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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	23499
Gene name	Microtubule actin crosslinking factor 1
Gene symbol	MACF1
Synonyms (NCBI Gene)	ABP620ACF7KIAA0754LIS9Lnc-PMIFMACFOFC4
Chromosome	1
Chromosome location	1p34.3
Summary	This gene encodes a large protein containing numerous spectrin and leucine-rich repeat (LRR) domains. The encoded protein is a member of a family of proteins that form bridges between different cytoskeletal elements. This protein facilitates actin-microtu

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SNP ID	Visualize variation	Clinical significance	Consequence
rs559634261	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs755081350	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1488808726	G>C	Pathogenic	Coding sequence variant, missense variant
rs1557668270	G>T	Pathogenic	Coding sequence variant, missense variant
rs1557670503	G>T	Pathogenic	Coding sequence variant, missense variant
rs1557670515	T>G	Pathogenic	Coding sequence variant, missense variant
rs1557670520	G>T	Pathogenic	Coding sequence variant, missense variant

229

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miRTarBase ID	miRNA	Experiments	Reference
MIRT018609	hsa-miR-335-5p	Microarray	18185580
MIRT024354	hsa-miR-215-5p	Microarray	19074876
MIRT024354	hsa-miR-215-5p	Microarray	19074876
MIRT026727	hsa-miR-192-5p	Microarray	19074876
MIRT031887	hsa-miR-16-5p	Proteomics	18668040
MIRT051446	hsa-let-7e-5p	CLASH	23622248
MIRT049242	hsa-miR-92a-3p	CLASH	23622248
MIRT049242	hsa-miR-92a-3p	CLASH	23622248
MIRT047816	hsa-miR-30d-5p	CLASH	23622248
MIRT046675	hsa-miR-222-3p	CLASH	23622248
MIRT045723	hsa-miR-125a-5p	CLASH	23622248
MIRT040282	hsa-miR-615-3p	CLASH	23622248
MIRT038342	hsa-miR-296-3p	CLASH	23622248
MIRT137383	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT137384	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT1124911	hsa-miR-124	CLIP-seq
MIRT1124912	hsa-miR-1275	CLIP-seq
MIRT1124913	hsa-miR-144	CLIP-seq
MIRT1124914	hsa-miR-15a	CLIP-seq
MIRT1124915	hsa-miR-15b	CLIP-seq
MIRT1124916	hsa-miR-16	CLIP-seq
MIRT1124917	hsa-miR-195	CLIP-seq
MIRT1124918	hsa-miR-19a	CLIP-seq
MIRT1124919	hsa-miR-19b	CLIP-seq
MIRT1124920	hsa-miR-2355-3p	CLIP-seq
MIRT1124921	hsa-miR-25	CLIP-seq
MIRT1124922	hsa-miR-2681	CLIP-seq
MIRT1124923	hsa-miR-3120-3p	CLIP-seq
MIRT1124924	hsa-miR-3140-5p	CLIP-seq
MIRT1124925	hsa-miR-3160-3p	CLIP-seq
MIRT1124926	hsa-miR-3185	CLIP-seq
MIRT1124927	hsa-miR-3189-5p	CLIP-seq
MIRT1124928	hsa-miR-32	CLIP-seq
MIRT1124929	hsa-miR-342-5p	CLIP-seq
MIRT1124930	hsa-miR-34b	CLIP-seq
MIRT1124931	hsa-miR-3607-5p	CLIP-seq
MIRT1124932	hsa-miR-363	CLIP-seq
MIRT1124933	hsa-miR-367	CLIP-seq
MIRT1124934	hsa-miR-3677-5p	CLIP-seq
MIRT1124935	hsa-miR-3681	CLIP-seq
MIRT1124936	hsa-miR-3714	CLIP-seq
MIRT1124937	hsa-miR-377	CLIP-seq
MIRT1124938	hsa-miR-3910	CLIP-seq
MIRT1124939	hsa-miR-3973	CLIP-seq
MIRT1124940	hsa-miR-409-5p	CLIP-seq
MIRT1124941	hsa-miR-424	CLIP-seq
MIRT1124942	hsa-miR-4452	CLIP-seq
MIRT1124943	hsa-miR-4461	CLIP-seq
MIRT1124944	hsa-miR-451b	CLIP-seq
MIRT1124945	hsa-miR-4524	CLIP-seq
MIRT1124946	hsa-miR-4645-3p	CLIP-seq
MIRT1124947	hsa-miR-4646-3p	CLIP-seq
MIRT1124948	hsa-miR-4663	CLIP-seq
MIRT1124949	hsa-miR-4664-5p	CLIP-seq
MIRT1124950	hsa-miR-4665-5p	CLIP-seq
MIRT1124951	hsa-miR-4680-3p	CLIP-seq
MIRT1124952	hsa-miR-4680-5p	CLIP-seq
MIRT1124953	hsa-miR-4718	CLIP-seq
MIRT1124954	hsa-miR-4719	CLIP-seq
MIRT1124955	hsa-miR-4773	CLIP-seq
MIRT1124956	hsa-miR-4789-5p	CLIP-seq
MIRT1124957	hsa-miR-4796-3p	CLIP-seq
MIRT1124958	hsa-miR-4802-5p	CLIP-seq
MIRT1124959	hsa-miR-497	CLIP-seq
MIRT1124960	hsa-miR-503	CLIP-seq
MIRT1124961	hsa-miR-506	CLIP-seq
MIRT1124962	hsa-miR-5095	CLIP-seq
MIRT1124963	hsa-miR-520g	CLIP-seq
MIRT1124964	hsa-miR-520h	CLIP-seq
MIRT1124965	hsa-miR-628-5p	CLIP-seq
MIRT1124966	hsa-miR-646	CLIP-seq
MIRT1124967	hsa-miR-676	CLIP-seq
MIRT1124968	hsa-miR-885-5p	CLIP-seq
MIRT1124969	hsa-miR-92a	CLIP-seq
MIRT1124970	hsa-miR-92b	CLIP-seq
MIRT1124971	hsa-miR-1285	CLIP-seq
MIRT1124913	hsa-miR-144	CLIP-seq
MIRT1124972	hsa-miR-217	CLIP-seq
MIRT1124973	hsa-miR-2276	CLIP-seq
MIRT1124974	hsa-miR-23a	CLIP-seq
MIRT1124975	hsa-miR-23b	CLIP-seq
MIRT1124976	hsa-miR-23c	CLIP-seq
MIRT1124921	hsa-miR-25	CLIP-seq
MIRT1124977	hsa-miR-296-5p	CLIP-seq
MIRT1124978	hsa-miR-3187-5p	CLIP-seq
MIRT1124927	hsa-miR-3189-5p	CLIP-seq
MIRT1124928	hsa-miR-32	CLIP-seq
MIRT1124979	hsa-miR-338-5p	CLIP-seq
MIRT1124980	hsa-miR-3612	CLIP-seq
MIRT1124932	hsa-miR-363	CLIP-seq
MIRT1124933	hsa-miR-367	CLIP-seq
MIRT1124981	hsa-miR-3671	CLIP-seq
MIRT1124982	hsa-miR-371-5p	CLIP-seq
MIRT1124983	hsa-miR-371b-5p	CLIP-seq
MIRT1124984	hsa-miR-378g	CLIP-seq
MIRT1124940	hsa-miR-409-5p	CLIP-seq
MIRT1124985	hsa-miR-4314	CLIP-seq
MIRT1124986	hsa-miR-4418	CLIP-seq
MIRT1124987	hsa-miR-4459	CLIP-seq
MIRT1124988	hsa-miR-4486	CLIP-seq
MIRT1124946	hsa-miR-4645-3p	CLIP-seq
MIRT1124952	hsa-miR-4680-5p	CLIP-seq
MIRT1124989	hsa-miR-4695-5p	CLIP-seq
MIRT1124990	hsa-miR-494	CLIP-seq
MIRT1124991	hsa-miR-509-3-5p	CLIP-seq
MIRT1124962	hsa-miR-5095	CLIP-seq
MIRT1124992	hsa-miR-509-5p	CLIP-seq
MIRT1124993	hsa-miR-579	CLIP-seq
MIRT1124994	hsa-miR-590-3p	CLIP-seq
MIRT1124995	hsa-miR-612	CLIP-seq
MIRT1124996	hsa-miR-650	CLIP-seq
MIRT1124997	hsa-miR-665	CLIP-seq
MIRT1124968	hsa-miR-885-5p	CLIP-seq
MIRT1124969	hsa-miR-92a	CLIP-seq
MIRT1124970	hsa-miR-92b	CLIP-seq
MIRT1124911	hsa-miR-124	CLIP-seq
MIRT1124977	hsa-miR-296-5p	CLIP-seq
MIRT1124927	hsa-miR-3189-5p	CLIP-seq
MIRT1124979	hsa-miR-338-5p	CLIP-seq
MIRT1124936	hsa-miR-3714	CLIP-seq
MIRT1124938	hsa-miR-3910	CLIP-seq
MIRT1124940	hsa-miR-409-5p	CLIP-seq
MIRT2035274	hsa-miR-410	CLIP-seq
MIRT1124961	hsa-miR-506	CLIP-seq
MIRT1124962	hsa-miR-5095	CLIP-seq
MIRT1124968	hsa-miR-885-5p	CLIP-seq
MIRT2035275	hsa-miR-944	CLIP-seq
MIRT2265776	hsa-miR-142-5p	CLIP-seq
MIRT1124913	hsa-miR-144	CLIP-seq
MIRT2265777	hsa-miR-186	CLIP-seq
MIRT1124921	hsa-miR-25	CLIP-seq
MIRT1124922	hsa-miR-2681	CLIP-seq
MIRT2265778	hsa-miR-299-5p	CLIP-seq
MIRT1124923	hsa-miR-3120-3p	CLIP-seq
MIRT2265779	hsa-miR-3133	CLIP-seq
MIRT1124924	hsa-miR-3140-5p	CLIP-seq
MIRT1124928	hsa-miR-32	CLIP-seq
MIRT1124979	hsa-miR-338-5p	CLIP-seq
MIRT2265780	hsa-miR-340	CLIP-seq
MIRT1124930	hsa-miR-34b	CLIP-seq
MIRT1124931	hsa-miR-3607-5p	CLIP-seq
MIRT1124980	hsa-miR-3612	CLIP-seq
MIRT2265781	hsa-miR-3614-5p	CLIP-seq
MIRT1124932	hsa-miR-363	CLIP-seq
MIRT2265782	hsa-miR-3647-3p	CLIP-seq
MIRT1124933	hsa-miR-367	CLIP-seq
MIRT1124937	hsa-miR-377	CLIP-seq
MIRT1124939	hsa-miR-3973	CLIP-seq
MIRT1124940	hsa-miR-409-5p	CLIP-seq
MIRT2265783	hsa-miR-4275	CLIP-seq
MIRT2265784	hsa-miR-4328	CLIP-seq
MIRT1124942	hsa-miR-4452	CLIP-seq
MIRT1124987	hsa-miR-4459	CLIP-seq
MIRT1124943	hsa-miR-4461	CLIP-seq
MIRT1124944	hsa-miR-451b	CLIP-seq
MIRT2265785	hsa-miR-4539	CLIP-seq
MIRT1124946	hsa-miR-4645-3p	CLIP-seq
MIRT1124951	hsa-miR-4680-3p	CLIP-seq
MIRT1124952	hsa-miR-4680-5p	CLIP-seq
MIRT1124989	hsa-miR-4695-5p	CLIP-seq
MIRT1124953	hsa-miR-4718	CLIP-seq
MIRT2265786	hsa-miR-4762-3p	CLIP-seq
MIRT1124956	hsa-miR-4789-5p	CLIP-seq
MIRT1124957	hsa-miR-4796-3p	CLIP-seq
MIRT1124958	hsa-miR-4802-5p	CLIP-seq
MIRT1124990	hsa-miR-494	CLIP-seq
MIRT1124962	hsa-miR-5095	CLIP-seq
MIRT1124963	hsa-miR-520g	CLIP-seq
MIRT1124964	hsa-miR-520h	CLIP-seq
MIRT2265787	hsa-miR-548aa	CLIP-seq
MIRT2265788	hsa-miR-586	CLIP-seq
MIRT1124994	hsa-miR-590-3p	CLIP-seq
MIRT1124966	hsa-miR-646	CLIP-seq
MIRT1124996	hsa-miR-650	CLIP-seq
MIRT1124997	hsa-miR-665	CLIP-seq
MIRT1124968	hsa-miR-885-5p	CLIP-seq
MIRT1124969	hsa-miR-92a	CLIP-seq
MIRT1124970	hsa-miR-92b	CLIP-seq
MIRT1124911	hsa-miR-124	CLIP-seq
MIRT1124913	hsa-miR-144	CLIP-seq
MIRT1124918	hsa-miR-19a	CLIP-seq
MIRT1124919	hsa-miR-19b	CLIP-seq
MIRT1124921	hsa-miR-25	CLIP-seq
MIRT1124922	hsa-miR-2681	CLIP-seq
MIRT2565082	hsa-miR-3183	CLIP-seq
MIRT1124928	hsa-miR-32	CLIP-seq
MIRT1124979	hsa-miR-338-5p	CLIP-seq
MIRT1124931	hsa-miR-3607-5p	CLIP-seq
MIRT1124932	hsa-miR-363	CLIP-seq
MIRT1124933	hsa-miR-367	CLIP-seq
MIRT1124936	hsa-miR-3714	CLIP-seq
MIRT1124938	hsa-miR-3910	CLIP-seq
MIRT2035274	hsa-miR-410	CLIP-seq
MIRT1124946	hsa-miR-4645-3p	CLIP-seq
MIRT1124952	hsa-miR-4680-5p	CLIP-seq
MIRT2565083	hsa-miR-4713-5p	CLIP-seq
MIRT1124953	hsa-miR-4718	CLIP-seq
MIRT2565084	hsa-miR-4723-3p	CLIP-seq
MIRT2565085	hsa-miR-4753-3p	CLIP-seq
MIRT1124990	hsa-miR-494	CLIP-seq
MIRT1124961	hsa-miR-506	CLIP-seq
MIRT2565086	hsa-miR-520d-5p	CLIP-seq
MIRT2565087	hsa-miR-524-5p	CLIP-seq
MIRT2565088	hsa-miR-548c-3p	CLIP-seq
MIRT2565089	hsa-miR-642a	CLIP-seq
MIRT1124969	hsa-miR-92a	CLIP-seq
MIRT1124970	hsa-miR-92b	CLIP-seq
MIRT2035275	hsa-miR-944	CLIP-seq
MIRT1124913	hsa-miR-144	CLIP-seq
MIRT1124918	hsa-miR-19a	CLIP-seq
MIRT1124919	hsa-miR-19b	CLIP-seq
MIRT1124921	hsa-miR-25	CLIP-seq
MIRT1124922	hsa-miR-2681	CLIP-seq
MIRT2565082	hsa-miR-3183	CLIP-seq
MIRT1124928	hsa-miR-32	CLIP-seq
MIRT1124979	hsa-miR-338-5p	CLIP-seq
MIRT1124931	hsa-miR-3607-5p	CLIP-seq
MIRT1124932	hsa-miR-363	CLIP-seq
MIRT1124933	hsa-miR-367	CLIP-seq
MIRT1124946	hsa-miR-4645-3p	CLIP-seq
MIRT1124952	hsa-miR-4680-5p	CLIP-seq
MIRT1124953	hsa-miR-4718	CLIP-seq
MIRT2565084	hsa-miR-4723-3p	CLIP-seq
MIRT2565085	hsa-miR-4753-3p	CLIP-seq
MIRT1124990	hsa-miR-494	CLIP-seq
MIRT2565089	hsa-miR-642a	CLIP-seq
MIRT1124969	hsa-miR-92a	CLIP-seq
MIRT1124970	hsa-miR-92b	CLIP-seq
MIRT1124979	hsa-miR-338-5p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003779	Function	Actin binding	IDA	10559237
GO:0003779	Function	Actin binding	IEA
GO:0005198	Function	Structural molecule activity	IBA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	15265687, 17043677, 27693509, 27802168, 31413325
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	10559237, 15265687, 16076900
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA	15265687, 16076900
GO:0005794	Component	Golgi apparatus	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005856	Component	Cytoskeleton	NAS	10529403
GO:0005874	Component	Microtubule	IBA
GO:0005874	Component	Microtubule	IDA	16076900
GO:0005874	Component	Microtubule	IEA
GO:0005882	Component	Intermediate filament	IBA
GO:0005886	Component	Plasma membrane	IDA	20937854
GO:0005886	Component	Plasma membrane	IEA
GO:0008017	Function	Microtubule binding	IEA
GO:0010632	Process	Regulation of epithelial cell migration	ISS
GO:0015629	Component	Actin cytoskeleton	IBA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0022603	Process	Regulation of anatomical structure morphogenesis	IEA
GO:0030177	Process	Positive regulation of Wnt signaling pathway	ISS
GO:0030334	Process	Regulation of cell migration	IDA	27693509
GO:0030334	Process	Regulation of cell migration	IEA
GO:0031252	Component	Cell leading edge	IEA
GO:0031344	Process	Regulation of cell projection organization	IEA
GO:0032587	Component	Ruffle membrane	IDA	20937854
GO:0032587	Component	Ruffle membrane	IEA
GO:0032886	Process	Regulation of microtubule-based process	IBA
GO:0032886	Process	Regulation of microtubule-based process	IEA
GO:0032886	Process	Regulation of microtubule-based process	IMP	20937854
GO:0042060	Process	Wound healing	IBA
GO:0042060	Process	Wound healing	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043001	Process	Golgi to plasma membrane protein transport	IDA	15265687
GO:0045104	Process	Intermediate filament cytoskeleton organization	IBA
GO:0045104	Process	Intermediate filament cytoskeleton organization	IEA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045773	Process	Positive regulation of axon extension	IDA	22705394
GO:0046872	Function	Metal ion binding	IEA
GO:0051011	Function	Microtubule minus-end binding	IDA	27693509
GO:0051015	Function	Actin filament binding	IDA	27693509
GO:0051015	Function	Actin filament binding	NAS	10529403, 10559237
GO:0051239	Process	Regulation of multicellular organismal process	IEA
GO:0051893	Process	Regulation of focal adhesion assembly	IBA
GO:0051893	Process	Regulation of focal adhesion assembly	IDA	27693509
GO:0051893	Process	Regulation of focal adhesion assembly	IEA
GO:0051893	Process	Regulation of focal adhesion assembly	ISS
GO:0090150	Process	Establishment of protein localization to membrane	IEA
GO:0150011	Process	Regulation of neuron projection arborization	ISS

MIM	HGNC	e!Ensembl
608271	13664	ENSG00000127603

Q9UPN3

Protein name

Microtubule-actin cross-linking factor 1, isoforms 1/2/3/4/5 (620 kDa actin-binding protein) (ABP620) (Actin cross-linking family protein 7) (Macrophin-1) (Trabeculin-alpha)

Protein function

[Isoform 2]: F-actin-binding protein which plays a role in cross-linking actin to other cytoskeletal proteins and also binds to microtubules (PubMed:15265687, PubMed:20937854). Plays an important role in ERBB2-dependent stabilization of microtub

PDB

4Z6G , 5VE9 , 5X57

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00307	CH	78 → 182	Calponin homology (CH) domain	Domain
PF00307	CH	194 → 299	Calponin homology (CH) domain	Domain
PF17902	SH3_10	857 → 923	SH3 domain	Domain
PF18373	Spectrin_like	958 → 1035	Spectrin like domain	Domain
PF00681	Plectin	1578 → 1618	Plectin repeat	Repeat
PF00681	Plectin	1655 → 1695	Plectin repeat	Repeat
PF00681	Plectin	1769 → 1809	Plectin repeat	Repeat
PF00681	Plectin	1807 → 1847	Plectin repeat	Repeat
PF00681	Plectin	2291 → 2331	Plectin repeat	Repeat
PF00681	Plectin	2367 → 2407	Plectin repeat	Repeat
PF00681	Plectin	2405 → 2439	Plectin repeat	Repeat
PF00681	Plectin	2501 → 2541	Plectin repeat	Repeat
PF00681	Plectin	2687 → 2727	Plectin repeat	Repeat
PF00435	Spectrin	3882 → 3994	Spectrin repeat	Domain
PF00435	Spectrin	3999 → 4109	Spectrin repeat	Domain
PF00435	Spectrin	4465 → 4574	Spectrin repeat	Domain
PF00435	Spectrin	4798 → 4905	Spectrin repeat	Domain
PF00435	Spectrin	4908 → 5012	Spectrin repeat	Domain
PF00435	Spectrin	5234 → 5341	Spectrin repeat	Domain
PF00435	Spectrin	5344 → 5450	Spectrin repeat	Domain
PF00435	Spectrin	5453 → 5559	Spectrin repeat	Domain
PF00435	Spectrin	5780 → 5885	Spectrin repeat	Domain
PF00435	Spectrin	6004 → 6110	Spectrin repeat	Domain
PF00435	Spectrin	6113 → 6220	Spectrin repeat	Domain
PF00435	Spectrin	6223 → 6329	Spectrin repeat	Domain
PF00435	Spectrin	6332 → 6439	Spectrin repeat	Domain
PF00435	Spectrin	6442 → 6548	Spectrin repeat	Domain
PF00435	Spectrin	6551 → 6658	Spectrin repeat	Domain
PF00435	Spectrin	6663 → 6766	Spectrin repeat	Domain
PF00435	Spectrin	6769 → 6875	Spectrin repeat	Domain
PF13499	EF-hand_7	7043 → 7107	EF-hand domain pair	Domain
PF02187	GAS2	7122 → 7190	Growth-Arrest-Specific Protein 2 Domain	Family

Tissue specificity

TISSUE SPECIFICITY: Isoform 2: Ubiquitously expressed. Isoform 1: Expressed in cell lines NCI-H460, A-549 and HaCaT. Isoform 4: Expressed in heart, lung, pituitary and placenta, not found in brain, kidney, liver, pancreas or skeletal muscle. {ECO:0000269|

Sequence

MSSSDEETLSERSCRSERSCRSERSYRSERSGSLSPCPPGDTLPWNLPLHEQKKRKSQDS
VLDPAERAVVRVADERDRVQKKTFTKWVNKHLMKVRKHINDLYEDLRDGHNLISLLEVLS
GIKLPREKGRMRFHRLQNVQIALDFLKQRQVKLVNIRNDDITDGNPKLTLGLIWTIILHF
QISDIYISGESGDMSAKEKLLLWTQKVTAGYTGIKCTNFSSCWSDGKMFNALIHRYRPDL
VDMERVQIQSNRENLEQAFEVAERLGVTRLLDAEDVDVPSPDEKSVITYVSSIYDAFPKV
PEGGEGISATEVDSRWQEYQSRVDSLIPWIKQHTILMSDKTFPQNPVELKALYNQYIHFK
ETEILAKEREKGRIEELYKLLEVWIEFGRIKLPQGYHPNDVEEEWGKLIIEMLEREKSLR
PAVERLELLLQIANKIQNGALNCEEKLTLAKNTLQADAAHLESGQPVQCESDVIMYIQEC
EGLIRQLQVDLQILRDENYYQLEELAFRVMRLQDELVTLRLECTNLYRKGHFTSLELVPP
STLTTTHLKAEPLTKATHSSSTSWFRKPMTRAELVAISSSEDEGNLRFVYELLSWVEEMQ
MKLERAEWGNDLPSVELQLETQQHIHTSVEELGSSVKEARLYEGKMSQNFHTSYAETLGK
LETQYCKLKETSSFRMRHLQSLHKFVSRATAELIWLNEKEEEELAYDWSDNNSNISAKRN
YFSELTMELEEKQDVFRSLQDTAELLSLENHPAKQTVEAYSAAVQSQLQWMKQLCLCVEQ
HVKENTAYFQFFSDARELESFLRNLQDSIKRKYSCDHNTSLSRLEDLLQDSMDEKEQLIQ
SKSSVASLVGRSKTIVQLKPRSPDHVLKNTISVKAVCDYRQIEITICKNDECVLEDNSQR
TKWKVISPTGNEAMVPSVCFLIPPPNKDAIEMASRVEQSYQKVMALWHQLHVNTKSLISW
NYLRKDLDLVQTWNLEKLRSSAPGECHQIMKNLQAHYEDFLQDSRDSVLFSVADRLRLEE
EVEACKARFQHLMKSMENEDKEETVAKMYISELKNIRLRLEEYEQRVVKRIQSLASSRTD
RDAWQDNALRIAEQEHTQEDLQQLRSDLDAVSMKCDSFLHQSPSSSSVPTLRSELNLLVE
KMDHVYGLSTVYLNKLKTVDVIVRSIQDAELLVKGYEIKLSQEEVVLADLSALEAHWSTL
RHWLSDVKDKNSVFSVLDEEIAKAKVVAEQMSRLTPERNLDLERYQEKGSQLQERWHRVI
AQLEIRQSELESIQEVLGDYRACHGTLIKWIEETTAQQEMMKPGQAEDSRVLSEQLSQQT
ALFAEIERNQTKLDQCQKFSQQYSTIVKDYELQLMTYKAFVESQQKSPGKRRRMLSSSDA
ITQEFMDLRTRYTALVTLTTQHVKYISDALRRLEEEEKVVEEEKQEHVEKVKELLGWVST
LARNTQGKATSSETKESTDIEKAILEQQVLSEELTTKKEQVSEAIKTSQIFLAKHGHKLS
EKEKKQISEQLNALNKAYHDLCDGSANQLQQLQSQLAHQTEQKECRAVAGVIDLGTVEIF
PIFKAMQKGLLDQDTGLVLLESQVIMSGLIAPETGENLSLEEGIARNLINPQMYQQLREL
QDALALISRLTESRGPLSVVEAIEKRIISETVGLKILEAHLATGGFSLSPSENCINLEEA
FHQGLISAWLHSVLESYLRTSKNLIDPNTAEKIGLLDLMQRCIVHQESGFKLLPVKQLAG
GMVSLKSGRKVSIFRAVQEGLIDRQVTVRLLEAQLFAGGIVDPRTGHRLTVEEAVRHNLI
DQDMACAILIRQLQTGGIIDTVTGQRLTIDEAVSNDLVAAKIALVILESLWSFMGLLWPE
SGEILPITDALEQGIVSTELAHKILSNRQHIKALFLPATTEILSWKKAIESGILDRDLAN
NLKSICIPDVMPHMQLADSAEQNINPGAAVLPCSKSHPKATASQSENLLFQLMTHSYINV
QNGQRLLLLDKELMETLTSRDEYQTSPPKVVEIGHQRQKTPEGLQESANVKISGTFSSGW
TVRLPEFQFSSQNKEYPDREDCTTEKGKKTTVETEDSSVENPEQDLFVEQKERNPNIDAL
KVINKVKLEVQRQLIGTQREDQTAVSVRENASRGHLLTIPPAEAEGVPLVVDKDVFSVET
PKKEHQPLRNTSFTCQNEQAHTLETEYIHDETGGSHIKPQSKKLQVQVKKTLGIKLELKS
ETDGNVHPLDKKEMLKKTFLAKDDHKESQEAQNIAGGSMMMSEKTDEEDSGREIFLSCSH
PLELLEEATLNVLSAQLLDGGIFHEQTGQKLLLNEAISRGIVPSHTAVKLMEKLNMFQGF
FDSQTCESLTTEEVINEGLMDEKLLHNVLMADKAISGVLDPRTQTLCSVKDAVTVGLLDK
ETATRILERQVVTGGIIDLKRGKKVSVTLASTLGLVDVADQPELINLEKASKGRDAEKTV
RERLISLQMETTGLIDPDSKAPLTVVQSIDRGLLEREEAVRLLTKQVVDGGIIHHISGMR
LSVDNAFRHGLIGEDLAEKLKRVENLNIHQIFNPETKENISLPKAIKLDLITSDLKREIQ
EVQAFTGNFVDLISGQRLTLAEAKKEGLLTNEAVLSPGMMHGIVDPENCRIVPYSELVKK
CKIDIESGQRYLEVIPFSDIKDGVSDKVLTLSQAIQLGKVDFASTLKVLEAQANTGGIID
TATGKRLTLASALEEKLVDENMVRIIASHQVLNGGIVDIFSDQRVTLVEAIEKRLISPEL
ANMIQIDSSEFSDHRAQIEKQEGIEVCALQNEFLGKDMLIACNQTAEMSCNKVEESERLF
QVENQSAQEKVKVRVSDGEQAKKSREISLKEFGCKDQRKPRMSSDAKEFISIINPHNLKG
KSLGQVSLTHPYSECDFKLKEVARNNMGNDTNEEQEKAVTKIEIISHMKQSTSCLDSEEI
RENQGEVILEVQETYCETSGKLPSEQVLQQPMNARVKSKREKREVIVEESIRTCKPAFLS
EEKLYQETAIRDEHDSHIKSQPREMTSSEKGKEADTEMGFSITFKIEESSSQVVPQGISV
KHLDALTLFSSKQANEGKVNNLSLCLTLKPEENLSREIACGAQSEPFPCMTPRPEGLHYQ
ESDGKAQVTGPSQISKTDKSFQGTTRQETNYQDSWVTSKTKETKHQISSSNECKEKSYQE
VSFDPARGLKLEEITVSRPDSKEVRYLEFSDRKDLHHQGSKSDDKLCGTLKSEIATQELT
GEKFLEMANPNVAGLEAGSIEDIVTQRGSRVLGSFLPEKLFKGVSQKENTGQQNAIISPT
VLETSEEKTVSLTVCSAVKTEKTPQEKLRESPGSEQTPFMTAPEGKGNGGVNPEPFRATQ
NVFTRQLCLEHDEKLVSYLSLLRNIEMRTKQIQPLELNLAELQDLLCQAKVLERELKDLT
TLVSQELECVNQIIISQPQEVPAQLLKALEKDAKNLQKSLSSVSDTWNSRLLHFQNAVEI
EKTKVLNQHTQLEGRLQDLRAWVGNKNLILNSKGSNSEIDVDSLNLCLQQYEDLKQPMAE
RKAQLDALAFDIQFFISEHAQDLSPQQNRQMLRLLNELQRSFQDILEQTAAQVDALQGHL
QQMEQEALVKTLQKQQNTCHQQLEDLCSWVGQAERALAGHQGRTTQQDLSALQKNQSDLK
DLQDDIQNRATSFATVVKDIEGFMEENQTKLSPRELTALREKLHQAKEQYEALQEETRVA
QKELEEAVTSALQQETEKSKAAKELAENKKKIDALLDWVTSVGSSGGQLLTNLPGMEQLS
GASLEKGALDTTDGYMGVNQAPEKLDKQCEMMKARHQELLSQQQNFILATQSAQAFLDQH
GHNLTPEEQQMLQQKLGELKEQYSTSLAQSEAELKQVQTLQDELQKFLQDHKEFESWLER
SEKELENMHKGGSSPETLPSLLKRQGSFSEDVISHKGDLRFVTISGQKVLDMENSFKEGK
EPSEIGNLVKDKLKDATERYTALHSKCTRLGSHLNMLLGQYHQFQNSADSLQAWMQACEA
NVEKLLSDTVASDPGVLQEQLATTKQLQEELAEHQVPVEKLQKVARDIMEIEGEPAPDHR
HVQETTDSILSHFQSLSYSLAERSSLLQKAIAQSQSVQESLESLLQSIGEVEQNLEGKQV
SSLSSGVIQEALATNMKLKQDIARQKSSLEATREMVTRFMETADSTTAAVLQGKLAEVSQ
RFEQLCLQQQEKESSLKKLLPQAEMFEHLSGKLQQFMENKSRMLASGNQPDQDITHFFQQ
IQELNLEMEDQQENLDTLEHLVTELSSCGFALDLCQHQDRVQNLRKDFTELQKTVKEREK
DASSCQEQLDEFRKLVRTFQKWLKETEGSIPPTETSMSAKELEKQIEHLKSLLDDWASKG
TLVEEINCKGTSLENLIMEITAPDSQGKTGSILPSVGSSVGSVNGYHTCKDLTEIQCDMS
DVNLKYEKLGGVLHERQESLQAILNRMEEVHKEANSVLQWLESKEEVLKSMDAMSSPTKT
ETVKAQAESNKAFLAELEQNSPKIQKVKEALAGLLVTYPNSQEAENWKKIQEELNSRWER
ATEVTVARQRQLEESASHLACFQAAESQLRPWLMEKELMMGVLGPLSIDPNMLNAQKQQV
QFMLKEFEARRQQHEQLNEAAQGILTGPGDVSLSTSQVQKELQSINQKWVELTDKLNSRS
SQIDQAIVKSTQYQELLQDLSEKVRAVGQRLSVQSAISTQPEAVKQQLEETSEIRSDLEQ
LDHEVKEAQTLCDELSVLIGEQYLKDELKKRLETVALPLQGLEDLAADRINRLQAALAST
QQFQQMFDELRTWLDDKQSQQAKNCPISAKLERLQSQLQENEEFQKSLNQHSGSYEVIVA
EGESLLLSVPPGEEKRTLQNQLVELKNHWEELSKKTADRQSRLKDCMQKAQKYQWHVEDL
VPWIEDCKAKMSELRVTLDPVQLESSLLRSKAMLNEVEKRRSLLEILNSAADILINSSEA
DEDGIRDEKAGINQNMDAVTEELQAKTGSLEEMTQRLREFQESFKNIEKKVEGAKHQLEI
FDALGSQACSNKNLEKLRAQQEVLQALEPQVDYLRNFTQGLVEDAPDGSDASQLLHQAEV
AQQEFLEVKQRVNSGCVMMENKLEGIGQFHCRVREMFSQLADLDDELDGMGAIGRDTDSL
QSQIEDVRLFLNKIHVLKLDIEASEAECRHMLEEEGTLDLLGLKRELEALNKQCGKLTER
GKARQEQLELTLGRVEDFYRKLKGLNDATTAAEEAEALQWVVGTEVEIINQQLADFKMFQ
KEQVDPLQMKLQQVNGLGQGLIQSAGKDCDVQGLEHDMEEINARWNTLNKKVAQRIAQLQ
EALLHCGKFQDALEPLLSWLADTEELIANQKPPSAEYKVVKAQIQEQKLLQRLLDDRKAT
VDMLQAEGGRIAQSAELADREKITGQLESLESRWTELLSKAAARQKQLEDILVLAKQFHE
TAEPISDFLSVTEKKLANSEPVGTQTAKIQQQIIRHKALNEEIVNRKKNVDQAIKNGQAL
LKQTTGEEVLLIQEKLDGIKTRYADITVTSSKALRTLEQARQLATKFQSTYEELTGWLRE
VEEELATSGGQSPTGEQIPQFQQRQKELKKEVMEHRLVLDTVNEVSRALLELVPWRAREG
LDKLVSDANEQYKLVSDTIGQRVDEIDAAIQRSQQYEQAADAELAWVAETKRKLMALGPI
RLEQDQTTAQLQVQKAFSIDIIRHKDSMDELFSHRSEIFGTCGEEQKTVLQEKTESLIQQ
YEAISLLNSERYARLERAQVLVNQFWETYEELSPWIEETRALIAQLPSPAIDHEQLRQQQ
EEMRQLRESIAEHKPHIDKLLKIGPQLKELNPEEGEMVEEKYQKAENMYAQIKEEVRQRA
LALDEAVSQSTQITEFHDKIEPMLETLENLSSRLRMPPLIPAEVDKIRECISDNKSATVE
LEKLQPSFEALKRRGEELIGRSQGADKDLAAKEIQDKLDQMVFFWEDIKARAEEREIKFL
DVLELAEKFWYDMAALLTTIKDTQDIVHDLESPGIDPSIIKQQVEAAETIKEETDGLHEE
LEFIRILGADLIFACGETEKPEVRKSIDEMNNAWENLNKTWKERLEKLEDAMQAAVQYQD
TLQAMFDWLDNTVIKLCTMPPVGTDLNTVKDQLNEMKEFKVEVYQQQIEMEKLNHQGELM
LKKATDETDRDIIREPLTELKHLWENLGEKIAHRQHKLEGALLALGQFQHALEELMSWLT
HTEELLDAQRPISGDPKVIEVELAKHHVLKNDVLAHQATVETVNKAGNELLESSAGDDAS
SLRSRLEAMNQCWESVLQKTEEREQQLQSTLQQAQGFHSEIEDFLLELTRMESQLSASKP
TGGLPETAREQLDTHMELYSQLKAKEETYNQLLDKGRLMLLSRDDSGSGSKTEQSVALLE
QKWHVVSSKMEERKSKLEEALNLATEFQNSLQEFINWLTLAEQSLNIASPPSLILNTVLS
QIEEHKVFANEVNAHRDQIIELDQTGNQLKFLSQKQDVVLIKNLLVSVQSRWEKVVQRSI
ERGRSLDDARKRAKQFHEAWKKLIDWLEDAESHLDSELEISNDPDKIKLQLSKHKEFQKT
LGGKQPVYDTTIRTGRALKEKTLLPEDSQKLDNFLGEVRDKWDTVCGKSVERQHKLEEAL
LFSGQFMDALQALVDWLYKVEPQLAEDQPVHGDLDLVMNLMDAHKVFQKELGKRTGTVQV
LKRSGRELIENSRDDTTWVKGQLQELSTRWDTVCKLSVSKQSRLEQALKQAEVFRDTVHM
LLEWLSEAEQTLRFRGALPDDTEALQSLIDTHKEFMKKVEEKRVDVNSAVAMGEVILAVC
HPDCITTIKHWITIIRARFEEVLTWAKQHQQRLETALSELVANAELLEELLAWIQWAETT
LIQRDQEPIPQNIDRVKALIAEHQTFMEEMTRKQPDVDRVTKTYKRKNIEPTHAPFIEKS
RSGGRKSLSQPTPPPMPILSQSEAKNPRINQLSARWQQVWLLALERQRKLNDALDRLEEL
KEFANFDFDVWRKKYMRWMNHKKSRVMDFFRRIDKDQDGKITRQEFIDGILASKFPTTKL
EMTAVADIFDRDGDGYIDYYEFVAALHPNKDAYRPTTDADKIEDEVTRQVAQCKCAKRFQ
VEQIGENKYRFGDSQQLRLVRILRSTVMVRVGGGWMALDEFLVKNDPCRARGRTNIELRE
KFILPEGASQGMTPFRSRGRRSKPSSRAASPTRSSSSASQSNHSCTSMPSSPATPASGTK
VIPSSGSKLKRPTPTFHSSRTSLAGDTSNSSSPASTGAKTNRADPKKSASRPGSRAGSRA
GSRASSRRGSDASDFDLLETQSACSDTSESSAAGGQGNSRRGLNKPSKIPTMSKKTTTAS
PRTPGPKR

Sequence length

7388

O94854

Protein name

Microtubule-actin cross-linking factor 1, isoforms 6/7 (Uncharacterized protein KIAA0754)

Family and domains

Sequence

MPPNFPEFAERIEASLSEVSEAGASNPSLQEKKESSSALTESSGHLDHREPQSESVTLEH
VSKSIGIPEVQDFKNLSGDCQDFRFQQHSANPPHEFQPVESEAVATSGNTDVMQESRFSS
ATWPRATKSLAKGGFSEKQHPLGDTACTVEMPPLSPCLSEELLDPELHVLITPSLREKTE
SELKFEEDERWIMMEAEGEWEEEKLSDREKTFLMADEKNSLADIFEEREQANTAVVEDGS
DCLAAVLRTFGHLSLGQICCPDDPQPAKDQLATVPKDIPLDCDCVLTGEDILGEVANRTA
QGLEGLVSDSACTVGTIDAEQLSDTDSVQMFLELEKECLCEEGVTPLVELQNQISSEGLA
ASQDAENLLVISHFSGAALEKEQHLGLLHVRAKDYDTRLDCGYFNTLDSSQVPNAVELIA
HVDIMRDTSTVSKEECEKVPFSPRTAEFKSRQPADLDSLEKLDPGGLLNSDHRVSHEEKL
SGFIASELAKDNGSLSQGDCSQTEGNGEECIERVTFSFAFNHELTDVTSGPEVEVLYESN
LLTDEIHLESGNVTVNQENNSLTSMGNVVTCELSVEKVCDEDGEAKELDYQATLLEDQAP
AHFHRNFPEQVFQDLQRKSPESEILSLHLLVEELRLNPDGVETVNDTKPELNVASSEGGE
MERRDSDSFLNIFPEKQVTKAGNTEPVLEEWIPVLQRPSRTAAVPTVKDALDAALPSPEE
GTSIAAVPAPEGTAVVAALVPFPHEDILVASIVSLEEEDVTAAAVSAPERATVPAVTVSV
PEGTAAVAAVSSPEETAPAVAAAITQEGMSAVAGFSPEWAALAITVPITEEDGTPEGPVT
PATTVHAPEEPDTAAVRVSTPEEPASPAAAVPTPEEPTSPAAAVPTPEEPTSPAAAVPPP
EEPTSPAAAVPTPEEPTSPAAAVPTPEEPTSPAAAVPTPEEPTSPAAAVPTPEEPTSPAA
AVPTPEEPTSPAAAVPTPEEPASPAAAVPTPEEPASPAAAVPTPEEPAFPAPAVPTPEES
ASAAVAVPTPEESASPAAAVPTPAESASFAAVVATLEEPTSPAASVPTPAAMVATLEEFT
SPAASVPTSEEPASLAAAVSNPEEPTSPAAAVPTLEEPTSSAAAVLTPEELSSPAASVPT
PEEPASPAAAVSNLEEPASPAAAVPTPEVAAIPAASVPTPEVPAIPAAAVPPMEEVSPIG
VPFLGVSAHTDSVPISEEGTPVLEEASSTGMWIKEDLDSLVFGIKEVTSTVLHGKVPLAA
TAGLNSDEVIVHFDSGKGLKSKVRFAGLTWW

Sequence length

1291

Interactions

View interactions

400

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Lissencephaly	Likely pathogenic; Pathogenic	rs1488808726, rs1557668270	RCV000714230 RCV002227490
Lissencephaly 9 with complex brainstem malformation	Likely pathogenic; Pathogenic	rs2148401189, rs2148518682, rs1644602877, rs2124125451, rs766558667, rs2523390651, rs1307065903, rs2523351526, rs2523048155, rs1488808726, rs1557668270, rs1557670503, rs1557670515, rs1557670520	RCV002221924 RCV002250100 RCV002262168 RCV002273310 RCV003142541 RCV003148062 RCV003223498 RCV003881718 RCV003990835 RCV000855687 RCV000855682 RCV000855683 RCV000855684 RCV000855685
lissencephaly with brainstem hypoplasia	Pathogenic; Likely pathogenic	rs1557668270, rs1557670503, rs1557670515, rs1557670520	RCV001291259 RCV001291260 RCV001291261 RCV001291262
Lissencephaly with decussation defect	Pathogenic; Likely pathogenic	rs1557668270, rs1557670503, rs1557670515, rs1557670520	RCV000714225 RCV000714226 RCV000714227 RCV000714228
Short stature	Likely pathogenic	rs755081350	RCV000736161

Show/Hide Unknown Diseases (26)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormal corpus callosum morphology	Uncertain significance; Conflicting classifications of pathogenicity	rs1553231631, rs138819868	RCV000656101 RCV000656100
Acute myeloid leukemia	Benign; Likely benign	rs78256423, rs139995582, rs41307884, rs760971159	RCV005911452 RCV005910253 RCV005907501 RCV005906477
Cervical cancer	Benign; Conflicting classifications of pathogenicity; Likely benign	rs11205900, rs139258331, rs139995582	RCV005915797 RCV005926595 RCV005910254
Cholangiocarcinoma	Benign	rs78256423, rs3736890	RCV005911453 RCV005919933
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity; Benign; Likely benign	rs144367111, rs139995582	RCV005920597 RCV005910255
Cleft palate	Conflicting classifications of pathogenicity	rs146089082	RCV005623491
Colon adenocarcinoma	Likely benign; Benign	rs745940735, rs41307884	RCV005937555 RCV005907500
Congenital cerebellar hypoplasia	Uncertain significance	rs1218844508	RCV001257992
Facial hemangioma	Uncertain significance	rs1218844508	RCV000779639
Familial cancer of breast	Benign; Likely benign	rs143526587	RCV005931361
Gastric cancer	Benign; Likely benign	rs139995582	RCV005910256
Global developmental delay	Uncertain significance	rs2148637793	RCV001527618
Hepatocellular carcinoma	Benign	rs16826093	RCV005918568
Isolated unilateral hemispheric cerebellar hypoplasia	Uncertain significance	rs1218844508	RCV000779639
Lung cancer	Benign; Likely benign	rs41307884	RCV005907505
MACF1-related disorder	Benign; Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	rs72930231, rs2296172, rs16826093, rs41270803, rs587404, rs144367111, rs377031601, rs682351, rs150560748, rs74718295, rs116026083, rs151273405, rs200464985, rs139801751, rs6673570 View all (126 more)	RCV003931246 RCV003980799 RCV003975830 RCV003975873 RCV003975909 RCV003910985 RCV004743588 RCV003913744 RCV004744309 RCV004744297 RCV004744286 RCV003911347 RCV003978697 RCV003941285 RCV004744251 RCV004744228 RCV003916367 RCV003960977 RCV003933736 RCV003963568 RCV003936584 RCV003926723 RCV003963719 RCV003898539 RCV003403932 RCV003943541 RCV003916565 RCV003906283 RCV003906284 RCV003963373 RCV003926501 RCV003916583 RCV003963421 RCV003409961 RCV004744473 RCV003961207 RCV003936379 RCV003943553 RCV003936388 RCV003961261 RCV003926583 RCV003916660 RCV003926595 RCV003943674 RCV004744497 RCV003973581 RCV003926600 RCV003961277 RCV003926616 RCV003973566 RCV003916652 RCV003961270 RCV003961331 RCV003906440 RCV004744648 RCV003900892 RCV003963745 RCV003963754 RCV003906614 RCV003954017 RCV004741539 RCV003918989 RCV003919021 RCV003412068 RCV003391443 RCV003412439 RCV003402400 RCV003406081 RCV003397684 RCV003394476 RCV003404706 RCV003399486 RCV003399898 RCV003391323 RCV003408476 RCV003402749 RCV003410860 RCV003412141 RCV003414186 RCV003412270 RCV003405878 RCV004741600 RCV003980973 RCV003966481 RCV003966470 RCV004741631 RCV003966513 RCV003919318 RCV003909084 RCV003919337 RCV004741694 RCV004741704 RCV003893550 RCV003921721 RCV003981744 RCV003893713 RCV003893984 RCV003894176 RCV003906778 RCV003904505 RCV003904651 RCV003964579 RCV003982576 RCV003901510 RCV003893823 RCV003899783 RCV003899881 RCV003902040 RCV003899138 RCV003899632 RCV003911584 RCV003934064 RCV003939798 RCV003927322 RCV003961574 RCV003941367 RCV003941376 RCV003959052 RCV003932130 RCV003952265 RCV003954433 RCV003977015 RCV003981882 RCV003957229 RCV003957272 RCV003957341 RCV003969723 RCV003962259 RCV003968935 RCV003966911 RCV003902806 RCV003926075 RCV003915811 RCV003935847 RCV003957962 RCV003930722 RCV003950722 RCV003940857 RCV003932913 RCV004743230 RCV004743375
Malignant lymphoma, large B-cell, diffuse	Benign	rs2296172, rs16826093, rs3736890	RCV005918092 RCV005918569 RCV005919932
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs145184556	RCV005926430
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs754144854, rs41307884	RCV005931345 RCV005907503
Prostate cancer	Uncertain significance	rs193920913, rs193920778	RCV000149194 RCV000149195
Sarcoma	Benign; Likely benign	rs41307884	RCV005907502
See cases	Conflicting classifications of pathogenicity; Uncertain significance	rs368764004, rs1205644060, rs1641863660, rs577233378, rs757376311	RCV002287527 RCV002252806 RCV002252948 RCV002253156 RCV002287782
Skeletal dysplasia	Conflicting classifications of pathogenicity	rs752117651	RCV005626416
Spectraplakinopathy type I	Conflicting classifications of pathogenicity; Uncertain significance	rs573837366, rs143548063, rs141025026, rs1649101862, rs761190322, rs745399595	RCV001263161 RCV001263162 RCV001263160 RCV001263163 RCV001263158 RCV001263159
Thymoma	Benign; Likely benign	rs139995582	RCV005910257
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs139995582, rs41307884	RCV005910258 RCV005907504

Show/Hide Text Mining Associations (40)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	23874428, 37589509
Atherosclerosis	Associate	36207684
Autism Spectrum Disorder	Associate	39781307, 40350249
Autistic Disorder	Associate	39781307
Bone Diseases	Associate	32143362
Brain Stem Neoplasms	Associate	30471716
Breast Neoplasms	Associate	35589867
Carcinoma Renal Cell	Associate	24504440, 39871215
Central Nervous System Vascular Malformations	Associate	30471716
Child Development Disorders Pervasive	Associate	39781307
Cognition Disorders	Associate	39781307
Colorectal Neoplasms	Associate	27207650
Congenital Abnormalities	Associate	30471716
Dermatitis Exfoliative	Associate	40350249
Diabetes Mellitus	Associate	30519591
Diabetes Mellitus Type 2	Associate	23160641
Dystonic Disorders	Associate	31190668
Epilepsy	Associate	31190668, 39781307
Hand Foot Syndrome	Associate	28715540
Hydrocephalus	Associate	40603987
Hypersensitivity Delayed	Associate	40350249
Kosztolanyi syndrome	Associate	32143362
Lissencephaly	Associate	30471716, 40350249
Lung Neoplasms	Associate	21041478
Lung Neoplasms	Stimulate	33737492
Muscular Dystrophies	Associate	37721175
Muscular Dystrophies Limb Girdle	Associate	37721175
Myasthenic Syndromes Congenital	Associate	37721175
Neoplasm Metastasis	Associate	23874428
Neoplasms	Associate	21041478, 31427592, 36779847
Neurodegenerative Diseases	Associate	32143362, 39781307
Non Muscle Invasive Bladder Neoplasms	Associate	33388091
Osteoporosis	Associate	32143362
Osteoporotic Fractures	Inhibit	32143362
Pancreatic Neoplasms	Associate	32925750
Peritonitis	Associate	31570735
Primary Ovarian Insufficiency	Associate	33036707
Schizophrenia	Associate	30471716
Seizures	Associate	39781307, 40350249
Thyroid Neoplasms	Associate	36672824

MACF1 (microtubule actin crosslinking factor 1)