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TMEM43 (human)

Overview TMEM43 May have an important role in maintaining nuclear envelope structure by organizing protein complexes at the inner nuclear membrane. Required for retaining emerin at the inner nuclear membrane. Defects in TMEM43 are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5); also known as arrhythmogenic right ventricular cardiomyopathy (ARVC5). ARVD is an autosomal dominant disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability, and sudden death. It is clinically defined by electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall. Belongs to the TMEM43 family. Note: This description may include information from UniProtKB. Protein type: Membrane protein, integral Cellular Component: Golgi apparatus; endoplasmic reticulum; integral to membrane; nuclear inner membrane Reference #:  Q9BTV4 (UniProtKB) Alt. Names/Synonyms: ARVC5; ARVD5; DKFZp586G1919; LUMA; MGC3222; Protein LUMA; TMEM43; TMM43; Transmembrane protein 43 Gene Symbols: TMEM43 Molecular weight: 44,876 Da Basal Isoelectric point: 7.86  Predict pI for various phosphorylation states

Select Structure to View Below TMEM43

STRING  |  Scansite  |  Phospho.ELM  |  NetworKIN  |  Pfam  |  DISEASE 604400 612048  |  Source  |  InnateDB  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene

	Modification Sites and Domains	Show Modification Legend
Click here to view phosphorylation modifications only

	Modification Sites in Parent Protein, Orthologs, and Isoforms	Show Modification Legend

SS  SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.	MS  MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.			human
0	1		T60-p	NEGRALKtATSLAEG
0	1		K99-u	IGALRTSkLLsDPNY
0	1		S102-p	LRTSkLLsDPNYGVH
0	1		S193-p	QIGRFFLsSGLIDKV
0	1		S209-p	NFKSLSLsKLEDPHV
0	1		K232-u	FYHSENPkyPEVGDL
0	5		Y233-p	YHSENPkyPEVGDLR
0	1		T282-p	FSTKSGDtLLLLHHG

	mouse
T60	NEGRALKTATSLAEG
K99	IGALRTSKLLSDPNY
S102	LRTSKLLSDPNYGVH
S193	QIGRFFLSAGLIDKI
A209	NFKALSLAKLEDPHV
K232	FYHSENPKYPEVGDV
Y233	YHSENPKYPEVGDVR
T282	YSTKSGDTLLLLHHG

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