KEGG   Homo sapiens (human): 4000Help
Entry
4000              CDS       T01001                                 

Gene name
LMNA, CDCD1, CDDC, CMD1A, CMT2B1, EMD2, FPL, FPLD, FPLD2, HGPS, IDC, LDP1, LFP, LGMD1B, LMN1, LMNC, LMNL1, PRO1
Definition
lamin A/C
Orthology
K12641  
lamin A/C
Organism
hsa  Homo sapiens (human)
Pathway
Hypertrophic cardiomyopathy (HCM)
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Dilated cardiomyopathy
Disease
H00264  
Charcot-Marie-Tooth disease (CMT)
H00294  
Dilated cardiomyopathy (DCM)
H00420  
Familial partial lipodystrophy (FPL)
H00563  
Emery-Dreifuss muscular dystrophy
H00590  
Congenital muscular dystrophies (CMD/MDC)
H00593  
Limb-girdle muscular dystrophy (LGMD)
H00601  
Hutchinson-Gilford progeria syndrome
H00663  
Restrictive dermopathy
H00665  
Mandibuloacral dysplasia
H01216  
Left ventricular noncompaction (LVNC)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Human Diseases
  Cardiovascular diseases
   05410 Hypertrophic cardiomyopathy (HCM)
    4000 (LMNA)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    4000 (LMNA)
   05414 Dilated cardiomyopathy (DCM)
    4000 (LMNA)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
LinkDB All DBs
Structure
PDB: 

Jmol
Position
1q22
AA seq 574 aa AA seqDB search
MGNSEGCNTKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAKL
EAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNG
KQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEEL
QQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARM
QQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGG
GSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQ
NGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALIN
STGEEVAMRKLVRSVTVVEDDEDEDGDDLLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCG
QPADKASASGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDNLVTRSYLLGNSS
PRTQSPQNCSIIQEMGMRWEVEEGRRKVSLSCLP
NT seq 1725 nt NT seq  +upstreamnt  +downstreamnt
atggggaactctgagggctgcaataccaagaaggagggtgacctgatagctgctcaggct
cggctgaaggacctggaggctctgctgaactccaaggaggccgcactgagcactgctctc
agtgagaagcgcacgctggagggcgagctgcatgatctgcggggccaggtggccaagctt
gaggcagccctaggtgaggccaagaagcaacttcaggatgagatgctgcggcgggtggat
gctgagaacaggctgcagaccatgaaggaggaactggacttccagaagaacatctacagt
gaggagctgcgtgagaccaagcgccgtcatgagacccgactggtggagattgacaatggg
aagcagcgtgagtttgagagccggctggcggatgcgctgcaggaactgcgggcccagcat
gaggaccaggtggagcagtataagaaggagctggagaagacttattctgccaagctggac
aatgccaggcagtctgctgagaggaacagcaacctggtgggggctgcccacgaggagctg
cagcagtcgcgcatccgcatcgacagcctctctgcccagctcagccagctccagaagcag
ctggcagccaaggaggcgaagcttcgagacctggaggactcactggcccgtgagcgggac
accagccggcggctgctggcggaaaaggagcgggagatggccgagatgcgggcaaggatg
cagcagcagctggacgagtaccaggagcttctggacatcaagctggccctggacatggag
atccacgcctaccgcaagctcttggagggcgaggaggagaggctacgcctgtcccccagc
cctacctcgcagcgcagccgtggccgtgcttcctctcactcatcccagacacagggtggg
ggcagcgtcaccaaaaagcgcaaactggagtccactgagagccgcagcagcttctcacag
cacgcacgcactagcgggcgcgtggccgtggaggaggtggatgaggagggcaagtttgtc
cggctgcgcaacaagtccaatgaggaccagtccatgggcaattggcagatcaagcgccag
aatggagatgatcccttgctgacttaccggttcccaccaaagttcaccctgaaggctggg
caggtggtgacgatctgggctgcaggagctggggccacccacagcccccctaccgacctg
gtgtggaaggcacagaacacctggggctgcgggaacagcctgcgtacggctctcatcaac
tccactggggaagaagtggccatgcgcaagctggtgcgctcagtgactgtggttgaggac
gacgaggatgaggatggagatgacctgctccatcaccaccacggctcccactgcagcagc
tcgggggaccccgctgagtacaacctgcgctcgcgcaccgtgctgtgcgggacctgcggg
cagcctgccgacaaggcatctgccagcggctcaggagcccaggtgggcggacccatctcc
tctggctcttctgcctccagtgtcacggtcactcgcagctaccgcagtgtggggggcagt
gggggtggcagcttcggggacaatctggtcacccgctcctacctcctgggcaactccagc
ccccgaacccagagcccccagaactgcagcatcatacaagagatgggaatgaggtgggag
gtggaagaagggagaagaaaggtgagtttgagctgccttccctag

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