KEGG   Homo sapiens (human): 64327Help
Entry
64327             CDS       T01001                                 

Gene name
LMBR1, ACHP, C7orf2, DIF14, LSS, PPD2, THYP, TPT, ZRS
Definition
(RefSeq) limb development membrane protein 1
Organism
hsa  Homo sapiens (human)
Disease
H00629  Acheiropodia
H00855  Triphalangeal thumb-polysyndactyly syndrome
H01095  Syndactyly
H02332  Preaxial polydactyly
H02333  Laurin-Sandrow syndrome
SSDB OrthologParalogGFIT
Motif
Pfam: LMBR1 Sigma_reg_N Orf78 DrrA_P4M PrsW-protease
Motif
Other DBs
NCBI-GeneID: 64327
NCBI-ProteinID: NP_071903
OMIM: 605522
HGNC: 13243
Ensembl: ENSG00000105983
Vega: OTTHUMG00000151510
Pharos: Q8WVP7(Tbio)
UniProt: Q8WVP7
Position
7q36.3
AA seq 490 aa AA seqDB search
MEGQDEVSAREQHFHSQVRESTICFLLFAILYVVSYFIITRYKRKSDEQEDEDAIVNRIS
LFLSTFTLAVSAGAVLLLPFSIISNEILLSFPQNYYIQWLNGSLIHGLWNLASLFSNLCL
FVLMPFAFFFLESEGFAGLKKGIRARILETLVMLLLLALLILGIVWVASALIDNDAASME
SLYDLWEFYLPYLYSCISLMGCLLLLLCTPVGLSRMFTVMGQLLVKPTILEDLDEQIYII
TLEEEALQRRLNGLSSSVEYNIMELEQELENVKTLKTKLERRKKASAWERNLVYPAVMVL
LLIETSISVLLVACNILCLLVDETAMPKGTRGPGIGNASLSTFGFVGAALEIILIFYLMV
SSVVGFYSLRFFGNFTPKKDDTTMTKIIGNCVSILVLSSALPVMSRTLGITRFDLLGDFG
RFNWLGNFYIVLSYNLLFAIVTTLCLVRKFTSAVREELFKALGLHKLHLPNTSRDSETAK
PSVNGHQKAL
NT seq 1473 nt NT seq  +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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