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CLTC (clathrin heavy chain)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1213
Gene nameGene Name - the full gene name approved by the HGNC.
Clathrin heavy chain
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CLTC
SynonymsGene synonyms aliases
CHC, CHC17, CLH-17, CLTCL2, Hc, MRD56
ChromosomeChromosome number
17
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q23.1
SummarySummary of gene provided in NCBI Entrez Gene.
Clathrin is a major protein component of the cytoplasmic face of intracellular organelles, called coated vesicles and coated pits. These specialized organelles are involved in the intracellular trafficking of receptors and endocytosis of a variety of macr
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs750846632 G>A,T Likely-pathogenic Splice donor variant
rs781677731 G>A,C Likely-pathogenic Splice acceptor variant
rs797044884 GA>-,GAGA Pathogenic, likely-pathogenic Coding sequence variant, frameshift variant
rs1197039101 T>C,G Likely-pathogenic Stop gained, synonymous variant, coding sequence variant
rs1454289985 C>A,T Pathogenic Stop gained, synonymous variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020878 hsa-miR-155-5p Proteomics 18668040
MIRT023919 hsa-miR-1-3p Proteomics 18668040
MIRT051640 hsa-let-7e-5p CLASH 23622248
MIRT051201 hsa-miR-16-5p CLASH 23622248
MIRT051201 hsa-miR-16-5p CLASH 23622248
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000278 Process Mitotic cell cycle IBA 21873635
GO:0000278 Process Mitotic cell cycle IMP 15858577
GO:0001649 Process Osteoblast differentiation HDA 16210410
GO:0003723 Function RNA binding HDA 22681889
GO:0003725 Function Double-stranded RNA binding IDA 21266579
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q00610
Protein name Clathrin heavy chain 1 (Clathrin heavy chain on chromosome 17) (CLH-17)
Protein function Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans-Golgi network. Acts as a component of the TACC3/ch-
PDB 2XZG , 4G55 , 6E4L , 6QNN , 6QNP , 7BN1 , 7BN2 , 7ZX4 , 9C0Y , 9C0Z
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01394 Clathrin_propel
19 56
Clathrin propeller repeat
Repeat
PF01394 Clathrin_propel
148 187
Clathrin propeller repeat
Repeat
PF01394 Clathrin_propel
198 234
Clathrin propeller repeat
Repeat
PF01394 Clathrin_propel
253 288
Clathrin propeller repeat
Repeat
PF01394 Clathrin_propel
296 330
Clathrin propeller repeat
Repeat
PF09268 Clathrin-link
331 354
Clathrin, heavy-chain linker
Family
PF13838 Clathrin_H_link
356 421
Domain
PF00637 Clathrin
537 679
Region in Clathrin and VPS
Family
PF00637 Clathrin
686 827
Region in Clathrin and VPS
Family
PF00637 Clathrin
834 971
Region in Clathrin and VPS
Family
PF00637 Clathrin
979 1123
Region in Clathrin and VPS
Family
PF00637 Clathrin
1128 1268
Region in Clathrin and VPS
Family
PF00637 Clathrin
1274 1419
Region in Clathrin and VPS
Family
PF00637 Clathrin
1423 1565
Region in Clathrin and VPS
Family
Sequence
MAQILPIRFQEHLQLQNLGINPANIGFSTLTMESDKFICIREKVGEQAQVVIIDMNDPSN
PIRRPISADSAIMNPASKVIALKAGKTLQIFNIEMKSKMKAHTMTDDVTFWKWISLNTVA
LVTDNAVYHWSMEGESQPVKMFDRHSSLAGCQIINYRTDAKQKWLLLTGISAQQNRVVGA
MQLYSVD
RKVSQPIEGHAASFAQFKMEGNAEESTLFCFAVRGQAGGKLHIIEVGTPPTGN
QPFPKKAVDVFFPPEAQNDFPVAMQISEKHDVVFLITKYGYIHLYDLETGTCIYMNRISG
ETIFVTAPHEATAGIIGVNRKGQVLSVCVE
EENIIPYITNVLQNPDLALRMAVRNNLAGA
EELFARKFNALFAQGNYSEAAKVAANAPKGILRTPDTIRRFQSVPAQPGQTSPLLQYFGI
L
LDQGQLNKYESLELCRPVLQQGRKQLLEKWLKEDKLECSEELGDLVKSVDPTLALSVYL
RANVPNKVIQCFAETGQVQKIVLYAKKVGYTPDWIFLLRNVMRISPDQGQQFAQMLVQDE
EPLADITQIVDVFMEYNLIQQCTAFLLDALKNNRPSEGPLQTRLLEMNLMHAPQVADAIL
GNQMFTHYDRAHIAQLCEKAGLLQRALEHFTDLYDIKRAVVHTHLLNPEWLVNYFGSLSV
EDSLECLRAMLSANIRQNL
QICVQVASKYHEQLSTQSLIELFESFKSFEGLFYFLGSIVN
FSQDPDVHFKYIQAACKTGQIKEVERICRESNCYDPERVKNFLKEAKLTDQLPLIIVCDR
FDFVHDLVLYLYRNNLQKYIEIYVQKVNPSRLPVVIGGLLDVDCSED
VIKNLILVVRGQF
STDELVAEVEKRNRLKLLLPWLEARIHEGCEEPATHNALAKIYIDSNNNPERFLRENPYY
DSRVVGKYCEKRDPHLACVAYERGQCDLELINVCNENSLFKSLSRYLVRRKDPELWGSVL
LESNPYRRPLI
DQVVQTALSETQDPEEVSVTVKAFMTADLPNELIELLEKIVLDNSVFSE
HRNLQNLLILTAIKADRTRVMEYINRLDNYDAPDIANIAISNELFEEAFAIFRKFDVNTS
AVQVLIEHIGNLDRAYEFAERCNEPAVWSQLAKAQLQKGMVKE
AIDSYIKADDPSSYMEV
VQAANTSGNWEELVKYLQMARKKARESYVETELIFALAKTNRLAELEEFINGPNNAHIQQ
VGDRCYDEKMYDAAKLLYNNVSNFGRLASTLVHLGEYQAAVDGARKANSTRTWKEVCFAC
VDGKEFRL
AQMCGLHIVVHADELEELINYYQDRGYFEELITMLEAALGLERAHMGMFTEL
AILYSKFKPQKMREHLELFWSRVNIPKVLRAAEQAHLWAELVFLYDKYEEYDNAIITMMN
HPTDAWKEGQFKDIITKVANVELYYRAIQFYLEFKPLLL
NDLLMVLSPRLDHTRAVNYFS
KVKQLPLVKPYLRSVQNHNNKSVNESLNNLFITEEDYQALRTSIDAYDNFDNISLAQRLE
KHELIEFRRIAAYLFKGNNRWKQSVELCKKDSLYKDAMQYASESKDTELAEELLQWFLQE
EKREC
FGACLFTCYDLLRPDVVLETAWRHNIMDFAMPYFIQVMKEYLTKVDKLDASESLR
KEEEQATETQPIVYGQPQLMLTAGPSVAVPPQAPFGYGYTAPPYGQPQPGFGYSM
Sequence length 1675
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Lysosome
Endocytosis
Synaptic vesicle cycle
Endocrine and other factor-regulated calcium reabsorption
Huntington disease
Bacterial invasion of epithelial cells
  Entry of Influenza Virion into Host Cell via Endocytosis
Retrograde neurotrophin signalling
Gap junction degradation
Formation of annular gap junctions
MHC class II antigen presentation
EPH-ephrin mediated repulsion of cells
Lysosome Vesicle Biogenesis
Golgi Associated Vesicle Biogenesis
Recycling pathway of L1
WNT5A-dependent internalization of FZD4
WNT5A-dependent internalization of FZD2, FZD5 and ROR2
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
VLDLR internalisation and degradation
LDL clearance
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs120074176, rs786205019
Autism Autistic Disorder rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Developmental regression Developmental regression rs1224421127
Unknown
Disease name Disease term dbSNP ID References
Cerebral atrophy Cerebral atrophy
Dwarfism Dwarfism
Dyskinetic syndrome Dyskinetic syndrome
Dysmorphic features Dysmorphic features 1063406, 9671304, 24870542, 8375651, 15217342, 19348700, 15858577, 22831640, 18762582, 15284851, 11955450, 26822784, 16618797, 16982422, 20206336, 29100083, 9147638, 19854944, 28135719, 23911319, 24234437, 24253303, 22511880

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