Entity Details

Primary name MACF1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9UPN3
EntryNameMACF1_HUMAN
FullNameMicrotubule-actin cross-linking factor 1, isoforms 1/2/3/5
TaxID9606
Evidenceevidence at protein level
Length7388
SequenceStatuscomplete
DateCreated2001-06-01
DateModified2021-06-02

Ontological Relatives

GenesMACF1

GO terms

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GOName
GO:0003723 RNA binding
GO:0003779 actin binding
GO:0005198 structural molecule activity
GO:0005509 calcium ion binding
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005856 cytoskeleton
GO:0005874 microtubule
GO:0005886 plasma membrane
GO:0010632 regulation of epithelial cell migration
GO:0015629 actin cytoskeleton
GO:0016020 membrane
GO:0016055 Wnt signaling pathway
GO:0016887 ATP hydrolysis activity
GO:0030177 positive regulation of Wnt signaling pathway
GO:0030334 regulation of cell migration
GO:0032587 ruffle membrane
GO:0032886 regulation of microtubule-based process
GO:0042060 wound healing
GO:0043001 Golgi to plasma membrane protein transport
GO:0045104 intermediate filament cytoskeleton organization
GO:0045296 cadherin binding
GO:0045773 positive regulation of axon extension
GO:0051011 microtubule minus-end binding
GO:0051015 actin filament binding
GO:0051893 regulation of focal adhesion assembly
GO:0150011 regulation of neuron projection arborization

Subcellular Location

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Subcellular Location
Cell membrane
Cell projection
Cytoplasm
Golgi apparatus

Domains

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DomainNameCategoryType
IPR001101 Plectin repeatRepeatRepeat
IPR001452 SH3 domainDomainDomain
IPR001589 Actinin-type actin-binding domain, conserved siteSiteConserved site
IPR001715 Calponin homology domainDomainDomain
IPR002017 Spectrin repeatRepeatRepeat
IPR002048 EF-hand domainDomainDomain
IPR003108 GAR domainDomainDomain
IPR011992 EF-hand domain pairFamilyHomologous superfamily
IPR018159 Spectrin/alpha-actininRepeatRepeat
IPR018247 EF-Hand 1, calcium-binding siteSiteBinding site
IPR035915 Plakin repeat superfamilyFamilyHomologous superfamily
IPR036534 GAR domain superfamilyFamilyHomologous superfamily
IPR036872 CH domain superfamilyFamilyHomologous superfamily
IPR041573 Desmoplakin, spectrin-like domainDomainDomain
IPR041615 Desmoplakin, SH3 domainDomainDomain
IPR043197 PlakinFamilyFamily

Diseases

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Disease IDSourceNameDescription
618325 OMIMLissencephaly 9 with complex brainstem malformation (LIS9)A form of lissencephaly, a disorder of cortical development characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. LIS9 is an autosomal dominant form clinically characterized by global developmental delay apparent since infancy, impaired intellectual development with poor or absent speech, and sometimes abnormal or involuntary movements. Brain imaging shows malformation of the brainstem, in addition to pachygyria and lissencephaly. The disease is caused by variants affecting the gene represented in this entry.

Interactions

41 interactions

InteractorPartnerSourcesPublicationsLink
MACF1_HUMANNRCAM_HUMANBioGRID, IntAct12421765 details
MACF1_HUMANNRX1A_HUMANBioGRID, IntAct12421765 details
MACF1_HUMANPLXD1_HUMANBioGRID, IntAct12421765 details
MACF1_HUMANCNTP2_HUMANBioGRID, IntAct12421765 details
MACF1_HUMANNRX2A_HUMANBioGRID, IntAct12421765 details
MACF1_HUMANTNG6_HUMANBioGRID, IntAct12421765 details
MACF1_HUMANCNTP4_HUMANBioGRID, IntAct12421765 details
MACF1_HUMANSKIL_HUMANBioGRID, MINT15231748 details
MACF1_HUMANMCAF1_HUMANMINT15231748 details
MACF1_HUMANDISC1_HUMANBioGRID, IntAct17043677 31413325 details
MACF1_HUMANDTBP1_HUMANBioGRID, IntAct17043677 details
MACF1_HUMANEXOC1_HUMANBioGRID, IntAct17043677 31413325 details
MACF1_HUMANCDC5L_HUMANBioGRID, MINT17043677 20467437 details
MACF1_HUMANAPC_HUMANBioGRID, IntAct20936779 details
MACF1_HUMANJUN_HUMANBioGRID, IntAct20936779 details
MACF1_HUMANMK09_HUMANBioGRID, IntAct20936779 details
MACF1_HUMANFHL1_HUMANBioGRID, IntAct23414517 details
MACF1_HUMANSNAPN_HUMANBioGRID, IntAct23414517 details
MACF1_HUMANSNP47_HUMANIntAct26359495 details
MACF1_HUMANMTR1B_HUMANBioGRID, IntAct26514267 details
MACF1_HUMANMARE1_HUMANBioGRID, IntAct23001180 26186194 28514442 34079125 details
MACF1_HUMANTNIK_HUMANBioGRID, IntAct17043677 31413325 details
MACF1_HUMANCEP63_HUMANBioGRID, IntAct17043677 31413325 details
MACF1_HUMANMIPT3_HUMANBioGRID, IntAct17043677 31413325 details
MACF1_HUMANERR1_HUMANBioGRID15604093 details
MACF1_HUMANNRX1B_HUMANBioGRID12421765 details
MACF1_HUMANNRX2B_HUMANBioGRID12421765 details
MACF1_HUMANKPCD_HUMANBioGRID20395553 details
MACF1_HUMANSRPK2_HUMANBioGRID26167880 details
MACF1_HUMANUBC_HUMANBioGRID28190767 details
MACF1_HUMANTEN1_HUMANBioGRID25648896 details
MACF1_HUMANSAP18_HUMANIntAct17353931 details
MACF1_HUMAN3MG_HUMANIntAct17353931 details
MACF1_HUMANOPTN_HUMANIntAct20195357 details
MACF1_HUMANRAB21_HUMANIntAct22705394 details
MACF1_HUMANFMR1_HUMANIntAct31413325 details
MACF1_HUMANCD2AP_HUMANIntAct31413325 details
MACF1_HUMANCHP3_HUMANIntAct31413325 details
MACF1_HUMANTERF2_HUMANBioGRID20811636 details
MACF1_HUMANABCE1_HUMANBioGRID25659154 details
MACF1_HUMANATOH1_HUMANBioGRID27542412 details