KEGG   Homo sapiens (human): 3930
Entry
3930              CDS       T01001                                 
Symbol
LBR, C14SR, DHCR14B, LMN2R, PHA, PHASK, TDRD18
Name
(RefSeq) lamin B receptor
  KO
K19532  Delta14-sterol reductase (lamin-B receptor) [EC:1.3.1.70]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00100  Steroid biosynthesis
hsa01100  Metabolic pathways
hsa04820  Cytoskeleton in muscle cells
Module
hsa_M00101  Cholesterol biosynthesis, FPP => cholesterol
Network
nt06034  Cholesterol biosynthesis
  Element
N01624  Cholesterol biosynthesis
Disease
H00234  Pelger-Huet anomaly
H00447  HEM skeletal dysplasia
H01133  Reynolds syndrome
H02732  Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09103 Lipid metabolism
   00100 Steroid biosynthesis
    3930 (LBR)
 09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    3930 (LBR)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    3930 (LBR)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.3  Acting on the CH-CH group of donors
   1.3.1  With NAD+ or NADP+ as acceptor
    1.3.1.70  Delta14-sterol reductase
     3930 (LBR)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Heterochromatin formation proteins
   Other heterochromatin formation proteins
    3930 (LBR)
SSDB
Motif
Pfam: ERG4_ERG24 LBR_tudor DUF1295 ICMT PTM_DIR17_Tudor PEMT Tudor_3
Other DBs
NCBI-GeneID: 3930
NCBI-ProteinID: NP_002287
OMIM: 600024
HGNC: 6518
Ensembl: ENSG00000143815
UniProt: Q14739
Structure
Position
1:complement(225401502..225428821)
AA seq 615 aa
MPSRKFADGEVVRGRWPGSSLYYEVEILSHDSTSQLYTVKYKDGTELELKENDIKPLTSF
RQRKGGSTSSSPSRRRGSRSRSRSRSPGRPPKSARRSASASHQADIKEARREVEVKLTPL
ILKPFGNSISRYNGEPEHIERNDAPHKNTQEKFSLSQESSYIATQYSLRPRREEVKLKEI
DSKEEKYVAKELAVRTFEVTPIRAKDLEFGGVPGVFLIMFGLPVFLFLLLLMCKQKDPSL
LNFPPPLPALYELWETRVFGVYLLWFLIQVLFYLLPIGKVVEGTPLIDGRRLKYRLNGFY
AFILTSAVIGTSLFQGVEFHYVYSHFLQFALAATVFCVVLSVYLYMRSLKAPRNDLSPAS
SGNAVYDFFIGRELNPRIGTFDLKYFCELRPGLIGWVVINLVMLLAEMKIQDRAVPSLAM
ILVNSFQLLYVVDALWNEEALLTTMDIIHDGFGFMLAFGDLVWVPFIYSFQAFYLVSHPN
EVSWPMASLIIVLKLCGYVIFRGANSQKNAFRKNPSDPKLAHLKTIHTSTGKNLLVSGWW
GFVRHPNYLGDLIMALAWSLPCGFNHILPYFYIIYFTMLLVHREARDEYHCKKKYGVAWE
KYCQRVPYRIFPYIY
NT seq 1848 nt   +upstreamnt  +downstreamnt
atgccaagtaggaaatttgccgatggtgaagtggtaagaggtcgatggcctgggagttca
ctttattatgaagtagaaattctgagccacgacagcacctcccagctttacactgtgaag
tataaagatggaacagagcttgaattgaaagagaatgatattaagcctttaacttccttt
aggcaaaggaaaggtggctcaacttccagttccccttccagacgccgagggagtcgatca
aggtcacgctcccgatcccctggtcgaccacctaaaagtgcccgccgatctgcttctgct
tcccaccaggccgacattaaggaagcaaggagggaagtggaagttaaattgactccgctg
attctgaagccatttggaaatagcatcagcagatataatggggagcctgagcatattgag
agaaatgacgcacctcataaaaatacacaggaaaaattcagtttgtcacaagaaagcagt
tacatagcaacacagtatagccttcgtccaagaagagaagaagtcaaattaaaagaaata
gattctaaggaagaaaaatacgttgcaaaagaactggcagtgagaacctttgaagtgacc
cccatccgggcaaaggacttggagtttggaggagtacctggtgtgtttctcatcatgttt
ggcctgcctgtgttcctcttcctgttgctgttgatgtgtaaacagaaagatcccagtctt
ctgaatttccctcctcctttgccagctttgtatgagttatgggaaaccagagtatttggg
gtctacctcctgtggtttttgattcaagtcctgttctacctactgccaattggaaaggtt
gtagaaggaacgcctcttattgatggaagaagactcaagtatagattaaatggattctat
gcttttatcctgacatctgcagtcatcggaacatctctcttccagggcgtagagtttcat
tacgtgtacagtcattttcttcagtttgcacttgcggccactgttttttgtgtggtcttg
agtgtgtatctctacatgcgctctttgaaagcgccccggaatgacctgtcgcctgccagc
tctggaaatgctgtctatgatttcttcattggccgtgaattaaaccctcgaattggtact
tttgatctcaaatacttttgtgaattgcgccccggattgattggatgggtggttattaac
ttggtgatgcttttggctgaaatgaaaatacaggaccgcgctgttccatccttggccatg
attttagttaatagtttccagcttctctatgtggtggatgctctctggaatgaggaagcg
ttgttgacgaccatggacatcatccacgatggatttggattcatgctggcttttggagac
ttggtgtgggttccctttatttacagcttccaagccttttatttagtcagtcatccaaat
gaagtgtcttggccaatggcttctctaattattgttctgaaactttgtggttatgtaatc
ttccgaggtgcaaattctcagaaaaatgcattccggaaaaatcccagtgatccaaagctt
gcacatttaaaaaccattcatacttcaacgggaaaaaatcttctagtttctggatggtgg
ggctttgttcgccaccccaattacttgggtgatctcatcatggccttggcgtggtccctc
ccatgtggttttaaccacattctgccttatttctacataatttatttcaccatgttgctt
gtccaccgagaagctcgtgacgagtaccactgtaagaagaaatacggcgtggcttgggaa
aagtactgtcagcgtgtgccctaccgtatatttccatacatctactaa

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Ontology (3)   
   KEGG BRITE (3)   
Pathway (4)   
   KEGG PATHWAY (3)   
   KEGG MODULE (1)   
Network (2)   
   KEGG NETWORK (2)   
Disease (9)   
   KEGG DISEASE (4)   
   OMIM (5)   
Chemical substance (5)   
   KEGG COMPOUND (5)   
Chemical reaction (2)   
   KEGG ENZYME (1)   
   KEGG REACTION (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (21)   
   KEGG ORTHOLOGY (1)   
   RefGene (9)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (6)   
   OC (1)   
Protein sequence (14)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (12)   
DNA sequence (36)   
   RefSeq(nuc) (12)   
   GenBank (12)   
   EMBL (12)   
3D Structure (1)   
   PDB (1)   
Protein domain (7)   
   Pfam (7)   
All databases (105)   

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