KEGG   Homo sapiens (human): 26092Help
Entry
26092             CDS       T01001                                 

Gene name
TOR1AIP1, LAP1, LAP1B, LGMD2Y
Definition
(RefSeq) torsin 1A interacting protein 1
  KO
K23001  torsin-1A-interacting protein
Organism
hsa  Homo sapiens (human)
Disease
H00593  Limb-girdle muscular dystrophy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03110 Chaperones and folding catalysts [BR:hsa03110]
    26092 (TOR1AIP1)
Chaperones and folding catalysts [BR:hsa03110]
 Other chaperones and cochaperones
  Others
   26092 (TOR1AIP1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: LAP1C
Motif
Other DBs
NCBI-GeneID: 26092
NCBI-ProteinID: NP_056417
OMIM: 614512
HGNC: 29456
Ensembl: ENSG00000143337
Vega: OTTHUMG00000035257
Pharos: Q5JTV8(Tbio)
UniProt: Q5JTV8
Structure
PDB: 

Position
1q25.2
AA seq 583 aa AA seqDB search
MAGDGRRAEAVREGWGVYVTPRAPIREGRGRLAPQNGGSSDAPAYRTPPSRQGRREVRFS
DEPPEVYGDFEPLVAKERSPVGKRTRLEEFRSDSAKEEVRESAYYLRSRQRRQPRPQETE
EMKTRRTTRLQQQHSEQPPLQPSPVMTRRGLRDSHSSEEDEASSQTDLSQTISKKTVRSI
QEAPVSEDLVIRLRRPPLRYPRYEATSVQQKVNFSEEGETEEDDQDSSHSSVTTVKARSR
DSDESGDKTTRSSSQYIESFWQSSQSQNFTAHDKQPSVLSSGYQKTPQEWAPQTARIRTR
MQNDSILKSELGNQSPSTSSRQVTGQPQNASFVKRNRWWLLPLIAALASGSFWFFSTPEV
ETTAVQEFQNQMNQLKNKYQGQDEKLWKRSQTFLEKHLNSSHPRSQPAILLLTAARDAEE
ALRCLSEQIADAYSSFRSVRAIRIDGTDKATQDSDTVKLEVDQELSNGFKNGQNAAVVHR
FESFPAGSTLIFYKYCDHENAAFKDVALVLTVLLEEETLGTSLGLKEVEEKVRDFLKVKF
TNSNTPNSYNHMDPDKLNGLWSRISHLVLPVQPENALKRGICL
NT seq 1752 nt NT seq  +upstreamnt  +downstreamnt
atggcgggcgacgggcggcgggcagaggcggtgcgggaaggatggggtgtgtacgtcacc
cccagggcccccatccgagagggaaggggccggctcgcccctcaaaatggcggcagcagc
gatgcgcctgcgtacagaactcctccgtcgcgccagggccggcgggaagtgaggttctcg
gacgagccgccagaagtgtacggcgacttcgagcccctggtggccaaagaaaggtccccg
gtgggaaaacgaacccggctagaagagttccggtccgattctgcgaaagaggaagtgaga
gaaagcgcgtactaccttcggtctaggcagcggaggcagccgcgaccccaggaaaccgag
gaaatgaagacgcgaaggactacccgccttcagcagcagcactcagagcagcctccgcta
cagccgtctcctgttatgaccaggagagggctgcgggactctcattcctctgaagaggat
gaagcatcttcccaaactgatttaagccaaacgatctcaaagaaaactgtcaggagcata
caagaggctccagtgagtgaagatcttgtaatcaggttacgtcgaccccctctaagatac
ccaagatatgaagccaccagtgtccaacagaaggtcaatttctctgaagaaggagaaact
gaagaagatgatcaagacagctctcacagcagtgtcactactgttaaggccagatccagg
gattctgatgaatctggagataaaaccaccagatcatctagtcaatatatagaatcattt
tggcagtcatcacaaagtcaaaacttcacagctcatgataagcaaccttcagtgctaagc
tcaggatatcaaaaaactccccaggaatgggccccacaaactgcaagaataaggaccagg
atgcaaaatgacagcattctgaaatcagagcttggaaaccagtcaccatcaacctccagc
cgacaagtgactggacaaccccaaaatgcatcttttgtcaagaggaaccggtggtggcta
cttcctctgatagctgctcttgcctctgggagtttttggttctttagtactcctgaggta
gaaaccactgctgttcaagagttccagaaccagatgaatcaacttaagaataagtaccaa
ggtcaagatgagaagctgtggaaaaggagccaaacattcctggaaaaacatcttaatagc
tcccatcctcggtctcagcctgctatcttactgctcactgctgcccgagatgctgaagaa
gcacttaggtgtctgagtgaacaaattgctgatgcctattcttcttttcgtagtgtccgt
gccatccggattgatgggacagataaagctactcaagacagtgatactgtcaaactagag
gtagaccaagaactgagcaatggatttaagaatggccagaatgcagctgtggtacaccgc
tttgagtcatttcccgcaggctctactttgatcttctacaaatattgtgaccatgaaaac
gcggccttcaaagatgtagccttagtcctgactgtcttattggaggaagagacacttgga
acaagtctaggcctaaaggaagttgaagaaaaagtaagagattttcttaaagtcaagttc
accaattctaacacacccaactcctacaatcatatggacccagacaaactgaatggcctc
tggagccgtatttctcacttagttctgcctgtgcaacctgaaaatgccctgaaaaggggc
atctgcttataa

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