MACF1 - microtubule actin crosslinking factor 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23499

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 References 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 References 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 References 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

CH

CH: Calponin homology (CH) domain (81 - 181)

CH

CH: Calponin homology (CH) domain (197 - 297)

Plectin

Plectin: Plectin repeat (1577 - 1621)

Plectin

Plectin: Plectin repeat (1654 - 1696)

Plectin

Plectin: Plectin repeat (1769 - 1809)

Plectin

Plectin: Plectin repeat (1811 - 1848)

Plectin

Plectin: Plectin repeat (1855 - 1886)

Plectin

Plectin: Plectin repeat (2290 - 2333)

Plectin

Plectin: Plectin repeat (2367 - 2410)

Plectin

Plectin: Plectin repeat (2405 - 2437)

Plectin

Plectin: Plectin repeat (2501 - 2543)

Plectin

Plectin: Plectin repeat (2581 - 2612)

Plectin

Plectin: Plectin repeat (2686 - 2730)

Spectrin

Spectrin: Spectrin repeat (3883 - 3957)

Spectrin

Spectrin: Spectrin repeat (4000 - 4108)

Spectrin

Spectrin: Spectrin repeat (4466 - 4574)

Spectrin

Spectrin: Spectrin repeat (4800 - 4904)

Spectrin

Spectrin: Spectrin repeat (4909 - 5012)

Spectrin

Spectrin: Spectrin repeat (5236 - 5341)

Spectrin

Spectrin: Spectrin repeat (5348 - 5450)

Spectrin

Spectrin: Spectrin repeat (5455 - 5557)

Spectrin

Spectrin: Spectrin repeat (5783 - 5885)

Spectrin

Spectrin: Spectrin repeat (6005 - 6110)

Spectrin

Spectrin: Spectrin repeat (6115 - 6219)

Spectrin

Spectrin: Spectrin repeat (6225 - 6328)

Spectrin

Spectrin: Spectrin repeat (6333 - 6439)

Spectrin

Spectrin: Spectrin repeat (6443 - 6547)

Spectrin

Spectrin: Spectrin repeat (6552 - 6658)

Spectrin

Spectrin: Spectrin repeat (6665 - 6766)

Spectrin

Spectrin: Spectrin repeat (6771 - 6874)

EF-hand_7

EF-hand_7: EF-hand domain pair (7046 - 7105)

GAS2

GAS2: Growth-Arrest-Specific Protein 2 Domain (7120 - 7191)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS07942 MACF1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22621 Macf1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS29136 Macf1 Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others MACF1 NCBI