KEGG   Homo sapiens (human): 4009
Entry
4009              CDS       T01001                                 
Symbol
LMX1A, DFNA7, LMX1, LMX1.1
Name
(RefSeq) LIM homeobox transcription factor 1 alpha
  KO
K09371  LIM homeobox transcription factor 1
Organism
hsa  Homo sapiens (human)
Disease
H00604  Deafness, autosomal dominant
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    4009 (LMX1A)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Helix-turn-helix
   Homeo domain LIM
    4009 (LMX1A)
SSDB
Motif
Pfam: LIM Homeodomain Homeobox_KN
Other DBs
NCBI-GeneID: 4009
NCBI-ProteinID: NP_001167540
OMIM: 600298
HGNC: 6653
Ensembl: ENSG00000162761
UniProt: Q8TE12
Structure
Position
1:complement(165201867..165356715)
AA seq 382 aa
MLDGLKMEENFQSAIDTSASFSSLLGRAVSPKSVCEGCQRVILDRFLLRLNDSFWHEQCV
QCASCKEPLETTCFYRDKKLYCKYDYEKLFAVKCGGCFEAIAPNEFVMRAQKSVYHLSCF
CCCVCERQLQKGDEFVLKEGQLLCKGDYEKERELLSLVSPAASDSGKSDDEESLCKSAHG
AGKGTAEEGKDHKRPKRPRTILTTQQRRAFKASFEVSSKPCRKVRETLAAETGLSVRVVQ
VWFQNQRAKMKKLARRQQQQQQDQQNTQRLSSAQTNGGGSAGMEGIMNPYTALPTPQQLL
AIEQSVYSSDPFRQGLTPPQMPGDHMHPYGAEPLFHDLDSDDTSLSNLGDCFLATSEAGP
LQSRVGNPIDHLYSMQNSYFTS
NT seq 1149 nt   +upstreamnt  +downstreamnt
atgctggacggcctaaagatggaggagaacttccaaagcgcgatcgacacctcggcctcc
ttctcctcgctgctgggcagagcggtgagccccaagtctgtctgcgagggctgtcagcgg
gtcatcttggacaggtttctgctgcggctcaacgacagcttctggcatgagcagtgcgtg
cagtgcgcctcctgcaaagagcccctggagaccacctgcttctaccgggacaagaagctg
tactgcaagtatgactacgagaagctgtttgctgttaaatgtgggggctgcttcgaggcc
atcgctcccaatgagtttgttatgcgggcccagaagagtgtataccacctgagctgcttc
tgctgctgtgtctgcgagcgacagcttcagaagggtgatgagtttgtcctgaaggagggg
cagctgctctgcaaaggggactatgagaaggagcgggagctgctcagcctggtgagccca
gcagcctcagactcaggtaaaagtgatgatgaagaaagtctctgcaagtcagcccatggg
gcagggaaaggaactgctgaggaaggcaaggaccataagcgccccaaacgtccgagaacc
atcttgacaactcaacagaggcgagcattcaaggcctcatttgaagtatcctccaagccc
tgcaggaaggtgagagagactctggctgcagagacagggctgagtgtccgtgtcgtccag
gtgtggttccaaaaccagagagcgaagatgaagaagctggccaggcgacagcagcagcag
cagcaagatcagcagaacacccagaggctgagctctgctcagacaaacggtggtgggagt
gctgggatggaaggaatcatgaacccctacacggctctgcccaccccacagcagctcctg
gccatcgagcagagtgtctacagctcagatcccttccgacagggtctcaccccaccccag
atgcctggagaccacatgcacccttatggtgccgagccccttttccatgacctggatagc
gacgacacctccctcagtaacctgggtgattgtttcctagcaacctcagaagctgggcct
ctgcagtccagagtgggaaaccccattgaccatctgtactccatgcagaattcttacttc
acatcttga

  All links  
Disease (2)   
   OMIM (2)   
Gene (9)   
   RefGene (1)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (8)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (6)   
DNA sequence (20)   
   RefSeq(nuc) (8)   
   GenBank (6)   
   EMBL (6)   
3D Structure (3)   
   PDB (3)   
Protein domain (3)   
   Pfam (3)   
All databases (45)   

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