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Protein

Transmembrane protein 126A

Gene

TMEM126A

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

Functioni

GO - Biological processi

  • optic nerve development Source: BHF-UCL

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

EuPathDBiHostDB:ENSG00000171202.6
HGNCiHGNC:25382 TMEM126A
MIMi612988 gene
neXtProtiNX_Q9H061

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

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
ProteomicsDBi80205
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 Expressed in 198 organ(s), highest expression level in quadriceps femoris
CleanExiHS_TMEM126A
ExpressionAtlasiQ9H061 baseline and differential
GenevisibleiQ9H061 HS

Organism-specific databases

HPAiHPA046648

Interactioni

Protein-protein interaction databases

BioGridi123966, 27 interactors
IntActiQ9H061, 17 interactors
MINTiQ9H061
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

InterProiView protein in InterPro
IPR009801 TMEM126
PANTHERiPTHR16296 PTHR16296, 1 hit
PfamiView protein in Pfam
PF07114 TMEM126, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PI90E9PI90_HUMAN
Transmembrane protein 126A
TMEM126A
95Annotation score:
E9PIH8E9PIH8_HUMAN
Transmembrane protein 126A
TMEM126A
39Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05381764R → H. Corresponds to variant dbSNP:rs11556797EnsemblClinVar.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

Similar proteinsi

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, 27 interactors
IntActiQ9H061, 17 interactors
MINTiQ9H061
STRINGi9606.ENSP00000306887

PTM databases

iPTMnetiQ9H061
PhosphoSitePlusiQ9H061
SwissPalmiQ9H061

Polymorphism and mutation databases

BioMutaiTMEM126A
DMDMi74733515

Proteomic databases

EPDiQ9H061
MaxQBiQ9H061
PaxDbiQ9H061
PeptideAtlasiQ9H061
PRIDEiQ9H061
ProteomicsDBi80205
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
EuPathDBiHostDB:ENSG00000171202.6
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

Miscellaneous databases

ChiTaRSiTMEM126A human
GeneWikiiTMEM126A
GenomeRNAii84233
PROiPR:Q9H061
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000171202 Expressed in 198 organ(s), highest expression level in quadriceps femoris
CleanExiHS_TMEM126A
ExpressionAtlasiQ9H061 baseline and differential
GenevisibleiQ9H061 HS

Family and domain databases

InterProiView protein in InterPro
IPR009801 TMEM126
PANTHERiPTHR16296 PTHR16296, 1 hit
PfamiView protein in Pfam
PF07114 TMEM126, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiT126A_HUMAN
AccessioniPrimary (citable) accession number: Q9H061
Secondary accession number(s): B2R570, E9PI16
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: March 1, 2001
Last modified: November 7, 2018
This is version 125 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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