KEGG   Homo sapiens (human): 64327
Entry
64327             CDS       T01001                                 
Symbol
LMBR1, ACHP, C7orf2, DIF14, LSS, PPD2, THYP, TPT, ZRS
Name
(RefSeq) limb development membrane protein 1
  KO
K25217  limb region 1 protein
Organism
hsa  Homo sapiens (human)
Disease
H00629  Acheiropodia
H00855  Triphalangeal thumb-polysyndactyly syndrome
H01095  Syndactyly
H02332  Preaxial polydactyly
H02333  Laurin-Sandrow syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    64327 (LMBR1)
Membrane trafficking [BR:hsa04131]
 Endocytosis
  Clathrin-mediated endocytosis
   Others
    64327 (LMBR1)
SSDB
Motif
Pfam: LMBR1 Sigma_reg_N Orf78 DrrA_P4M PrsW-protease
Other DBs
NCBI-GeneID: 64327
NCBI-ProteinID: NP_071903
OMIM: 605522
HGNC: 13243
Ensembl: ENSG00000105983
Pharos: Q8WVP7(Tbio)
UniProt: Q8WVP7
LinkDB
Position
7:complement(156669012..156893183)
AA seq 490 aa
MEGQDEVSAREQHFHSQVRESTICFLLFAILYVVSYFIITRYKRKSDEQEDEDAIVNRIS
LFLSTFTLAVSAGAVLLLPFSIISNEILLSFPQNYYIQWLNGSLIHGLWNLASLFSNLCL
FVLMPFAFFFLESEGFAGLKKGIRARILETLVMLLLLALLILGIVWVASALIDNDAASME
SLYDLWEFYLPYLYSCISLMGCLLLLLCTPVGLSRMFTVMGQLLVKPTILEDLDEQIYII
TLEEEALQRRLNGLSSSVEYNIMELEQELENVKTLKTKLERRKKASAWERNLVYPAVMVL
LLIETSISVLLVACNILCLLVDETAMPKGTRGPGIGNASLSTFGFVGAALEIILIFYLMV
SSVVGFYSLRFFGNFTPKKDDTTMTKIIGNCVSILVLSSALPVMSRTLGITRFDLLGDFG
RFNWLGNFYIVLSYNLLFAIVTTLCLVRKFTSAVREELFKALGLHKLHLPNTSRDSETAK
PSVNGHQKAL
NT seq 1473 nt   +upstreamnt  +downstreamnt
atggaagggcaggacgaggtgtcggcgcgggagcagcacttccacagccaagtgcgggag
tccacgatatgtttccttctttttgccattctctacgttgtttcctacttcatcatcaca
agatacaagagaaaatcagatgaacaagaagatgaagatgccatcgtcaacaggatttcg
ttgtttttgagcacgttcactctcgcagtgtcagctggggctgttttgcttttacccttc
tcaatcatcagcaatgaaatcctgctttcttttcctcagaactactatattcagtggcta
aatggctccctgattcatggtttgtggaatcttgcttcccttttttccaacctttgttta
tttgtattgatgccctttgcctttttctttctggaatcagaaggctttgctggcctgaaa
aagggaatccgagcccgcattttagagactttggtcatgcttcttcttcttgcgttactc
attcttgggatagtgtgggtagcttcagcactcattgacaacgatgccgcaagcatggaa
tctttatatgatctctgggagttctatctaccctatttatattcctgtatatcattgatg
ggatgtttgttacttctcttgtgtacaccagttggcctttctcgtatgttcacagtgatg
ggtcagttgctagtgaagccaacaattcttgaagacctggatgaacaaatttatatcatt
accttagaggaagaagcactccagagacgactaaatgggctgtcttcatcggtggaatac
aacataatggagttggaacaagaacttgaaaatgtaaagactcttaagacaaaattagag
aggcgaaaaaaggcttcagcatgggaaagaaatttggtgtatcccgctgttatggttctc
cttcttattgagacatccatctcggtcctcttggtggcttgtaatattctttgcctattg
gttgatgaaacagcaatgccaaaaggaacaagggggcctggaataggaaatgcctctctt
tctacgtttggttttgtgggagctgcgcttgaaatcattttgattttctatcttatggtg
tcctctgttgtcggcttctatagccttcgattttttggaaactttactcccaagaaagat
gacacaactatgacaaagatcattggaaattgtgtgtccatcttggttttgagctctgct
ctgcctgtgatgtcgagaacactgggaatcactagatttgatctacttggcgactttgga
aggtttaattggctgggaaatttctatattgtattatcctacaatttgctttttgctatt
gtgacaacattgtgtctggtccgaaaattcacctctgcagttcgagaagaacttttcaag
gccctagggcttcataaacttcacttaccaaatacttcaagggattcagaaacagccaag
ccttctgtaaatgggcatcagaaagcactgtga

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