• Gene id: 8218

Gene Summary

• Gene Symbol: CLTCL1   Gene   UCSC   Ensembl
• Aliases: CHC22, CLH22, CLTCL, CLTD
• Gene name: clathrin heavy chain like 1
• Alternate names: clathrin heavy chain 2, CLH-22, Clathrin, heavy polypeptide D, clathrin heavy chain on chromosome 22, clathrin, heavy polypeptide-like 1,
• Gene location: 22q11.21 (19291718: 19179472)     Exons: 34     NC_000022.11
• Gene summary(Entrez): This gene is a member of the clathrin heavy chain family and encodes a major protein of the polyhedral coat of coated pits and vesicles. Chromosomal aberrations involving this gene are associated with meningioma, DiGeorge syndrome, and velo-cardio-facial
• OMIM: 601273

Protein Summary

• Protein general information: P53675  
  • Name: Clathrin heavy chain 2 (Clathrin heavy chain on chromosome 22) (CLH 22)
  • Length: 1640  
  • Mass: 187030
  • Tissue specificity: Maximal levels in skeletal muscle. High levels in heart and testis. Low expression detected in all other tissues.
• Sequence:

  MAQILPVRFQEHFQLQNLGINPANIGFSTLTMESDKFICIREKVGEQAQVTIIDMSDPMAPIRRPISAESAIMNP
  ASKVIALKAGKTLQIFNIEMKSKMKAHTMAEEVIFWKWVSVNTVALVTETAVYHWSMEGDSQPMKMFDRHTSLVG
  CQVIHYRTDEYQKWLLLVGISAQQNRVVGAMQLYSVDRKVSQPIEGHAAAFAEFKMEGNAKPATLFCFAVRNPTG
  GKLHIIEVGQPAAGNQPFVKKAVDVFFPPEAQNDFPVAMQIGAKHGVIYLITKYGYLHLYDLESGVCICMNRISA
  DTIFVTAPHKPTSGIIGVNKKGQVLSVCVEEDNIVNYATNVLQNPDLGLRLAVRSNLAGAEKLFVRKFNTLFAQG
  SYAEAAKVAASAPKGILRTRETVQKFQSIPAQSGQASPLLQYFGILLDQGQLNKLESLELCHLVLQQGRKQLLEK
  WLKEDKLECSEELGDLVKTTDPMLALSVYLRANVPSKVIQCFAETGQFQKIVLYAKKVGYTPDWIFLLRGVMKIS
  PEQGLQFSRMLVQDEEPLANISQIVDIFMENSLIQQCTSFLLDALKNNRPAEGLLQTWLLEMNLVHAPQVADAIL
  GNKMFTHYDRAHIAQLCEKAGLLQQALEHYTDLYDIKRAVVHTHLLNPEWLVNFFGSLSVEDSVECLHAMLSANI
  RQNLQLCVQVASKYHEQLGTQALVELFESFKSYKGLFYFLGSIVNFSQDPDVHLKYIQAACKTGQIKEVERICRE
  SSCYNPERVKNFLKEAKLTDQLPLIIVCDRFGFVHDLVLYLYRNNLQRYIEIYVQKVNPSRTPAVIGGLLDVDCS
  EEVIKHLIMAVRGQFSTDELVAEVEKRNRLKLLLPWLESQIQEGCEEPATHNALAKIYIDSNNSPECFLRENAYY
  DSSVVGRYCEKRDPHLACVAYERGQCDLELIKVCNENSLFKSEARYLVCRKDPELWAHVLEETNPSRRQLIDQVV
  QTALSETRDPEEISVTVKAFMTADLPNELIELLEKIVLDNSVFSEHRNLQNLLILTAIKADRTRVMEYISRLDNY
  DALDIASIAVSSALYEEAFTVFHKFDMNASAIQVLIEHIGNLDRAYEFAERCNEPAVWSQLAQAQLQKDLVKEAI
  NSYIRGDDPSSYLEVVQSASRSNNWEDLVKFLQMARKKGRESYIETELIFALAKTSRVSELEDFINGPNNAHIQQ
  VGDRCYEEGMYEAAKLLYSNVSNFARLASTLVHLGEYQAAVDNSRKASSTRTWKEVCFACMDGQEFRFAQLCGLH
  IVIHADELEELMCYYQDRGYFEELILLLEAALGLERAHMGMFTELAILYSKFKPQKMLEHLELFWSRVNIPKVLR
  AAEQAHLWAELVFLYDKYEEYDNAVLTMMSHPTEAWKEGQFKDIITKVANVELCYRALQFYLDYKPLLINDLLLV
  LSPRLDHTWTVSFFSKAGQLPLVKPYLRSVQSHNNKSVNEALNHLLTEEEDYQGLRASIDAYDNFDNISLAQQLE
  KHQLMEFRCIAAYLYKGNNWWAQSVELCKKDHLYKDAMQHAAESRDAELAQKLLQWFLEEGKRECFAACLFTCYD
  LLRPDMVLELAWRHNLVDLAMPYFIQVMREYLSKVDKLDALESLRKQEEHVTEPAPLVFDFDGHE

• Structural information:
  • Interpro: IPR016024  IPR000547  IPR015348  IPR016025  IPR022365   IPR016341  IPR011990  
  • Prosite: PS50236
  • STRING: ENSP00000441158
• Other Databases: GeneCards:  CLTCL1  Malacards:  CLTCL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045334	clathrin-coated endocytic vesicle	NAS	cellular component
GO:0071439	clathrin complex	IBA	cellular component
GO:0045334	clathrin-coated endocytic vesicle	IBA	cellular component
GO:0032051	clathrin light chain binding	IBA	molecular function
GO:0006898	receptor-mediated endocytosis	IBA	biological process
GO:0030135	coated vesicle	IDA	cellular component
GO:0000278	mitotic cell cycle	IDA	biological process
GO:0005905	clathrin-coated pit	IDA	cellular component
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0030136	clathrin-coated vesicle	IDA	cellular component
GO:0006898	receptor-mediated endocytosis	IDA	biological process
GO:0005819	spindle	IDA	cellular component
GO:0046326	positive regulation of glucose import	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:0005515	protein binding	IPI	molecular function
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:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0009653	anatomical structure morphogenesis	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:0061024	membrane organization	TAS	biological process
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0000278	mitotic cell cycle	IDA	NOT|biological process
GO:0097443	sorting endosome	IDA	cellular component
GO:0055037	recycling endosome	IDA	NOT|cellular component
GO:0005886	plasma membrane	IDA	NOT|cellular component
GO:0005769	early endosome	IDA	NOT|cellular component
GO:0005770	late endosome	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0042147	retrograde transport, endosome to Golgi	IMP	biological process
GO:0016020	membrane	HDA	cellular component

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
Cryptorchidism	MIK: 28606200
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq