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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	23499
Gene name Gene Name - the full gene name approved by the HGNC.	Microtubule actin crosslinking factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MACF1
Synonyms (NCBI Gene) Gene synonyms aliases	ABP620, ACF7, KIAA0754, LIS9, Lnc-PMIF, MACF, OFC4
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p34.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(7)

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

Show/Hide all(229)

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

Show/Hide all(55)

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

Protein

UniProt ID

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

UniProt ID

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

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Lissencephaly	Lissencephaly 9 with complex brainstem malformation, lissencephaly	rs1488808726, rs1557668270, rs1557670503, rs1557670515, rs1557670520	N/A

Show/Hide Unknown Diseases (7)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
Astrocytoma	Pilocytic astrocytoma	N/A	N/A	GWAS
Colorectal Cancer	Colorectal cancer	N/A	N/A	GWAS
Deafness	autosomal dominant nonsyndromic hearing loss	N/A	N/A	GenCC
Diabetes	Type 2 diabetes (adjusted for BMI), Type 2 diabetes with renal manifestations (PheCode 250.22), Type 2 diabetes with ophthalmic manifestations (PheCode 250.23), Type 2 diabetes (PheCode 250.2), Type 2 diabetes	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Renal Carcinoma	Renal cell carcinoma	N/A	N/A	GWAS

Show/Hide Text Mining Associations (40)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)