Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q8IUX1 (T126B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 80. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | 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:
Complex I assembly factor TMEM126B, mitochondrial
Alternative name(s):
Transmembrane protein 126B
Gene names
Name:TMEM126B
ORF Names:HT007
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length230 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Participates in constructing the membrane arm of complex I. Ref.7

Subunit structure

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. Ref.7

Subcellular location

Mitochondrion membrane; Multi-pass membrane protein Ref.7.

Sequence similarities

Belongs to the TMEM126 family.

Sequence caution

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

Ontologies

Keywords
   Cellular componentMembrane
Mitochondrion
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainTransmembrane
Transmembrane helix
   Molecular functionChaperone
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

mitochondrial membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8IUX1-1)

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: Q8IUX1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-18: Missing.
     19-19: P → MWIQVWMT
Note: No experimental confirmation available.
Isoform 3 (identifier: Q8IUX1-3)

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.
Isoform 4 (identifier: Q8IUX1-4)

The sequence of this isoform differs from the canonical sequence as follows:
     171-230: Missing.
Note: No experimental confirmation available.
Isoform 5 (identifier: Q8IUX1-5)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 230230Complex I assembly factor TMEM126B, mitochondrial
PRO_0000280716

Regions

Transmembrane72 – 9221Helical; Potential
Transmembrane110 – 13021Helical; Potential
Transmembrane141 – 16121Helical; Potential
Transmembrane199 – 21921Helical; Potential

Natural variations

Alternative sequence1 – 3030Missing in isoform 3 and isoform 5.
VSP_023870
Alternative sequence1 – 1818Missing in isoform 2.
VSP_023871
Alternative sequence191P → MWIQVWMT in isoform 2.
VSP_023872
Alternative sequence133 – 1408DNISKENC → GEFKFTNV in isoform 3.
VSP_023873
Alternative sequence141 – 23090Missing in isoform 3.
VSP_023874
Alternative sequence171 – 23060Missing in isoform 4.
VSP_023875
Natural variant1981A → V. Ref.6
Corresponds to variant rs17850847 [ dbSNP | Ensembl ].
VAR_031188

Sequences

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

Last modified March 20, 2007. Version 2.
Checksum: B0EB374211C3CF52

FASTA23025,943
        10         20         30         40         50         60 
MVVFGYEAGT KPRDSGVVPV GTEEAPKVFK MAASMHGQPS PSLEDAKLRR PMVIEIIEKN 

        70         80         90        100        110        120 
FDYLRKEMTQ NIYQMATFGT TAGFSGIFSN FLFRRCFKVK HDALKTYASL ATLPFLSTVV 

       130        140        150        160        170        180 
TDKLFVIDAL YSDNISKENC VFRSSLIGIV CGVFYPSSLA FTKNGRLATK YHTVPLPPKG 

       190        200        210        220        230 
RVLIHWMTLC QTQMKLMAIP LVFQIMFGIL NGLYHYAVFE ETLEKTIHEE 

« Hide

Isoform 2 [UniParc].

Checksum: A9DC0A093F4F5415
Show »

FASTA21925,028
Isoform 3 [UniParc].

Checksum: 1215FE57F2EEEC01
Show »

FASTA11012,517
Isoform 4 [UniParc].

Checksum: 4C672BB8E265A167
Show »

FASTA17018,890
Isoform 5 [UniParc].

Checksum: F87140CC9A249FD1
Show »

FASTA20022,766

References

« Hide 'large scale' references
[1]"Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning."
Hu R.-M., Han Z.-G., Song H.-D., Peng Y.-D., Huang Q.-H., Ren S.-X., Gu Y.-J., Huang C.-H., Li Y.-B., Jiang C.-L., Fu G., Zhang Q.-H., Gu B.-W., Dai M., Mao Y.-F., Gao G.-F., Rong R., Ye M. expand/collapse author list , Zhou J., Xu S.-H., Gu J., Shi J.-X., Jin W.-R., Zhang C.-K., Wu T.-M., Huang G.-Y., Chen Z., Chen M.-D., Chen J.-L.
Proc. Natl. Acad. Sci. U.S.A. 97:9543-9548(2000) [PubMed] [Europe PMC] [Abstract]
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. 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 5).
[4]"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].
[5]Mural R.J., Istrail S., Sutton 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].
[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]"Assembly factors for the membrane arm of human complex I."
Andrews B., Carroll J., Ding S., Fearnley I.M., Walker J.E.
Proc. Natl. Acad. Sci. U.S.A. 110:18934-18939(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, SUBUNIT.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS53686.1. [Q8IUX1-5]
CCDS8267.2. [Q8IUX1-1]
RefSeqNP_001180467.1. NM_001193538.2. [Q8IUX1-5]
NP_001243475.1. NM_001256546.1. [Q8IUX1-5]
NP_060950.3. NM_018480.4. [Q8IUX1-1]
UniGeneHs.525063.

3D structure databases

ProteinModelPortalQ8IUX1.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120965. 6 interactions.
IntActQ8IUX1. 1 interaction.
STRING9606.ENSP00000306710.

PTM databases

PhosphoSiteQ8IUX1.

Polymorphism databases

DMDM134035041.

Proteomic databases

MaxQBQ8IUX1.
PaxDbQ8IUX1.
PRIDEQ8IUX1.

Protocols and materials databases

DNASU55863.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000358867; ENSP00000351737; ENSG00000171204. [Q8IUX1-1]
ENST00000393375; ENSP00000377039; ENSG00000171204. [Q8IUX1-5]
ENST00000534341; ENSP00000433471; ENSG00000171204. [Q8IUX1-4]
GeneID55863.
KEGGhsa:55863.
UCSCuc001pan.3. human. [Q8IUX1-3]
uc001pao.4. human. [Q8IUX1-1]

Organism-specific databases

CTD55863.
GeneCardsGC11P085339.
HGNCHGNC:30883. TMEM126B.
HPAHPA014480.
HPA019186.
neXtProtNX_Q8IUX1.
PharmGKBPA143485646.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG41195.
HOGENOMHOG000013087.
HOVERGENHBG094016.
InParanoidQ8IUX1.
KOK18165.
OMADAKLRRP.
OrthoDBEOG7F513J.
PhylomeDBQ8IUX1.
TreeFamTF327069.

Gene expression databases

ArrayExpressQ8IUX1.
BgeeQ8IUX1.
CleanExHS_TMEM126B.
GenevestigatorQ8IUX1.

Family and domain databases

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

Other

ChiTaRSTMEM126B. human.
GeneWikiTMEM126B.
GenomeRNAi55863.
NextBio61173.
PROQ8IUX1.

Entry information

Entry nameT126B_HUMAN
AccessionPrimary (citable) accession number: Q8IUX1
Secondary accession number(s): A8K535 expand/collapse secondary AC list , A8MSS0, Q32Q09, Q8WVU3, Q96EP3, Q9NZ29
Entry history
Integrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: March 20, 2007
Last modified: July 9, 2014
This is version 80 of the entry and version 2 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

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