TOR1AIP1
entrez
26092
canonical
uniprot
Q5JTV8
canonical
ensembl
ENSG00000143337
resolver
ensp
ENSP00000435365
resolver
ensp
ENSP00000476687
resolver
genesymbol
TOR1AIP1
resolver
genesymbol_syn
LAP1
resolver
hgnc
HGNC:29456
resolver
uniprot
A0A0A0MSK5
resolver
uniprot
A8K630
resolver
uniprot
B0QZ57
resolver
uniprot
Q5JTV6
resolver
uniprot
Q8IZ65
resolver
uniprot
Q9H8Y6
resolver
uniprot
Q9HAJ1
resolver
uniprot
Q9NV52
resolver
uniprot
Q9Y3X5
resolver
uniprot_entry
TOIP1_HUMAN
resolver
uniprot_sec
A0A0A0MSK5
resolver
uniprot_sec
A8K630
resolver
uniprot_sec
B0QZ57
resolver
uniprot_sec
Q5JTV6
resolver
uniprot_sec
Q8IZ65
resolver
uniprot_sec
Q9H8Y6
resolver
uniprot_sec
Q9HAJ1
resolver
uniprot_sec
Q9NV52
resolver
uniprot_sec
Q9Y3X5
resolver
amino_acid_sequence
MAGDGRRAEAVREGWGVYVTPRAPIREGRGRLAPQNGGSSDAPAYRTPPSRQGRREVRFSDEPPEVYGDFEPLVAKERSPVGKRTRLEEFRSDSAKEEVRESAYYLRSRQRRQPRPQETEEMKTRRTTRLQQQHSEQPPLQPSPVMTRRGLRDSHSSEEDEASSQTDLSQTISKKTVRSIQEAPVSEDLVIRLRRPPLRYPRYEATSVQQKVNFSEEGETEEDDQDSSHSSVTTVKARSRDSDESGDKTTRSSSQYIESFWQSSQSQNFTAHDKQPSVLSSGYQKTPQEWAPQTARIRTRMQNDSILKSELGNQSPSTSSRQVTGQPQNASFVKRNRWWLLPLIAALASGSFWFFSTPEVETTAVQEFQNQMNQLKNKYQGQDEKLWKRSQTFLEKHLNSSHPRSQPAILLLTAARDAEEALRCLSEQIADAYSSFRSVRAIRIDGTDKATQDSDTVKLEVDQELSNGFKNGQNAAVVHRFESFPAGSTLIFYKYCDHENAAFKDVALVLTVLLEEETLGTSLGLKEVEEKVRDFLKVKFTNSNTPNSYNHMDPDKLNGLWSRISHLVLPVQPENALKRGICL
uniprot
proteins
disease_involvement
DISEASE: Myopathy, autosomal recessive, with rigid spine and distal joint contractures (MRRSDC) [MIM:617072]: An autosomal recessive degenerative myopathy characterized by muscle weakness initially involving the proximal lower limbs, followed by distal upper and lower limb muscle weakness and atrophy. Other features include joint contractures, rigid spine, and restricted pulmonary function. Cardiac involvement has been observed in some patients. Disease onset is in the first or second decades of life. {ECO:0000269|PubMed:24856141}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for nuclear membrane integrity. Induces TOR1A and TOR1B ATPase activity and is required for their location on the nuclear membrane. Binds to A- and B-type lamins. Possible role in membrane attachment and assembly of the nuclear lamina. {ECO:0000269|PubMed:23569223}.
uniprot
proteins
mass_dalton
66248
uniprot
proteins
post_translational_modification
PTM: Phosphorylated. Dephosphorylated at Ser-309 and Ser-315 by serine/threonine-protein phosphatase PP1. {ECO:0000269|PubMed:25461922}.
uniprot
proteins
protein_family
TOR1AIP family
uniprot
proteins
pubmed
12061773
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15767459
uniprot
proteins
pubmed
16361107
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23569223
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24275647
uniprot
proteins
pubmed
24856141
uniprot
proteins
pubmed
25461922
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28112733
uniprot
proteins
sequence_length
583
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus inner membrane {ECO:0000269|PubMed:12061773, ECO:0000269|PubMed:24275647}; Single-pass membrane protein {ECO:0000269|PubMed:12061773, ECO:0000269|PubMed:24275647}.; SUBCELLULAR LOCATION: [Isoform 4]: Nucleus envelope {ECO:0000269|PubMed:25461922}. Nucleus {ECO:0000269|PubMed:25461922}. Note=Found mainly in the nuclear envelope and also inside the nucleus. {ECO:0000269|PubMed:25461922}.
uniprot
proteins
transmembrane_region
TRANSMEM 339..355; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins