ALPK1
entrez
80216
canonical
uniprot
Q96QP1
canonical
ensembl
ENSG00000073331
resolver
ensp
ENSP00000177648
resolver
ensp
ENSP00000426044
resolver
ensp
ENSP00000498374
resolver
genesymbol
ALPK1
resolver
genesymbol_syn
KIAA1527
resolver
genesymbol_syn
LAK
resolver
hgnc
HGNC:20917
resolver
uniprot
B4E3G1
resolver
uniprot
F5H138
resolver
uniprot
Q68CI9
resolver
uniprot
Q6P9F9
resolver
uniprot
Q6ZNK4
resolver
uniprot
Q9P201
resolver
uniprot_entry
ALPK1_HUMAN
resolver
uniprot_sec
B4E3G1
resolver
uniprot_sec
F5H138
resolver
uniprot_sec
Q68CI9
resolver
uniprot_sec
Q6P9F9
resolver
uniprot_sec
Q6ZNK4
resolver
uniprot_sec
Q9P201
resolver
activity_regulation
ACTIVITY REGULATION: Serine/threonine-protein kinase activity is stimulated upon ADP-D-glycero-beta-D-manno-heptose (ADP-Heptose)-binding. {ECO:0000269|PubMed:30111836}.
uniprot
proteins
amino_acid_sequence
MNNQKVVAVLLQECKQVLDQLLLEAPDVSEEDKSEDQRCRALLPSELRTLIQEAKEMKWPFVPEKWQYKQAVGPEDKTNLKDVIGAGLQQLLASLRASILARDCAAAAAIVFLVDRFLYGLDVSGKLLQVAKGLHKLQPATPIAPQVVIRQARISVNSGKLLKAEYILSSLISNNGATGTWLYRNESDKVLVQSVCIQIRGQILQKLGMWYEAAELIWASIVGYLALPQPDKKGLSTSLGILADIFVSMSKNDYEKFKNNPQINLSLLKEFDHHLLSAAEACKLAAAFSAYTPLFVLTAVNIRGTCLLSYSSSNDCPPELKNLHLCEAKEAFEIGLLTKRDDEPVTGKQELHSFVKAAFGLTTVHRRLHGETGTVHAASQLCKEAMGKLYNFSTSSRSQDREALSQEVMSVIAQVKEHLQVQSFSNVDDRSYVPESFECRLDKLILHGQGDFQKILDTYSQHHTSVCEVFESDCGNNKNEQKDAKTGVCITALKTEIKNIDTVSTTQEKPHCQRDTGISSSLMGKNVQRELRRGGRRNWTHSDAFRVSLDQDVETETEPSDYSNGEGAVFNKSLSGSQTSSAWSNLSGFSSSASWEEVNYHVDDRSARKEPGKEHLVDTQCSTALSEELENDREGRAMHSLHSQLHDLSLQEPNNDNLEPSQNQPQQQMPLTPFSPHNTPGIFLAPGAGLLEGAPEGIQEVRNMGPRNTSAHSRPSYRSASWSSDSGRPKNMGTHPSVQKEEAFEIIVEFPETNCDVKDRQGKEQGEEISERGAGPTFKASPSWVDPEGETAESTEDAPLDFHRVLHNSLGNISMLPCSSFTPNWPVQNPDSRKSGGPVAEQGIDPDASTVDEEGQLLDSMDVPCTNGHGSHRLCILRQPPGQRAETPNSSVSGNILFPVLSEDCTTTEEGNQPGNMLNCSQNSSSSSVWWLKSPAFSSGSSEGDSPWSYLNSSGSSWVSLPGKMRKEILEARTLQPDDFEKLLAGVRHDWLFQRLENTGVFKPSQLHRAHSALLLKYSKKSELWTAQETIVYLGDYLTVKKKGRQRNAFWVHHLHQEEILGRYVGKDYKEQKGLWHHFTDVERQMTAQHYVTEFNKRLYEQNIPTQIFYIPSTILLILEDKTIKGCISVEPYILGEFVKLSNNTKVVKTEYKATEYGLAYGHFSYEFSNHRDVVVDLQGWVTGNGKGLIYLTDPQIHSVDQKVFTTNFGKRGIFYFFNNQHVECNEICHRLSLTRPSMEKPCT
uniprot
proteins
disease_involvement
DISEASE: Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome (ROSAH) [MIM:614979]: An autosomal dominant disorder characterized by decreased vision associated with optic nerve edema, evident in childhood. Low-grade ocular inflammation is common in affected individuals. Later in childhood or the second decade of life, patients have increasing visual impairment, abnormal cone function and loss of rod function. By the third decade of life, visual acuity ranges from counting fingers to no light perception. Patients also show anhidrosis, splenomegaly, mild pancytopenia, and most experience headaches that may be migraine-like in nature. {ECO:0000269|PubMed:30967659, ECO:0000269|PubMed:31939038, ECO:0000269|PubMed:35868845, ECO:0000269|PubMed:38060563, ECO:0000269|PubMed:39626775}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.11.1
uniprot
proteins
function
FUNCTION: Serine/threonine-protein kinase that detects bacterial pathogen-associated molecular pattern metabolites (PAMPs) and initiates an innate immune response, a critical step for pathogen elimination and engagement of adaptive immunity (PubMed:28222186, PubMed:28877472, PubMed:30111836). Specifically recognizes and binds ADP-D-glycero-beta-D-manno-heptose (ADP-Heptose), a potent PAMP present in all Gram-negative and some Gram-positive bacteria (PubMed:30111836). ADP-Heptose-binding stimulates its kinase activity to phosphorylate and activate TIFA, triggering pro-inflammatory NF-kappa-B signaling (PubMed:30111836, PubMed:35868845, PubMed:38060563). May be involved in monosodium urate monohydrate (MSU)-induced inflammation by mediating phosphorylation of unconventional myosin MYO9A (PubMed:27169898). May also play a role in apical protein transport by mediating phosphorylation of unconventional myosin MYO1A (PubMed:15883161). May play a role in ciliogenesis (PubMed:30967659). {ECO:0000269|PubMed:15883161, ECO:0000269|PubMed:27169898, ECO:0000269|PubMed:28222186, ECO:0000269|PubMed:28877472, ECO:0000269|PubMed:30111836, ECO:0000269|PubMed:30967659, ECO:0000269|PubMed:35868845, ECO:0000269|PubMed:38060563}.
uniprot
proteins
mass_dalton
138861
uniprot
proteins
mutagenesis
MUTAGEN 67; /note="Q->A: Impaired ADP-D-glycero-beta-D-manno-heptose-binding and ability to activate the serine/threonine-protein kinase activity; when associated with A-231."; /evidence="ECO:0000269|PubMed:30111836"; MUTAGEN 116; /note="R->A: Impaired ADP-D-glycero-beta-D-manno-heptose-binding and ability to activate the serine/threonine-protein kinase activity."; /evidence="ECO:0000269|PubMed:30111836"; MUTAGEN 150; /note="R->A: Impaired ADP-D-glycero-beta-D-manno-heptose-binding and ability to activate the serine/threonine-protein kinase activity."; /evidence="ECO:0000269|PubMed:30111836"; MUTAGEN 153; /note="R->A: Impaired ADP-D-glycero-beta-D-manno-heptose-binding and ability to activate the serine/threonine-protein kinase activity."; /evidence="ECO:0000269|PubMed:30111836"; MUTAGEN 231; /note="D->A: Impaired ADP-D-glycero-beta-D-manno-heptose-binding and ability to activate the serine/threonine-protein kinase activity; when associated with A-67."; /evidence="ECO:0000269|PubMed:30111836"; MUTAGEN 233; /note="K->A: Impaired ADP-D-glycero-beta-D-manno-heptose-binding and ability to activate the serine/threonine-protein kinase activity."; /evidence="ECO:0000269|PubMed:30111836"; MUTAGEN 237; /note="T->E: Impaired ADP-D-glycero-beta-D-manno-heptose-binding and ability to activate the serine/threonine-protein kinase activity; when associated with K-295."; /evidence="ECO:0000269|PubMed:30111836"; MUTAGEN 295; /note="F->K: Impaired ADP-D-glycero-beta-D-manno-heptose-binding and ability to activate the serine/threonine-protein kinase activity; when associated with E-237."; /evidence="ECO:0000269|PubMed:30111836"; MUTAGEN 1067; /note="K->M: Abolishes the serine/threonine-protein kinase and ability to initiate the innate immune response."; /evidence="ECO:0000269|PubMed:30111836"; MUTAGEN 1092; /note="V->A: The mutant is constitutively active in absence of ADP-Heptose. Activated by UDP-alpha-D-mannose and ADP-D-ribose."; /evidence="ECO:0000269|PubMed:38060563
uniprot
proteins
protein_family
ALPK subfamily
uniprot
proteins
protein_family
Alpha-type protein kinase family
uniprot
proteins
protein_family
Protein kinase superfamily
uniprot
proteins
pubmed
10021370
uniprot
proteins
pubmed
10819331
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15221005
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
15883161
uniprot
proteins
pubmed
17344846
uniprot
proteins
pubmed
27169898
uniprot
proteins
pubmed
28222186
uniprot
proteins
pubmed
28877472
uniprot
proteins
pubmed
30111836
uniprot
proteins
pubmed
30967659
uniprot
proteins
pubmed
31939038
uniprot
proteins
pubmed
35868845
uniprot
proteins
pubmed
38060563
uniprot
proteins
pubmed
39626775
uniprot
proteins
sequence_length
1244
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:30111836}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:30967659}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:30967659}. Cell projection, cilium {ECO:0000269|PubMed:30967659}. Note=Localized at the base of primary cilia. {ECO:0000269|PubMed:30967659}.
uniprot
proteins