Entity Details

Primary name MAK_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP20794
EntryNameMAK_HUMAN
FullNameSerine/threonine-protein kinase MAK
TaxID9606
Evidenceevidence at protein level
Length623
SequenceStatuscomplete
DateCreated1991-02-01
DateModified2021-06-02

Ontological Relatives

GenesMAK

GO terms

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GOName
GO:0001750 photoreceptor outer segment
GO:0001917 photoreceptor inner segment
GO:0003713 transcription coactivator activity
GO:0004672 protein kinase activity
GO:0004674 protein serine/threonine kinase activity
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005929 cilium
GO:0005930 axoneme
GO:0006468 protein phosphorylation
GO:0007275 multicellular organism development
GO:0007283 spermatogenesis
GO:0030154 cell differentiation
GO:0030496 midbody
GO:0031514 motile cilium
GO:0032391 photoreceptor connecting cilium
GO:0035556 intracellular signal transduction
GO:0042073 intraciliary transport
GO:0045494 photoreceptor cell maintenance
GO:0046777 protein autophosphorylation
GO:0046872 metal ion binding
GO:0060271 cilium assembly
GO:0072686 mitotic spindle
GO:0106310 protein serine kinase activity
GO:0106311 protein threonine kinase activity
GO:1902856 negative regulation of non-motile cilium assembly

Subcellular Location

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Subcellular Location
Cell projection
Cytoplasm
Midbody
Nucleus
Photoreceptor inner segment

Domains

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DomainNameCategoryType
IPR000719 Protein kinase domainDomainDomain
IPR008271 Serine/threonine-protein kinase, active siteSiteActive site
IPR011009 Protein kinase-like domain superfamilyFamilyHomologous superfamily
IPR017441 Protein kinase, ATP binding siteSiteBinding site

Diseases

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Disease IDSourceNameDescription
614181 OMIMRetinitis pigmentosa 62 (RP62)A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. The disease is caused by variants affecting the gene represented in this entry.