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, MADA, PRO1
Definition
(RefSeq) lamin A/C
  KO
K12641  lamin A/C
Organism
hsa  Homo sapiens (human)
Pathway
hsa04210  Apoptosis
hsa05410  Hypertrophic cardiomyopathy (HCM)
hsa05412  Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414  Dilated cardiomyopathy (DCM)
Network
  Element
N00328  Cleavage of prelamin A
N00329  Mutation-caused aberrant LMNA to cleavage of prelimin A
Disease
H00264  Charcot-Marie-Tooth disease
H00294  Dilated cardiomyopathy
H00420  Familial partial lipodystrophy
H00563  Emery-Dreifuss muscular dystrophy
H00590  Congenital muscular dystrophies (CMD/MDC)
H00593  Limb-girdle muscular dystrophy
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 (HCM)
    4000 (LMNA)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    4000 (LMNA)
   05414 Dilated cardiomyopathy (DCM)
    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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Filament LTD TPR_MLP1_2 Fez1 ATG16 TolA_bind_tri CENP-F_leu_zip Tht1
Motif
Other DBs
NCBI-GeneID: 4000
NCBI-ProteinID: NP_733821
OMIM: 150330
HGNC: 6636
Ensembl: ENSG00000160789
Vega: OTTHUMG00000013961
Pharos: P02545(Tbio)
UniProt: P02545 A0A384MQX1
LinkDB All DBs
Structure
PDB: 

Position
1q22
AA seq 664 aa AA seqDB search
METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLR
LRITESEEVVSREVSGIKAAYEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARN
TKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAKLEAALGEAK
KQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESR
LADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRID
SLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQ
ELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRK
LESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLT
YRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAM
RKLVRSVTVVEDDEDEDGDDLLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASA
SGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDNLVTRSYLLGNSSPRTQSPQN
CSIM
NT seq 1995 nt NT seq  +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

KEGG   Homo sapiens (human): 4001Help
Entry
4001              CDS       T01001                                 

Gene name
LMNB1, ADLD, LMN, LMN2, LMNB
Definition
(RefSeq) lamin B1
  KO
K07611  lamin B
Organism
hsa  Homo sapiens (human)
Pathway
hsa04210  Apoptosis
Disease
H01230  Adult-onset autosomal dominant leukodystrophy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09143 Cell growth and death
   04210 Apoptosis
    4001 (LMNB1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    4001 (LMNB1)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Intermediate filaments
   Intermediate filaments
    Type V: Nuclear lamins
     4001 (LMNB1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Filament LTD Jnk-SapK_ap_N Spc7
Motif
Other DBs
NCBI-GeneID: 4001
NCBI-ProteinID: NP_005564
OMIM: 150340
HGNC: 6637
Ensembl: ENSG00000113368
Vega: OTTHUMG00000128969
Pharos: P20700(Tbio)
UniProt: P20700
LinkDB All DBs
Structure
PDB: 

Position
5q23.2
AA seq 586 aa AA seqDB search
MATATPVPPRMGSRAGGPTTPLSPTRLSRLQEKEELRELNDRLAVYIDKVRSLETENSAL
QLQVTEREEVRGRELTGLKALYETELADARRALDDTARERAKLQIELGKCKAEHDQLLLN
YAKKESDLNGAQIKLREYEAALNSKDAALATALGDKKSLEGDLEDLKDQIAQLEASLAAA
KKQLADETLLKVDLENRCQSLTEDLEFRKSMYEEEINETRRKHETRLVEVDSGRQIEYEY
KLAQALHEMREQHDAQVRLYKEELEQTYHAKLENARLSSEMNTSTVNSAREELMESRMRI
ESLSSQLSNLQKESRACLERIQELEDLLAKEKDNSRRMLTDKEREMAEIRDQMQQQLNDY
EQLLDVKLALDMEISAYRKLLEGEEERLKLSPSPSSRVTVSRASSSRSVRTTRGKRKRVD
VEESEASSSVSISHSASATGNVCIEEIDVDGKFIRLKNTSEQDQPMGGWEMIRKIGDTSV
SYKYTSRYVLKAGQTVTIWAANAGVTASPPTDLIWKNQNSWGTGEDVKVILKNSQGEEVA
QRSTVFKTTIPEEEEEEEEAAGVVVEEELFHQQGTPRASNRSCAIM
NT seq 1761 nt NT seq  +upstreamnt  +downstreamnt
atggcgactgcgacccccgtgccgccgcggatgggcagccgcgctggcggccccaccacg
ccgctgagccccacgcgcctgtcgcggctccaggagaaggaggagctgcgcgagctcaat
gaccggctggcggtgtacatcgacaaggtgcgcagcctggagacggagaacagcgcgctg
cagctgcaggtgacggagcgcgaggaggtgcgcggccgtgagctcaccggcctcaaggcg
ctctacgagaccgagctggccgacgcgcgacgcgcgctcgacgacacggcccgcgagcgc
gccaagctgcagatcgagctgggcaagtgcaaggcggaacacgaccagctgctcctcaac
tatgctaagaaggaatctgatcttaatggcgcccagatcaagcttcgagaatatgaagca
gcactgaattcgaaagatgcagctcttgctactgcacttggtgacaaaaaaagtttagag
ggagatttggaggatctgaaggatcagattgcccagttggaagcctccttagctgcagcc
aaaaaacagttagcagatgaaactttacttaaagtagatttggagaatcgttgtcagagc
cttactgaggacttggagtttcgcaaaagcatgtatgaagaggagattaacgagaccaga
aggaagcatgaaacgcgcttggtagaggtggattctgggcgtcaaattgagtatgagtac
aagctggcgcaagcccttcatgagatgagagagcaacatgatgcccaagtgaggctgtat
aaggaggagctggagcagacttaccatgccaaacttgagaatgccagactgtcatcagag
atgaatacttctactgtcaacagtgccagggaagaactgatggaaagccgcatgagaatt
gagagcctttcatcccagctttctaatctacagaaagagtctagagcatgtttggaaagg
attcaagaattagaggacttgcttgctaaagaaaaagacaactctcgtcgcatgctgaca
gacaaagagagagagatggcggaaataagggatcaaatgcagcaacagctgaatgactat
gaacagcttcttgatgtaaagttagccctggacatggaaatcagtgcttacaggaaactc
ttagaaggcgaagaagagaggttgaagctgtctccaagcccttcttcccgtgtgacagta
tcccgagcatcctcaagtcgtagtgtacgtacaactagaggaaagcggaagagggttgat
gtggaagaatcagaggcgagtagtagtgttagcatctctcattccgcctcagccactgga
aatgtttgcatcgaagaaattgatgttgatgggaaatttatccgcttgaagaacacttct
gaacaggatcaaccaatgggaggctgggagatgatcagaaaaattggagacacatcagtc
agttataaatatacctcaagatatgtgctgaaggcaggccagactgttacaatttgggct
gcaaacgctggtgtcacagccagccccccaactgacctcatctggaagaaccagaactcg
tggggcactggcgaagatgtgaaggttatattgaaaaattctcagggagaggaggttgct
caaagaagtacagtctttaaaacaaccatacctgaagaagaggaggaggaggaagaagca
gctggagtggttgttgaggaagaacttttccaccagcagggaaccccaagagcatccaat
agaagctgtgcaattatgtaa

KEGG   Homo sapiens (human): 84823Help
Entry
84823             CDS       T01001                                 

Gene name
LMNB2, EPM9, LAMB2, LMN2
Definition
(RefSeq) lamin B2
  KO
K07611  lamin B
Organism
hsa  Homo sapiens (human)
Pathway
hsa04210  Apoptosis
Disease
H00420  Familial partial lipodystrophy
H00810  Progressive myoclonic epilepsy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09143 Cell growth and death
   04210 Apoptosis
    84823 (LMNB2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    84823 (LMNB2)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Intermediate filaments
   Intermediate filaments
    Type V: Nuclear lamins
     84823 (LMNB2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Filament LTD BRE1
Motif
Other DBs
NCBI-GeneID: 84823
NCBI-ProteinID: NP_116126
OMIM: 150341
HGNC: 6638
Ensembl: ENSG00000176619
Vega: OTTHUMG00000150626
Pharos: Q03252(Tbio)
UniProt: Q03252
LinkDB All DBs
Structure
PDB: 

Position
19p13.3
AA seq 620 aa AA seqDB search
MSPPSPGRRREQRRPRAAATMATPLPGRAGGPATPLSPTRLSRLQEKEELRELNDRLAHY
IDRVRALELENDRLLLKISEKEEVTTREVSGIKALYESELADARRVLDETARERARLQIE
IGKLRAELDEVNKSAKKREGELTVAQGRVKDLESLFHRSEVELAAALSDKRGLESDVAEL
RAQLAKAEDGHAVAKKQLEKETLMRVDLENRCQSLQEELDFRKSVFEEEVRETRRRHERR
LVEVDSSRQQEYDFKMAQALEELRSQHDEQVRLYKLELEQTYQAKLDSAKLSSDQNDKAA
SAAREELKEARMRLESLSYQLSGLQKQASAAEDRIRELEEAMAGERDKFRKMLDAKEQEM
TEMRDVMQQQLAEYQELLDVKLALDMEINAYRKLLEGEEERLKLSPSPSSRVTVSRATSS
SSGSLSATGRLGRSKRKRLEVEEPLGSGPSVLGTGTGGSGGFHLAQQASASGSVSIEEID
LEGKFVQLKNNSDKDQSLGNWRIKRQVLEGEEIAYKFTPKYILRAGQMVTVWAAGAGVAH
SPPSTLVWKGQSSWGTGESFRTVLVNADGEEVAMRTVKKSSVMRENENGEEEEEEAEFGE
EDLFHQQGDPRTTSRGCYVM
NT seq 1863 nt NT seq  +upstreamnt  +downstreamnt
atgagcccgccgagcccgggccgccgtcgggagcagcgcaggccgcgagccgccgccacc
atggccacgccgctgcccggccgcgcgggcgggcccgccacgccgctgtcgcccacgcgc
ctgtcgcggctgcaggagaaggaggagctgcgcgagctcaacgaccgcctggcgcactac
atcgaccgcgtccgcgcgctggagctggagaacgaccggctcctgctcaagatctcagag
aaggaggaggtgaccacgcgcgaggtgagtggcatcaaggcgctgtacgagtcggagctg
gccgatgcccggagagtcctggatgagacggctcgagagcgtgcccggctgcagatagag
attgggaagctgagggcagagttggacgaggtcaacaagagcgccaagaagagggagggc
gagcttacggtggcccagggccgtgtgaaggacctggagtccctgttccaccggagcgag
gtggagctggcagctgccctcagcgacaagcgcggcctggagagtgacgtggctgagctg
cgggcccagctggccaaggccgaggacggtcatgcagtggccaaaaagcagctggagaag
gagacgctgatgcgtgtggacctggagaaccgctgccagagcctgcaggaggagctggac
ttccggaagagtgtgttcgaggaggaggtgcgggagacgcggcggcggcacgagcggcgc
ctggtggaggtggacagcagccggcagcaggagtacgacttcaagatggcacaggcgctg
gaggagctgcggagccagcacgacgagcaagtgcggctctacaagctggagctggagcag
acctaccaggccaagctggacagcgccaagctgagctctgaccagaacgacaaggcggcc
agtgcggctcgcgaggagctgaaggaggcccgcatgcgcctggagtccctcagctaccag
ctctccggcctccagaagcaggccagtgccgctgaagatcgcattcgggagctggaggag
gccatggccggggagcgggacaagttccggaagatgctggacgccaaggagcaggagatg
acggagatgcgggacgtgatgcagcagcagctggccgagtaccaggagctgctggacgtg
aagctggccctggacatggagatcaacgcctaccggaagctcctggagggcgaggaggag
aggctgaagctgtcccccagcccatcctcgcgcgtcaccgtctcacgagccacctcgagc
agcagcggcagcttgtccgccaccgggcgcctgggccgcagtaagcggaagcggctggag
gtggaggagcccttgggcagcggcccaagcgtcctgggcacgggcacgggtggcagcggt
ggcttccacctggcccagcaggcctcggcctcgggtagcgtcagcatcgaggagatcgac
ctggagggcaagtttgtgcagctcaagaacaactcggacaaggatcagtctctggggaac
tggagaatcaagaggcaggtcttggagggggaggagatcgcctacaagttcacgcccaag
tacatcctgcgcgccggccagatggtcacggtgtgggcagctggtgcgggggtggcccac
agccccccctcgacgctggtgtggaagggccagagcagctggggcacgggcgagagcttc
cgcaccgtcctggttaacgcggatggcgaggaagtggccatgaggactgtgaagaagtcc
tcggtgatgcgtgagaatgagaatggggaggaagaggaggaggaagccgagtttggcgag
gaggatcttttccaccaacagggggacccgaggaccacctcaagaggctgctacgtgatg
tga

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