Reactome | CLTC(2-1634)insDGVSSVTQAGVQWRDLGSLQPSRARLPGHVAADHPPA-ALK(1058-1620) fusion [cytosol]

CLTC(2-1634)insDGVSSVTQAGVQWRDLGSLQPSRARLPGHVAADHPPA-ALK(1058-1620) fusion [cytosol]

Stable Identifier

R-HSA-9710852

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

fullName evidence="36 37"Clathrin heavy chain 1, CLH1_HUMAN

Locations in the PathwayBrowser

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Literature References

PubMed ID	Title	Journal	Year
12750159	ALK activation by the CLTC-ALK fusion is a recurrent event in large B-cell lymphoma De Paepe, P, Baens, M, van Krieken, H, Verhasselt, B, Stul, M, Simons, A, Poppe, B, Laureys, G, Brons, P, Vandenberghe, P, Speleman, F, Praet, M, De Wolf-Peeters, C, Marynen, P, Wlodarska, I	Blood	2003

External Reference Information

External Reference

UniProt:Q00610 CLTC

Gene Names

CLTC, CLH17, CLTCL2, KIAA0034

Chain

initiator methionine:1, chain:2-1675

Reference Genes

BioGPS Gene:1213 CLTC

COSMIC (genes):CLTC CLTC

CTD Gene:1213 CLTC

dbSNP Gene:1213 CLTC

ENSEMBL:ENSG00000141367 CLTC

HGNC:2092 CLTC

KEGG:hsa:1213 CLTC

Monarch:1213 CLTC

NCBI Gene:1213 CLTC

OMIM:118955 CLTC

UCSC:Q00610 CLTC

Reference Transcript

RefSeq:NM_004859.4 CLTC

Participates

as a candidate of

ALK fusion proteins [cytosol] (Homo sapiens)

as a component of

CLTC(2-1634)-ALK(1058-1620) fusion dimer [cytosol] (Homo sapiens)

Other forms of this molecule

CLTC [plasma membrane]

CLTC [lysosomal membrane]

CLTC [clathrin-coated endocytic vesicle membrane]

CLTC [endolysosome membrane]

CLTC [cytosol]

CLTC(2-1634)insV-ALK(1059-1620) fusion [cytosol]

CLTC(2-1634)insDGVSSVTQAGVQWRDLGSLQPSRARLPGHVAADHPPA-p-7Y-ALK(1058-1620) fusion [cytosol]

CLTC(2-1634)insV-p-7Y-ALK(1059-1620) fusion [cytosol]

CLTC [trans-Golgi network membrane]

Modified Residues

Name

Insertion of residues 1058 to 1620 at 1635 from UniProt:Q9UM73 ALK

Coordinate

1635

Name

Replacement of residues 1634 to 1634 by YDGVSSVTQAGVQWRDLGSLQPSRARLPGHVAADHPPA

Disease

Name	Identifier	Synonyms
diffuse large B-cell lymphoma	DOID:0050745

Cross References

RefSeq

NP_004850.1

ENSEMBL

ENST00000269122, ENST00000393043, ENSG00000141367, ENSP00000269122, ENSP00000376763, ENST00000700707, ENSP00000515147

OpenTargets

ENSG00000141367

Mondo

0018905

ZINC - Substances

CLH1_HUMAN

ZINC target

Q00610

PRO

Q00610

GlyGen

Q00610

PDB

6QNN, 6QNP, 9C0Y, 4G55, 2XZG, 7BN2, 7ZX4, 9C0Z, 6E4L, 7BN1

COSMIC

COSF434

HPA

ENSG00000141367-CLTC

GeneCards

CLTC

Pharos - Targets

Q00610

Orphanet

CLTC

ZINC - Predictions - Purchasable

CLH1_HUMAN

HMDB Protein

HMDBP07612

Interactors (12)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P32121 ARRB2	3	ARRB2 [cytosol] (R-HSA-416464) PolyUb-ARRB2 [cytosol] (R-HSA-6783000) ARRB2 [endocytic vesicle membrane] (R-HSA-9910881)	0.676	6
UniProt:Q15398 DLGAP5	1	DLGAP5 [cytosol] (R-HSA-264452)	0.645	4
UniProt:P13569 CFTR	17	misfolded CFTR [endoplasmic reticulum membrane] (R-HSA-8868730) CFTR [endoplasmic reticulum membrane] (R-HSA-8866837) CFTR [plasma membrane] (R-HSA-383188) PolyUb-CFTR [plasma membrane] (R-HSA-8867595) PolyUb-CFTR [clathrin-coated endocytic vesicle membrane] (R-HSA-8869104) CFTR N1303K [plasma membrane] (R-HSA-5678983) CFTR F508del [plasma membrane] (R-HSA-5678978) CFTR W1282* [plasma membrane] (R-HSA-5678976) CFTR G551D [plasma membrane] (R-HSA-5678977) CFTR G542* [plasma membrane] (R-HSA-5678986) ub-CFTR F508del [endoplasmic reticulum membrane] (R-HSA-8866842) ub-CFTR F508del [cytosol] (R-HSA-8866838) CFTR F508del [endoplasmic reticulum membrane] (R-HSA-8866834) PolyUb-CFTR [endosome membrane] (R-HSA-6782976) CFTR [endosome membrane] (R-HSA-6782965) CFTR [Golgi-associated vesicle membrane] (R-HSA-5627079) CFTR [lysosomal membrane] (R-HSA-5627279)	0.615	21
UniProt:P03372 ESR1	10	ESR1 [cytosol] (R-HSA-9020968) ESR1 [nucleoplasm] (R-HSA-446168) PalmS-ESR1 [cytosol] (R-HSA-9020974) PalmS-ESR1 [plasma membrane] (R-HSA-9021057) Me260-PalmS-ESR1 [plasma membrane] (R-HSA-9637788) Me260-ESR1 [cytosol] (R-HSA-9632177) p-S167-ESR1 [cytosol] (R-HSA-9841254) p-S167-ESR1 [nucleoplasm] (R-HSA-9841867) monoSUMO1-5K-ESR1 [nucleoplasm] (R-HSA-4090302) p-S118-ESR1 [nucleoplasm] (R-HSA-9024210)	0.597	3
UniProt:Q14164 IKBKE	5	IKBKE [cytosol] (R-HSA-450225) p-S172-IKBKE [cytosol] (R-HSA-450278) K63polyUb-K30,K401-IKBKE [cytosol] (R-HSA-9730436) p-S172-IKBKE [nucleoplasm] (R-HSA-4755521) monoSUMO1-K231-p-S172-IKBKE [nucleoplasm] (R-HSA-4755535)	0.589	2
UniProt:P10636-8 MAPT	3	MAPT-8 [cytosol] (R-HSA-9619519) p-S199,S202,S262,S396,S404,S409,T181,T231-MAPT-8 [cytosol] (R-HSA-9836400) p-S262,S356,S396-MAPT-8 [cytosol] (R-HSA-9619521)	0.569	11
UniProt:Q9NYZ3 GTSE1	4	GTSE1 [cytosol] (R-HSA-8852264) p-S435-GTSE1 [cytosol] (R-HSA-8852316) p-S435-GTSE1 [nucleoplasm] (R-HSA-8852332) p-T513,T526-GTSE1 [cytosol] (R-HSA-8852308)	0.564	3
UniProt:Q13627 DYRK1A	1	DYRK1A [nucleoplasm] (R-HSA-1362267)	0.547	2
UniProt:O14920 IKBKB	3	IKBKB [cytosol] (R-HSA-168114) p-S177,S181-IKBKB [cytosol] (R-HSA-202506) IKBKB Q432Pfs*62 [cytosol] (R-HSA-9628518)	0.536	2
UniProt:Q96FJ0 STAMBPL1	1	STAMBPL1 [cytosol] (R-HSA-6783264)	0.527	2
UniProt:P10242 MYB	1	MYB [nucleoplasm] (R-HSA-992697)	0.499	4
UniProt:P49407 ARRB1	6	ARRB1 [cytosol] (R-HSA-264470) PolyUb-ARRB1 [cytosol] (R-HSA-6783186) ARRB1 [endocytic vesicle membrane] (R-HSA-9910882) ARRB1 [lysosomal membrane] (R-HSA-432701) ARRB1 [Golgi membrane] (R-HSA-350831) ARRB1 [cytoplasmic vesicle membrane] (R-HSA-351187)	0.491	3

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