MACF1 - microtubule actin crosslinking factor 1 Gene

Homo sapiens

Also known as ACF7; LIS9; MACF; OFC4; ABP620; KIAA0754; Lnc-PMIF

Gene ID: 23499 | Gene type: protein coding

About MACF1

Cytogenetic location: 1p34.3 Genomic coordinates (GRCh38): 1:39,084,167-39,487,138 (from NCBI)

This gene has 58 transcripts (splice variants), 234 orthologues, 36 paralogues and is associated with 3 phenotypes. Ubiquitous expression in lung (RPKM 17.3), ovary (RPKM 13.9) and 25 other tissues.

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-microtubule interactions at the cell periphery and couples the microtubule network to cellular junctions. Alternative splicing results in multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, May 2013]

MACF1 Products(3)

mRNA	Protein	Name
NM_001394062.1	NP_001380991.1	microtubule-actin cross-linking factor 1 isoform 2
NM_001397473.1	NP_001384402.1	microtubule-actin cross-linking factor 1 isoform 3
NM_012090.5	NP_036222.3	microtubule-actin cross-linking factor 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables actin binding	IDA IDA: Inferred from direct assay	10559237	GOA
enables actin filament binding	IDA IDA: Inferred from direct assay	27693509	GOA
enables microtubule minus-end binding	IDA IDA: Inferred from direct assay	27693509	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15265687	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in Golgi to plasma membrane protein transport	IDA IDA: Inferred from direct assay	15265687	GOA
involved in positive regulation of axon extension	IDA IDA: Inferred from direct assay	22705394	GOA
involved in regulation of cell migration	IDA IDA: Inferred from direct assay	27693509	GOA
involved in regulation of focal adhesion assembly	IDA IDA: Inferred from direct assay	27693509	GOA
involved in regulation of microtubule-based process	IMP IMP: Inferred from mutant phenotype	20937854	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	15265687	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	10559237	GOA
located in microtubule	IDA IDA: Inferred from direct assay	16076900	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	20937854	GOA
located in ruffle membrane	IDA IDA: Inferred from direct assay	20937854	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MACF1 Protein Structure

Plectin

Spectrin

EF-hand_7

GAS2

0
1200
2400
3600
4800
6000
7200
7388 a.a.

Protein Preferred Names

Protein Names

microtubule-actin cross-linking factor 1

620 kDa actin binding protein

MACF1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	MACF1	Q9UPN3	DISC1	Homo sapiens	Q9NRI5-1	Y2H	17043677
Intra	MACF1	Q9UPN3	DISC1	Homo sapiens	Q9NRI5	Y2H	17043677

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Lissencephaly 9 With Complex Brainstem Malformation

LIS9	Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome

Lissencephaly

Pachygyria	Broad Gyri Of Cerebrum
Large Gyri Of Cerebrum	Macrogyria

Ovarian Endometrioid Adenofibroma

Paraneoplastic Pemphigus

Neuropathy, Hereditary Sensory And Autonomic, Type Vi

Hereditary Sensory And Autonomic Neuropathy Type 6	HSAN6
Hsan Vi	Hereditary Sensory And Autonomic Neuropathy Type Vi
Familial Dysautonomia With Contractures	Neuropathy, Hereditary Sensory And Autonomic, 6
Hereditary Sensory Neuropathy Type Vi	Hsn Vi
Neuropathy, Sensory And Autonomic, Hereditary, Type Vi

Epidermolysis Bullosa Simplex 5b, With Muscular Dystrophy

Epidermolysis Bullosa Simplex With Muscular Dystrophy	Md-Ebs
Epidermolysis Bullosa Simplex And Limb-Girdle Muscular Dystrophy	EBS5B
Ebsmd	Mdebs
Limb-Girdle Muscular Dystrophy With Epidermolysis Bullosa Simplex	Ebs-Md
Epidermolysa Bullosa Simplex And Limb Girdle Muscular Dystrophy	Epidermolysa Bullosa Simplex With Muscular Dystrophy
Epidermolysis Bullosa Simplex - Limb Girdle Muscular Dystrophy	Ebs With Muscular Dystrophy
Muscular Dystrophy With Epidermolysis Bullosa Simplex	Epidermolysa Bullosa Simplex, With Muscular Dystrophy

Cerebellar Ataxia Type 9

Sca9

Pilomyxoid Astrocytoma

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07942	MACF1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	MACF1	VGNC	VGNC:55610
Mus musculus	MACF1	MGD	MGI:108559
Macaca mulatta	MACF1	VGNC	VGNC:100006
Rattus norvegicus	MACF1	RGD	RGD:1306057
Felis catus	MACF1	VGNC	VGNC:107579
Canis familiaris	MACF1	VGNC	VGNC:54215

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