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Protein

Transmembrane protein 53

Gene

TMEM53

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

Functioni

Protein family/group databases

ESTHERihuman-TMEM53 Duf_829

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 53
Gene namesi
Name:TMEM53
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000126106.13
HGNCiHGNC:26186 TMEM53
neXtProtiNX_Q6P2H8

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
Transmembranei171 – 191HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000126106
PharmGKBiPA142670769

Polymorphism and mutation databases

BioMutaiTMEM53
DMDMi74758243

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002841181 – 277Transmembrane protein 53Add BLAST277

Proteomic databases

PaxDbiQ6P2H8
PeptideAtlasiQ6P2H8
PRIDEiQ6P2H8

PTM databases

iPTMnetiQ6P2H8
PhosphoSitePlusiQ6P2H8

Expressioni

Gene expression databases

BgeeiENSG00000126106
CleanExiHS_TMEM53
ExpressionAtlasiQ6P2H8 baseline and differential
GenevisibleiQ6P2H8 HS

Organism-specific databases

HPAiHPA021134

Interactioni

Protein-protein interaction databases

BioGridi122767, 4 interactors
STRINGi9606.ENSP00000361311

Structurei

3D structure databases

ProteinModelPortaliQ6P2H8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TMEM53 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2521 Eukaryota
ENOG4111184 LUCA
GeneTreeiENSGT00390000000715
HOGENOMiHOG000230532
HOVERGENiHBG056173
InParanoidiQ6P2H8
OMAiSNGGFML
OrthoDBiEOG091G0AQW
PhylomeDBiQ6P2H8
TreeFamiTF313176

Family and domain databases

Gene3Di3.40.50.1820, 1 hit
InterProiView protein in InterPro
IPR029058 AB_hydrolase
IPR008547 DUF829_TMEM53
PANTHERiPTHR12265 PTHR12265, 1 hit
PfamiView protein in Pfam
PF05705 DUF829, 1 hit
SUPFAMiSSF53474 SSF53474, 2 hits

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q6P2H8-1) [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
MASAELDYTI EIPDQPCWSQ KNSPSPGGKE AETRQPVVIL LGWGGCKDKN
60 70 80 90 100
LAKYSAIYHK RGCIVIRYTA PWHMVFFSES LGIPSLRVLA QKLLELLFDY
110 120 130 140 150
EIEKEPLLFH VFSNGGVMLY RYVLELLQTR RFCRLRVVGT IFDSAPGDSN
160 170 180 190 200
LVGALRALAA ILERRAAMLR LLLLVAFALV VVLFHVLLAP ITALFHTHFY
210 220 230 240 250
DRLQDAGSRW PELYLYSRAD EVVLARDIER MVEARLARRV LARSVDFVSS
260 270
AHVSHLRDYP TYYTSLCVDF MRNCVRC
Length:277
Mass (Da):31,630
Last modified:July 5, 2004 - v1
Checksum:i487C46C92F78629E
GO
Isoform 2 (identifier: Q6P2H8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-73: Missing.

Show »
Length:204
Mass (Da):23,473
Checksum:iFCF38205BC00451C
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti177F → L in BAB15317 (PubMed:14702039).Curated1
Sequence conflicti184F → L in CAG33629 (Ref. 2) Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0244461 – 73Missing in isoform 2. 2 PublicationsAdd BLAST73

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK026006 mRNA Translation: BAB15317.1
AK296548 mRNA Translation: BAG59172.1
CR457348 mRNA Translation: CAG33629.1
AL832539 mRNA Translation: CAI46125.1
AL122004 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX07029.1
BC064520 mRNA Translation: AAH64520.1
CCDSiCCDS511.1 [Q6P2H8-1]
RefSeqiNP_001287675.1, NM_001300746.1 [Q6P2H8-2]
NP_001287676.1, NM_001300747.1
NP_001287677.1, NM_001300748.1
NP_078863.2, NM_024587.3 [Q6P2H8-1]
UniGeneiHs.22157

Genome annotation databases

EnsembliENST00000372237; ENSP00000361311; ENSG00000126106 [Q6P2H8-1]
GeneIDi79639
KEGGihsa:79639
UCSCiuc001cmc.4 human [Q6P2H8-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiTMM53_HUMAN
AccessioniPrimary (citable) accession number: Q6P2H8
Secondary accession number(s): B4DKG0
, Q5JPH2, Q6IA07, Q9H6E2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 17, 2007
Last sequence update: July 5, 2004
Last modified: March 28, 2018
This is version 110 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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families

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