Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	64780
Gene name	Microtubule associated monooxygenase, calponin and LIM domain containing 1
Gene symbol	MICAL1
Synonyms (NCBI Gene)	MICALMICAL-1NICAL
Chromosome	6
Chromosome location	6q21
Summary	This gene encodes an enzyme that oxidizes methionine residues on actin, thereby promoting depolymerization of actin filaments. This protein interacts with and regulates signalling by NEDD9/CAS-L (neural precursor cell expressed, developmentally down-regul

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1447618526	CAGGGCCTCT>-	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (15)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023104	hsa-miR-124-3p	Microarray	18668037
MIRT045642	hsa-miR-149-5p	CLASH	23622248
MIRT2042141	hsa-miR-4708-3p	CLIP-seq
MIRT2042142	hsa-miR-4727-5p	CLIP-seq
MIRT2042143	hsa-miR-4755-3p	CLIP-seq
MIRT2042144	hsa-miR-4769-3p	CLIP-seq
MIRT2271871	hsa-miR-1245b-3p	CLIP-seq
MIRT2271872	hsa-miR-4514	CLIP-seq
MIRT2271873	hsa-miR-4645-5p	CLIP-seq
MIRT2271874	hsa-miR-4673	CLIP-seq
MIRT2271875	hsa-miR-4690-3p	CLIP-seq
MIRT2271876	hsa-miR-4692	CLIP-seq
MIRT2042142	hsa-miR-4727-5p	CLIP-seq
MIRT2042143	hsa-miR-4755-3p	CLIP-seq
MIRT2042144	hsa-miR-4769-3p	CLIP-seq

Show/Hide all (48)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IDA	21864500
GO:0003779	Function	Actin binding	IEA
GO:0004497	Function	Monooxygenase activity	IDA	33393173
GO:0004497	Function	Monooxygenase activity	IEA
GO:0005515	Function	Protein binding	IPI	11827972, 28230050, 28514442, 30905672, 31413325, 32344433
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	11827972, 24440334
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005829	Component	Cytosol	IDA	32344433
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005882	Component	Intermediate filament	NAS	11827972
GO:0005884	Component	Actin filament	IDA	33393173
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005929	Component	Cilium	IDA
GO:0007010	Process	Cytoskeleton organization	NAS	11827972
GO:0007165	Process	Signal transduction	NAS	11827972
GO:0010008	Component	Endosome membrane	IDA	32344433
GO:0010008	Component	Endosome membrane	IEA
GO:0015629	Component	Actin cytoskeleton	IBA
GO:0016020	Component	Membrane	IEA
GO:0016174	Function	NAD(P)H oxidase H2O2-forming activity	IDA	21864500, 26845023
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016709	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen	IDA	21864500, 26845023
GO:0016709	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen	IEA
GO:0017124	Function	SH3 domain binding	IPI	11827972
GO:0019417	Process	Sulfur oxidation	IEA
GO:0019417	Process	Sulfur oxidation	ISS
GO:0019901	Function	Protein kinase binding	IEA
GO:0030042	Process	Actin filament depolymerization	IDA	21864500, 28230050, 33393173
GO:0030042	Process	Actin filament depolymerization	IEA
GO:0030496	Component	Midbody	IDA	28230050
GO:0030496	Component	Midbody	IEA
GO:0031267	Function	Small GTPase binding	IEA
GO:0036064	Component	Ciliary basal body	IDA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0045171	Component	Intercellular bridge	IDA	28230050
GO:0046872	Function	Metal ion binding	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0051017	Process	Actin filament bundle assembly	IBA
GO:0071949	Function	FAD binding	IDA	21864500
GO:0071949	Function	FAD binding	IEA
GO:0120025	Component	Plasma membrane bounded cell projection	IEA
GO:0120501	Function	F-actin monooxygenase activity	IEA
GO:1903305	Process	Regulation of regulated secretory pathway	IEA
GO:1990026	Component	Hippocampal mossy fiber expansion	IEA

MIM	HGNC	e!Ensembl
607129	20619	ENSG00000135596

Q8TDZ2

Protein name

[F-actin]-monooxygenase MICAL1 (EC 1.14.13.225) (EC 1.6.3.1) (Molecule interacting with CasL protein 1) (MICAL-1) (NEDD9-interacting protein with calponin homology and LIM domains)

Protein function

Monooxygenase that promotes depolymerization of F-actin by mediating oxidation of specific methionine residues on actin to form methionine-sulfoxide, resulting in actin filament disassembly and preventing repolymerization (PubMed:29343822). In t

PDB

1WYL , 2CO8 , 2DK9 , 5LE0 , 5LPN , 6KU0 , 8HLO , 8Y6K , 9EWY

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01494	FAD_binding_3	84 → 139	FAD binding domain	Family
PF00307	CH	508 → 613	Calponin homology (CH) domain	Domain
PF00412	LIM	697 → 754	LIM domain	Domain
PF12130	DUF3585	931 → 1061	Bivalent Mical/EHBP Rab binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in the thymus, lung, spleen, kidney, testis and hematopoietic cells. {ECO:0000269|PubMed:11827972}.

Sequence

MASPTSTNPAHAHFESFLQAQLCQDVLSSFQELCGALGLEPGGGLPQYHKIKDQLNYWSA
KSLWTKLDKRAGQPVYQQGRACTSTKCLVVGAGPCGLRVAVELALLGARVVLVEKRTKFS
RHNVLHLWPFTIHDLRALGAKKFYGRFCTGTLDHISIRQLQLLLLKVALLLGVEIHWGVT
FTGLQPPPRKGSGWRAQLQPNPPAQLANYEFDVLISAAGGKFVPEGFKVREMRGKLAIGI
TANFVNGRTVEETQVPEISGVARIYNQSFFQSLLKATGIDLENIVYYKDDTHYFVMTAKK
QCLLRLGVLRQDWPDTNRLLGSANVVPEALQRFTRAAADFATHGKLGKLEFAQDAHGQPD
VSAFDFTSMMRAESSARVQEKHGARLLLGLVGDCLVEPFWPLGTGVARGFLAAFDAAWMV
KRWAEGAESLEVLAERESLYQLLSQTSPENMHRNVAQYGLDPATRYPNLNLRAVTPNQVR
DLYDVLAKEPVQRNNDKTDTGMPATGSAGTQEELLRWCQEQTAGYPGVHVSDLSSSWADG
LALCALVYRLQPGLLEPSELQGLGALEATAWALKVAENELGITPVVSAQAVVAGSDPLGL
IAYLSHFHSAFKSMAHSPGPVSQASPGTSSAVLFLSKLQRTLQRSRAKENAEDAGGKKLR
LEMEAETPSTEVPPDPEPGVPLTPPSQHQEAGAGDLCALCGEHLYVLERLCVNGHFFHRS
CFRCHTCEATLWPGGYEQHPGDGHFYCLQHLPQTDHKAEGSDRGPESPELPTPSENSMPP
GLSTPTASQEGAGPVPDPSQPTRRQIRLSSPERQRLSSLNLTPDPEMEPPPKPPRSCSAL
ARHALESSFVGWGLPVQSPQALVAMEKEEKESPFSSEEEEEDVPLDSDVEQALQTFAKTS
GTMNNYPTWRRTLLRRAKEEEMKRFCKAQTIQRRLNEIEAALRELEAEGVKLELALRRQS
SSPEQQKKLWVGQLLQLVDKKNSLVAEEAELMITVQELNLEEKQWQLDQELRGYMNREEN
LKTAADRQAEDQVLRKLVDLVNQRDALIRFQEERRLSELALGTGAQG

Sequence length

1067

Interactions

View interactions

	Reactome
			Factors involved in megakaryocyte development and platelet production

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Epilepsy, familial temporal lobe, 1	Pathogenic; Likely pathogenic	rs2115340270, rs775269055	RCV002051606 RCV003226541

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Uncertain significance	rs1446507824	RCV005932044
Cervical cancer	Likely benign; Benign	rs138930729, rs116818040	RCV005926202 RCV005907740
Cholangiocarcinoma	Benign	rs116647620	RCV005911729
Colon adenocarcinoma	Uncertain significance	rs144451221, rs774016878	RCV005926690 RCV005935011
Colorectal cancer	Benign	rs6149743	RCV005868647
Familial cancer of breast	Likely benign; Uncertain significance	rs138930729, rs201052865	RCV005926200 RCV005932047
Gastric cancer	Benign	rs34681234	RCV005906518
Germ cell tumor of testis	Benign	rs752262	RCV005920965
Hepatocellular carcinoma	Benign	rs6149743, rs752262, rs34681234	RCV005868645 RCV005920963 RCV005906517
Lung cancer	Likely benign	rs138930729	RCV005926204
Lymphoma	Benign	rs6149743	RCV005868648
Malignant lymphoma, large B-cell, diffuse	Benign	rs6149743, rs752262	RCV005868646 RCV005920964
Malignant tumor of urinary bladder	Likely benign; Uncertain significance	rs138930729, rs772793278, rs1582640425	RCV005926201 RCV005927018 RCV005931526
Melanoma	Benign	rs34681234	RCV005906519
MICAL1-related Lateral temporal epilepsy	Uncertain significance	rs770768657, rs373511531, rs560383669	RCV002227611 RCV002227614 RCV003228618
Ovarian serous cystadenocarcinoma	Likely benign; Uncertain significance; Benign	rs138930729, rs1219592650, rs116818040	RCV005926203 RCV005926992 RCV005907741
Uterine corpus endometrial carcinoma	Benign	rs116647620	RCV005911730

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Bipolar Disorder	Associate	21769101
Breast Neoplasms	Associate	27430308, 29524295, 34314753
Carcinoma Hepatocellular	Associate	37248888
Carcinoma Renal Cell	Associate	36575439
Kidney Neoplasms	Associate	31449970
Neoplasm Metastasis	Associate	36575439
Neoplasms	Associate	27430308, 31449970, 34314753, 36575439
Stomach Neoplasms	Associate	38508474

MICAL1 (microtubule associated monooxygenase, calponin and LIM domain containing 1)