CLTC
entrez
1213
canonical
uniprot
Q00610
canonical
ensembl
ENSG00000141367
resolver
ensp
ENSP00000269122
resolver
ensp
ENSP00000462592
resolver
enst
ENST00000580081
resolver
genesymbol
CLTC
resolver
genesymbol_syn
CLH17
resolver
genesymbol_syn
CLTCL2
resolver
genesymbol_syn
KIAA0034
resolver
hgnc
HGNC:2092
resolver
uniprot
A0A087WVQ6
resolver
uniprot
D3DU00
resolver
uniprot
J3KSQ2
resolver
uniprot
Q6N0A0
resolver
uniprot
Q86TF2
resolver
uniprot_entry
A0A087WVQ6_HUMAN
resolver
uniprot_entry
CLH1_HUMAN
resolver
uniprot_sec
D3DU00
resolver
uniprot_sec
J3KSQ2
resolver
uniprot_sec
Q6N0A0
resolver
uniprot_sec
Q86TF2
resolver
amino_acid_sequence
MAQILPIRFQEHLQLQNLGINPANIGFSTLTMESDKFICIREKVGEQAQVVIIDMNDPSNPIRRPISADSAIMNPASKVIALKAGKTLQIFNIEMKSKMKAHTMTDDVTFWKWISLNTVALVTDNAVYHWSMEGESQPVKMFDRHSSLAGCQIINYRTDAKQKWLLLTGISAQQNRVVGAMQLYSVDRKVSQPIEGHAASFAQFKMEGNAEESTLFCFAVRGQAGGKLHIIEVGTPPTGNQPFPKKAVDVFFPPEAQNDFPVAMQISEKHDVVFLITKYGYIHLYDLETGTCIYMNRISGETIFVTAPHEATAGIIGVNRKGQVLSVCVEEENIIPYITNVLQNPDLALRMAVRNNLAGAEELFARKFNALFAQGNYSEAAKVAANAPKGILRTPDTIRRFQSVPAQPGQTSPLLQYFGILLDQGQLNKYESLELCRPVLQQGRKQLLEKWLKEDKLECSEELGDLVKSVDPTLALSVYLRANVPNKVIQCFAETGQVQKIVLYAKKVGYTPDWIFLLRNVMRISPDQGQQFAQMLVQDEEPLADITQIVDVFMEYNLIQQCTAFLLDALKNNRPSEGPLQTRLLEMNLMHAPQVADAILGNQMFTHYDRAHIAQLCEKAGLLQRALEHFTDLYDIKRAVVHTHLLNPEWLVNYFGSLSVEDSLECLRAMLSANIRQNLQICVQVASKYHEQLSTQSLIELFESFKSFEGLFYFLGSIVNFSQDPDVHFKYIQAACKTGQIKEVERICRESNCYDPERVKNFLKEAKLTDQLPLIIVCDRFDFVHDLVLYLYRNNLQKYIEIYVQKVNPSRLPVVIGGLLDVDCSEDVIKNLILVVRGQFSTDELVAEVEKRNRLKLLLPWLEARIHEGCEEPATHNALAKIYIDSNNNPERFLRENPYYDSRVVGKYCEKRDPHLACVAYERGQCDLELINVCNENSLFKSLSRYLVRRKDPELWGSVLLESNPYRRPLIDQVVQTALSETQDPEEVSVTVKAFMTADLPNELIELLEKIVLDNSVFSEHRNLQNLLILTAIKADRTRVMEYINRLDNYDAPDIANIAISNELFEEAFAIFRKFDVNTSAVQVLIEHIGNLDRAYEFAERCNEPAVWSQLAKAQLQKGMVKEAIDSYIKADDPSSYMEVVQAANTSGNWEELVKYLQMARKKARESYVETELIFALAKTNRLAELEEFINGPNNAHIQQVGDRCYDEKMYDAAKLLYNNVSNFGRLASTLVHLGEYQAAVDGARKANSTRTWKEVCFACVDGKEFRLAQMCGLHIVVHADELEELINYYQDRGYFEELITMLEAALGLERAHMGMFTELAILYSKFKPQKMREHLELFWSRVNIPKVLRAAEQAHLWAELVFLYDKYEEYDNAIITMMNHPTDAWKEGQFKDIITKVANVELYYRAIQFYLEFKPLLLNDLLMVLSPRLDHTRAVNYFSKVKQLPLVKPYLRSVQNHNNKSVNESLNNLFITEEDYQALRTSIDAYDNFDNISLAQRLEKHELIEFRRIAAYLFKGNNRWKQSVELCKKDSLYKDAMQYASESKDTELAEELLQWFLQEEKRECFGACLFTCYDLLRPDVVLETAWRHNIMDFAMPYFIQVMKEYLTKVDKLDASESLRKEEEQATETQPIVYGQPQLMLTAGPSVAVPPQAPFGYGYTAPPYGQPQPGFGYSM
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal dominant 56 (MRD56) [MIM:617854]: A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:26822784, ECO:0000269|PubMed:29100083}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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 a 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). Interaction with DNAJC6 mediates the recruitment of HSPA8 to the clathrin lattice and creates local destabilization of the lattice promoting uncoating (By similarity). {ECO:0000250|UniProtKB:P49951, ECO:0000269|PubMed:15858577, ECO:0000269|PubMed:16968737, ECO:0000269|PubMed:20639872, ECO:0000269|PubMed:21297582, ECO:0000269|PubMed:23532825}.
uniprot
proteins
mass_dalton
191615
uniprot
proteins
mutagenesis
MUTAGEN 65; /note="P->N: Disrupts spindle localization."; /evidence="ECO:0000269|PubMed:23918938"; MUTAGEN 67; /note="S->G: Disrupts spindle localization."; /evidence="ECO:0000269|PubMed:23918938"; MUTAGEN 87; /note="T->A: Disrupts spindle localization."; /evidence="ECO:0000269|PubMed:23918938"; MUTAGEN 89; /note="Q->A: Disrupts spindle localization."; /evidence="ECO:0000269|PubMed:23918938"; MUTAGEN 96; /note="K->E: Disrupts spindle localization."; /evidence="ECO:0000269|PubMed:23918938"; MUTAGEN 98; /note="K->E: Disrupts spindle localization."; /evidence="ECO:0000269|PubMed:23918938"; MUTAGEN 444; /note="R->E: Disrupts spindle localization; when associated with E-445, E-500 E-506 and E-507."; /evidence="ECO:0000269|PubMed:23918938"; MUTAGEN 445; /note="K->E: Disrupts spindle localization; when associated with E-444, E-500, E-506 and E-507."; /evidence="ECO:0000269|PubMed:23918938"; MUTAGEN 480..484; /note="LRANV->ERGQC: Disrupts spindle localization and interaction with TACC3."; /evidence="ECO:0000269|PubMed:23918938"; MUTAGEN 481; /note="R->E: Disrupts spindle localization; when associated with E-487, E-500, E-506 and E-507."; /evidence="ECO:0000269|PubMed:23918938"; MUTAGEN 487; /note="K->E: Disrupts spindle localization; when associated with E-481, E-500, E-506 and E-507."; /evidence="ECO:0000269|PubMed:23918938"; MUTAGEN 500; /note="K->E: Disrupts spindle localization; when associated with E-444, E-445, E-506 and E-507."; /evidence="ECO:0000269|PubMed:23918938"; MUTAGEN 500; /note="K->E: Disrupts spindle localization; when associated with E-481, E-487, E-506 and E-507."; /evidence="ECO:0000269|PubMed:23918938"; MUTAGEN 506; /note="K->E: Disrupts spindle localization; when associated with E-444, E-445, E-500 and E-507."; /evidence="ECO:0000269|PubMed:23918938"; MUTAGEN 506; /note="K->E: Disrupts spindle localization; when associated with E-481, E-487, E-500 and E-507."; /evidence="ECO:0000269|PubMed:23918938"; MUTAGEN 507; /note="K->E: Disrupts spindle localization; when associated with E-444, E-445, E-500 and E-506."; /evidence="ECO:0000269|PubMed:23918938"; MUTAGEN 507; /note="K->E: Disrupts spindle localization; when associated with E-481, E-487, E-500 and E-506."; /evidence="ECO:0000269|PubMed:23918938
uniprot
proteins
protein_family
Clathrin heavy chain family
uniprot
proteins
pubmed
11532990
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15858577
uniprot
proteins
pubmed
16314522
uniprot
proteins
pubmed
16968737
uniprot
proteins
pubmed
17081065
uniprot
proteins
pubmed
1765375
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18529014
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20639872
uniprot
proteins
pubmed
21266579
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21297582
uniprot
proteins
pubmed
21816279
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23532825
uniprot
proteins
pubmed
23918938
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25066864
uniprot
proteins
pubmed
25596274
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26756164
uniprot
proteins
pubmed
26822784
uniprot
proteins
pubmed
27022195
uniprot
proteins
pubmed
29100083
uniprot
proteins
pubmed
29735704
uniprot
proteins
pubmed
7584026
uniprot
proteins
sequence_length
1675
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane {ECO:0000269|PubMed:17081065}; Peripheral membrane protein {ECO:0000269|PubMed:17081065}; Cytoplasmic side {ECO:0000269|PubMed:17081065}. Membrane, coated pit {ECO:0000269|PubMed:17081065}; Peripheral membrane protein {ECO:0000269|PubMed:17081065}; Cytoplasmic side {ECO:0000269|PubMed:17081065}. Melanosome {ECO:0000269|PubMed:17081065}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:15858577, ECO:0000269|PubMed:16968737, ECO:0000269|PubMed:23918938}. 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. {ECO:0000269|PubMed:25596274}.
uniprot
proteins