TMEM151A
entrez
256472
canonical
uniprot
Q8N4L1
canonical
ensembl
ENSG00000179292
resolver
ensp
ENSP00000326244
resolver
enst
ENST00000327259
resolver
genesymbol
TMEM151A
resolver
genesymbol_syn
TMEM151
resolver
hgnc
HGNC:28497
resolver
uniprot
Q8ND14
resolver
uniprot_entry
T151A_HUMAN
resolver
uniprot_sec
Q8ND14
resolver
amino_acid_sequence
MPEDGAGDGGEVPALIPDGEPLREEQRPLKQSLGSSLCRESHWKCLLLTLLIHACGAVVAWCRLATVPRLVLGPEAALARGAGGPPPTYPASPCSDGYLYIPLAFVSLLYLLYLAECWHCHVRSCQAPRTDAHTVLALIRRLQQAPPCVWWKATSYHYVRRTRQITRYRNGDAYTTTQVYHERADSRTARGEFDYSAHGVRDVSKELVGLAEHAATRLRFTKCFSFGSAEAEASYLTQRARFFSANEGLDDYLEAREGMHLKDVDFRESLMVFADPRSPPWYARAWVFWLVSAATLSWPLRVVAAYGTAHVHYQVEKLFGASSPPPGAVPSGPPLSRVATVDFTELEWHICSNRQLVPSYSEAVVMGAGSGAYLRGCQRCRRSVSSNSLPPARPSGPRLPFSRSRLSLGAGGRATPGVFRSLSGGPLGRRGEDTEPLESPPCYEDALYFPVLIVHGDSGCQGDGQGAL
uniprot
proteins
disease_involvement
DISEASE: Episodic kinesigenic dyskinesia 3 (EKD3) [MIM:620245]: A form of paroxysmal kinesigenic dyskinesia, a neurologic condition characterized by recurrent and brief attacks of abnormal involuntary movements. These attacks can involve dystonic postures, chorea, or athetosis. EKD3 is an autosomal dominant form with incomplete penetrance and onset in late childhood or early adolescence. Symptoms are usually triggered by sudden movement or stress, and resolve in most patients in their early twenties or later. {ECO:0000269|PubMed:34518509, ECO:0000269|PubMed:34820915, ECO:0000269|PubMed:35587630, ECO:0000269|PubMed:35727387, ECO:0000269|PubMed:36856871}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
mass_dalton
51278
uniprot
proteins
protein_family
TMEM151 family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
34518509
uniprot
proteins
pubmed
34711800
uniprot
proteins
pubmed
34820915
uniprot
proteins
pubmed
35587630
uniprot
proteins
pubmed
35727387
uniprot
proteins
pubmed
36856871
uniprot
proteins
pubmed
39454747
uniprot
proteins
sequence_length
468
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:39454747}; Multi-pass membrane protein {ECO:0000255}. Cell projection, axon {ECO:0000250|UniProtKB:Q6GQT5}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q6GQT5}. Cell membrane {ECO:0000269|PubMed:39454747}; Multi-pass membrane protein {ECO:0000255}. Endosome membrane {ECO:0000269|PubMed:39454747}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 45..65; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 98..118; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins