KEGG   Homo sapiens (human): 3141Help
Entry
3141              CDS       T01001                                 

Gene name
HLCS, HCS
Definition
(RefSeq) holocarboxylase synthetase
  KO
K01942  biotin---protein ligase [EC:6.3.4.9 6.3.4.10 6.3.4.11 6.3.4.15]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00780  Biotin metabolism
hsa01100  Metabolic pathways
Disease
H00180  Holocarboxylase synthetase deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09108 Metabolism of cofactors and vitamins
   00780 Biotin metabolism
    3141 (HLCS)
Enzymes [BR:hsa01000]
 6. Ligases
  6.3  Forming carbon-nitrogen bonds
   6.3.4  Other carbon-nitrogen ligases
    6.3.4.9  biotin---[methylmalonyl-CoA-carboxytransferase] ligase
     3141 (HLCS)
    6.3.4.10  biotin---[propionyl-CoA-carboxylase (ATP-hydrolysing)] ligase
     3141 (HLCS)
    6.3.4.11  biotin---[methylcrotonoyl-CoA-carboxylase] ligase
     3141 (HLCS)
    6.3.4.15  biotin---[biotin carboxyl-carrier protein] ligase
     3141 (HLCS)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: BPL_LplA_LipB BPL_C BPL_N
Motif
Other DBs
NCBI-GeneID: 3141
NCBI-ProteinID: NP_000402
OMIM: 609018
HGNC: 4976
Ensembl: ENSG00000159267
Vega: OTTHUMG00000086636
Pharos: P50747(Tchem)
UniProt: P50747
Position
21q22.13
AA seq 726 aa AA seqDB search
MEDRLHMDNGLVPQKIVSVHLQDSTLKEVKDQVSNKQAQILEPKPEPSLEIKPEQDGMEH
VGRDDPKALGEEPKQRRGSASGSEPAGDSDRGGGPVEHYHLHLSSCHECLELENSTIESV
KFASAENIPDLPYDYSSSLESVADETSPEREGRRVNLTGKAPNILLYVGSDSQEALGRFH
EVRSVLADCVDIDSYILYHLLEDSALRDPWTDNCLLLVIATRESIPEDLYQKFMAYLSQG
GKVLGLSSSFTFGGFQVTSKGALHKTVQNLVFSKADQSEVKLSVLSSGCRYQEGPVRLSP
GRLQGHLENEDKDRMIVHVPFGTRGGEAVLCQVHLELPPSSNIVQTPEDFNLLKSSNFRR
YEVLREILTTLGLSCDMKQVPALTPLYLLSAAEEIRDPLMQWLGKHVDSEGEIKSGQLSL
RFVSSYVSEVEITPSCIPVVTNMEAFSSEHFNLEIYRQNLQTKQLGKVILFAEVTPTTMR
LLDGLMFQTPQEMGLIVIAARQTEGKGRGGNVWLSPVGCALSTLLISIPLRSQLGQRIPF
VQHLMSVAVVEAVRSIPEYQDINLRVKWPNDIYYSDLMKIGGVLVNSTLMGETFYILIGC
GFNVTNSNPTICINDLITEYNKQHKAELKPLRADYLIARVVTVLEKLIKEFQDKGPNSVL
PLYYRYWVHSGQQVHLGSAEGPKVSIVGLDDSGFLQVHQEGGEVVTVHPDGNSFDMLRNL
ILPKRR
NT seq 2181 nt NT seq  +upstreamnt  +downstreamnt
atggaagatagactccacatggataatggactggtaccccaaaagattgtgtcggtgcac
ttgcaggactccactctgaaggaagttaaggatcaggtctcaaacaagcaagcccagatc
ctagagccgaagcctgaaccttctcttgagattaagcctgagcaggacggtatggagcat
gttggcagagatgacccaaaggctcttggtgaagaacccaaacaaaggagaggcagtgcc
tctgggagtgagcctgctggggacagtgacaggggagggggccccgttgagcattatcac
ctccatctgtctagttgccacgagtgtctggaacttgagaacagcaccattgagtcagtc
aagtttgcgtctgccgagaacattccagaccttccctacgattatagcagcagtttggag
agtgttgctgatgagacctcccccgaaagagaagggaggagagtcaacctcacgggaaag
gcacccaacatcctcctctatgtgggctccgactcccaggaagccctcggccggttccac
gaggtccggtctgtgctggccgactgtgtggacattgacagttatattctctaccacctg
ctggaggacagtgctctcagagacccgtggacggacaactgtctgctgttggtcattgct
accagggagtccattcccgaagacctgtaccagaagttcatggcctatctttctcaggga
gggaaggtgttgggcctgtcttcatccttcacctttggtggctttcaggtgacaagcaag
ggtgcactgcacaagacagtccagaacttggttttctccaaggctgaccagagcgaggtg
aagctcagcgtcttgagcagtggctgcaggtaccaggaaggccccgtccggctcagcccc
ggcaggctccagggccacctggagaatgaggacaaggacaggatgattgtgcatgtgcct
tttggaactcgcgggggagaagctgttctttgccaggtgcacttagaactacctcccagc
tccaacatagtgcaaactccagaagattttaacttgctcaagtcaagcaattttagaaga
tacgaagtccttagagagattctgacaacccttggcctcagctgtgacatgaaacaagtt
cctgccttaactcctctttacttgctgtcagctgcggaggaaatcagggatcctcttatg
cagtggcttgggaaacatgtggactccgagggagaaataaaatccggccagctctctctt
agatttgtttcatcctacgtgtctgaagtagaaataaccccatcttgtatacctgtggtg
accaacatggaggccttctcatcagaacatttcaacttagagatctatcgccaaaatctg
cagaccaagcagttggggaaagtaattttgtttgccgaagtgacccccacaacgatgcgt
ctcctggatgggctgatgtttcagacaccgcaggaaatgggcttaatagtgatcgcggcc
cggcagaccgagggcaaaggacggggagggaatgtgtggctgagccctgtgggatgtgct
ctttctactctgctcatctccattccactgagatcccagctgggacagaggatcccgttt
gtccagcatctgatgtccgtggctgtcgtggaagcagtgaggtccattcccgagtatcag
gatatcaacttacgagtgaagtggcccaacgatatttattacagtgacctcatgaagatc
ggcggagttctggttaactcaacactcatgggagaaacattttatatacttattggctgt
ggatttaatgtgactaacagtaaccctaccatctgcatcaacgacctcatcacagaatac
aataaacaacacaaggcagaactgaagcccttaagagccgattatctcatcgccagagtc
gtgactgtgctggagaaactgatcaaagagtttcaggacaaagggcccaacagcgtcctt
cccctttattaccgatactgggtccacagtggtcagcaagtccatctgggcagcgcagag
ggaccaaaggtgtccatcgttggcctggacgattctggcttcctccaggttcaccaggag
ggcggcgaggttgtgactgtgcacccggacggcaactccttcgacatgctgagaaacctc
atcctccccaaacggcggtaa

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