Entity Details

Primary name ANK3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ12955
EntryNameANK3_HUMAN
FullNameAnkyrin-3
TaxID9606
Evidenceevidence at protein level
Length4377
SequenceStatuscomplete
DateCreated2002-07-11
DateModified2021-06-02

Ontological Relatives

GenesANK3

GO terms

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GOName
GO:0000281 mitotic cytokinesis
GO:0005200 structural constituent of cytoskeleton
GO:0005764 lysosome
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport
GO:0007009 plasma membrane organization
GO:0007165 signal transduction
GO:0007409 axonogenesis
GO:0007528 neuromuscular junction development
GO:0008092 cytoskeletal protein binding
GO:0008093 cytoskeletal anchor activity
GO:0009925 basal plasma membrane
GO:0009986 cell surface
GO:0010628 positive regulation of gene expression
GO:0010650 positive regulation of cell communication by electrical coupling
GO:0010765 positive regulation of sodium ion transport
GO:0010960 magnesium ion homeostasis
GO:0014704 intercalated disc
GO:0014731 spectrin-associated cytoskeleton
GO:0016323 basolateral plasma membrane
GO:0016328 lateral plasma membrane
GO:0016529 sarcoplasmic reticulum
GO:0019228 neuronal action potential
GO:0030018 Z disc
GO:0030315 T-tubule
GO:0030425 dendrite
GO:0030507 spectrin binding
GO:0030674 protein-macromolecule adaptor activity
GO:0031594 neuromuscular junction
GO:0033268 node of Ranvier
GO:0034112 positive regulation of homotypic cell-cell adhesion
GO:0042383 sarcolemma
GO:0043001 Golgi to plasma membrane protein transport
GO:0043005 neuron projection
GO:0043034 costamere
GO:0043194 axon initial segment
GO:0043266 regulation of potassium ion transport
GO:0044325 transmembrane transporter binding
GO:0045184 establishment of protein localization
GO:0045211 postsynaptic membrane
GO:0045296 cadherin binding
GO:0045838 positive regulation of membrane potential
GO:0071286 cellular response to magnesium ion
GO:0071709 membrane assembly
GO:0072659 protein localization to plasma membrane
GO:0072660 maintenance of protein location in plasma membrane
GO:0090314 positive regulation of protein targeting to membrane
GO:0099612 protein localization to axon
GO:1900827 positive regulation of membrane depolarization during cardiac muscle cell action potential
GO:1902260 negative regulation of delayed rectifier potassium channel activity
GO:2000651 positive regulation of sodium ion transmembrane transporter activity
GO:2001259 positive regulation of cation channel activity

Subcellular Location

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Subcellular Location
Cell junction
Cell membrane
Cell projection
Cytoplasm
Golgi apparatus
Lysosome

Domains

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DomainNameCategoryType
IPR000488 Death domainDomainDomain
IPR000906 ZU5 domainDomainDomain
IPR002110 Ankyrin repeatRepeatRepeat
IPR011029 Death-like domain superfamilyFamilyHomologous superfamily
IPR020683 Ankyrin repeat-containing domainDomainDomain
IPR036770 Ankyrin repeat-containing domain superfamilyFamilyHomologous superfamily
IPR037971 Ankyrin-3, death domainDomainDomain
IPR040745 Ankyrin, UPA domainDomainDomain

Diseases

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Disease IDSourceNameDescription
615493 OMIMMental retardation, autosomal recessive 37 (MRT37)A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT37 patients manifest delayed global development with speech delay, hypotonia, spasticity, and a sleep disorder. Severe behavioral abnormalities include aggression, hyperactivity, and grinding of the teeth. The disease is caused by variants affecting the gene represented in this entry. A homozygous deletion in ANK3 predicted to result in frameshift and premature truncation, has been shown to be the cause of moderate intellectual disability, an ADHD-like phenotype and behavioral problems in a consanguineous family (PubMed:23390136).

Interactions

37 interactions

InteractorPartnerSourcesPublicationsLink
ANK3_HUMANSMAD2_HUMANBioGRID, HPRD, IntAct, MINT15231748 20195357 details
ANK3_HUMANSMAD3_HUMANBioGRID, HPRD, MINT15231748 details
ANK3_HUMANMK06_HUMANBioGRID, IntAct20936779 details
ANK3_HUMANFLNC_HUMANbhf-ucl, BioGRID21223964 details
ANK3_HUMANPLEC_HUMANbhf-ucl, BioGRID21223964 details
ANK3_HUMANNAB2_HUMANBioGRID, IntAct32296183 details
ANK3_HUMANSCN5A_HUMANDIP19805355 details
ANK3_HUMANAP3B1_HUMANDIP19934039 details
ANK3_HUMANSRPK2_HUMANBioGRID26167880 details
ANK3_HUMANGBRAP_HUMANBioGRID29867141 details
ANK3_HUMANMLP3A_HUMANBioGRID29867141 details
ANK3_HUMANMLP3C_HUMANBioGRID29867141 details
ANK3_HUMANUSP9X_HUMANBioGRID32460012 details
ANK3_HUMANHOOK1_HUMANHPRD15823567 details
ANK3_HUMANTNR6_HUMANHPRD14694156 details
ANK3_HUMANNS1BP_HUMANBioGRID, IntAct27173435 unassigned1312 details
ANK3_HUMANTF3C4_HUMANBioGRID, IntAct27173435 unassigned1312 details
ANK3_HUMANEP15R_HUMANBioGRID, IntAct27173435 unassigned1312 details
ANK3_HUMANMCM6_HUMANBioGRID, IntAct27173435 unassigned1312 details
ANK3_HUMANMCM2_HUMANBioGRID, IntAct25963833 27173435 unassigned1312 details
ANK3_HUMANMCM4_HUMANBioGRID, IntAct27173435 unassigned1312 details
ANK3_HUMANJIP4_HUMANBioGRID, IntAct27173435 unassigned1312 details
ANK3_HUMANUBP15_HUMANBioGRID, IntAct27173435 unassigned1312 details
ANK3_HUMANPICAL_HUMANIntAct31413325 details
ANK3_HUMANNDEL1_HUMANIntAct31413325 details
ANK3_HUMANDISC1_HUMANIntAct31413325 details
ANK3_HUMANTNIK_HUMANIntAct31413325 details
ANK3_HUMANKCNC1_HUMANBioGRID, HPRD12805291 details
ANK3_HUMANSPTN4_HUMANBioGRID, HPRD11807096 details
ANK3_HUMANTIAM1_HUMANBioGRID10893266 details
ANK3_HUMANSCN1B_HUMANBioGRID, HPRD11997395 14761957 details
ANK3_HUMANGBRL1_HUMANBioGRID29867141 details
ANK3_HUMANMLP3B_HUMANBioGRID29867141 details
ANK3_HUMANSCN2A_HUMANHPRD12036953 details
ANK3_HUMANP85A_HUMANHPRD16377635 details
ANK3_HUMANSCNNB_HUMANHPRD11997395 details
ANK3_HUMANFADD_HUMANHPRD14694156 details