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Q9H061

- T126A_HUMAN

UniProt

Q9H061 - T126A_HUMAN

Protein

Transmembrane protein 126A

Gene

TMEM126A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 98 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
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    Functioni

    GO - Biological processi

    1. optic nerve development Source: BHF-UCL

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Transmembrane protein 126A
    Gene namesi
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:25382. TMEM126A.

    Subcellular locationi

    Mitochondrion inner membrane 2 Publications; Multi-pass membrane protein 2 Publications

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. mitochondrial inner membrane Source: UniProtKB-SubCell
    3. mitochondrion Source: UniProtKB

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi612989. phenotype.
    Orphaneti227976. Autosomal recessive optic atrophy, OPA7 type.
    PharmGKBiPA143485645.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 195195Transmembrane protein 126APRO_0000270999Add
    BLAST

    Proteomic databases

    MaxQBiQ9H061.
    PaxDbiQ9H061.
    PeptideAtlasiQ9H061.
    PRIDEiQ9H061.

    PTM databases

    PhosphoSiteiQ9H061.

    Expressioni

    Tissue specificityi

    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.2 Publications

    Gene expression databases

    ArrayExpressiQ9H061.
    BgeeiQ9H061.
    CleanExiHS_TMEM126A.
    GenevestigatoriQ9H061.

    Organism-specific databases

    HPAiHPA046648.

    Interactioni

    Protein-protein interaction databases

    BioGridi123966. 9 interactions.
    MINTiMINT-4725405.
    STRINGi9606.ENSP00000306887.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H061.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 3333Mitochondrial matrixSequence AnalysisAdd
    BLAST
    Topological domaini55 – 562Mitochondrial intermembraneSequence Analysis
    Topological domaini78 – 11033Mitochondrial matrixSequence AnalysisAdd
    BLAST
    Topological domaini132 – 15827Mitochondrial intermembraneSequence AnalysisAdd
    BLAST
    Topological domaini176 – 19520Mitochondrial matrixSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei34 – 5421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei57 – 7721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei111 – 13121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei159 – 17517HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the TMEM126 family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG40946.
    HOGENOMiHOG000059536.
    HOVERGENiHBG055992.
    InParanoidiQ9H061.
    KOiK18157.
    OMAiNCETCTI.
    PhylomeDBiQ9H061.
    TreeFamiTF327069.

    Family and domain databases

    InterProiIPR009801. DUF1370_TMEM126.
    [Graphical view]
    PANTHERiPTHR16296. PTHR16296. 1 hit.
    PfamiPF07114. DUF1370. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9H061-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MENHKSNNKE NITIVDISRK INQLPEAERN LLENGSVYVG LNAALCGLIA    50
    NSLFRRILNV TKARIAAGLP MAGIPFLTTD LTYRCFVSFP LNTGDLDCET 100
    CTITRSGLTG LVIGGLYPVF LAIPVNGGLA ARYQSALLPH KGNILSYWIR 150
    TSKPVFRKML FPILLQTMFS AYLGSEQYKL LIKALQLSEP GKEIH 195
    Length:195
    Mass (Da):21,527
    Last modified:March 1, 2001 - v1
    Checksum:i23940169ACA0D698
    GO
    Isoform 2 (identifier: Q9H061-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-70: Missing.

    Note: Gene prediction based on EST data.

    Show »
    Length:125
    Mass (Da):13,844
    Checksum:i4E135009E4A66FC0
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti64 – 641R → H.
    Corresponds to variant rs11556797 [ dbSNP | Ensembl ].
    VAR_053817

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 7070Missing in isoform 2. CuratedVSP_046927Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS58165.1. [Q9H061-2]
    CCDS8268.1. [Q9H061-1]
    RefSeqiNP_001231664.1. NM_001244735.1. [Q9H061-2]
    NP_115649.1. NM_032273.3. [Q9H061-1]
    UniGeneiHs.533725.

    Genome annotation databases

    EnsembliENST00000304511; ENSP00000306887; ENSG00000171202. [Q9H061-1]
    ENST00000528105; ENSP00000436590; ENSG00000171202. [Q9H061-2]
    ENST00000532180; ENSP00000434357; ENSG00000171202. [Q9H061-2]
    GeneIDi84233.
    KEGGihsa:84233.
    UCSCiuc001par.3. human. [Q9H061-1]

    Polymorphism databases

    DMDMi74733515.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS58165.1. [Q9H061-2 ]
    CCDS8268.1. [Q9H061-1 ]
    RefSeqi NP_001231664.1. NM_001244735.1. [Q9H061-2 ]
    NP_115649.1. NM_032273.3. [Q9H061-1 ]
    UniGenei Hs.533725.

    3D structure databases

    ProteinModelPortali Q9H061.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123966. 9 interactions.
    MINTi MINT-4725405.
    STRINGi 9606.ENSP00000306887.

    PTM databases

    PhosphoSitei Q9H061.

    Polymorphism databases

    DMDMi 74733515.

    Proteomic databases

    MaxQBi Q9H061.
    PaxDbi Q9H061.
    PeptideAtlasi Q9H061.
    PRIDEi Q9H061.

    Protocols and materials databases

    DNASUi 84233.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000304511 ; ENSP00000306887 ; ENSG00000171202 . [Q9H061-1 ]
    ENST00000528105 ; ENSP00000436590 ; ENSG00000171202 . [Q9H061-2 ]
    ENST00000532180 ; ENSP00000434357 ; ENSG00000171202 . [Q9H061-2 ]
    GeneIDi 84233.
    KEGGi hsa:84233.
    UCSCi uc001par.3. human. [Q9H061-1 ]

    Organism-specific databases

    CTDi 84233.
    GeneCardsi GC11P085359.
    HGNCi HGNC:25382. TMEM126A.
    HPAi HPA046648.
    MIMi 612988. gene.
    612989. phenotype.
    neXtProti NX_Q9H061.
    Orphaneti 227976. Autosomal recessive optic atrophy, OPA7 type.
    PharmGKBi PA143485645.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG40946.
    HOGENOMi HOG000059536.
    HOVERGENi HBG055992.
    InParanoidi Q9H061.
    KOi K18157.
    OMAi NCETCTI.
    PhylomeDBi Q9H061.
    TreeFami TF327069.

    Miscellaneous databases

    GeneWikii TMEM126A.
    GenomeRNAii 84233.
    NextBioi 73700.
    PROi Q9H061.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9H061.
    Bgeei Q9H061.
    CleanExi HS_TMEM126A.
    Genevestigatori Q9H061.

    Family and domain databases

    InterProi IPR009801. DUF1370_TMEM126.
    [Graphical view ]
    PANTHERi PTHR16296. PTHR16296. 1 hit.
    Pfami PF07114. DUF1370. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. 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.
      , 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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. 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. Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INVOLVEMENT IN OPA7.
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    8. Cited for: SUBCELLULAR LOCATION, TOPOLOGY, TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiT126A_HUMAN
    AccessioniPrimary (citable) accession number: Q9H061
    Secondary accession number(s): B2R570, E9PI16
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 9, 2007
    Last sequence update: March 1, 2001
    Last modified: October 1, 2014
    This is version 98 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3