KEGG   Homo sapiens (human): 1213
Entry
1213              CDS       T01001                                 
Symbol
CLTC, CHC, CHC17, CLH-17, CLTCL2, Hc, MRD56
Name
(RefSeq) clathrin heavy chain
  KO
K04646  clathrin heavy chain
Organism
hsa  Homo sapiens (human)
Pathway
hsa04142  Lysosome
hsa04144  Endocytosis
hsa04721  Synaptic vesicle cycle
hsa04961  Endocrine and other factor-regulated calcium reabsorption
hsa05016  Huntington disease
hsa05100  Bacterial invasion of epithelial cells
Network
nt06515  Regulation of kinetochore-microtubule interactions
  Element
N01547  Kinetochore fiber organization
N01548  Kinetochore-fiber stabilization
Disease
H00773  Autosomal dominant intellectual developmental disorder
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04144 Endocytosis
    1213 (CLTC)
   04142 Lysosome
    1213 (CLTC)
 09150 Organismal Systems
  09155 Excretory system
   04961 Endocrine and other factor-regulated calcium reabsorption
    1213 (CLTC)
  09156 Nervous system
   04721 Synaptic vesicle cycle
    1213 (CLTC)
 09160 Human Diseases
  09171 Infectious disease: bacterial
   05100 Bacterial invasion of epithelial cells
    1213 (CLTC)
  09164 Neurodegenerative disease
   05016 Huntington disease
    1213 (CLTC)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    1213 (CLTC)
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    1213 (CLTC)
Membrane trafficking [BR:hsa04131]
 Endocytosis
  Clathrin-mediated endocytosis
   Clathrin
    1213 (CLTC)
Exosome [BR:hsa04147]
 Exosomal proteins
  Proteins found in most exosomes
   1213 (CLTC)
SSDB
Motif
Pfam: Clathrin Clathrin_propel Clathrin_H_link Clathrin-link Coatomer_WDAD TPR_1
Other DBs
NCBI-GeneID: 1213
NCBI-ProteinID: NP_004850
OMIM: 118955
HGNC: 2092
Ensembl: ENSG00000141367
UniProt: Q00610
Structure
Position
17:59619895..59696956
AA seq 1675 aa
MAQILPIRFQEHLQLQNLGINPANIGFSTLTMESDKFICIREKVGEQAQVVIIDMNDPSN
PIRRPISADSAIMNPASKVIALKAGKTLQIFNIEMKSKMKAHTMTDDVTFWKWISLNTVA
LVTDNAVYHWSMEGESQPVKMFDRHSSLAGCQIINYRTDAKQKWLLLTGISAQQNRVVGA
MQLYSVDRKVSQPIEGHAASFAQFKMEGNAEESTLFCFAVRGQAGGKLHIIEVGTPPTGN
QPFPKKAVDVFFPPEAQNDFPVAMQISEKHDVVFLITKYGYIHLYDLETGTCIYMNRISG
ETIFVTAPHEATAGIIGVNRKGQVLSVCVEEENIIPYITNVLQNPDLALRMAVRNNLAGA
EELFARKFNALFAQGNYSEAAKVAANAPKGILRTPDTIRRFQSVPAQPGQTSPLLQYFGI
LLDQGQLNKYESLELCRPVLQQGRKQLLEKWLKEDKLECSEELGDLVKSVDPTLALSVYL
RANVPNKVIQCFAETGQVQKIVLYAKKVGYTPDWIFLLRNVMRISPDQGQQFAQMLVQDE
EPLADITQIVDVFMEYNLIQQCTAFLLDALKNNRPSEGPLQTRLLEMNLMHAPQVADAIL
GNQMFTHYDRAHIAQLCEKAGLLQRALEHFTDLYDIKRAVVHTHLLNPEWLVNYFGSLSV
EDSLECLRAMLSANIRQNLQICVQVASKYHEQLSTQSLIELFESFKSFEGLFYFLGSIVN
FSQDPDVHFKYIQAACKTGQIKEVERICRESNCYDPERVKNFLKEAKLTDQLPLIIVCDR
FDFVHDLVLYLYRNNLQKYIEIYVQKVNPSRLPVVIGGLLDVDCSEDVIKNLILVVRGQF
STDELVAEVEKRNRLKLLLPWLEARIHEGCEEPATHNALAKIYIDSNNNPERFLRENPYY
DSRVVGKYCEKRDPHLACVAYERGQCDLELINVCNENSLFKSLSRYLVRRKDPELWGSVL
LESNPYRRPLIDQVVQTALSETQDPEEVSVTVKAFMTADLPNELIELLEKIVLDNSVFSE
HRNLQNLLILTAIKADRTRVMEYINRLDNYDAPDIANIAISNELFEEAFAIFRKFDVNTS
AVQVLIEHIGNLDRAYEFAERCNEPAVWSQLAKAQLQKGMVKEAIDSYIKADDPSSYMEV
VQAANTSGNWEELVKYLQMARKKARESYVETELIFALAKTNRLAELEEFINGPNNAHIQQ
VGDRCYDEKMYDAAKLLYNNVSNFGRLASTLVHLGEYQAAVDGARKANSTRTWKEVCFAC
VDGKEFRLAQMCGLHIVVHADELEELINYYQDRGYFEELITMLEAALGLERAHMGMFTEL
AILYSKFKPQKMREHLELFWSRVNIPKVLRAAEQAHLWAELVFLYDKYEEYDNAIITMMN
HPTDAWKEGQFKDIITKVANVELYYRAIQFYLEFKPLLLNDLLMVLSPRLDHTRAVNYFS
KVKQLPLVKPYLRSVQNHNNKSVNESLNNLFITEEDYQALRTSIDAYDNFDNISLAQRLE
KHELIEFRRIAAYLFKGNNRWKQSVELCKKDSLYKDAMQYASESKDTELAEELLQWFLQE
EKRECFGACLFTCYDLLRPDVVLETAWRHNIMDFAMPYFIQVMKEYLTKVDKLDASESLR
KEEEQATETQPIVYGQPQLMLTAGPSVAVPPQAPFGYGYTAPPYGQPQPGFGYSM
NT seq 5028 nt   +upstreamnt  +downstreamnt
atggcccagattctgccaattcgttttcaggagcatctccagctccagaacctgggtatc
aacccagcaaacattggcttcagtaccctgactatggagtctgacaaattcatctgcatt
agagaaaaagtaggagagcaggcccaggtggtaatcattgatatgaatgacccaagtaat
ccaattcgaagaccaatttcagcagacagcgccatcatgaatccagctagcaaagtaatt
gcactgaaagctgggaaaactcttcagatttttaacattgaaatgaaaagtaaaatgaag
gctcataccatgactgatgatgtcaccttttggaaatggatctctttgaatacggttgct
cttgttacggataatgcagtttatcactggagtatggaaggagagtctcagccagtgaaa
atgtttgatcgccattctagccttgcagggtgccagattatcaattaccgtacagatgca
aaacaaaagtggttacttctgactggtatatctgcacagcaaaatcgtgtggtgggagct
atgcagctatattctgtagataggaaagtgtctcagcccattgaaggacatgcagctagc
tttgcacagtttaagatggaaggaaatgcagaagaatcaacgttattttgttttgcagtt
cggggccaagctggagggaagttacatattattgaagttggcacaccacctacagggaac
cagccctttccaaagaaggcagtggatgtcttctttcctccagaagcacaaaatgatttt
cctgttgcaatgcagatcagtgaaaagcatgatgtggtgttcttgataaccaagtatggt
tatatccacctctatgatcttgagactggtacctgcatctacatgaatagaatcagtgga
gaaacaatttttgttactgcacctcatgaagccacagctggaataattggagtaaacaga
aagggacaagttctgtcagtgtgtgtggaagaagaaaacataattccttacatcaccaat
gttctacaaaatcctgatttggctctgagaatggctgtacgtaataacttagccggtgct
gaagaactctttgcccggaaatttaatgctctttttgcccagggaaattactcggaggca
gcaaaggtggctgctaatgcaccaaagggaattcttcgtactccagacactatccgtcgg
ttccagagtgtcccagcccagccaggtcaaacttctcctctacttcagtactttggtatc
cttttggaccagggacagctcaacaaatacgaatccttagagctttgtaggcctgtactt
cagcaagggcgaaaacagcttttggagaaatggttaaaagaagataagctggaatgttct
gaagaactgggtgatcttgtgaaatctgtggaccctacattggcacttagtgtgtaccta
agggctaacgtcccaaataaagtcattcagtgctttgcagaaacaggtcaagtccaaaag
attgttttatatgctaaaaaagttggatacactccagattggatatttctgctgagaaat
gtaatgcgaatcagtccagatcagggacagcagtttgcccaaatgttagttcaagatgaa
gagcctcttgctgacatcacacagattgtagatgtctttatggaatacaatctaattcag
cagtgtactgcattcttgcttgatgctctgaagaataatcgcccatctgaaggtccttta
cagacgcggttacttgagatgaaccttatgcatgcgcctcaagttgcagatgctattcta
ggcaatcagatgttcacacattatgaccgggctcatattgctcaactgtgtgaaaaggct
ggcctactgcagcgtgcattagaacatttcactgatttatatgatataaaacgtgcagtg
gttcacacccatcttcttaaccctgagtggttagtcaactactttggttccttatcagta
gaagactccctagaatgtctcagagccatgctgtctgccaacatccgtcagaatctgcag
atttgtgttcaggtggcttctaaatatcatgaacaactgtcaactcagtctctgattgaa
ctttttgaatctttcaagagttttgaaggtctcttttattttctgggatccattgttaac
tttagccaggacccagatgtgcactttaaatatattcaggcagcttgcaagactgggcaa
atcaaagaagtagaaagaatctgtagagaaagcaactgctacgatcctgagcgagtcaag
aattttcttaaggaagcaaaactaacagatcagctaccacttatcattgtgtgtgatcga
tttgactttgtccatgatttggtgctctatttatatagaaataatcttcaaaagtatata
gagatatatgtacagaaggtgaatccaagtcgacttcctgtagttattggaggattactt
gatgttgactgttctgaagatgtcataaaaaacttgattcttgttgtaagaggtcaattc
tctactgatgagcttgttgctgaggttgaaaaaagaaacagattgaaactgcttctgcct
tggctagaggccagaattcatgagggctgtgaggagcctgctactcacaatgccttagcc
aaaatctacatagacagtaataacaacccggagagatttcttcgtgaaaatccctactat
gacagtcgcgttgttggaaagtattgtgagaagagagatccacatctggcctgtgttgct
tatgaacgtggccaatgtgatctggaacttattaatgtttgcaatgagaattccctcttc
aaaagtctttctcgctacctggtacgtcgaaaggatccagaattgtggggcagcgtgctg
ctggaaagcaatccttacaggagacccctaattgaccaggttgtacaaacagctttgtct
gagactcaggaccctgaagaagtgtcagtaactgtaaaggctttcatgactgcagacctt
cctaatgaactcattgaactgctggagaaaattgtccttgataactctgtattcagtgaa
cacaggaatctgcaaaacctccttatcctcactgcaattaaggctgaccgtacacgtgtt
atggagtatattaaccgcctggataattatgatgccccagatattgccaatatcgccatc
agcaatgagctgtttgaagaagcatttgccattttccggaaatttgatgtcaatacttca
gcagttcaggtcttaattgagcatattggaaacttggatcgggcatatgagtttgctgaa
cgttgcaatgaacctgcggtctggagtcaacttgcaaaagcccagttgcagaaaggaatg
gtgaaagaagccattgattcttatatcaaagcagatgatccttcctcctacatggaagtt
gttcaggctgccaatactagtggaaactgggaagaactggtgaagtacttgcagatggcc
cgtaagaaggctcgagagtcctatgtggagacagaactgatattcgcactggctaaaaca
aaccgccttgcagagttagaagaatttatcaatggaccaaataatgctcatatccaacaa
gttggtgaccgttgttatgatgaaaaaatgtatgatgctgctaagttgttgtacaataat
gtttccaattttggacgtttggcatctaccctggttcacctgggtgaatatcaggcagct
gttgatggggctaggaaagctaacagtactcgaacatggaaagaggtctgcttcgcctgt
gtagatgggaaagaattccgtcttgctcagatgtgtggacttcatattgttgtacatgca
gatgaattagaagaacttatcaactactatcaggatcgtggctattttgaagagctgatc
accatgttggaagcagcactgggacttgagcgagctcacatgggaatgtttactgaatta
gctattctatactctaaatttaagcctcagaaaatgagggagcacctggagctgttctgg
tctagagtgaatattcccaaggtgctaagagctgcagaacaagctcatctttgggcagaa
ctggtgtttttgtatgacaagtatgaagaatatgataatgccataattaccatgatgaat
catccaactgatgcctggaaagaagggcaattcaaagatatcattaccaaggttgccaat
gtggaactatactacagagcaatacagttctacttagaattcaagcctctgttgttaaat
gatttgctgatggtgctgtctccacggttggatcacactcgtgcagtcaattatttcagc
aaggttaaacagctaccactggtgaaaccgtatttgcgttcagttcagaaccataacaac
aaatctgtgaatgaatcattgaacaatctttttattacagaagaagattatcaggctctg
cgaacatcaatagatgcttatgacaactttgacaatatctcgcttgctcagcgtttggaa
aaacatgaactcattgagttcaggagaattgctgcttatctcttcaaaggcaacaatcgc
tggaaacagagtgtagagctgtgcaagaaagacagcctttacaaggatgcaatgcagtat
gcttctgaatctaaagatactgaattggctgaagaactcctgcagtggtttttgcaggaa
gaaaaaagagagtgctttggagcttgtctgtttacctgttacgatcttttaaggccagat
gtcgtcctagaaactgcatggaggcacaatatcatggattttgccatgccctatttcatc
caggtcatgaaggagtacttgacaaaggtggataaattagatgcttcagaatcactgaga
aaagaagaagaacaagctacagagacacaacccattgtttatggtcagccccagttgatg
ctgacagcaggacccagtgttgccgtccctccccaggcaccttttggttatggttatacc
gcaccaccgtatggacagccacagcctggctttgggtacagcatgtga

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