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Q9H061 (T126A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 97. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Transmembrane protein 126A
Gene names
Name:TMEM126A
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length195 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subcellular location

Mitochondrion inner membrane; Multi-pass membrane protein Ref.6 Ref.8.

Tissue specificity

Strongly expressed in brain, cerebellum, skeletal muscle, testis. High expression also found in fetal brain, fetal retinal pigmentary epithelium, and fetal retina. Highly expressed in retinal ganglion cells. Ref.6 Ref.8

Involvement in disease

Optic atrophy 7 (OPA7) [MIM:612989]: A hereditary condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA7 is an autosomal recessive juvenile-onset optic atrophy characterized by severe bilateral deficiency in visual acuity, optic disk pallor, and central scotoma.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Sequence similarities

Belongs to the TMEM126 family.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9H061-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q9H061-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-70: Missing.
Note: Gene prediction based on EST data.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 195195Transmembrane protein 126A
PRO_0000270999

Regions

Topological domain1 – 3333Mitochondrial matrix Potential
Transmembrane34 – 5421Helical; Potential
Topological domain55 – 562Mitochondrial intermembrane Potential
Transmembrane57 – 7721Helical; Potential
Topological domain78 – 11033Mitochondrial matrix Potential
Transmembrane111 – 13121Helical; Potential
Topological domain132 – 15827Mitochondrial intermembrane Potential
Transmembrane159 – 17517Helical; Potential
Topological domain176 – 19520Mitochondrial matrix Potential

Natural variations

Alternative sequence1 – 7070Missing in isoform 2.
VSP_046927
Natural variant641R → H.
Corresponds to variant rs11556797 [ dbSNP | Ensembl ].
VAR_053817

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2001. Version 1.
Checksum: 23940169ACA0D698

FASTA19521,527
        10         20         30         40         50         60 
MENHKSNNKE NITIVDISRK INQLPEAERN LLENGSVYVG LNAALCGLIA NSLFRRILNV 

        70         80         90        100        110        120 
TKARIAAGLP MAGIPFLTTD LTYRCFVSFP LNTGDLDCET CTITRSGLTG LVIGGLYPVF 

       130        140        150        160        170        180 
LAIPVNGGLA ARYQSALLPH KGNILSYWIR TSKPVFRKML FPILLQTMFS AYLGSEQYKL 

       190 
LIKALQLSEP GKEIH 

« Hide

Isoform 2 [UniParc].

Checksum: 4E135009E4A66FC0
Show »

FASTA12513,844

References

« Hide 'large scale' references
[1]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Uterus.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Prostate.
[3]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Ovary.
[6]"TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy."
Hanein S., Perrault I., Roche O., Gerber S., Khadom N., Rio M., Boddaert N., Jean-Pierre M., Brahimi N., Serre V., Chretien D., Delphin N., Fares-Taie L., Lachheb S., Rotig A., Meire F., Munnich A., Dufier J.L., Kaplan J., Rozet J.M.
Am. J. Hum. Genet. 84:493-498(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INVOLVEMENT IN OPA7.
[7]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[8]"TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane."
Hanein S., Garcia M., Fares-Taie L., Serre V., De Keyzer Y., Delaveau T., Perrault I., Delphin N., Gerber S., Schmitt A., Masse J.M., Munnich A., Kaplan J., Devaux F., Rozet J.M.
Biochim. Biophys. Acta 1830:3719-3733(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, TOPOLOGY, TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AL136941 mRNA. Translation: CAB66875.1.
AK312081 mRNA. Translation: BAG35017.1.
AP000642 Genomic DNA. No translation available.
CH471076 Genomic DNA. Translation: EAW75102.1.
BC007875 mRNA. Translation: AAH07875.1.
CCDSCCDS58165.1. [Q9H061-2]
CCDS8268.1. [Q9H061-1]
RefSeqNP_001231664.1. NM_001244735.1. [Q9H061-2]
NP_115649.1. NM_032273.3. [Q9H061-1]
UniGeneHs.533725.

3D structure databases

ProteinModelPortalQ9H061.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123966. 9 interactions.
MINTMINT-4725405.
STRING9606.ENSP00000306887.

PTM databases

PhosphoSiteQ9H061.

Polymorphism databases

DMDM74733515.

Proteomic databases

MaxQBQ9H061.
PaxDbQ9H061.
PeptideAtlasQ9H061.
PRIDEQ9H061.

Protocols and materials databases

DNASU84233.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000304511; ENSP00000306887; ENSG00000171202. [Q9H061-1]
ENST00000528105; ENSP00000436590; ENSG00000171202. [Q9H061-2]
ENST00000532180; ENSP00000434357; ENSG00000171202. [Q9H061-2]
GeneID84233.
KEGGhsa:84233.
UCSCuc001par.3. human. [Q9H061-1]

Organism-specific databases

CTD84233.
GeneCardsGC11P085359.
HGNCHGNC:25382. TMEM126A.
HPAHPA046648.
MIM612988. gene.
612989. phenotype.
neXtProtNX_Q9H061.
Orphanet227976. Autosomal recessive optic atrophy, OPA7 type.
PharmGKBPA143485645.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG40946.
HOGENOMHOG000059536.
HOVERGENHBG055992.
InParanoidQ9H061.
KOK18157.
OMANCETCTI.
PhylomeDBQ9H061.
TreeFamTF327069.

Gene expression databases

ArrayExpressQ9H061.
BgeeQ9H061.
CleanExHS_TMEM126A.
GenevestigatorQ9H061.

Family and domain databases

InterProIPR009801. DUF1370_TMEM126.
[Graphical view]
PANTHERPTHR16296. PTHR16296. 1 hit.
PfamPF07114. DUF1370. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiTMEM126A.
GenomeRNAi84233.
NextBio73700.
PROQ9H061.
SOURCESearch...

Entry information

Entry nameT126A_HUMAN
AccessionPrimary (citable) accession number: Q9H061
Secondary accession number(s): B2R570, E9PI16
Entry history
Integrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: March 1, 2001
Last modified: July 9, 2014
This is version 97 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM