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

Gene name
LMNA, CDCD1, CDDC, CMD1A, CMT2B1, EMD2, FPL, FPLD, FPLD2, HGPS, IDC, LDP1, LFP, LGMD1B, LMN1, LMNC, LMNL1, MADA, PRO1
Definition
(RefSeq) lamin A/C
  KO
K12641  lamin A/C
Organism
hsa  Homo sapiens (human)
Pathway
hsa04210  Apoptosis
hsa05410  Hypertrophic cardiomyopathy
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
hsa05414  Dilated cardiomyopathy
Disease
H00264  Charcot-Marie-Tooth disease
H00294  Dilated cardiomyopathy
H00420  Familial partial lipodystrophy
H00563  Emery-Dreifuss muscular dystrophy
H00590  Congenital muscular dystrophies (CMD/MDC)
H00601  Hutchinson-Gilford progeria syndrome
H00663  Restrictive dermopathy
H00665  Mandibuloacral dysplasia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09143 Cell growth and death
   04210 Apoptosis
    4000 (LMNA)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    4000 (LMNA)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    4000 (LMNA)
   05414 Dilated cardiomyopathy
    4000 (LMNA)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    4000 (LMNA)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Intermediate filaments
   Intermediate filaments
    Type V: Nuclear lamins
     4000 (LMNA)
SSDB
Motif
Pfam: Filament LTD TPR_MLP1_2 ATG16 HAUS-augmin3 Fez1 TolA_bind_tri Crescentin CENP-F_leu_zip Tht1
Other DBs
NCBI-GeneID: 4000
NCBI-ProteinID: NP_733821
OMIM: 150330
HGNC: 6636
Ensembl: ENSG00000160789
Vega: OTTHUMG00000013961
Pharos: P02545(Tbio)
UniProt: P02545 A0A384MQX1
Structure
PDB: 

Position
1q22
AA seq 664 aa
METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLR
LRITESEEVVSREVSGIKAAYEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARN
TKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAKLEAALGEAK
KQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESR
LADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRID
SLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQ
ELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRK
LESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLT
YRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAM
RKLVRSVTVVEDDEDEDGDDLLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASA
SGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDNLVTRSYLLGNSSPRTQSPQN
CSIM
NT seq 1995 nt   +upstreamnt  +downstreamnt
atggagaccccgtcccagcggcgcgccacccgcagcggggcgcaggccagctccactccg
ctgtcgcccacccgcatcacccggctgcaggagaaggaggacctgcaggagctcaatgat
cgcttggcggtctacatcgaccgtgtgcgctcgctggaaacggagaacgcagggctgcgc
cttcgcatcaccgagtctgaagaggtggtcagccgcgaggtgtccggcatcaaggccgcc
tacgaggccgagctcggggatgcccgcaagacccttgactcagtagccaaggagcgcgcc
cgcctgcagctggagctgagcaaagtgcgtgaggagtttaaggagctgaaagcgcgcaat
accaagaaggagggtgacctgatagctgctcaggctcggctgaaggacctggaggctctg
ctgaactccaaggaggccgcactgagcactgctctcagtgagaagcgcacgctggagggc
gagctgcatgatctgcggggccaggtggccaagcttgaggcagccctaggtgaggccaag
aagcaacttcaggatgagatgctgcggcgggtggatgctgagaacaggctgcagaccatg
aaggaggaactggacttccagaagaacatctacagtgaggagctgcgtgagaccaagcgc
cgtcatgagacccgactggtggagattgacaatgggaagcagcgtgagtttgagagccgg
ctggcggatgcgctgcaggaactgcgggcccagcatgaggaccaggtggagcagtataag
aaggagctggagaagacttattctgccaagctggacaatgccaggcagtctgctgagagg
aacagcaacctggtgggggctgcccacgaggagctgcagcagtcgcgcatccgcatcgac
agcctctctgcccagctcagccagctccagaagcagctggcagccaaggaggcgaagctt
cgagacctggaggactcactggcccgtgagcgggacaccagccggcggctgctggcggaa
aaggagcgggagatggccgagatgcgggcaaggatgcagcagcagctggacgagtaccag
gagcttctggacatcaagctggccctggacatggagatccacgcctaccgcaagctcttg
gagggcgaggaggagaggctacgcctgtcccccagccctacctcgcagcgcagccgtggc
cgtgcttcctctcactcatcccagacacagggtgggggcagcgtcaccaaaaagcgcaaa
ctggagtccactgagagccgcagcagcttctcacagcacgcacgcactagcgggcgcgtg
gccgtggaggaggtggatgaggagggcaagtttgtccggctgcgcaacaagtccaatgag
gaccagtccatgggcaattggcagatcaagcgccagaatggagatgatcccttgctgact
taccggttcccaccaaagttcaccctgaaggctgggcaggtggtgacgatctgggctgca
ggagctggggccacccacagcccccctaccgacctggtgtggaaggcacagaacacctgg
ggctgcgggaacagcctgcgtacggctctcatcaactccactggggaagaagtggccatg
cgcaagctggtgcgctcagtgactgtggttgaggacgacgaggatgaggatggagatgac
ctgctccatcaccaccacggctcccactgcagcagctcgggggaccccgctgagtacaac
ctgcgctcgcgcaccgtgctgtgcgggacctgcgggcagcctgccgacaaggcatctgcc
agcggctcaggagcccaggtgggcggacccatctcctctggctcttctgcctccagtgtc
acggtcactcgcagctaccgcagtgtggggggcagtgggggtggcagcttcggggacaat
ctggtcacccgctcctacctcctgggcaactccagcccccgaacccagagcccccagaac
tgcagcatcatgtaa

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Ontology (2)   
   KEGG BRITE (2)   
Pathway (4)   
   KEGG PATHWAY (4)   
Disease (20)   
   KEGG DISEASE (8)   
   OMIM (12)   
Genome (1)   
   KEGG GENOME (1)   
Gene (36)   
   KEGG ORTHOLOGY (1)   
   RefGene (7)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (21)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (12)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (9)   
DNA sequence (90)   
   RefSeq(nuc) (10)   
   GenBank (40)   
   EMBL (40)   
Protein domain (10)   
   Pfam (10)   
All databases (175)   

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