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Q9H061

- T126A_HUMAN

UniProt

Q9H061 - T126A_HUMAN

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Protein
Transmembrane protein 126A
Gene
TMEM126A
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at protein leveli

Functioni

GO - Biological processi

  1. optic nerve development Source: BHF-UCL
Complete GO annotation...

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; Multi-pass membrane protein 2 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 3333Mitochondrial matrix Reviewed prediction
Add
BLAST
Transmembranei34 – 5421Helical; Reviewed prediction
Add
BLAST
Topological domaini55 – 562Mitochondrial intermembrane Reviewed prediction
Transmembranei57 – 7721Helical; Reviewed prediction
Add
BLAST
Topological domaini78 – 11033Mitochondrial matrix Reviewed prediction
Add
BLAST
Transmembranei111 – 13121Helical; Reviewed prediction
Add
BLAST
Topological domaini132 – 15827Mitochondrial intermembrane Reviewed prediction
Add
BLAST
Transmembranei159 – 17517Helical; Reviewed prediction
Add
BLAST
Topological domaini176 – 19520Mitochondrial matrix Reviewed prediction
Add
BLAST

GO - Cellular componenti

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

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

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 126A
PRO_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.

Family & Domainsi

Sequence similaritiesi

Belongs to the TMEM126 family.

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.
VSP_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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 97 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

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