ENSG00000141367


Homo sapiens

Features
Gene ID: ENSG00000141367
  
Biological name :CLTC
  
Synonyms : clathrin heavy chain / CLTC / Q00610
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: 1
Band: q23.1
Gene start: 59619689
Gene end: 59696956
  
Corresponding Affymetrix probe sets: 200614_at (Human Genome U133 Plus 2.0 Array)   210498_at (Human Genome U133 Plus 2.0 Array)   239871_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000465200
Ensembl peptide - ENSP00000463336
Ensembl peptide - ENSP00000479606
Ensembl peptide - ENSP00000269122
Ensembl peptide - ENSP00000376763
Ensembl peptide - ENSP00000461977
Ensembl peptide - ENSP00000462252
Ensembl peptide - ENSP00000462592
Ensembl peptide - ENSP00000463068
NCBI entrez gene - 1213     See in Manteia.
OMIM - 118955
RefSeq - XM_005257012
RefSeq - NM_001288653
RefSeq - NM_004859
RefSeq Peptide - NP_001275582
RefSeq Peptide - NP_004850
swissprot - J3QL20
swissprot - K7EJJ5
swissprot - Q00610
swissprot - A0A087WVQ6
swissprot - J3KRF5
swissprot - J3KSQ2
swissprot - J3KS13
swissprot - J3KTN1
Ensembl - ENSG00000141367
  
Related genetic diseases (OMIM): 617854 - Mental retardation, autosomal dominant 56, 617854
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cltcbENSDARG00000090716Danio rerio
 CLTCENSGALG00000005139Gallus gallus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CLTCL1 / P53675 / clathrin heavy chain like 1ENSG0000007037182


Protein motifs (from Interpro)
Interpro ID Name
 IPR000547  Clathrin, heavy chain/VPS, 7-fold repeat
 IPR011990  Tetratricopeptide-like helical domain superfamily
 IPR012331  Clathrin, heavy chain, linker
 IPR015348  Clathrin, heavy chain, linker, core motif
 IPR016024  Armadillo-type fold
 IPR016341  Clathrin, heavy chain
 IPR022365  Clathrin, heavy chain, propeller repeat


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000278 mitotic cell cycle IMP
 biological_processGO:0001649 osteoblast differentiation HDA
 biological_processGO:0006886 intracellular protein transport IEA
 biological_processGO:0006898 receptor-mediated endocytosis IMP
 biological_processGO:0006914 autophagy IEA
 biological_processGO:0007018 microtubule-based movement TAS
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0016192 vesicle-mediated transport IEA
 biological_processGO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS
 biological_processGO:0031623 receptor internalization IMP
 biological_processGO:0032802 low-density lipoprotein particle receptor catabolic process TAS
 biological_processGO:0033572 transferrin transport IMP
 biological_processGO:0034383 low-density lipoprotein particle clearance TAS
 biological_processGO:0042147 retrograde transport, endosome to Golgi IMP
 biological_processGO:0045056 transcytosis IMP
 biological_processGO:0048268 clathrin coat assembly IEA
 biological_processGO:0051301 cell division IEA
 biological_processGO:0060071 Wnt signaling pathway, planar cell polarity pathway TAS
 biological_processGO:0060236 regulation of mitotic spindle organization IMP
 biological_processGO:0061024 membrane organization TAS
 biological_processGO:0072583 clathrin-dependent endocytosis IMP
 biological_processGO:1900126 negative regulation of hyaluronan biosynthetic process IMP
 biological_processGO:1903077 negative regulation of protein localization to plasma membrane IMP
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005764 lysosome IDA
 cellular_componentGO:0005768 endosome IDA
 cellular_componentGO:0005819 spindle IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005905 clathrin-coated pit IEA
 cellular_componentGO:0005925 focal adhesion HDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030118 clathrin coat NAS
 cellular_componentGO:0030130 clathrin coat of trans-Golgi network vesicle IEA
 cellular_componentGO:0030132 clathrin coat of coated pit IEA
 cellular_componentGO:0030136 clathrin-coated vesicle IDA
 cellular_componentGO:0030659 cytoplasmic vesicle membrane IEA
 cellular_componentGO:0030669 clathrin-coated endocytic vesicle membrane TAS
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0032588 trans-Golgi network membrane TAS
 cellular_componentGO:0032991 protein-containing complex IDA
 cellular_componentGO:0036020 endolysosome membrane TAS
 cellular_componentGO:0042470 melanosome IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 cellular_componentGO:0045334 clathrin-coated endocytic vesicle NAS
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0071439 clathrin complex IEA
 cellular_componentGO:0072686 mitotic spindle IDA
 cellular_componentGO:1903561 extracellular vesicle HDA
 cellular_componentGO:1990498 mitotic spindle microtubule IDA
 molecular_functionGO:0003723 RNA binding HDA
 molecular_functionGO:0003725 double-stranded RNA binding IDA
 molecular_functionGO:0005198 structural molecule activity IEA
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0019901 protein kinase binding ISS
 molecular_functionGO:0032051 clathrin light chain binding IEA
 molecular_functionGO:0050750 low-density lipoprotein particle receptor binding IPI
 molecular_functionGO:0097718 disordered domain specific binding IPI
 molecular_functionGO:1990381 ubiquitin-specific protease binding IPI


Pathways (from Reactome)
Pathway description
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
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


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000004975 DVL2 / O14641 / dishevelled segment polarity protein 2  / reaction / complex
 ENSG00000100030 MAPK1 / P28482 / mitogen-activated protein kinase 1  / complex / reaction
 ENSG00000100246 DNAL4 / O96015 / dynein axonemal light chain 4  / reaction
 ENSG00000109971 HSPA8 / P11142 / heat shock protein family A (Hsp70) member 8  / complex
 ENSG00000122705 CLTA / P09496 / clathrin light chain A  / complex / reaction
 ENSG00000129354 AP1M2 / Q9Y6Q5 / adaptor related protein complex 1 mu 2 subunit  / complex
 ENSG00000114251 WNT5A / P41221 / Wnt family member 5A  / complex / reaction
 ENSG00000042753 AP2S1 / P53680 / adaptor related protein complex 2 sigma 1 subunit  / complex / reaction
 ENSG00000072958 AP1M1 / Q9BXS5 / adaptor related protein complex 1 mu 1 subunit  / complex
 ENSG00000146352 CLVS2 / Q5SYC1 / clavesin 2  / complex
 ENSG00000161203 AP2M1 / Q96CW1 / adaptor related protein complex 2 mu 1 subunit  / complex / reaction
 ENSG00000141480 ARRB2 / P32121 / arrestin beta 2  / reaction / complex
 ENSG00000130164 LDLR / P01130 / low density lipoprotein receptor  / reaction / complex
 ENSG00000183020 AP2A2 / O94973 / adaptor related protein complex 2 alpha 2 subunit  / complex / reaction
 ENSG00000141367 CLTC / Q00610 / clathrin heavy chain  / complex / reaction
 ENSG00000107295 Q99962 / SH3GL2 / SH3 domain containing GRB2 like 2, endophilin A1  / complex / reaction
 ENSG00000198910 L1CAM / P32004 / L1 cell adhesion molecule  / reaction / complex
 ENSG00000006125 AP2B1 / P63010 / adaptor related protein complex 2 beta 1 subunit  / reaction / complex
 ENSG00000237541 P01906 / HLA-DQA2 / major histocompatibility complex, class II, DQ alpha 2  / complex / reaction
 ENSG00000147852 VLDLR / P98155 / very low density lipoprotein receptor  / reaction / complex
 ENSG00000204287 P01903 / HLA-DRA / major histocompatibility complex, class II, DR alpha  / reaction / complex
 ENSG00000070371 CLTCL1 / P53675 / clathrin heavy chain like 1  / complex
 ENSG00000231389 P20036 / HLA-DPA1 / major histocompatibility complex, class II, DP alpha 1  / reaction / complex
 ENSG00000198400 NTRK1 / P04629 / neurotrophic receptor tyrosine kinase 1  / complex / reaction
 ENSG00000196735 P01909 / HLA-DQA1 / major histocompatibility complex, class II, DQ alpha 1  / reaction / complex
 ENSG00000196961 AP2A1 / O95782 / adaptor related protein complex 2 alpha 1 subunit  / reaction / complex
 ENSG00000134259 NGF / P01138 / nerve growth factor  / reaction / complex
 ENSG00000079805 DNM2 / P50570 / dynamin 2  / complex / reaction
 ENSG00000019582 CD74 / P04233 / CD74 molecule  / reaction / complex
 ENSG00000169174 PCSK9 / Q8NBP7 / proprotein convertase subtilisin/kexin type 9  / reaction / complex
 ENSG00000175416 CLTB / P09497 / clathrin light chain B  / complex
 ENSG00000166747 AP1G1 / O43747 / adaptor related protein complex 1 gamma 1 subunit  / complex
 ENSG00000152056 AP1S3 / Q96PC3 / adaptor related protein complex 1 sigma 3 subunit  / complex
 ENSG00000182287 AP1S2 / P56377 / adaptor related protein complex 1 sigma 2 subunit  / complex
 ENSG00000100280 AP1B1 / Q10567 / adaptor related protein complex 1 beta 1 subunit  / complex
 ENSG00000177182 CLVS1 / Q8IUQ0 / clavesin 1  / complex
 ENSG00000106367 AP1S1 / P61966 / adaptor related protein complex 1 sigma 1 subunit  / complex
 ENSG00000090889 KIF4A / O95239 / kinesin family member 4A  / complex / reaction
 ENSG00000226650 KIF4B / Q2VIQ3 / kinesin family member 4B  / complex / reaction
 ENSG00000174804 FZD4 / Q9ULV1 / frizzled class receptor 4  / reaction / complex






 

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