KEGG   Homo sapiens (human): 4010
Entry
4010              CDS       T01001                                 
Symbol
LMX1B, FSGS10, LMX1.2, NPS1
Name
(RefSeq) LIM homeobox transcription factor 1 beta
  KO
K09371  LIM homeobox transcription factor 1
Organism
hsa  Homo sapiens (human)
Disease
H00464  Nail-patella syndrome
H00626  Focal segmental glomerulosclerosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    4010 (LMX1B)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Helix-turn-helix
   Homeo domain LIM
    4010 (LMX1B)
SSDB
Motif
Pfam: LIM Homeodomain Homeobox_KN Dppa2_A HTH_32
Other DBs
NCBI-GeneID: 4010
NCBI-ProteinID: NP_001167618
OMIM: 602575
HGNC: 6654
Ensembl: ENSG00000136944
UniProt: O60663 Q6ISE0
Position
9:126613928..126701032
AA seq 402 aa
MDIATGPESLERCFPRGQTDCAKMLDGIKMEEHALRPGPATLGVLLGSDCPHPAVCEGCQ
RPISDRFLMRVNESSWHEECLQCAACQQALTTSCYFRDRKLYCKQDYQQLFAAKCSGCME
KIAPTEFVMRALECVYHLGCFCCCVCERQLRKGDEFVLKEGQLLCKGDYEKEKDLLSSVS
PDESDSVKSEDEDGDMKPAKGQGSQSKGSGDDGKDPRRPKRPRTILTTQQRRAFKASFEV
SSKPCRKVRETLAAETGLSVRVVQVWFQNQRAKMKKLARRHQQQQEQQNSQRLGQEVLSS
RMEGMMASYTPLAPPQQQIVAMEQSPYGSSDPFQQGLTPPQMPGDHMNPYGNDSIFHDID
SDTSLTSLSDCFLGSSDVGSLQARVGNPIDRLYSMQSSYFAS
NT seq 1209 nt   +upstreamnt  +downstreamnt
atggatatagcaacaggtcccgagtcgctggagaggtgcttccctcgcgggcagacggac
tgcgccaagatgttggacggcatcaagatggaggagcacgccctgcgccccgggcccgcc
actctgggggtgctgctgggctccgactgcccgcatcccgccgtctgcgagggctgccag
cggcccatctccgaccgcttcctgatgcgagtcaacgagtcgtcctggcacgaggagtgt
ttgcagtgcgcggcgtgtcagcaagccctcaccaccagctgctacttccgggatcggaaa
ctgtactgcaaacaagactaccaacagctcttcgcggccaagtgcagcggctgcatggag
aagatcgcccccaccgagttcgtgatgcgggcgctggagtgcgtgtaccacctgggctgc
ttctgctgctgcgtgtgtgaacggcagctacgcaagggcgacgaattcgtgctcaaggag
ggccagctgctgtgcaagggtgactacgagaaggagaaggacctgctcagctccgtgagc
cccgacgagtccgactccgtgaagagcgaggatgaagatggggacatgaagccggccaag
gggcagggcagtcagagcaagggcagcggggatgacgggaaggacccgcggaggcccaag
cgaccccggaccatcctcaccacgcagcagcgaagagccttcaaggcctccttcgaggtc
tcgtcgaagccttgccgaaaggtccgagagacactggcagctgagacgggcctcagtgtg
cgcgtggtccaggtctggtttcagaaccaaagagcaaagatgaagaagctggcgcggcgg
caccagcagcagcaggagcagcagaactcccagcggctgggccaggaggtcctgtccagc
cgcatggagggcatgatggcttcctacacgccgctggccccaccacagcagcagatcgtg
gccatggaacagagcccctacggcagcagcgaccccttccagcagggcctcacgccgccc
caaatgccaggtgaccacatgaacccctatgggaacgactccatcttccatgacatcgac
agcgatacctccttaaccagcctcagcgactgcttcctcggctcctcagacgtgggctcc
ctgcaggcccgcgtggggaaccccatcgaccggctctactccatgcagagttcctacttc
gcctcctga

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