UniProtKB - Q00610 (CLH1_HUMAN)
Clathrin heavy chain 1
CLTC
Functioni
GO - Molecular functioni
- clathrin light chain binding Source: FlyBase
- disordered domain specific binding Source: CAFA
- double-stranded RNA binding Source: MGI
- low-density lipoprotein particle receptor binding Source: ARUK-UCL
- protein kinase binding Source: ParkinsonsUK-UCL
- RNA binding Source: UniProtKB
- structural molecule activity Source: UniProtKB
- ubiquitin-specific protease binding Source: UniProtKB
GO - Biological processi
- amyloid-beta clearance by transcytosis Source: ARUK-UCL
- antigen processing and presentation of exogenous peptide antigen via MHC class II Source: Reactome
- autophagy Source: UniProtKB-KW
- cell division Source: UniProtKB-KW
- clathrin coat assembly Source: CAFA
- clathrin-dependent endocytosis Source: ARUK-UCL
- intracellular protein transport Source: UniProtKB
- low-density lipoprotein particle clearance Source: Reactome
- low-density lipoprotein particle receptor catabolic process Source: Reactome
- membrane organization Source: Reactome
- mitotic cell cycle Source: UniProtKB
- negative regulation of hyaluronan biosynthetic process Source: UniProtKB
- negative regulation of protein localization to plasma membrane Source: UniProtKB
- osteoblast differentiation Source: UniProtKB
- receptor internalization Source: BHF-UCL
- receptor-mediated endocytosis Source: UniProtKB
- regulation of mitotic spindle organization Source: UniProtKB
- retrograde transport, endosome to Golgi Source: UniProtKB
- transferrin transport Source: BHF-UCL
- Wnt signaling pathway, planar cell polarity pathway Source: Reactome
Keywordsi
Biological process | Autophagy, Cell cycle, Cell division, Mitosis |
Enzyme and pathway databases
PathwayCommonsi | Q00610 |
Reactomei | R-HSA-168275, Entry of Influenza Virion into Host Cell via Endocytosis R-HSA-177504, Retrograde neurotrophin signalling R-HSA-190873, Gap junction degradation R-HSA-196025, Formation of annular gap junctions R-HSA-2132295, MHC class II antigen presentation [Q00610-1] R-HSA-3928665, EPH-ephrin mediated repulsion of cells R-HSA-432720, Lysosome Vesicle Biogenesis [Q00610-1] R-HSA-432722, Golgi Associated Vesicle Biogenesis [Q00610-1] R-HSA-437239, Recycling pathway of L1 R-HSA-5099900, WNT5A-dependent internalization of FZD4 R-HSA-5140745, WNT5A-dependent internalization of FZD2, FZD5 and ROR2 R-HSA-8856825, Cargo recognition for clathrin-mediated endocytosis R-HSA-8856828, Clathrin-mediated endocytosis R-HSA-8866427, VLDLR internalisation and degradation R-HSA-8964038, LDL clearance |
SignaLinki | Q00610 |
SIGNORi | Q00610 |
Protein family/group databases
MoonDBi | Q00610, Curated |
TCDBi | 8.A.137.1.1, the clathrin (clathrin) family |
Names & Taxonomyi
Protein namesi | Recommended name: Clathrin heavy chain 12 PublicationsAlternative name(s): Clathrin heavy chain on chromosome 17 Short name: CLH-17 |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000141367.11 |
HGNCi | HGNC:2092, CLTC |
MIMi | 118955, gene |
neXtProti | NX_Q00610 |
Subcellular locationi
Cytoskeleton
- spindle 3 Publications
Other locations
- Cytoplasmic vesicle membrane 1 Publication; Peripheral membrane protein 1 Publication; Cytoplasmic side 1 Publication
- coated pit 1 Publication; Peripheral membrane protein 1 Publication; Cytoplasmic side 1 Publication
- Melanosome 1 Publication
Note: Cytoplasmic face of coated pits and vesicles. Identified by mass spectrometry in melanosome fractions from stage I to stage IV. In complex with TACC3 and CKAP5 (forming the TACC3/ch-TOG/clathrin complex) localized to inter-microtubule bridges in mitotic spindles.1 Publication
Cytoskeleton
- mitotic spindle Source: HPA
- mitotic spindle microtubule Source: UniProtKB
- spindle Source: UniProtKB
Cytosol
- cytosol Source: Reactome
Endosome
- endolysosome membrane Source: Reactome
- endosome Source: HPA
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
- extracellular vesicle Source: UniProtKB
Golgi apparatus
- clathrin coat of trans-Golgi network vesicle Source: InterPro
- trans-Golgi network membrane Source: Reactome
Lysosome
- endolysosome membrane Source: Reactome
- lysosome Source: HPA
Plasma Membrane
- clathrin coat of coated pit Source: InterPro
- plasma membrane Source: Reactome
Other locations
- clathrin coat Source: CAFA
- clathrin complex Source: FlyBase
- clathrin-coated endocytic vesicle Source: GO_Central
- clathrin-coated endocytic vesicle membrane Source: Reactome
- clathrin-coated vesicle Source: UniProtKB
- focal adhesion Source: UniProtKB
- melanosome Source: UniProtKB-SubCell
- membrane Source: UniProtKB
- protein-containing complex Source: MGI
Keywords - Cellular componenti
Coated pit, Cytoplasm, Cytoplasmic vesicle, Cytoskeleton, MembranePathology & Biotechi
Involvement in diseasei
Mental retardation, autosomal dominant 56 (MRD56)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080721 | 554 – 556 | Missing in MRD56; unknown pathological significance. 1 Publication | 3 | |
Natural variantiVAR_080722 | 890 | P → L in MRD56. 1 PublicationCorresponds to variant dbSNP:rs1555606635EnsemblClinVar. | 1 | |
Natural variantiVAR_080723 | 1047 | L → P in MRD56; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1555607159EnsemblClinVar. | 1 | |
Natural variantiVAR_080724 | 1108 | W → R in MRD56; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_080725 | 1199 – 1675 | Missing in MRD56. 1 PublicationAdd BLAST | 477 | |
Natural variantiVAR_080726 | 1207 | Missing in MRD56; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_080727 | 1555 – 1675 | Missing in MRD56. 1 PublicationAdd BLAST | 121 | |
Natural variantiVAR_080728 | 1556 – 1675 | Missing in MRD56. 1 PublicationAdd BLAST | 120 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 65 | P → N: Disrupts spindle localization. 1 Publication | 1 | |
Mutagenesisi | 67 | S → G: Disrupts spindle localization. 1 Publication | 1 | |
Mutagenesisi | 87 | T → A: Disrupts spindle localization. 1 Publication | 1 | |
Mutagenesisi | 89 | Q → A: Disrupts spindle localization. 1 Publication | 1 | |
Mutagenesisi | 96 | K → E: Disrupts spindle localization. 1 Publication | 1 | |
Mutagenesisi | 98 | K → E: Disrupts spindle localization. 1 Publication | 1 | |
Mutagenesisi | 444 | R → E: Disrupts spindle localization; when associated with E-445, E-500 E-506 and E-507. 1 Publication | 1 | |
Mutagenesisi | 445 | K → E: Disrupts spindle localization; when associated with E-444, E-500, E-506 and E-507. 1 Publication | 1 | |
Mutagenesisi | 480 – 484 | LRANV → ERGQC: Disrupts spindle localization and interaction with TACC3. 1 Publication | 5 | |
Mutagenesisi | 481 | R → E: Disrupts spindle localization; when associated with E-487, E-500, E-506 and E-507. 1 Publication | 1 | |
Mutagenesisi | 487 | K → E: Disrupts spindle localization; when associated with E-481, E-500, E-506 and E-507. 1 Publication | 1 | |
Mutagenesisi | 500 | K → E: Disrupts spindle localization; when associated with E-444, E-445, E-506 and E-507. 1 Publication | 1 | |
Mutagenesisi | 500 | K → E: Disrupts spindle localization; when associated with E-481, E-487, E-506 and E-507. 1 Publication | 1 | |
Mutagenesisi | 506 | K → E: Disrupts spindle localization; when associated with E-444, E-445, E-500 and E-507. 1 Publication | 1 | |
Mutagenesisi | 506 | K → E: Disrupts spindle localization; when associated with E-481, E-487, E-500 and E-507. 1 Publication | 1 | |
Mutagenesisi | 507 | K → E: Disrupts spindle localization; when associated with E-444, E-445, E-500 and E-506. 1 Publication | 1 | |
Mutagenesisi | 507 | K → E: Disrupts spindle localization; when associated with E-481, E-487, E-500 and E-506. 1 Publication | 1 |
Keywords - Diseasei
Disease mutation, Mental retardationOrganism-specific databases
DisGeNETi | 1213 |
MalaCardsi | CLTC |
MIMi | 617854, phenotype |
OpenTargetsi | ENSG00000141367 |
Orphaneti | 178469, Autosomal dominant non-syndromic intellectual disability 178342, Inflammatory myofibroblastic tumor 319308, MiT family translocation renal cell carcinoma 442835, Undetermined early-onset epileptic encephalopathy |
PharmGKBi | PA26618 |
Miscellaneous databases
Pharosi | Q00610, Tbio |
Chemistry databases
ChEMBLi | CHEMBL3108634 |
Polymorphism and mutation databases
BioMutai | CLTC |
DMDMi | 1705916 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources2 Publications | |||
ChainiPRO_0000205778 | 2 – 1675 | Clathrin heavy chain 1Add BLAST | 1674 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanineCombined sources1 Publication | 1 | |
Modified residuei | 67 | PhosphoserineCombined sources | 1 | |
Modified residuei | 105 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 184 | PhosphotyrosineBy similarity | 1 | |
Modified residuei | 394 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 634 | PhosphotyrosineCombined sources | 1 | |
Modified residuei | 737 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 856 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 899 | PhosphotyrosineBy similarity | 1 | |
Modified residuei | 1167 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1206 | PhosphotyrosineBy similarity | 1 | |
Modified residuei | 1229 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1441 | N6-acetyllysine; alternateCombined sources | 1 | |
Modified residuei | 1441 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 1477 | PhosphotyrosineCombined sources | 1 | |
Modified residuei | 1487 | PhosphotyrosineBy similarity | 1 | |
Modified residuei | 1494 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1501 | N6-acetyllysineCombined sources | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
CPTACi | CPTAC-182 CPTAC-183 |
EPDi | Q00610 |
jPOSTi | Q00610 |
MassIVEi | Q00610 |
MaxQBi | Q00610 |
PaxDbi | Q00610 |
PeptideAtlasi | Q00610 |
PRIDEi | Q00610 |
ProteomicsDBi | 57862 [Q00610-1] 57863 [Q00610-2] |
PTM databases
iPTMneti | Q00610 |
MetOSitei | Q00610 |
PhosphoSitePlusi | Q00610 |
SwissPalmi | Q00610 |
Expressioni
Gene expression databases
Bgeei | ENSG00000141367, Expressed in dorsolateral prefrontal cortex and 251 other tissues |
ExpressionAtlasi | Q00610, baseline and differential |
Genevisiblei | Q00610, HS |
Organism-specific databases
HPAi | ENSG00000141367, Low tissue specificity |
Interactioni
Subunit structurei
Clathrin triskelions, composed of 3 heavy chains and 3 light chains, are the basic subunits of the clathrin coat (PubMed:16968737). In the presence of light chains, hub assembly is influenced by both the pH and the concentration of calcium.
Interacts with HIP1 (PubMed:11532990).
Interacts with DENND1A, DENND1B and DENND1C (By similarity). May interact with OCRL (By similarity).
Interacts with ERBB2 (PubMed:16314522).
Interacts with FKBP6 (PubMed:18529014).
Interacts with CKAP5 and TACC3 forming the TACC3/ch-TOG/clathrin complex located at spindle inter-microtubules bridges; the complex implicates clathrin triskelions; TACC3 and CLTC are proposed to form a composite microtubule interaction surface (PubMed:21297582).
Interacts with ATG16L1 (via N-terminus) (PubMed:20639872).
Interacts with RFTN1; the interaction occurs in response to pathogens (PubMed:27022195, PubMed:21266579).
Interacts with USP2 isoform 4 (PubMed:26756164).
By similarity9 PublicationsBinary interactionsi
Hide detailsQ00610
GO - Molecular functioni
- clathrin light chain binding Source: FlyBase
- disordered domain specific binding Source: CAFA
- low-density lipoprotein particle receptor binding Source: ARUK-UCL
- protein kinase binding Source: ParkinsonsUK-UCL
- ubiquitin-specific protease binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 107623, 392 interactors |
CORUMi | Q00610 |
ELMi | Q00610 |
IntActi | Q00610, 228 interactors |
MINTi | Q00610 |
STRINGi | 9606.ENSP00000479606 |
Chemistry databases
BindingDBi | Q00610 |
Miscellaneous databases
RNActi | Q00610, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q00610 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q00610 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 537 – 683 | CHCR 1PROSITE-ProRule annotation1 PublicationAdd BLAST | 147 | |
Repeati | 686 – 828 | CHCR 2PROSITE-ProRule annotation1 PublicationAdd BLAST | 143 | |
Repeati | 833 – 972 | CHCR 3PROSITE-ProRule annotation1 PublicationAdd BLAST | 140 | |
Repeati | 979 – 1124 | CHCR 4PROSITE-ProRule annotation1 PublicationAdd BLAST | 146 | |
Repeati | 1128 – 1269 | CHCR 5PROSITE-ProRule annotation1 PublicationAdd BLAST | 142 | |
Repeati | 1274 – 1420 | CHCR 6PROSITE-ProRule annotation1 PublicationAdd BLAST | 147 | |
Repeati | 1423 – 1566 | CHCR 7PROSITE-ProRule annotation1 PublicationAdd BLAST | 144 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 2 – 479 | Globular terminal domainAdd BLAST | 478 | |
Regioni | 24 – 67 | WD40-like repeat 1Add BLAST | 44 | |
Regioni | 68 – 107 | WD40-like repeat 2Add BLAST | 40 | |
Regioni | 108 – 149 | WD40-like repeat 3Add BLAST | 42 | |
Regioni | 150 – 195 | WD40-like repeat 4Add BLAST | 46 | |
Regioni | 196 – 257 | WD40-like repeat 5Add BLAST | 62 | |
Regioni | 258 – 301 | WD40-like repeat 6Add BLAST | 44 | |
Regioni | 302 – 330 | WD40-like repeat 7Add BLAST | 29 | |
Regioni | 449 – 465 | Binding site for the uncoating ATPase, involved in lattice disassemblySequence analysisAdd BLAST | 17 | |
Regioni | 457 – 507 | Involved in spindle localization and interaction with TACC31 PublicationAdd BLAST | 51 | |
Regioni | 480 – 523 | Flexible linkerAdd BLAST | 44 | |
Regioni | 524 – 1675 | Heavy chain armAdd BLAST | 1152 | |
Regioni | 524 – 634 | Distal segmentAdd BLAST | 111 | |
Regioni | 639 – 1675 | Proximal segmentAdd BLAST | 1037 | |
Regioni | 1213 – 1522 | Involved in binding clathrin light chainBy similarityAdd BLAST | 310 | |
Regioni | 1550 – 1675 | TrimerizationBy similarityAdd BLAST | 126 |
Domaini
Sequence similaritiesi
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | KOG0985, Eukaryota |
GeneTreei | ENSGT00950000183166 |
HOGENOMi | CLU_002136_0_0_1 |
InParanoidi | Q00610 |
OrthoDBi | 17940at2759 |
PhylomeDBi | Q00610 |
TreeFami | TF300059 |
Family and domain databases
Gene3Di | 1.25.40.10, 4 hits 2.130.10.110, 1 hit |
IDEALi | IID00662 |
InterProi | View protein in InterPro IPR016024, ARM-type_fold IPR000547, Clathrin_H-chain/VPS_repeat IPR015348, Clathrin_H-chain_linker_core IPR016025, Clathrin_H-chain_N IPR022365, Clathrin_H-chain_propeller_rpt IPR016341, Clathrin_heavy_chain IPR011990, TPR-like_helical_dom_sf |
Pfami | View protein in Pfam PF00637, Clathrin, 7 hits PF09268, Clathrin-link, 1 hit PF01394, Clathrin_propel, 5 hits |
PIRSFi | PIRSF002290, Clathrin_H_chain, 1 hit |
SMARTi | View protein in SMART SM00299, CLH, 7 hits |
SUPFAMi | SSF48371, SSF48371, 6 hits SSF50989, SSF50989, 1 hit |
PROSITEi | View protein in PROSITE PS50236, CHCR, 7 hits |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAQILPIRFQ EHLQLQNLGI NPANIGFSTL TMESDKFICI REKVGEQAQV
60 70 80 90 100
VIIDMNDPSN PIRRPISADS AIMNPASKVI ALKAGKTLQI FNIEMKSKMK
110 120 130 140 150
AHTMTDDVTF WKWISLNTVA LVTDNAVYHW SMEGESQPVK MFDRHSSLAG
160 170 180 190 200
CQIINYRTDA KQKWLLLTGI SAQQNRVVGA MQLYSVDRKV SQPIEGHAAS
210 220 230 240 250
FAQFKMEGNA EESTLFCFAV RGQAGGKLHI IEVGTPPTGN QPFPKKAVDV
260 270 280 290 300
FFPPEAQNDF PVAMQISEKH DVVFLITKYG YIHLYDLETG TCIYMNRISG
310 320 330 340 350
ETIFVTAPHE ATAGIIGVNR KGQVLSVCVE EENIIPYITN VLQNPDLALR
360 370 380 390 400
MAVRNNLAGA EELFARKFNA LFAQGNYSEA AKVAANAPKG ILRTPDTIRR
410 420 430 440 450
FQSVPAQPGQ TSPLLQYFGI LLDQGQLNKY ESLELCRPVL QQGRKQLLEK
460 470 480 490 500
WLKEDKLECS EELGDLVKSV DPTLALSVYL RANVPNKVIQ CFAETGQVQK
510 520 530 540 550
IVLYAKKVGY TPDWIFLLRN VMRISPDQGQ QFAQMLVQDE EPLADITQIV
560 570 580 590 600
DVFMEYNLIQ QCTAFLLDAL KNNRPSEGPL QTRLLEMNLM HAPQVADAIL
610 620 630 640 650
GNQMFTHYDR AHIAQLCEKA GLLQRALEHF TDLYDIKRAV VHTHLLNPEW
660 670 680 690 700
LVNYFGSLSV EDSLECLRAM LSANIRQNLQ ICVQVASKYH EQLSTQSLIE
710 720 730 740 750
LFESFKSFEG LFYFLGSIVN FSQDPDVHFK YIQAACKTGQ IKEVERICRE
760 770 780 790 800
SNCYDPERVK NFLKEAKLTD QLPLIIVCDR FDFVHDLVLY LYRNNLQKYI
810 820 830 840 850
EIYVQKVNPS RLPVVIGGLL DVDCSEDVIK NLILVVRGQF STDELVAEVE
860 870 880 890 900
KRNRLKLLLP WLEARIHEGC EEPATHNALA KIYIDSNNNP ERFLRENPYY
910 920 930 940 950
DSRVVGKYCE KRDPHLACVA YERGQCDLEL INVCNENSLF KSLSRYLVRR
960 970 980 990 1000
KDPELWGSVL LESNPYRRPL IDQVVQTALS ETQDPEEVSV TVKAFMTADL
1010 1020 1030 1040 1050
PNELIELLEK IVLDNSVFSE HRNLQNLLIL TAIKADRTRV MEYINRLDNY
1060 1070 1080 1090 1100
DAPDIANIAI SNELFEEAFA IFRKFDVNTS AVQVLIEHIG NLDRAYEFAE
1110 1120 1130 1140 1150
RCNEPAVWSQ LAKAQLQKGM VKEAIDSYIK ADDPSSYMEV VQAANTSGNW
1160 1170 1180 1190 1200
EELVKYLQMA RKKARESYVE TELIFALAKT NRLAELEEFI NGPNNAHIQQ
1210 1220 1230 1240 1250
VGDRCYDEKM YDAAKLLYNN VSNFGRLAST LVHLGEYQAA VDGARKANST
1260 1270 1280 1290 1300
RTWKEVCFAC VDGKEFRLAQ MCGLHIVVHA DELEELINYY QDRGYFEELI
1310 1320 1330 1340 1350
TMLEAALGLE RAHMGMFTEL AILYSKFKPQ KMREHLELFW SRVNIPKVLR
1360 1370 1380 1390 1400
AAEQAHLWAE LVFLYDKYEE YDNAIITMMN HPTDAWKEGQ FKDIITKVAN
1410 1420 1430 1440 1450
VELYYRAIQF YLEFKPLLLN DLLMVLSPRL DHTRAVNYFS KVKQLPLVKP
1460 1470 1480 1490 1500
YLRSVQNHNN KSVNESLNNL FITEEDYQAL RTSIDAYDNF DNISLAQRLE
1510 1520 1530 1540 1550
KHELIEFRRI AAYLFKGNNR WKQSVELCKK DSLYKDAMQY ASESKDTELA
1560 1570 1580 1590 1600
EELLQWFLQE EKRECFGACL FTCYDLLRPD VVLETAWRHN IMDFAMPYFI
1610 1620 1630 1640 1650
QVMKEYLTKV DKLDASESLR KEEEQATETQ PIVYGQPQLM LTAGPSVAVP
1660 1670
PQAPFGYGYT APPYGQPQPG FGYSM
Computationally mapped potential isoform sequencesi
There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A087WVQ6 | A0A087WVQ6_HUMAN | Clathrin heavy chain | CLTC hCG_1818599 | 1,679 | Annotation score: | ||
J3KS13 | J3KS13_HUMAN | Clathrin heavy chain 1 | CLTC | 612 | Annotation score: | ||
K7EJJ5 | K7EJJ5_HUMAN | Clathrin heavy chain 1 | CLTC | 222 | Annotation score: | ||
J3KSQ2 | J3KSQ2_HUMAN | Clathrin heavy chain 1 | CLTC | 122 | Annotation score: | ||
J3QL20 | J3QL20_HUMAN | Clathrin heavy chain 1 | CLTC | 97 | Annotation score: | ||
J3KRF5 | J3KRF5_HUMAN | Clathrin heavy chain 1 | CLTC | 131 | Annotation score: | ||
J3KTN1 | J3KTN1_HUMAN | Clathrin heavy chain 1 | CLTC | 24 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 560 | Q → R in CAA39363 (PubMed:1765375).Curated | 1 | |
Sequence conflicti | 817 | G → V in CAA39363 (PubMed:1765375).Curated | 1 | |
Sequence conflicti | 923 | R → H in CAE45761 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 1563 | R → G in CAE45761 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 1652 | Q → R in CAE45761 (PubMed:17974005).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080721 | 554 – 556 | Missing in MRD56; unknown pathological significance. 1 Publication | 3 | |
Natural variantiVAR_080722 | 890 | P → L in MRD56. 1 PublicationCorresponds to variant dbSNP:rs1555606635EnsemblClinVar. | 1 | |
Natural variantiVAR_080723 | 1047 | L → P in MRD56; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1555607159EnsemblClinVar. | 1 | |
Natural variantiVAR_080724 | 1108 | W → R in MRD56; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_080725 | 1199 – 1675 | Missing in MRD56. 1 PublicationAdd BLAST | 477 | |
Natural variantiVAR_080726 | 1207 | Missing in MRD56; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_080727 | 1555 – 1675 | Missing in MRD56. 1 PublicationAdd BLAST | 121 | |
Natural variantiVAR_080728 | 1556 – 1675 | Missing in MRD56. 1 PublicationAdd BLAST | 120 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_011570 | 1636 – 1639 | QPQL → NLSL in isoform 2. 1 Publication | 4 | |
Alternative sequenceiVSP_011571 | 1640 – 1675 | Missing in isoform 2. 1 PublicationAdd BLAST | 36 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | D21260 mRNA Translation: BAA04801.2 Different initiation. BX640615 mRNA Translation: CAE45761.1 CH471109 Genomic DNA Translation: EAW94396.1 CH471109 Genomic DNA Translation: EAW94399.1 BC051800 mRNA Translation: AAH51800.1 BC054489 mRNA Translation: AAH54489.1 X55878 mRNA Translation: CAA39363.1 |
CCDSi | CCDS32696.1 [Q00610-1] |
PIRi | A40573 |
RefSeqi | NP_004850.1, NM_004859.3 [Q00610-1] |
Genome annotation databases
Ensembli | ENST00000269122; ENSP00000269122; ENSG00000141367 [Q00610-1] ENST00000393043; ENSP00000376763; ENSG00000141367 [Q00610-2] |
GeneIDi | 1213 |
KEGGi | hsa:1213 |
UCSCi | uc002ixp.4, human [Q00610-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
Wikipedia Clathrin entry |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | D21260 mRNA Translation: BAA04801.2 Different initiation. BX640615 mRNA Translation: CAE45761.1 CH471109 Genomic DNA Translation: EAW94396.1 CH471109 Genomic DNA Translation: EAW94399.1 BC051800 mRNA Translation: AAH51800.1 BC054489 mRNA Translation: AAH54489.1 X55878 mRNA Translation: CAA39363.1 |
CCDSi | CCDS32696.1 [Q00610-1] |
PIRi | A40573 |
RefSeqi | NP_004850.1, NM_004859.3 [Q00610-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2XZG | X-ray | 1.70 | A | 1-364 | [»] | |
4G55 | X-ray | 1.69 | A | 1-364 | [»] | |
6E4L | X-ray | 1.60 | A | 1-364 | [»] | |
6QNN | X-ray | 2.03 | A | 1-364 | [»] | |
6QNP | X-ray | 2.70 | A/B/C/D | 1-364 | [»] | |
SMRi | Q00610 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 107623, 392 interactors |
CORUMi | Q00610 |
ELMi | Q00610 |
IntActi | Q00610, 228 interactors |
MINTi | Q00610 |
STRINGi | 9606.ENSP00000479606 |
Chemistry databases
BindingDBi | Q00610 |
ChEMBLi | CHEMBL3108634 |
Protein family/group databases
MoonDBi | Q00610, Curated |
TCDBi | 8.A.137.1.1, the clathrin (clathrin) family |
PTM databases
iPTMneti | Q00610 |
MetOSitei | Q00610 |
PhosphoSitePlusi | Q00610 |
SwissPalmi | Q00610 |
Polymorphism and mutation databases
BioMutai | CLTC |
DMDMi | 1705916 |
Proteomic databases
CPTACi | CPTAC-182 CPTAC-183 |
EPDi | Q00610 |
jPOSTi | Q00610 |
MassIVEi | Q00610 |
MaxQBi | Q00610 |
PaxDbi | Q00610 |
PeptideAtlasi | Q00610 |
PRIDEi | Q00610 |
ProteomicsDBi | 57862 [Q00610-1] 57863 [Q00610-2] |
Protocols and materials databases
ABCDi | Q00610, 1 sequenced antibody |
Antibodypediai | 4164, 484 antibodies |
DNASUi | 1213 |
Genome annotation databases
Ensembli | ENST00000269122; ENSP00000269122; ENSG00000141367 [Q00610-1] ENST00000393043; ENSP00000376763; ENSG00000141367 [Q00610-2] |
GeneIDi | 1213 |
KEGGi | hsa:1213 |
UCSCi | uc002ixp.4, human [Q00610-1] |
Organism-specific databases
CTDi | 1213 |
DisGeNETi | 1213 |
EuPathDBi | HostDB:ENSG00000141367.11 |
GeneCardsi | CLTC |
HGNCi | HGNC:2092, CLTC |
HPAi | ENSG00000141367, Low tissue specificity |
MalaCardsi | CLTC |
MIMi | 118955, gene 617854, phenotype |
neXtProti | NX_Q00610 |
OpenTargetsi | ENSG00000141367 |
Orphaneti | 178469, Autosomal dominant non-syndromic intellectual disability 178342, Inflammatory myofibroblastic tumor 319308, MiT family translocation renal cell carcinoma 442835, Undetermined early-onset epileptic encephalopathy |
PharmGKBi | PA26618 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0985, Eukaryota |
GeneTreei | ENSGT00950000183166 |
HOGENOMi | CLU_002136_0_0_1 |
InParanoidi | Q00610 |
OrthoDBi | 17940at2759 |
PhylomeDBi | Q00610 |
TreeFami | TF300059 |
Enzyme and pathway databases
PathwayCommonsi | Q00610 |
Reactomei | R-HSA-168275, Entry of Influenza Virion into Host Cell via Endocytosis R-HSA-177504, Retrograde neurotrophin signalling R-HSA-190873, Gap junction degradation R-HSA-196025, Formation of annular gap junctions R-HSA-2132295, MHC class II antigen presentation [Q00610-1] R-HSA-3928665, EPH-ephrin mediated repulsion of cells R-HSA-432720, Lysosome Vesicle Biogenesis [Q00610-1] R-HSA-432722, Golgi Associated Vesicle Biogenesis [Q00610-1] R-HSA-437239, Recycling pathway of L1 R-HSA-5099900, WNT5A-dependent internalization of FZD4 R-HSA-5140745, WNT5A-dependent internalization of FZD2, FZD5 and ROR2 R-HSA-8856825, Cargo recognition for clathrin-mediated endocytosis R-HSA-8856828, Clathrin-mediated endocytosis R-HSA-8866427, VLDLR internalisation and degradation R-HSA-8964038, LDL clearance |
SignaLinki | Q00610 |
SIGNORi | Q00610 |
Miscellaneous databases
BioGRID-ORCSi | 1213, 612 hits in 848 CRISPR screens |
ChiTaRSi | CLTC, human |
EvolutionaryTracei | Q00610 |
GeneWikii | CLTC |
GenomeRNAii | 1213 |
Pharosi | Q00610, Tbio |
PROi | PR:Q00610 |
RNActi | Q00610, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000141367, Expressed in dorsolateral prefrontal cortex and 251 other tissues |
ExpressionAtlasi | Q00610, baseline and differential |
Genevisiblei | Q00610, HS |
Family and domain databases
Gene3Di | 1.25.40.10, 4 hits 2.130.10.110, 1 hit |
IDEALi | IID00662 |
InterProi | View protein in InterPro IPR016024, ARM-type_fold IPR000547, Clathrin_H-chain/VPS_repeat IPR015348, Clathrin_H-chain_linker_core IPR016025, Clathrin_H-chain_N IPR022365, Clathrin_H-chain_propeller_rpt IPR016341, Clathrin_heavy_chain IPR011990, TPR-like_helical_dom_sf |
Pfami | View protein in Pfam PF00637, Clathrin, 7 hits PF09268, Clathrin-link, 1 hit PF01394, Clathrin_propel, 5 hits |
PIRSFi | PIRSF002290, Clathrin_H_chain, 1 hit |
SMARTi | View protein in SMART SM00299, CLH, 7 hits |
SUPFAMi | SSF48371, SSF48371, 6 hits SSF50989, SSF50989, 1 hit |
PROSITEi | View protein in PROSITE PS50236, CHCR, 7 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CLH1_HUMAN | |
Accessioni | Q00610Primary (citable) accession number: Q00610 Secondary accession number(s): D3DU00, Q6N0A0, Q86TF2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 1, 1992 |
Last sequence update: | January 23, 2007 | |
Last modified: | December 2, 2020 | |
This is version 213 of the entry and version 5 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations