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UniProtKB - Q00610 (CLH1_HUMAN)

Protein

Clathrin heavy chain 1

Gene

CLTC

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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 component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stabilization of kinetochore fibers of the mitotic spindle by acting as inter-microtubule bridge (PubMed:15858577, PubMed:16968737, PubMed:21297582). The TACC3/ch-TOG/clathrin complex is required for the maintenance of kinetochore fiber tension (PubMed:23532825). Plays a role in early autophagosome formation (PubMed:20639872).5 Publications

GO - Molecular functioni

  • ankyrin binding Source: GO_Central
  • arrestin family protein binding Source: GO_Central
  • clathrin light chain binding Source: FlyBase
  • disordered domain specific binding Source: CAFA
  • double-stranded RNA binding Source: MGI
  • heat shock protein binding Source: GO_Central
  • identical protein binding Source: GO_Central
  • low-density lipoprotein particle receptor binding Source: ARUK-UCL
  • peptide binding Source: GO_Central
  • protein kinase binding Source: ParkinsonsUK-UCL
  • RNA binding Source: UniProtKB
  • structural molecule activity Source: UniProtKB
  • ubiquitin-specific protease binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processAutophagy, Cell cycle, Cell division, Mitosis

Enzyme and pathway databases

ReactomeiR-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
R-HSA-3928665 EPH-ephrin mediated repulsion of cells
R-HSA-432720 Lysosome Vesicle Biogenesis
R-HSA-432722 Golgi Associated Vesicle Biogenesis
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
SignaLinkiQ00610
SIGNORiQ00610

Protein family/group databases

MoonDBiQ00610 Curated

Names & Taxonomyi

Protein namesi
Recommended name:
Clathrin heavy chain 12 Publications
Alternative name(s):
Clathrin heavy chain on chromosome 17
Short name:
CLH-17
Gene namesi
Name:CLTC2 PublicationsImported
Synonyms:CLH17, CLTCL2, KIAA0034
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000141367.11
HGNCiHGNC:2092 CLTC
MIMi118955 gene
neXtProtiNX_Q00610

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Coated pit, Cytoplasm, Cytoplasmic vesicle, Cytoskeleton, Membrane

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal dominant 56 (MRD56)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
See also OMIM:617854
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080721554 – 556Missing in MRD56; unknown pathological significance. 1 Publication3
Natural variantiVAR_080722890P → L in MRD56. 1 Publication1
Natural variantiVAR_0807231047L → P in MRD56; unknown pathological significance. 1 Publication1
Natural variantiVAR_0807241108W → R in MRD56; unknown pathological significance. 1 Publication1
Natural variantiVAR_0807251199 – 1675Missing in MRD56. 1 PublicationAdd BLAST477
Natural variantiVAR_0807261207Missing in MRD56; unknown pathological significance. 1 Publication1
Natural variantiVAR_0807271555 – 1675Missing in MRD56. 1 PublicationAdd BLAST121
Natural variantiVAR_0807281556 – 1675Missing in MRD56. 1 PublicationAdd BLAST120

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi65P → N: Disrupts spindle localization. 1 Publication1
Mutagenesisi67S → G: Disrupts spindle localization. 1 Publication1
Mutagenesisi87T → A: Disrupts spindle localization. 1 Publication1
Mutagenesisi89Q → A: Disrupts spindle localization. 1 Publication1
Mutagenesisi96K → E: Disrupts spindle localization. 1 Publication1
Mutagenesisi98K → E: Disrupts spindle localization. 1 Publication1
Mutagenesisi444R → E: Disrupts spindle localization; when associated with E-445, E-500 E-506 and E-507. 1 Publication1
Mutagenesisi445K → E: Disrupts spindle localization; when associated with E-444, E-500, E-506 and E-507. 1 Publication1
Mutagenesisi480 – 484LRANV → ERGQC: Disrupts spindle localization and interaction with TACC3. 1 Publication5
Mutagenesisi481R → E: Disrupts spindle localization; when associated with E-487, E-500, E-506 and E-507. 1 Publication1
Mutagenesisi487K → E: Disrupts spindle localization; when associated with E-481, E-500, E-506 and E-507. 1 Publication1
Mutagenesisi500K → E: Disrupts spindle localization; when associated with E-444, E-445, E-506 and E-507. 1 Publication1
Mutagenesisi500K → E: Disrupts spindle localization; when associated with E-481, E-487, E-506 and E-507. 1 Publication1
Mutagenesisi506K → E: Disrupts spindle localization; when associated with E-444, E-445, E-500 and E-507. 1 Publication1
Mutagenesisi506K → E: Disrupts spindle localization; when associated with E-481, E-487, E-500 and E-507. 1 Publication1
Mutagenesisi507K → E: Disrupts spindle localization; when associated with E-444, E-445, E-500 and E-506. 1 Publication1
Mutagenesisi507K → E: Disrupts spindle localization; when associated with E-481, E-487, E-500 and E-506. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi1213
MalaCardsiCLTC
MIMi617854 phenotype
OpenTargetsiENSG00000141367
Orphaneti178469 Autosomal dominant non-syndromic intellectual disability
178342 Inflammatory myofibroblastic tumor
319308 MiT family translocation renal cell carcinoma
442835 Undetermined early-onset epileptic encephalopathy
PharmGKBiPA26618

Chemistry databases

ChEMBLiCHEMBL3108634

Polymorphism and mutation databases

BioMutaiCLTC
DMDMi1705916

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources2 Publications
ChainiPRO_00002057782 – 1675Clathrin heavy chain 1Add BLAST1674

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1 Publication1
Modified residuei67PhosphoserineCombined sources1
Modified residuei105PhosphothreonineBy similarity1
Modified residuei184PhosphotyrosineBy similarity1
Modified residuei394PhosphothreonineCombined sources1
Modified residuei634PhosphotyrosineCombined sources1
Modified residuei737N6-succinyllysineBy similarity1
Modified residuei856N6-acetyllysineCombined sources1
Modified residuei899PhosphotyrosineBy similarity1
Modified residuei1167PhosphoserineBy similarity1
Modified residuei1206PhosphotyrosineBy similarity1
Modified residuei1229PhosphoserineCombined sources1
Modified residuei1441N6-acetyllysine; alternateCombined sources1
Modified residuei1441N6-succinyllysine; alternateBy similarity1
Modified residuei1477PhosphotyrosineCombined sources1
Modified residuei1487PhosphotyrosineBy similarity1
Modified residuei1494PhosphoserineCombined sources1
Modified residuei1501N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ00610
MaxQBiQ00610
PaxDbiQ00610
PeptideAtlasiQ00610
PRIDEiQ00610
ProteomicsDBi57862
57863 [Q00610-2]

PTM databases

iPTMnetiQ00610
PhosphoSitePlusiQ00610
SwissPalmiQ00610

Expressioni

Gene expression databases

BgeeiENSG00000141367 Expressed in 240 organ(s), highest expression level in dorsolateral prefrontal cortex
CleanExiHS_CLTC
ExpressionAtlasiQ00610 baseline and differential
GenevisibleiQ00610 HS

Organism-specific databases

HPAiCAB010389
CAB011571
CAB017155
HPA059143

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 Publications

Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi107623, 320 interactors
CORUMiQ00610
ELMiQ00610
IntActiQ00610, 200 interactors
MINTiQ00610
STRINGi9606.ENSP00000269122

Chemistry databases

BindingDBiQ00610

Structurei

Secondary structure

11675
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ00610
SMRiQ00610
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ00610

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati537 – 683CHCR 1PROSITE-ProRule annotation1 PublicationAdd BLAST147
Repeati686 – 828CHCR 2PROSITE-ProRule annotation1 PublicationAdd BLAST143
Repeati833 – 972CHCR 3PROSITE-ProRule annotation1 PublicationAdd BLAST140
Repeati979 – 1124CHCR 4PROSITE-ProRule annotation1 PublicationAdd BLAST146
Repeati1128 – 1269CHCR 5PROSITE-ProRule annotation1 PublicationAdd BLAST142
Repeati1274 – 1420CHCR 6PROSITE-ProRule annotation1 PublicationAdd BLAST147
Repeati1423 – 1566CHCR 7PROSITE-ProRule annotation1 PublicationAdd BLAST144

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni2 – 479Globular terminal domainAdd BLAST478
Regioni24 – 67WD40-like repeat 1Add BLAST44
Regioni68 – 107WD40-like repeat 2Add BLAST40
Regioni108 – 149WD40-like repeat 3Add BLAST42
Regioni150 – 195WD40-like repeat 4Add BLAST46
Regioni196 – 257WD40-like repeat 5Add BLAST62
Regioni258 – 301WD40-like repeat 6Add BLAST44
Regioni302 – 330WD40-like repeat 7Add BLAST29
Regioni449 – 465Binding site for the uncoating ATPase, involved in lattice disassemblySequence analysisAdd BLAST17
Regioni457 – 507Involved in spindle localization and interaction with TACC31 PublicationAdd BLAST51
Regioni480 – 523Flexible linkerAdd BLAST44
Regioni524 – 1675Heavy chain armAdd BLAST1152
Regioni524 – 634Distal segmentAdd BLAST111
Regioni639 – 1675Proximal segmentAdd BLAST1037
Regioni1213 – 1522Involved in binding clathrin light chainBy similarityAdd BLAST310
Regioni1550 – 1675TrimerizationBy similarityAdd BLAST126

Domaini

The N-terminal seven-bladed beta-propeller is formed by WD40-like repeats, and projects inward from the polyhedral outer clathrin coat. It constitutes a major protein-protein interaction node.

Sequence similaritiesi

Belongs to the clathrin heavy chain family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0985 Eukaryota
ENOG410XPH1 LUCA
GeneTreeiENSGT00400000022107
HOGENOMiHOG000188877
HOVERGENiHBG005344
InParanoidiQ00610
KOiK04646
PhylomeDBiQ00610
TreeFamiTF300059

Family and domain databases

Gene3Di1.25.40.10, 4 hits
2.130.10.110, 1 hit
InterProiView 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
PfamiView protein in Pfam
PF00637 Clathrin, 7 hits
PF09268 Clathrin-link, 1 hit
PF01394 Clathrin_propel, 5 hits
PIRSFiPIRSF002290 Clathrin_H_chain, 1 hit
SMARTiView protein in SMART
SM00299 CLH, 7 hits
SUPFAMiSSF48371 SSF48371, 6 hits
SSF50989 SSF50989, 1 hit
PROSITEiView protein in PROSITE
PS50236 CHCR, 7 hits

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q00610-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:1,675
Mass (Da):191,615
Last modified:January 23, 2007 - v5
Checksum:i6C4F2D54950079E2
GO
Isoform 2 (identifier: Q00610-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1636-1639: QPQL → NLSL
     1640-1675: Missing.

Note: No experimental confirmation available.
Show »
Length:1,639
Mass (Da):187,890
Checksum:i9CE5237A31C9B0C6
GO

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WVQ6A0A087WVQ6_HUMAN
Clathrin heavy chain
CLTC hCG_1818599
1,679Annotation score:
J3KS13J3KS13_HUMAN
Clathrin heavy chain 1
CLTC
612Annotation score:
K7EJJ5K7EJJ5_HUMAN
Clathrin heavy chain 1
CLTC
222Annotation score:
J3KSQ2J3KSQ2_HUMAN
Clathrin heavy chain 1
CLTC
122Annotation score:
J3QL20J3QL20_HUMAN
Clathrin heavy chain 1
CLTC
97Annotation score:
J3KRF5J3KRF5_HUMAN
Clathrin heavy chain 1
CLTC
131Annotation score:
J3KTN1J3KTN1_HUMAN
Clathrin heavy chain 1
CLTC
24Annotation score:

Sequence cautioni

The sequence BAA04801 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti560Q → R in CAA39363 (PubMed:1765375).Curated1
Sequence conflicti817G → V in CAA39363 (PubMed:1765375).Curated1
Sequence conflicti923R → H in CAE45761 (PubMed:17974005).Curated1
Sequence conflicti1563R → G in CAE45761 (PubMed:17974005).Curated1
Sequence conflicti1652Q → R in CAE45761 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080721554 – 556Missing in MRD56; unknown pathological significance. 1 Publication3
Natural variantiVAR_080722890P → L in MRD56. 1 Publication1
Natural variantiVAR_0807231047L → P in MRD56; unknown pathological significance. 1 Publication1
Natural variantiVAR_0807241108W → R in MRD56; unknown pathological significance. 1 Publication1
Natural variantiVAR_0807251199 – 1675Missing in MRD56. 1 PublicationAdd BLAST477
Natural variantiVAR_0807261207Missing in MRD56; unknown pathological significance. 1 Publication1
Natural variantiVAR_0807271555 – 1675Missing in MRD56. 1 PublicationAdd BLAST121
Natural variantiVAR_0807281556 – 1675Missing in MRD56. 1 PublicationAdd BLAST120

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0115701636 – 1639QPQL → NLSL in isoform 2. 1 Publication4
Alternative sequenceiVSP_0115711640 – 1675Missing in isoform 2. 1 PublicationAdd BLAST36

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
CCDSiCCDS32696.1 [Q00610-1]
PIRiA40573
RefSeqiNP_004850.1, NM_004859.3 [Q00610-1]
UniGeneiHs.491351

Genome annotation databases

EnsembliENST00000269122; ENSP00000269122; ENSG00000141367 [Q00610-1]
ENST00000393043; ENSP00000376763; ENSG00000141367 [Q00610-2]
GeneIDi1213
KEGGihsa:1213
UCSCiuc002ixp.4 human [Q00610-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar 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
CCDSiCCDS32696.1 [Q00610-1]
PIRiA40573
RefSeqiNP_004850.1, NM_004859.3 [Q00610-1]
UniGeneiHs.491351

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2XZGX-ray1.70A1-364[»]
4G55X-ray1.69A1-364[»]
ProteinModelPortaliQ00610
SMRiQ00610
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107623, 320 interactors
CORUMiQ00610
ELMiQ00610
IntActiQ00610, 200 interactors
MINTiQ00610
STRINGi9606.ENSP00000269122

Chemistry databases

BindingDBiQ00610
ChEMBLiCHEMBL3108634

Protein family/group databases

MoonDBiQ00610 Curated

PTM databases

iPTMnetiQ00610
PhosphoSitePlusiQ00610
SwissPalmiQ00610

Polymorphism and mutation databases

BioMutaiCLTC
DMDMi1705916

Proteomic databases

EPDiQ00610
MaxQBiQ00610
PaxDbiQ00610
PeptideAtlasiQ00610
PRIDEiQ00610
ProteomicsDBi57862
57863 [Q00610-2]

Protocols and materials databases

DNASUi1213
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000269122; ENSP00000269122; ENSG00000141367 [Q00610-1]
ENST00000393043; ENSP00000376763; ENSG00000141367 [Q00610-2]
GeneIDi1213
KEGGihsa:1213
UCSCiuc002ixp.4 human [Q00610-1]

Organism-specific databases

CTDi1213
DisGeNETi1213
EuPathDBiHostDB:ENSG00000141367.11
GeneCardsiCLTC
H-InvDBiHIX0039315
HGNCiHGNC:2092 CLTC
HPAiCAB010389
CAB011571
CAB017155
HPA059143
MalaCardsiCLTC
MIMi118955 gene
617854 phenotype
neXtProtiNX_Q00610
OpenTargetsiENSG00000141367
Orphaneti178469 Autosomal dominant non-syndromic intellectual disability
178342 Inflammatory myofibroblastic tumor
319308 MiT family translocation renal cell carcinoma
442835 Undetermined early-onset epileptic encephalopathy
PharmGKBiPA26618
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0985 Eukaryota
ENOG410XPH1 LUCA
GeneTreeiENSGT00400000022107
HOGENOMiHOG000188877
HOVERGENiHBG005344
InParanoidiQ00610
KOiK04646
PhylomeDBiQ00610
TreeFamiTF300059

Enzyme and pathway databases

ReactomeiR-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
R-HSA-3928665 EPH-ephrin mediated repulsion of cells
R-HSA-432720 Lysosome Vesicle Biogenesis
R-HSA-432722 Golgi Associated Vesicle Biogenesis
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
SignaLinkiQ00610
SIGNORiQ00610

Miscellaneous databases

ChiTaRSiCLTC human
EvolutionaryTraceiQ00610
GeneWikiiCLTC
GenomeRNAii1213
PROiPR:Q00610
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000141367 Expressed in 240 organ(s), highest expression level in dorsolateral prefrontal cortex
CleanExiHS_CLTC
ExpressionAtlasiQ00610 baseline and differential
GenevisibleiQ00610 HS

Family and domain databases

Gene3Di1.25.40.10, 4 hits
2.130.10.110, 1 hit
InterProiView 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
PfamiView protein in Pfam
PF00637 Clathrin, 7 hits
PF09268 Clathrin-link, 1 hit
PF01394 Clathrin_propel, 5 hits
PIRSFiPIRSF002290 Clathrin_H_chain, 1 hit
SMARTiView protein in SMART
SM00299 CLH, 7 hits
SUPFAMiSSF48371 SSF48371, 6 hits
SSF50989 SSF50989, 1 hit
PROSITEiView protein in PROSITE
PS50236 CHCR, 7 hits
ProtoNetiSearch...

Entry informationi

Entry nameiCLH1_HUMAN
AccessioniPrimary (citable) accession number: Q00610
Secondary accession number(s): D3DU00, Q6N0A0, Q86TF2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 1992
Last sequence update: January 23, 2007
Last modified: November 7, 2018
This is version 195 of the entry and version 5 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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