Reactome | UniProt:Q9HC35 EML4

chain	chain:1-981
checksum	7E8F2585747736B9
comment	FUNCTION Essential for the formation and stability of microtubules (MTs) (PubMed:16890222, PubMed:31409757). Required for the organization of the mitotic spindle and for the proper attachment of kinetochores to MTs (PubMed:25789526). Promotes the recruitment of NUDC to the mitotic spindle for mitotic progression (PubMed:25789526).SUBUNIT Homotrimer; self-association is mediated by the N-terminal coiled coil (PubMed:25740311). Interacts (via WD repeats) with NUDC (PubMed:25789526). Interacts with alpha- and beta-tubulin during mitosis (PubMed:31409757).SUBCELLULAR LOCATION Localizes to microtubules (MTs) during interphase with a significantly reduced affinity for MTs during mitosis.ALTERNATIVE PRODUCTS Phosphorylated during mitosis (PubMed:16890222). Phosphorylation at Ser-144 and Ser-146 promotes its dissociation from microtubules during mitosis which is required for efficient chromosome congression (PubMed:31409757).DISEASE A chromosomal aberration involving EML4 has been identified in a subset of patients with non-small-cell lung carcinoma. This aberration leads to the production of a fusion protein between the N-terminus of EML4 and the C-terminus of ALK. It is unclear whether the fusion protein is caused by a simple inversion within 2p (inv(2)(p21p23)) or whether the chromosome translocation involving 2p is more complex. When tested in a heterologous system, the fusion protein EML4-ALK possesses transforming activity that is dependent on ALK catalytic activity, possibly due to spontaneous dimerization mediated by the EML4 moiety, leading to ALK kinase activation.SIMILARITY Belongs to the WD repeat EMAP family.SEQUENCE CAUTION Contaminating sequence. Potential poly-A sequence.SEQUENCE CAUTION Truncated N-terminus.
crossReference	[DatabaseIdentifier:11487395] ENSEMBL:ENSG00000143924 [DatabaseIdentifier:11592185] ENSEMBL:ENSP00000385059 [DatabaseIdentifier:11592186] ENSEMBL:ENSP00000320663 [DatabaseIdentifier:11714884] ENSEMBL:ENST00000402711 [DatabaseIdentifier:11714885] ENSEMBL:ENST00000318522 [DatabaseIdentifier:11784319] GeneCards:EML4 [DatabaseIdentifier:11799799] GlyGen:Q9HC35 [DatabaseIdentifier:11837417] HPA:ENSG00000143924-EML4 [DatabaseIdentifier:12121911] OpenTargets:ENSG00000143924 [DatabaseIdentifier:12156412] PDB:4CGC [DatabaseIdentifier:12239899] PRO:Q9HC35 [DatabaseIdentifier:12282235] Pharos - Targets:Q9HC35 [DatabaseIdentifier:12402478] RefSeq:NP_001138548.2
databaseName	UniProt
dbId	69902
description	recommendedName: Echinoderm microtubule-associated protein-like 4 shortName: EMAP-4 alternativeName: Restrictedly overexpressed proliferation-associated protein alternativeName: Ropp 120
displayName	UniProt:Q9HC35 EML4
geneName	EML4 C2orf2 EMAPL4
identifier	Q9HC35
isSequenceChanged	false
keyword	3D-structure Acetylation Alternative splicing Cell cycle Cell division Chromosomal rearrangement Coiled coil Cytoplasm Cytoskeleton Direct protein sequencing Microtubule Mitosis Phosphoprotein Proteomics identification Reference proteome Repeat WD repeat
modified	[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
moleculeType	Protein
name	EML4
otherIdentifier	11716652_a_at 11716653_x_at 11716654_a_at 11747005_a_at 16879408 220386_PM_s_at 220386_s_at 223068_PM_at 223068_at 223069_PM_s_at 223069_s_at 228674_PM_s_at 228674_s_at 232587_PM_at 232587_at 2478749 2478750 2478751 2478763 2478771 2478772 2478776 2478777 2478778 2478780 2478781 2478787 2478789 2478791 2478792 2478793 2478794 2478797 2478798 2478799 2478801 2478802 2478805 2478806 2478807 2478808 2478810 2478816 2478818 2478820 2478821 2478826 2478829 2478830 2478833 2478834 2478835 2478836 2478837 2478838 2478839 2478840 2478841 2478842 2478843 2478844 2478862 27436 56562_at 62036_at 65041_at 66955_at 8041592 88181_at A_14_P131775 A_23_P143127 A_24_P273413 GE55919 GE601267 GO:0000226 GO:0000278 GO:0005515 GO:0005737 GO:0005815 GO:0005819 GO:0005829 GO:0005856 GO:0005874 GO:0005929 GO:0007010 GO:0007017 GO:0007080 GO:0008017 GO:0008092 GO:0008608 GO:0015630 GO:0016020 GO:0030496 GO:0043014 GO:0043226 GO:0045171 GO:0048487 GO:0051301 GO:0072686 HMNXSV003035398 HMNXSV003044133 Hs.12066.0.S1_3p_at Hs.13472.1.A2_3p_at Hs2.147135.1.S1_3p_s_at ILMN_1718297 PH_hs_0024383 TC02000260.hg g9506630_3p_a_at g9957235_3p_a_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-9647741] EML4 [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9648096] p-S,T-EML4 [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9699812] EML4(1-496)-ALK(1058-1620) fusion [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9699862] EML4(1-223)-ALK(1059-1620) fusion [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9699813] EML4(1-223)insKMSTREKNSQV-ALK(1059-1620) fusion [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9716113] EML4(1-780)-p-7Y-ALK(1058-1620) fusion [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9716116] EML4(1-569)-p-7Y-ALK(1078-1620) fusion [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9699903] EML4(1-223)-p-7Y-ALK(1059-1620) fusion [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9699885] EML4(1-223)insKMSTREKNSQV-p-7Y-ALK(1059-1620) fusion [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9699918] EML4(1-486)-p-7Y-ALK(1058-1620) fusion [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9716112] EML4(1-569)-ALK(1078-1620) fusion [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9716119] EML4(1-780)-ALK(1058-1620) fusion [cytosol] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:12696855] UCSC:Q9HC35 EML4 [ReferenceDNASequence:ensembl:ENSG00000143924] ENSEMBL:ENSG00000143924 EML4 [ReferenceDNASequence:11352664] BioGPS Gene:27436 EML4 [ReferenceDNASequence:11393918] COSMIC - genes:EML4 EML4 [ReferenceDNASequence:11408212] CTD Gene:27436 EML4 [ReferenceDNASequence:11429941] dbSNP Gene:27436 EML4 [ReferenceDNASequence:11815944] HGNC:1316 EML4 [ReferenceDNASequence:11892348] KEGG:hsa:27436 EML4 [ReferenceDNASequence:11982453] Monarch:27436 EML4 [ReferenceDNASequence:12066546] NCBI Gene:27436 EML4 [ReferenceDNASequence:12107566] OMIM:607442 EML4
referenceTranscript	[ReferenceRNASequence:12584201] RefSeq:NM_001145076.3 EML4
schemaClass	ReferenceGeneProduct
secondaryIdentifier	EMAL4_HUMAN A6H8Y6 A6P4T4 A6P4V4 B2RBK3 B2RTW7 B5MCW9 Q3SWW0 Q53R29 Q53TW8 Q6PJ45 Q9NV40
sequenceLength	981
species	[Species:48887] Homo sapiens
stId	uniprot:Q9HC35
url	http://purl.uniprot.org/uniprot/Q9HC35

(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-9647741] EML4 [cytosol] [EntityWithAccessionedSequence:R-HSA-9648096] p-S,T-EML4 [cytosol] [EntityWithAccessionedSequence:R-HSA-9699812] EML4(1-496)-ALK(1058-1620) fusion [cytosol] [EntityWithAccessionedSequence:R-HSA-9699862] EML4(1-223)-ALK(1059-1620) fusion [cytosol] [EntityWithAccessionedSequence:R-HSA-9699813] EML4(1-223)insKMSTREKNSQV-ALK(1059-1620) fusion [cytosol] [EntityWithAccessionedSequence:R-HSA-9716113] EML4(1-780)-p-7Y-ALK(1058-1620) fusion [cytosol] [EntityWithAccessionedSequence:R-HSA-9716116] EML4(1-569)-p-7Y-ALK(1078-1620) fusion [cytosol] [EntityWithAccessionedSequence:R-HSA-9699903] EML4(1-223)-p-7Y-ALK(1059-1620) fusion [cytosol] [EntityWithAccessionedSequence:R-HSA-9699885] EML4(1-223)insKMSTREKNSQV-p-7Y-ALK(1059-1620) fusion [cytosol] [EntityWithAccessionedSequence:R-HSA-9699918] EML4(1-486)-p-7Y-ALK(1058-1620) fusion [cytosol] [EntityWithAccessionedSequence:R-HSA-9716112] EML4(1-569)-ALK(1078-1620) fusion [cytosol] [EntityWithAccessionedSequence:R-HSA-9716119] EML4(1-780)-ALK(1058-1620) fusion [cytosol]
(referenceSequence)	[ModifiedResidue:9648093] O-phospho-L-threonine at unknown position [ModifiedResidue:9648092] O-phospho-L-serine at unknown position [FragmentReplacedModification:9699846] Replacement of residues 223 to 223 by EKMSTREKNSQV
(interactor)	[UndirectedInteraction:11202087] UniProt:Q96PC5 <-> UniProt:Q9HC35 (IntAct) [UndirectedInteraction:11218721] UniProt:P10636-8 <-> UniProt:Q9HC35 (IntAct) [UndirectedInteraction:11266853] UniProt:P63208 <-> UniProt:Q9HC35 (IntAct) [UndirectedInteraction:11283383] UniProt:Q9HC35 <-> UniProt:Q9NVF7 (IntAct) [UndirectedInteraction:11283385] UniProt:Q9HC35 <-> UniProt:Q13885 (IntAct) [UndirectedInteraction:11283387] UniProt:Q9HC35 <-> UniProt:Q9BVA1 (IntAct) [UndirectedInteraction:11283389] UniProt:Q9HC35 <-> UniProt:Q13509 (IntAct) [UndirectedInteraction:11283391] UniProt:Q9HC35 <-> UniProt:Q8TDX7 (IntAct)

UniProt:Q9HC35 EML4 Show undefined attributes

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