Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q8IUX1

- T126B_HUMAN

UniProt

Q8IUX1 - T126B_HUMAN

Protein

Complex I assembly factor TMEM126B, mitochondrial

Gene

TMEM126B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 82 (01 Oct 2014)
      Sequence version 2 (20 Mar 2007)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Participates in constructing the membrane arm of complex I.1 Publication

    Keywords - Molecular functioni

    Chaperone

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Complex I assembly factor TMEM126B, mitochondrial
    Alternative name(s):
    Transmembrane protein 126B
    Gene namesi
    ORF Names:HT007
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:30883. TMEM126B.

    Subcellular locationi

    Mitochondrion membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Membrane, Mitochondrion

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA143485646.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 230230Complex I assembly factor TMEM126B, mitochondrialPRO_0000280716Add
    BLAST

    Proteomic databases

    MaxQBiQ8IUX1.
    PaxDbiQ8IUX1.
    PRIDEiQ8IUX1.

    PTM databases

    PhosphoSiteiQ8IUX1.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8IUX1.
    BgeeiQ8IUX1.
    CleanExiHS_TMEM126B.
    GenevestigatoriQ8IUX1.

    Organism-specific databases

    HPAiHPA014480.
    HPA019186.

    Interactioni

    Subunit structurei

    Part of the mitochondrial complex I assembly (MCIA) complex. The complex comprises at least TMEM126B, NDUFAF1, ECSIT, and ACAD9 By similarity. Associates with the intermediate 370 kDa subcomplex of incompletely assembled complex I.By similarity1 Publication

    Protein-protein interaction databases

    BioGridi120965. 6 interactions.
    IntActiQ8IUX1. 1 interaction.
    STRINGi9606.ENSP00000306710.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8IUX1.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei72 – 9221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei110 – 13021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei141 – 16121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei199 – 21921HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the TMEM126 family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG41195.
    HOGENOMiHOG000013087.
    HOVERGENiHBG094016.
    InParanoidiQ8IUX1.
    KOiK18165.
    OMAiDAKLRRP.
    OrthoDBiEOG7F513J.
    PhylomeDBiQ8IUX1.
    TreeFamiTF327069.

    Family and domain databases

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

    Sequences (5)i

    Sequence statusi: Complete.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8IUX1-1) [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

    MVVFGYEAGT KPRDSGVVPV GTEEAPKVFK MAASMHGQPS PSLEDAKLRR    50
    PMVIEIIEKN FDYLRKEMTQ NIYQMATFGT TAGFSGIFSN FLFRRCFKVK 100
    HDALKTYASL ATLPFLSTVV TDKLFVIDAL YSDNISKENC VFRSSLIGIV 150
    CGVFYPSSLA FTKNGRLATK YHTVPLPPKG RVLIHWMTLC QTQMKLMAIP 200
    LVFQIMFGIL NGLYHYAVFE ETLEKTIHEE 230
    Length:230
    Mass (Da):25,943
    Last modified:March 20, 2007 - v2
    Checksum:iB0EB374211C3CF52
    GO
    Isoform 2 (identifier: Q8IUX1-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-18: Missing.
         19-19: P → MWIQVWMT

    Note: No experimental confirmation available.

    Show »
    Length:219
    Mass (Da):25,028
    Checksum:iA9DC0A093F4F5415
    GO
    Isoform 3 (identifier: Q8IUX1-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-30: Missing.
         133-140: DNISKENC → GEFKFTNV
         141-230: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:110
    Mass (Da):12,517
    Checksum:i1215FE57F2EEEC01
    GO
    Isoform 4 (identifier: Q8IUX1-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         171-230: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:170
    Mass (Da):18,890
    Checksum:i4C672BB8E265A167
    GO
    Isoform 5 (identifier: Q8IUX1-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-30: Missing.

    Show »
    Length:200
    Mass (Da):22,766
    Checksum:iF87140CC9A249FD1
    GO

    Sequence cautioni

    The sequence AAI07901.1 differs from that shown. Reason: Frameshift at position 59.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti198 – 1981A → V.1 Publication
    Corresponds to variant rs17850847 [ dbSNP | Ensembl ].
    VAR_031188

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 3030Missing in isoform 3 and isoform 5. 2 PublicationsVSP_023870Add
    BLAST
    Alternative sequencei1 – 1818Missing in isoform 2. 1 PublicationVSP_023871Add
    BLAST
    Alternative sequencei19 – 191P → MWIQVWMT in isoform 2. 1 PublicationVSP_023872
    Alternative sequencei133 – 1408DNISKENC → GEFKFTNV in isoform 3. 1 PublicationVSP_023873
    Alternative sequencei141 – 23090Missing in isoform 3. 1 PublicationVSP_023874Add
    BLAST
    Alternative sequencei171 – 23060Missing in isoform 4. 1 PublicationVSP_023875Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF220193 mRNA. Translation: AAF67658.1.
    CR612738 mRNA. No translation available.
    AK291150 mRNA. Translation: BAF83839.1.
    AP000642 Genomic DNA. No translation available.
    CH471076 Genomic DNA. Translation: EAW75098.1.
    BC012065 mRNA. Translation: AAH12065.1.
    BC017574 mRNA. Translation: AAH17574.1.
    BC038933 mRNA. Translation: AAH38933.1.
    BC107900 mRNA. Translation: AAI07901.1. Frameshift.
    CCDSiCCDS53686.1. [Q8IUX1-5]
    CCDS8267.2. [Q8IUX1-1]
    RefSeqiNP_001180467.1. NM_001193538.2. [Q8IUX1-5]
    NP_001243475.1. NM_001256546.1. [Q8IUX1-5]
    NP_060950.3. NM_018480.4. [Q8IUX1-1]
    UniGeneiHs.525063.

    Genome annotation databases

    EnsembliENST00000358867; ENSP00000351737; ENSG00000171204. [Q8IUX1-1]
    ENST00000393375; ENSP00000377039; ENSG00000171204. [Q8IUX1-5]
    ENST00000534341; ENSP00000433471; ENSG00000171204. [Q8IUX1-4]
    GeneIDi55863.
    KEGGihsa:55863.
    UCSCiuc001pan.3. human. [Q8IUX1-3]
    uc001pao.4. human. [Q8IUX1-1]

    Polymorphism databases

    DMDMi134035041.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF220193 mRNA. Translation: AAF67658.1 .
    CR612738 mRNA. No translation available.
    AK291150 mRNA. Translation: BAF83839.1 .
    AP000642 Genomic DNA. No translation available.
    CH471076 Genomic DNA. Translation: EAW75098.1 .
    BC012065 mRNA. Translation: AAH12065.1 .
    BC017574 mRNA. Translation: AAH17574.1 .
    BC038933 mRNA. Translation: AAH38933.1 .
    BC107900 mRNA. Translation: AAI07901.1 . Frameshift.
    CCDSi CCDS53686.1. [Q8IUX1-5 ]
    CCDS8267.2. [Q8IUX1-1 ]
    RefSeqi NP_001180467.1. NM_001193538.2. [Q8IUX1-5 ]
    NP_001243475.1. NM_001256546.1. [Q8IUX1-5 ]
    NP_060950.3. NM_018480.4. [Q8IUX1-1 ]
    UniGenei Hs.525063.

    3D structure databases

    ProteinModelPortali Q8IUX1.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120965. 6 interactions.
    IntActi Q8IUX1. 1 interaction.
    STRINGi 9606.ENSP00000306710.

    PTM databases

    PhosphoSitei Q8IUX1.

    Polymorphism databases

    DMDMi 134035041.

    Proteomic databases

    MaxQBi Q8IUX1.
    PaxDbi Q8IUX1.
    PRIDEi Q8IUX1.

    Protocols and materials databases

    DNASUi 55863.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000358867 ; ENSP00000351737 ; ENSG00000171204 . [Q8IUX1-1 ]
    ENST00000393375 ; ENSP00000377039 ; ENSG00000171204 . [Q8IUX1-5 ]
    ENST00000534341 ; ENSP00000433471 ; ENSG00000171204 . [Q8IUX1-4 ]
    GeneIDi 55863.
    KEGGi hsa:55863.
    UCSCi uc001pan.3. human. [Q8IUX1-3 ]
    uc001pao.4. human. [Q8IUX1-1 ]

    Organism-specific databases

    CTDi 55863.
    GeneCardsi GC11P085339.
    HGNCi HGNC:30883. TMEM126B.
    HPAi HPA014480.
    HPA019186.
    MIMi 615533. gene.
    neXtProti NX_Q8IUX1.
    PharmGKBi PA143485646.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG41195.
    HOGENOMi HOG000013087.
    HOVERGENi HBG094016.
    InParanoidi Q8IUX1.
    KOi K18165.
    OMAi DAKLRRP.
    OrthoDBi EOG7F513J.
    PhylomeDBi Q8IUX1.
    TreeFami TF327069.

    Miscellaneous databases

    ChiTaRSi TMEM126B. human.
    GeneWikii TMEM126B.
    GenomeRNAii 55863.
    NextBioi 61173.
    PROi Q8IUX1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8IUX1.
    Bgeei Q8IUX1.
    CleanExi HS_TMEM126B.
    Genevestigatori Q8IUX1.

    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 2).
      Tissue: Hypothalamus.
    2. "Full-length cDNA libraries and normalization."
      Li W.B., Gruber C., Jessee J., Polayes D.
      Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Cervix carcinoma.
    3. "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 5).
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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] (ISOFORMS 3; 4 AND 5), VARIANT VAL-198.
      Tissue: B-cell, Blood vessel and Brain.
    7. Cited for: FUNCTION, SUBCELLULAR LOCATION, SUBUNIT.

    Entry informationi

    Entry nameiT126B_HUMAN
    AccessioniPrimary (citable) accession number: Q8IUX1
    Secondary accession number(s): A8K535
    , A8MSS0, Q32Q09, Q8WVU3, Q96EP3, Q9NZ29
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 20, 2007
    Last sequence update: March 20, 2007
    Last modified: October 1, 2014
    This is version 82 of the entry and version 2 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