECO:0000255"
FT TRANSMEM 111..131
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 132..158
FT /note="Mitochondrial intermembrane"
FT /evidence="ECO:0000255"
FT TRANSMEM 159..175
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 176..195
FT /note="Mitochondrial matrix"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..70
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_046927"
FT VARIANT 64
FT /note="R -> H (in dbSNP:rs11556797)"
FT /id="VAR_053817"
SQ SEQUENCE 195 AA; 21527 MW; 23940169ACA0D698 CRC64;
MENHKSNNKE NITIVDISRK INQLPEAERN LLENGSVYVG LNAALCGLIA NSLFRRILNV
TKARIAAGLP MAGIPFLTTD LTYRCFVSFP LNTGDLDCET CTITRSGLTG LVIGGLYPVF
LAIPVNGGLA ARYQSALLPH KGNILSYWIR TSKPVFRKML FPILLQTMFS AYLGSEQYKL
LIKALQLSEP GKEIH
