Q8IUX1 (T126B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Transmembrane protein 126B

Gene names

Name:	TMEM126B
ORF Names:	HT007

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	230 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Involved in assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) By similarity.
Subunit structure	Part of the mitochondrial complex I assembly (MCIA) complex. The complex comprises at least TMEM126B, CIA30, ECSIT, and ACAD9 By similarity.
Subcellular location	Mitochondrion membrane; Multi-pass membrane protein By similarity.
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 component	Membrane Mitochondrion
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 230	230	Transmembrane protein 126B		PRO_0000280716
Regions
	Transmembrane	72 – 92	21	Helical; Potential
	Transmembrane	110 – 130	21	Helical; Potential
	Transmembrane	141 – 161	21	Helical; Potential
	Transmembrane	199 – 219	21	Helical; Potential
Natural variations
	Alternative sequence	1 – 30	30	Missing in isoform 3 and isoform 5.		VSP_023870
	Alternative sequence	1 – 18	18	Missing in isoform 2.		VSP_023871
	Alternative sequence	19	1	P → MWIQVWMT in isoform 2.		VSP_023872
	Alternative sequence	133 – 140	8	DNISKENC → GEFKFTNV in isoform 3.		VSP_023873
	Alternative sequence	141 – 230	90	Missing in isoform 3.		VSP_023874
	Alternative sequence	171 – 230	60	Missing in isoform 4.		VSP_023875
	Natural variant	198	1	A → V. Ref.6 Corresponds to variant rs17850847 [ dbSNP | Ensembl ].		VAR_031188

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 20, 2007. Version 2. Checksum: B0EB374211C3CF52	FASTA	230	25,943
	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
	Isoform 2 [UniParc]. Checksum: A9DC0A093F4F5415	FASTA	219	25,028
	10 20 30 40 50 60 MWIQVWMTVG TEEAPKVFKM AASMHGQPSP SLEDAKLRRP MVIEIIEKNF DYLRKEMTQN 70 80 90 100 110 120 IYQMATFGTT AGFSGIFSNF LFRRCFKVKH DALKTYASLA TLPFLSTVVT DKLFVIDALY 130 140 150 160 170 180 SDNISKENCV FRSSLIGIVC GVFYPSSLAF TKNGRLATKY HTVPLPPKGR VLIHWMTLCQ 190 200 210 TQMKLMAIPL VFQIMFGILN GLYHYAVFEE TLEKTIHEE
	Isoform 3 [UniParc]. Checksum: 1215FE57F2EEEC01	FASTA	110	12,517
	10 20 30 40 50 60 MAASMHGQPS PSLEDAKLRR PMVIEIIEKN FDYLRKEMTQ NIYQMATFGT TAGFSGIFSN 70 80 90 100 110 FLFRRCFKVK HDALKTYASL ATLPFLSTVV TDKLFVIDAL YSGEFKFTNV
	Isoform 4 [UniParc]. Checksum: 4C672BB8E265A167	FASTA	170	18,890
	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 TDKLFVIDAL YSDNISKENC VFRSSLIGIV CGVFYPSSLA FTKNGRLATK
	Isoform 5 [UniParc]. Checksum: F87140CC9A249FD1	FASTA	200	22,766
	10 20 30 40 50 60 MAASMHGQPS PSLEDAKLRR PMVIEIIEKN FDYLRKEMTQ NIYQMATFGT TAGFSGIFSN 70 80 90 100 110 120 FLFRRCFKVK HDALKTYASL ATLPFLSTVV TDKLFVIDAL YSDNISKENC VFRSSLIGIV 130 140 150 160 170 180 CGVFYPSSLA FTKNGRLATK YHTVPLPPKG RVLIHWMTLC QTQMKLMAIP LVFQIMFGIL 190 200 NGLYHYAVFE ETLEKTIHEE

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. , 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. , 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. , 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. , 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.
+	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.
IPI	IPI00020540. IPI00477843. IPI00829733. IPI00829966. IPI00830000.
RefSeq	NP_001180467.1. NM_001193538.2. NP_001243475.1. NM_001256546.1. NP_060950.3. NM_018480.4.
UniGene	Hs.525063.
3D structure databases
ProteinModelPortal	Q8IUX1.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8IUX1. 1 interaction.
STRING	9606.ENSP00000306710.
PTM databases
PhosphoSite	Q8IUX1.
Polymorphism databases
DMDM	134035041.
Proteomic databases
PaxDb	Q8IUX1.
PRIDE	Q8IUX1.
Protocols and materials databases
DNASU	55863.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000358867; ENSP00000351737; ENSG00000171204. ENST00000393375; ENSP00000377039; ENSG00000171204. ENST00000534341; ENSP00000433471; ENSG00000171204.
GeneID	55863.
KEGG	hsa:55863.
UCSC	uc001pan.2. human. uc001pao.3. human.
Organism-specific databases
CTD	55863.
GeneCards	GC11P085339.
HGNC	HGNC:30883. TMEM126B.
HPA	HPA014480. HPA019186.
neXtProt	NX_Q8IUX1.
PharmGKB	PA143485646.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG41195.
HOGENOM	HOG000013087.
HOVERGEN	HBG094016.
InParanoid	Q8IUX1.
OMA	DAKLRRP.
OrthoDB	EOG43XV4H.
Gene expression databases
ArrayExpress	Q8IUX1.
Bgee	Q8IUX1.
CleanEx	HS_TMEM126B.
Genevestigator	Q8IUX1.
Family and domain databases
InterPro	IPR009801. DUF1370_TMEM126. [Graphical view]
PANTHER	PTHR16296. PTHR16296. 1 hit.
Pfam	PF07114. DUF1370. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	TMEM126B. human.
GenomeRNAi	55863.
NextBio	61173.

Entry information

Entry name

T126B_HUMAN

Accession

Primary (citable) accession number: Q8IUX1
Secondary accession number(s): A8K535 , A8MSS0, Q32Q09, Q8WVU3, Q96EP3, Q9NZ29

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 20, 2007
Last sequence update:	March 20, 2007
Last modified:	May 1, 2013
This is version 68 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.