KEGG   Homo sapiens (human): 23007
Entry
23007             CDS       T01001                                 
Symbol
PLCH1, HPE14, PLC_eta_1, PLC-L3, PLCL3
Name
(RefSeq) phospholipase C eta 1
  KO
K19006  phosphatidylinositol phospholipase C, eta [EC:3.1.4.11]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00562  Inositol phosphate metabolism
hsa01100  Metabolic pathways
Disease
H00267  Holoprosencephaly
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09101 Carbohydrate metabolism
   00562 Inositol phosphate metabolism
    23007 (PLCH1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    23007 (PLCH1)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.1  Acting on ester bonds
   3.1.4  Phosphoric-diester hydrolases
    3.1.4.11  phosphoinositide phospholipase C
     23007 (PLCH1)
Membrane trafficking [BR:hsa04131]
 Exocytosis
  Calcium ion-dependent exocytosis
   Phospholipases
    23007 (PLCH1)
 Endocytosis
  Macropinocytosis
   Phospholipase C
    23007 (PLCH1)
SSDB
Motif
Pfam: PI-PLC-X PI-PLC-Y C2 EF-hand_like EF-hand_7 EF-hand_1 PH_12 EF-hand_6 EF-hand_8 EF-hand_10 EF-hand_5 AIF-1 PH EF-hand_4 SPARC_Ca_bdg
Other DBs
NCBI-GeneID: 23007
NCBI-ProteinID: NP_001124432
OMIM: 612835
HGNC: 29185
Ensembl: ENSG00000114805
UniProt: Q4KWH8
Position
3:complement(155450934..155745071)
AA seq 1693 aa
MADLEVYKNLSPEKVERCMSVMQSGTQMIKLKRGTKGLVRLFYLDEHRTRLRWRPSRKSE
KAKILIDSIYKVTEGRQSEIFHRQAEGNFDPSCCFTIYHGNHMESLDLITSNPEEARTWI
TGLKYLMAGISDEDSLAKRQRTHDQWVKQTFEEADKNGDGLLNIEEIHQLMHKLNVNLPR
RKVRQMFQEADTDENQGTLTFEEFCVFYKMMSLRRDLYLLLLSYSDKKDHLTVEELAQFL
KVEQKMNNVTTDYCLDIIKKFEVSEENKVKNVLGIEGFTNFMRSPACDIFNPLHHEVYQD
MDQPLCNYYIASSHNTYLTGDQLLSQSKVDMYARVLQEGCRCVEVDCWDGPDGEPVVHHG
YTLTSKILFRDVVETINKHAFVKNEFPVILSIENHCSIQQQRKIAQYLKGIFGDKLDLSS
VDTGECKQLPSPQSLKGKILVKGKKLPYHLGDDAEEGEVSDEDSADEIEDECKFKLHYSN
GTTEHQVESFIRKKLESLLKESQIRDKEDPDSFTVRALLKATHEGLNAHLKQSPDVKESG
KKSHGRSLMTNFGKHKKTTKSRSKSYSTDDEEDTQQSTGKEGGQLYRLGRRRKTMKLCRE
LSDLVVYTNSVAAQDIVDDGTTGNVLSFSETRAHQVVQQKSEQFMIYNQKQLTRIYPSAY
RIDSSNFNPLPYWNAGCQLVALNYQSEGRMMQLNRAKFKANGNCGYVLKPQQMCKGTFNP
FSGDPLPANPKKQLILKVISGQQLPKPPDSMFGDRGEIIDPFVEVEIIGLPVDCCKDQTR
VVDDNGFNPVWEETLTFTVHMPEIALVRFLVWDHDPIGRDFVGQRTVTFSSLVPGYRHVY
LEGLTEASIFVHITINEIYGKWSPLILNPSYTILHFLGATKNRQLQGLKGLFNKNPRHSS
SENNSHYVRKRSIGDRILRRTASAPAKGRKKSKMGFQEMVEIKDSVSEATRDQDGVLRRT
TRSLQARPVSMPVDRNLLGALSLPVSETAKDIEGKENSLAEDKDGRRKGKASIKDPHFLN
FNKKLSSSSSALLHKDTSQGDTIVSTAHMSVTGEQLGMSSPRGGRTTSNATSNCQENPCP
SKSLSPKQHLAPDPVVNPTQDLHGVKIKEKGNPEDFVEGKSILSGSVLSHSNLEIKNLEG
NRGKGRAATSFSLSDVSMLCSDIPDLHSTAILQESVISHLIDNVTLTNENEPGSSISALI
GQFDETNNQALTVVSHLHNTSVMSGHCPLPSLGLKMPIKHGFCKGKSKSSFLCSSPELIA
LSSSETTKHATNTVYETTCTPISKTKPDDDLSSKAKTAALESNLPGSPNTSRGWLPKSPT
KGEDWETLKSCSPASSPDLTLEDVIADPTLCFNSGESSLVEIDGESENLSLTTCEYRREG
TSQLASPLKLKYNQGVVEHFQRGLRNGYCKETLRPSVPEIFNNIQDVKTQSISYLAYQGA
GFVHNHFSDSDAKMFQTCVPQQSSAQDMHVPVPKQLAHLPLPALKLPSPCKSKSLGDLTS
EDIACNFESKYQCISKSFVTTGIRDKKGVTVKTKSLEPIDALTEQLRKLVSFDQEDNCQV
LYSKQDANQLPRALVRKLSSRSQSRVRNIASRAKEKQEANKQKVPNPSNGAGVVLRNKPS
APTPAVNRHSTGSYIAGYLKNTKGGGLEGRGIPEGACTALHYGHVDQFCSDNSVLQTEPS
SDDKPEIYFLLRL
NT seq 5082 nt   +upstreamnt  +downstreamnt
atggcagaccttgaagtgtataaaaacttaagtccagaaaaagttgaaagatgcatgagt
gtgatgcagtccgggacacagatgatcaagctgaaacgtggaaccaaagggcttgtccgc
ctcttttacctggatgagcaccggacacgcctccgatggcgaccctctaggaagagtgag
aaggcaaaaatacttattgattccatttacaaagtgactgagggccggcagtctgaaata
ttccacagacaagctgaggggaacttcgaccccagctgctgcttcaccatctaccatggc
aaccacatggagtccctggacctcatcacctccaaccccgaggaggcccgcacctggatc
acaggcctcaagtacctgatggctggcatcagtgatgaagactcccttgccaaaaggcag
aggacccatgaccaatgggtgaagcagacctttgaggaagctgataagaatggtgacggc
ttgctgaatattgaagagatacatcagctgatgcataaactgaatgttaatctgccccga
agaaaagtcagacaaatgtttcaggaagccgacacagatgagaatcagggaactttgaca
tttgaagagttctgtgttttttacaaaatgatgtctttgagacgagacctttatttgtta
cttttgagctacagtgacaagaaagatcacctaactgtggaagaactggctcagtttttg
aaggtggagcaaaagatgaataatgtgacaacggactattgtcttgacatcataaagaag
tttgaagtttcagaagaaaataaggtgaaaaatgttcttggcatagaaggcttcacgaac
ttcatgcgtagtcctgcctgtgacatatttaacccattgcaccatgaagtgtaccaagac
atggatcagcccctctgcaactactacattgcttcctctcacaatacatacctgactgga
gaccagctcctttctcagtccaaagtggatatgtatgcacgggtgctgcaagagggctgt
cgctgtgtggaagttgactgttgggatggcccagatggagagccagtagtacatcatggt
tacactctcacttcaaaaattctcttcagagatgttgtggagaccatcaacaagcatgcc
tttgtgaagaatgagtttcctgttatattgtctatcgagaatcactgcagtatccagcag
caaaggaagattgctcagtacctgaaaggaatattcggagacaaactggacctgtcatct
gttgatacaggggagtgcaagcagcttccaagccctcaaagtttgaaaggcaaaattcta
gtgaagggtaagaagttgccttatcaccttggggatgatgcagaggaaggggaagtttct
gatgaggacagtgcagatgaaattgaagacgagtgcaaattcaagctccattatagtaat
gggaccactgagcatcaggtggaatctttcataaggaaaaaactggagtcactgttaaaa
gaatctcaaattcgagataaagaagatcctgatagtttcacagtgcgggcactactgaag
gccacgcatgaaggcttaaatgcacacctgaagcagagtccagatgtaaaggaaagtgga
aagaaatcacatggacgatccctcatgaccaactttggaaaacataagaaaactacaaaa
tcacggtctaaatcttacagtactgatgatgaggaagacacacagcagagtactggcaag
gagggtggccagctgtacagattgggtcgccgaaggaaaaccatgaagctctgccgagaa
ctctctgatttggttgtgtacacaaactccgtggccgctcaggacattgtggatgacgga
accacaggaaatgtgttatcattcagtgaaacaagagcacatcaggttgttcagcaaaaa
tcagagcagttcatgatttataatcaaaagcaactcacgaggatttacccctctgcctac
cgcattgattccagtaacttcaaccctctcccctactggaacgcaggctgccagctagtg
gcactgaattatcaatctgaaggacgaatgatgcagttaaaccgagccaaattcaaggca
aatggcaattgtggctatgtcctcaaaccccagcaaatgtgcaaaggtactttcaaccct
ttctctggtgaccctcttcctgccaaccccaaaaagcagctcatcctgaaagttatcagt
ggacagcaactccccaaacctccagactccatgtttggagatcgaggcgagatcattgac
ccttttgttgaagttgaaattattggattgccagtagattgttgtaaagatcaaacccgt
gtggtagatgacaatggatttaaccctgtgtgggaagaaacactgacatttacagtacac
atgccagaaatagctttggttcggttccttgtgtgggatcacgatcccattggacgagac
tttgttggacaaagaactgtgaccttcagcagcttagtgcctggctaccggcatgtctat
ttggaaggactgacagaagcatccatatttgtacacataaccatcaatgaaatctatgga
aagtggagccctttaatactcaaccccagttatactatattgcactttctaggagctaca
aagaacagacaactccagggtctgaagggactgttcaataagaatcctaggcacagttct
tcagaaaacaattcccattatgtacggaagcgatccattggagatagaattctgcgacgc
acagctagcgccccagccaaaggcaggaaaaagagcaaaatgggcttccaagaaatggtg
gagataaaggattctgtgtccgaggccacaagagatcaagatggcgtgctgaggaggacc
acacgcagtttgcaagcacgccctgtctctatgcctgttgacagaaaccttctgggagct
ttgtcgctgcctgtatctgaaacagcaaaagacattgaaggaaaagaaaactctctagca
gaagataaagatggcagaagaaaagggaaagcaagtataaaagatccacattttctaaat
ttcaacaaaaagttatcatcctcctccagtgctctgctccacaaagataccagccaaggg
gacaccattgtatctactgcccacatgtcagtcacaggagaacagctgggcatgtcaagt
cctaggggtgggagaaccacatcaaatgccacaagcaattgccaggaaaacccctgtccc
agcaagtctctctccccaaagcagcatttggctcccgatcctgtagttaaccccacacaa
gatctgcatggtgtgaaaatcaaggaaaagggtaatcctgaggactttgtggaagggaaa
agcatcttgtcaggaagcgtcctttctcatagcaacctagaaattaagaacctggaaggt
aataggggtaagggccgagctgcaacatccttttctttgtcagacgtctccatgctctgt
tctgacatacctgacctacattcaactgcaattctgcaggagagtgtaatttcccatctt
attgacaatgtcactttaacaaatgagaatgagccgggcagttccatctcagccctgatt
ggccagtttgatgagaccaacaatcaggctctcacagttgtttctcatcttcataatacc
agtgtgatgtcaggccattgtcccttgcctagcctgggcctaaaaatgcccatcaagcat
ggtttttgcaagggaaaatccaagtcttccttcctgtgctcatctccggagctgatagca
ctctcgagttctgagaccaccaaacatgcaacgaacacagtttatgaaactacctgcact
cccatctctaaaaccaaaccagatgatgacctttctagtaaggccaagacagcggcctta
gaaagcaacctgcctggatcccctaatacttctcgtggctggttaccaaaaagtcctacc
aagggagaagactgggaaacactgaagagctgcagccctgcctcttcccctgatttgacc
ctggaggatgtaatagctgatcccactctctgtttcaattctggggagagcagccttgtg
gaaattgatggagaatcagaaaatctttctctaacaacctgtgaatataggagagagggc
acaagtcaacttgcttctcctttaaaactcaagtacaatcagggtgtggtagaacacttt
caaagaggtttgagaaacggctactgtaaagagaccctccgcccttctgtccctgaaata
ttcaacaatattcaagatgtcaaaactcaaagtatttcttatctagcctatcagggtgct
ggctttgtgcataatcatttctcagattcagatgcaaaaatgttccagacctgtgtgccc
cagcaatctagtgctcaagatatgcatgtccctgtacccaagcagttggcacatcttcct
ttgcctgctctgaaactgcctagtccttgcaaatccaaaagtctgggggacttaacatca
gaggacattgcctgcaattttgagagcaagtaccagtgtattagtaagagttttgttaca
actggcattagagacaagaagggcgtgactgtgaagacaaagtcgttagagcctatagat
gccctgaccgagcagcttcggaagcttgtgtcctttgaccaggaagacaactgccaagtg
ctatattcaaagcaggatgccaatcagctcccccgggcactggtcaggaagttgtcatcc
agaagtcagagcagagtgcgcaatattgctagtcgtgccaaggagaaacaggaagccaac
aagcagaaagttccaaaccccagcaatggggcaggagtggttcttagaaacaaaccctca
gcacccacccctgcagtgaatcgccactccaccggctcctacatcgcaggctacctgaag
aacacgaaagggggtggccttgaaggccggggcatcccagagggggcatgcacggctctt
cactatggccacgttgaccagttttgttcagataattctgttttgcagactgagccaagc
agtgatgataaaccagaaatttattttcttttgagactgtga

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