Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1213
Gene name Gene Name - the full gene name approved by the HGNC.
Clathrin heavy chain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CLTC
Synonyms (NCBI Gene) Gene synonyms aliases
CHC, CHC17, CLH-17, CLTCL2, Hc, MRD56
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q23.1
Summary Summary 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
SNPs SNP 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
miRNA miRNA 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
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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
118955 2092 ENSG00000141367
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental retardation Intellectual disability, autosomal dominant 56 rs1555607682, rs1598226304, rs1598211790, rs797044884, rs1555607621, rs1555604778, rs1555607159 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Epileptic encephalopathy undetermined early-onset epileptic encephalopathy N/A N/A GenCC
Non-Syndromic Intellectual Disability autosomal dominant non-syndromic intellectual disability N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Agenesis of Corpus Callosum Associate 31776469
Ameloblastoma Associate 33395399
Arthritis Rheumatoid Associate 35273614
Breast Neoplasms Associate 23496902, 25860340
Carcinoma Hepatocellular Associate 23082062
Diabetes Mellitus Associate 36837510
Diabetes Mellitus Type 2 Associate 35257412
Epilepsy Associate 31776469
Esophageal Neoplasms Associate 32104700
Intellectual Disability Associate 31776469