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Protein

Transmembrane protein 126A

Gene

TMEM126A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

GO - Biological processi

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000171202-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 126A
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:25382. TMEM126A.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 33Mitochondrial matrixSequence analysisAdd BLAST33
Transmembranei34 – 54HelicalSequence analysisAdd BLAST21
Topological domaini55 – 56Mitochondrial intermembraneSequence analysis2
Transmembranei57 – 77HelicalSequence analysisAdd BLAST21
Topological domaini78 – 110Mitochondrial matrixSequence analysisAdd BLAST33
Transmembranei111 – 131HelicalSequence analysisAdd BLAST21
Topological domaini132 – 158Mitochondrial intermembraneSequence analysisAdd BLAST27
Transmembranei159 – 175HelicalSequence analysisAdd BLAST17
Topological domaini176 – 195Mitochondrial matrixSequence analysisAdd BLAST20

GO - Cellular componenti

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

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Optic atrophy 7 with or without auditory neuropathy (OPA7)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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. Some patients manifest hearing loss.
See also OMIM:612989

Organism-specific databases

DisGeNETi84233.
MalaCardsiTMEM126A.
MIMi612989. phenotype.
OpenTargetsiENSG00000171202.
Orphaneti227976. Autosomal recessive optic atrophy, OPA7 type.
PharmGKBiPA143485645.

Polymorphism and mutation databases

BioMutaiTMEM126A.
DMDMi74733515.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002709991 – 195Transmembrane protein 126AAdd BLAST195

Proteomic databases

EPDiQ9H061.
MaxQBiQ9H061.
PaxDbiQ9H061.
PeptideAtlasiQ9H061.
PRIDEiQ9H061.
TopDownProteomicsiQ9H061-1. [Q9H061-1]

PTM databases

iPTMnetiQ9H061.
PhosphoSitePlusiQ9H061.
SwissPalmiQ9H061.

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

BgeeiENSG00000171202.
CleanExiHS_TMEM126A.
ExpressionAtlasiQ9H061. baseline and differential.
GenevisibleiQ9H061. HS.

Organism-specific databases

HPAiHPA046648.

Interactioni

Protein-protein interaction databases

BioGridi123966. 22 interactors.
IntActiQ9H061. 14 interactors.
MINTiMINT-4725405.
STRINGi9606.ENSP00000306887.

Structurei

3D structure databases

ProteinModelPortaliQ9H061.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TMEM126 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IFU0. Eukaryota.
ENOG4111M3W. LUCA.
GeneTreeiENSGT00520000055616.
HOGENOMiHOG000059536.
HOVERGENiHBG055992.
InParanoidiQ9H061.
KOiK18157.
OMAiGNILNYW.
OrthoDBiEOG091G0RCO.
PhylomeDBiQ9H061.
TreeFamiTF327069.

Family and domain databases

InterProiIPR009801. TMEM126.
[Graphical view]
PANTHERiPTHR16296. PTHR16296. 1 hit.
PfamiPF07114. TMEM126. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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

        10         20         30         40         50
MENHKSNNKE NITIVDISRK INQLPEAERN LLENGSVYVG LNAALCGLIA
60 70 80 90 100
NSLFRRILNV TKARIAAGLP MAGIPFLTTD LTYRCFVSFP LNTGDLDCET
110 120 130 140 150
CTITRSGLTG LVIGGLYPVF LAIPVNGGLA ARYQSALLPH KGNILSYWIR
160 170 180 190
TSKPVFRKML FPILLQTMFS AYLGSEQYKL LIKALQLSEP GKEIH
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_05381764R → H.Corresponds to variant rs11556797dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0469271 – 70Missing in isoform 2. CuratedAdd BLAST70

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.4. human. [Q9H061-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ9H061.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123966. 22 interactors.
IntActiQ9H061. 14 interactors.
MINTiMINT-4725405.
STRINGi9606.ENSP00000306887.

PTM databases

iPTMnetiQ9H061.
PhosphoSitePlusiQ9H061.
SwissPalmiQ9H061.

Polymorphism and mutation databases

BioMutaiTMEM126A.
DMDMi74733515.

Proteomic databases

EPDiQ9H061.
MaxQBiQ9H061.
PaxDbiQ9H061.
PeptideAtlasiQ9H061.
PRIDEiQ9H061.
TopDownProteomicsiQ9H061-1. [Q9H061-1]

Protocols and materials databases

DNASUi84233.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000304511; ENSP00000306887; ENSG00000171202. [Q9H061-1]
ENST00000528105; ENSP00000436590; ENSG00000171202. [Q9H061-2]
ENST00000532180; ENSP00000434357; ENSG00000171202. [Q9H061-2]
GeneIDi84233.
KEGGihsa:84233.
UCSCiuc001par.4. human. [Q9H061-1]

Organism-specific databases

CTDi84233.
DisGeNETi84233.
GeneCardsiTMEM126A.
HGNCiHGNC:25382. TMEM126A.
HPAiHPA046648.
MalaCardsiTMEM126A.
MIMi612988. gene.
612989. phenotype.
neXtProtiNX_Q9H061.
OpenTargetsiENSG00000171202.
Orphaneti227976. Autosomal recessive optic atrophy, OPA7 type.
PharmGKBiPA143485645.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFU0. Eukaryota.
ENOG4111M3W. LUCA.
GeneTreeiENSGT00520000055616.
HOGENOMiHOG000059536.
HOVERGENiHBG055992.
InParanoidiQ9H061.
KOiK18157.
OMAiGNILNYW.
OrthoDBiEOG091G0RCO.
PhylomeDBiQ9H061.
TreeFamiTF327069.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000171202-MONOMER.

Miscellaneous databases

GeneWikiiTMEM126A.
GenomeRNAii84233.
PROiQ9H061.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000171202.
CleanExiHS_TMEM126A.
ExpressionAtlasiQ9H061. baseline and differential.
GenevisibleiQ9H061. HS.

Family and domain databases

InterProiIPR009801. TMEM126.
[Graphical view]
PANTHERiPTHR16296. PTHR16296. 1 hit.
PfamiPF07114. TMEM126. 1 hit.
[Graphical view]
ProtoNetiSearch...

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: November 2, 2016
This is version 116 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.