KEGG   Homo sapiens (human): 26092
Entry
26092             CDS       T01001                                 
Symbol
TOR1AIP1, LAP1, LAP1B, LAP1C, LGMD2Y
Name
(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)
SSDB
Motif
Pfam: LAP1_C LAP1_N DUF5989
Other DBs
NCBI-GeneID: 26092
NCBI-ProteinID: NP_056417
OMIM: 614512
HGNC: 29456
Ensembl: ENSG00000143337
UniProt: Q5JTV8
Structure
Position
1:179882285..179920076
AA seq 583 aa
MAGDGRRAEAVREGWGVYVTPRAPIREGRGRLAPQNGGSSDAPAYRTPPSRQGRREVRFS
DEPPEVYGDFEPLVAKERSPVGKRTRLEEFRSDSAKEEVRESAYYLRSRQRRQPRPQETE
EMKTRRTTRLQQQHSEQPPLQPSPVMTRRGLRDSHSSEEDEASSQTDLSQTISKKTVRSI
QEAPVSEDLVIRLRRPPLRYPRYEATSVQQKVNFSEEGETEEDDQDSSHSSVTTVKARSR
DSDESGDKTTRSSSQYIESFWQSSQSQNFTAHDKQPSVLSSGYQKTPQEWAPQTARIRTR
MQNDSILKSELGNQSPSTSSRQVTGQPQNASFVKRNRWWLLPLIAALASGSFWFFSTPEV
ETTAVQEFQNQMNQLKNKYQGQDEKLWKRSQTFLEKHLNSSHPRSQPAILLLTAARDAEE
ALRCLSEQIADAYSSFRSVRAIRIDGTDKATQDSDTVKLEVDQELSNGFKNGQNAAVVHR
FESFPAGSTLIFYKYCDHENAAFKDVALVLTVLLEEETLGTSLGLKEVEEKVRDFLKVKF
TNSNTPNSYNHMDPDKLNGLWSRISHLVLPVQPENALKRGICL
NT seq 1752 nt   +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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Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (24)   
   KEGG ORTHOLOGY (1)   
   RefGene (15)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (4)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (27)   
   RefSeq(nuc) (3)   
   GenBank (12)   
   EMBL (12)   
3D Structure (1)   
   PDB (1)   
Protein domain (3)   
   Pfam (3)   
All databases (65)   

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