• Gene id: 1213

Gene Summary

• Gene Symbol: CLTC   Gene   UCSC   Ensembl
• Aliases: CHC, CHC17, CLH-17, CLTCL2, Hc, MRD56
• Gene name: clathrin heavy chain
• Alternate names: clathrin heavy chain 1, clathrin heavy chain on chromosome 17, clathrin, heavy polypeptide (Hc), clathrin, heavy polypeptide-like 2,
• Gene location: 17q23.1 (59619688: 59696955)     Exons: 32     NC_000017.11
• Gene summary(Entrez): 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 mac
• OMIM: 118955

Protein Summary

• Protein general information: Q00610  
  • Name: Clathrin heavy chain 1 (Clathrin heavy chain on chromosome 17) (CLH 17)
  • Length: 1675  
  • Mass: 191615
• Sequence:

  MAQILPIRFQEHLQLQNLGINPANIGFSTLTMESDKFICIREKVGEQAQVVIIDMNDPSNPIRRPISADSAIMNP
  ASKVIALKAGKTLQIFNIEMKSKMKAHTMTDDVTFWKWISLNTVALVTDNAVYHWSMEGESQPVKMFDRHSSLAG
  CQIINYRTDAKQKWLLLTGISAQQNRVVGAMQLYSVDRKVSQPIEGHAASFAQFKMEGNAEESTLFCFAVRGQAG
  GKLHIIEVGTPPTGNQPFPKKAVDVFFPPEAQNDFPVAMQISEKHDVVFLITKYGYIHLYDLETGTCIYMNRISG
  ETIFVTAPHEATAGIIGVNRKGQVLSVCVEEENIIPYITNVLQNPDLALRMAVRNNLAGAEELFARKFNALFAQG
  NYSEAAKVAANAPKGILRTPDTIRRFQSVPAQPGQTSPLLQYFGILLDQGQLNKYESLELCRPVLQQGRKQLLEK
  WLKEDKLECSEELGDLVKSVDPTLALSVYLRANVPNKVIQCFAETGQVQKIVLYAKKVGYTPDWIFLLRNVMRIS
  PDQGQQFAQMLVQDEEPLADITQIVDVFMEYNLIQQCTAFLLDALKNNRPSEGPLQTRLLEMNLMHAPQVADAIL
  GNQMFTHYDRAHIAQLCEKAGLLQRALEHFTDLYDIKRAVVHTHLLNPEWLVNYFGSLSVEDSLECLRAMLSANI
  RQNLQICVQVASKYHEQLSTQSLIELFESFKSFEGLFYFLGSIVNFSQDPDVHFKYIQAACKTGQIKEVERICRE
  SNCYDPERVKNFLKEAKLTDQLPLIIVCDRFDFVHDLVLYLYRNNLQKYIEIYVQKVNPSRLPVVIGGLLDVDCS
  EDVIKNLILVVRGQFSTDELVAEVEKRNRLKLLLPWLEARIHEGCEEPATHNALAKIYIDSNNNPERFLRENPYY
  DSRVVGKYCEKRDPHLACVAYERGQCDLELINVCNENSLFKSLSRYLVRRKDPELWGSVLLESNPYRRPLIDQVV
  QTALSETQDPEEVSVTVKAFMTADLPNELIELLEKIVLDNSVFSEHRNLQNLLILTAIKADRTRVMEYINRLDNY
  DAPDIANIAISNELFEEAFAIFRKFDVNTSAVQVLIEHIGNLDRAYEFAERCNEPAVWSQLAKAQLQKGMVKEAI
  DSYIKADDPSSYMEVVQAANTSGNWEELVKYLQMARKKARESYVETELIFALAKTNRLAELEEFINGPNNAHIQQ
  VGDRCYDEKMYDAAKLLYNNVSNFGRLASTLVHLGEYQAAVDGARKANSTRTWKEVCFACVDGKEFRLAQMCGLH
  IVVHADELEELINYYQDRGYFEELITMLEAALGLERAHMGMFTELAILYSKFKPQKMREHLELFWSRVNIPKVLR
  AAEQAHLWAELVFLYDKYEEYDNAIITMMNHPTDAWKEGQFKDIITKVANVELYYRAIQFYLEFKPLLLNDLLMV
  LSPRLDHTRAVNYFSKVKQLPLVKPYLRSVQNHNNKSVNESLNNLFITEEDYQALRTSIDAYDNFDNISLAQRLE
  KHELIEFRRIAAYLFKGNNRWKQSVELCKKDSLYKDAMQYASESKDTELAEELLQWFLQEEKRECFGACLFTCYD
  LLRPDVVLETAWRHNIMDFAMPYFIQVMKEYLTKVDKLDASESLRKEEEQATETQPIVYGQPQLMLTAGPSVAVP
  PQAPFGYGYTAPPYGQPQPGFGYSM

• Structural information:
  • Interpro: IPR016024  IPR000547  IPR015348  IPR016025  IPR022365   IPR016341  IPR011990  
  • Prosite: PS50236
  • PDB: 2XZG 4G55 6E4L 6QNN 6QNP
  • PDBsum: 2XZG 4G55 6E4L 6QNN 6QNP
  • STRING: ENSP00000479606
• Other Databases: GeneCards:  CLTC  Malacards:  CLTC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0050750	low-density lipoprotein particle receptor binding	IPI	molecular function
GO:0150093	amyloid-beta clearance by transcytosis	IMP	biological process
GO:0045334	clathrin-coated endocytic vesicle	NAS	cellular component
GO:0072583	clathrin-dependent endocytosis	IMP	biological process
GO:0019901	protein kinase binding	ISS	molecular function
GO:0005819	spindle	IBA	cellular component
GO:0006898	receptor-mediated endocytosis	IBA	biological process
GO:0048268	clathrin coat assembly	IBA	biological process
GO:0000278	mitotic cell cycle	IBA	biological process
GO:0032051	clathrin light chain binding	IBA	molecular function
GO:0045334	clathrin-coated endocytic vesicle	IBA	cellular component
GO:0071439	clathrin complex	IBA	cellular component
GO:1900126	negative regulation of hyaluronan biosynthetic process	IDA	biological process
GO:0030136	clathrin-coated vesicle	IDA	cellular component
GO:0005819	spindle	IDA	cellular component
GO:1990498	mitotic spindle microtubule	IDA	cellular component
GO:1900126	negative regulation of hyaluronan biosynthetic process	IMP	biological process
GO:0000278	mitotic cell cycle	IMP	biological process
GO:0006898	receptor-mediated endocytosis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0060236	regulation of mitotic spindle organization	IMP	biological process
GO:0005198	structural molecule activity	IEA	molecular function
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0032051	clathrin light chain binding	IEA	molecular function
GO:0071439	clathrin complex	IEA	cellular component
GO:0006886	intracellular protein transport	IEA	biological process
GO:0030130	clathrin coat of trans-Golgi network vesicle	IEA	cellular component
GO:0030132	clathrin coat of coated pit	IEA	cellular component
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0051301	cell division	IEA	biological process
GO:0006914	autophagy	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0003725	double-stranded RNA binding	IDA	molecular function
GO:0032051	clathrin light chain binding	IPI	molecular function
GO:0071439	clathrin complex	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS	biological process
GO:0030669	clathrin-coated endocytic vesicle membrane	TAS	cellular component
GO:0032802	low-density lipoprotein particle receptor catabolic process	TAS	biological process
GO:0034383	low-density lipoprotein particle clearance	TAS	biological process
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0036020	endolysosome membrane	TAS	cellular component
GO:0036020	endolysosome membrane	TAS	cellular component
GO:0036020	endolysosome membrane	TAS	cellular component
GO:0036020	endolysosome membrane	TAS	cellular component
GO:0036020	endolysosome membrane	TAS	cellular component
GO:0061024	membrane organization	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0033572	transferrin transport	IMP	biological process
GO:0031623	receptor internalization	IMP	biological process
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0042470	melanosome	IEA	cellular component
GO:0072686	mitotic spindle	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0005768	endosome	IDA	cellular component
GO:0030118	clathrin coat	IMP	cellular component
GO:0097718	disordered domain specific binding	IPI	molecular function
GO:0048268	clathrin coat assembly	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:1903077	negative regulation of protein localization to plasma membrane	IMP	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0030118	clathrin coat	NAS	cellular component
GO:0005925	focal adhesion	HDA	cellular component
GO:0005198	structural molecule activity	NAS	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0001649	osteoblast differentiation	HDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:1903561	extracellular vesicle	HDA	cellular component
GO:0006886	intracellular protein transport	NAS	biological process
GO:0016020	membrane	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:1990381	ubiquitin-specific protease binding	IPI	molecular function
GO:0042147	retrograde transport, endosome to Golgi	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05016	Huntington disease
hsa04144	Endocytosis
hsa04142	Lysosome
hsa04721	Synaptic vesicle cycle
hsa05100	Bacterial invasion of epithelial cells
hsa04961	Endocrine and other factor-regulated calcium reabsorption

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881