Homo sapiens (human): 64327
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Entry
64327 CDS
T01001
Symbol
LMBR1, ACHP, C7orf2, DIF14, LSS, PPD2, THYP, TPT, TPTPS, 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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
LMBR1
Orf78
DUF2921
DrrA_P4M
Motif
Other DBs
NCBI-GeneID:
64327
NCBI-ProteinID:
NP_071903
OMIM:
605522
HGNC:
13243
Ensembl:
ENSG00000105983
UniProt:
Q8WVP7
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Position
7:complement(156669012..156893183)
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AA seq
490 aa
AA seq
DB search
MEGQDEVSAREQHFHSQVRESTICFLLFAILYVVSYFIITRYKRKSDEQEDEDAIVNRIS
LFLSTFTLAVSAGAVLLLPFSIISNEILLSFPQNYYIQWLNGSLIHGLWNLASLFSNLCL
FVLMPFAFFFLESEGFAGLKKGIRARILETLVMLLLLALLILGIVWVASALIDNDAASME
SLYDLWEFYLPYLYSCISLMGCLLLLLCTPVGLSRMFTVMGQLLVKPTILEDLDEQIYII
TLEEEALQRRLNGLSSSVEYNIMELEQELENVKTLKTKLERRKKASAWERNLVYPAVMVL
LLIETSISVLLVACNILCLLVDETAMPKGTRGPGIGNASLSTFGFVGAALEIILIFYLMV
SSVVGFYSLRFFGNFTPKKDDTTMTKIIGNCVSILVLSSALPVMSRTLGITRFDLLGDFG
RFNWLGNFYIVLSYNLLFAIVTTLCLVRKFTSAVREELFKALGLHKLHLPNTSRDSETAK
PSVNGHQKAL
NT seq
1473 nt
NT seq
+upstream
nt +downstream
nt
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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