Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	80216
Gene name	Alpha kinase 1
Gene symbol	ALPK1
Synonyms (NCBI Gene)	8430410J10RikLAKROSAH
Chromosome	4
Chromosome location	4q25
Summary	This gene encodes an alpha kinase. Mice which were homozygous for disrupted copies of this gene exhibited coordination defects (PMID: 21208416). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, D

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1052954321	C>T	Likely-pathogenic	Coding sequence variant, missense variant

205

Show/Hide all (205)

miRTarBase ID	miRNA	Experiments
MIRT778968	hsa-miR-1200	CLIP-seq
MIRT778969	hsa-miR-1304	CLIP-seq
MIRT778970	hsa-miR-140-3p	CLIP-seq
MIRT778971	hsa-miR-1827	CLIP-seq
MIRT778972	hsa-miR-219-5p	CLIP-seq
MIRT778973	hsa-miR-2682	CLIP-seq
MIRT778974	hsa-miR-3074-5p	CLIP-seq
MIRT778975	hsa-miR-3127-5p	CLIP-seq
MIRT778976	hsa-miR-3161	CLIP-seq
MIRT778977	hsa-miR-3650	CLIP-seq
MIRT778978	hsa-miR-3661	CLIP-seq
MIRT778979	hsa-miR-3665	CLIP-seq
MIRT778980	hsa-miR-3944-5p	CLIP-seq
MIRT778981	hsa-miR-4324	CLIP-seq
MIRT778982	hsa-miR-4328	CLIP-seq
MIRT778983	hsa-miR-4445	CLIP-seq
MIRT778984	hsa-miR-4446-5p	CLIP-seq
MIRT778985	hsa-miR-4464	CLIP-seq
MIRT778986	hsa-miR-449c	CLIP-seq
MIRT778987	hsa-miR-4533	CLIP-seq
MIRT778988	hsa-miR-4666-5p	CLIP-seq
MIRT778989	hsa-miR-4747-5p	CLIP-seq
MIRT778990	hsa-miR-4748	CLIP-seq
MIRT778991	hsa-miR-4782-3p	CLIP-seq
MIRT778992	hsa-miR-492	CLIP-seq
MIRT778993	hsa-miR-508-3p	CLIP-seq
MIRT778994	hsa-miR-544b	CLIP-seq
MIRT778995	hsa-miR-592	CLIP-seq
MIRT778996	hsa-miR-597	CLIP-seq
MIRT778997	hsa-miR-599	CLIP-seq
MIRT778998	hsa-miR-631	CLIP-seq
MIRT778999	hsa-miR-657	CLIP-seq
MIRT779000	hsa-miR-660	CLIP-seq
MIRT778968	hsa-miR-1200	CLIP-seq
MIRT779001	hsa-miR-1229	CLIP-seq
MIRT779002	hsa-miR-135a	CLIP-seq
MIRT779003	hsa-miR-135b	CLIP-seq
MIRT778970	hsa-miR-140-3p	CLIP-seq
MIRT779004	hsa-miR-190	CLIP-seq
MIRT779005	hsa-miR-190b	CLIP-seq
MIRT779006	hsa-miR-2355-5p	CLIP-seq
MIRT778974	hsa-miR-3074-5p	CLIP-seq
MIRT779007	hsa-miR-3119	CLIP-seq
MIRT779008	hsa-miR-3140-3p	CLIP-seq
MIRT779009	hsa-miR-3156-5p	CLIP-seq
MIRT778976	hsa-miR-3161	CLIP-seq
MIRT779010	hsa-miR-3190	CLIP-seq
MIRT779011	hsa-miR-335	CLIP-seq
MIRT779012	hsa-miR-342-3p	CLIP-seq
MIRT779013	hsa-miR-3688-5p	CLIP-seq
MIRT779014	hsa-miR-3689a-5p	CLIP-seq
MIRT779015	hsa-miR-3689b	CLIP-seq
MIRT779016	hsa-miR-3689e	CLIP-seq
MIRT779017	hsa-miR-3689f	CLIP-seq
MIRT779018	hsa-miR-4255	CLIP-seq
MIRT779019	hsa-miR-4289	CLIP-seq
MIRT779020	hsa-miR-4318	CLIP-seq
MIRT779021	hsa-miR-4424	CLIP-seq
MIRT779022	hsa-miR-4452	CLIP-seq
MIRT779023	hsa-miR-4457	CLIP-seq
MIRT779024	hsa-miR-4491	CLIP-seq
MIRT779025	hsa-miR-4502	CLIP-seq
MIRT779026	hsa-miR-4657	CLIP-seq
MIRT779027	hsa-miR-4677-3p	CLIP-seq
MIRT779028	hsa-miR-513b	CLIP-seq
MIRT779029	hsa-miR-520f	CLIP-seq
MIRT779030	hsa-miR-526b	CLIP-seq
MIRT779031	hsa-miR-584	CLIP-seq
MIRT779000	hsa-miR-660	CLIP-seq
MIRT1929927	hsa-miR-103b	CLIP-seq
MIRT1929928	hsa-miR-1237	CLIP-seq
MIRT779006	hsa-miR-2355-5p	CLIP-seq
MIRT779010	hsa-miR-3190	CLIP-seq
MIRT1929929	hsa-miR-376a	CLIP-seq
MIRT1929930	hsa-miR-376b	CLIP-seq
MIRT1929931	hsa-miR-4274	CLIP-seq
MIRT1929932	hsa-miR-4297	CLIP-seq
MIRT1929933	hsa-miR-4302	CLIP-seq
MIRT779024	hsa-miR-4491	CLIP-seq
MIRT1929934	hsa-miR-4519	CLIP-seq
MIRT779026	hsa-miR-4657	CLIP-seq
MIRT779027	hsa-miR-4677-3p	CLIP-seq
MIRT778968	hsa-miR-1200	CLIP-seq
MIRT779001	hsa-miR-1229	CLIP-seq
MIRT1929928	hsa-miR-1237	CLIP-seq
MIRT2170703	hsa-miR-1256	CLIP-seq
MIRT779002	hsa-miR-135a	CLIP-seq
MIRT779003	hsa-miR-135b	CLIP-seq
MIRT778970	hsa-miR-140-3p	CLIP-seq
MIRT779004	hsa-miR-190	CLIP-seq
MIRT779005	hsa-miR-190b	CLIP-seq
MIRT2170704	hsa-miR-1976	CLIP-seq
MIRT2170705	hsa-miR-216a	CLIP-seq
MIRT778972	hsa-miR-219-5p	CLIP-seq
MIRT779006	hsa-miR-2355-5p	CLIP-seq
MIRT778974	hsa-miR-3074-5p	CLIP-seq
MIRT779007	hsa-miR-3119	CLIP-seq
MIRT779009	hsa-miR-3156-5p	CLIP-seq
MIRT2170706	hsa-miR-3157-5p	CLIP-seq
MIRT779010	hsa-miR-3190	CLIP-seq
MIRT2170707	hsa-miR-331-3p	CLIP-seq
MIRT779012	hsa-miR-342-3p	CLIP-seq
MIRT2170708	hsa-miR-365	CLIP-seq
MIRT2170709	hsa-miR-3657	CLIP-seq
MIRT2170710	hsa-miR-3679-3p	CLIP-seq
MIRT779014	hsa-miR-3689a-5p	CLIP-seq
MIRT779015	hsa-miR-3689b	CLIP-seq
MIRT779016	hsa-miR-3689e	CLIP-seq
MIRT779017	hsa-miR-3689f	CLIP-seq
MIRT2170711	hsa-miR-370	CLIP-seq
MIRT2170712	hsa-miR-4286	CLIP-seq
MIRT1929932	hsa-miR-4297	CLIP-seq
MIRT778981	hsa-miR-4324	CLIP-seq
MIRT779021	hsa-miR-4424	CLIP-seq
MIRT778983	hsa-miR-4445	CLIP-seq
MIRT779022	hsa-miR-4452	CLIP-seq
MIRT779023	hsa-miR-4457	CLIP-seq
MIRT779024	hsa-miR-4491	CLIP-seq
MIRT779025	hsa-miR-4502	CLIP-seq
MIRT2170713	hsa-miR-4641	CLIP-seq
MIRT779026	hsa-miR-4657	CLIP-seq
MIRT2170714	hsa-miR-4659a-5p	CLIP-seq
MIRT2170715	hsa-miR-4659b-5p	CLIP-seq
MIRT2170716	hsa-miR-4669	CLIP-seq
MIRT779027	hsa-miR-4677-3p	CLIP-seq
MIRT2170717	hsa-miR-4678	CLIP-seq
MIRT2170718	hsa-miR-4695-3p	CLIP-seq
MIRT2170719	hsa-miR-4716-5p	CLIP-seq
MIRT2170720	hsa-miR-4726-3p	CLIP-seq
MIRT2170721	hsa-miR-4727-5p	CLIP-seq
MIRT2170722	hsa-miR-4762-5p	CLIP-seq
MIRT2170723	hsa-miR-4768-5p	CLIP-seq
MIRT2170724	hsa-miR-4769-3p	CLIP-seq
MIRT778991	hsa-miR-4782-3p	CLIP-seq
MIRT778993	hsa-miR-508-3p	CLIP-seq
MIRT779028	hsa-miR-513b	CLIP-seq
MIRT2170725	hsa-miR-518a-5p	CLIP-seq
MIRT2170726	hsa-miR-527	CLIP-seq
MIRT778994	hsa-miR-544b	CLIP-seq
MIRT779031	hsa-miR-584	CLIP-seq
MIRT778995	hsa-miR-592	CLIP-seq
MIRT778997	hsa-miR-599	CLIP-seq
MIRT779000	hsa-miR-660	CLIP-seq
MIRT2473399	hsa-miR-106a	CLIP-seq
MIRT2473400	hsa-miR-106b	CLIP-seq
MIRT2473401	hsa-miR-1184	CLIP-seq
MIRT2473402	hsa-miR-1205	CLIP-seq
MIRT2473403	hsa-miR-1286	CLIP-seq
MIRT778970	hsa-miR-140-3p	CLIP-seq
MIRT2473404	hsa-miR-17	CLIP-seq
MIRT2473405	hsa-miR-20a	CLIP-seq
MIRT2473406	hsa-miR-20b	CLIP-seq
MIRT2473407	hsa-miR-218	CLIP-seq
MIRT2473408	hsa-miR-2467-3p	CLIP-seq
MIRT2473409	hsa-miR-2467-5p	CLIP-seq
MIRT2473410	hsa-miR-3153	CLIP-seq
MIRT2473411	hsa-miR-3158-5p	CLIP-seq
MIRT778976	hsa-miR-3161	CLIP-seq
MIRT2473412	hsa-miR-3194-3p	CLIP-seq
MIRT2473413	hsa-miR-3609	CLIP-seq
MIRT779013	hsa-miR-3688-5p	CLIP-seq
MIRT779020	hsa-miR-4318	CLIP-seq
MIRT2473414	hsa-miR-4722-5p	CLIP-seq
MIRT2473415	hsa-miR-4796-3p	CLIP-seq
MIRT2170725	hsa-miR-518a-5p	CLIP-seq
MIRT2473416	hsa-miR-519d	CLIP-seq
MIRT779030	hsa-miR-526b	CLIP-seq
MIRT2170726	hsa-miR-527	CLIP-seq
MIRT2473417	hsa-miR-548ah	CLIP-seq
MIRT2473418	hsa-miR-581	CLIP-seq
MIRT2473419	hsa-miR-583	CLIP-seq
MIRT779000	hsa-miR-660	CLIP-seq
MIRT2473420	hsa-miR-760	CLIP-seq
MIRT2473421	hsa-miR-93	CLIP-seq
MIRT2473399	hsa-miR-106a	CLIP-seq
MIRT2473400	hsa-miR-106b	CLIP-seq
MIRT2473401	hsa-miR-1184	CLIP-seq
MIRT2473402	hsa-miR-1205	CLIP-seq
MIRT2473403	hsa-miR-1286	CLIP-seq
MIRT778970	hsa-miR-140-3p	CLIP-seq
MIRT2473404	hsa-miR-17	CLIP-seq
MIRT2473405	hsa-miR-20a	CLIP-seq
MIRT2473406	hsa-miR-20b	CLIP-seq
MIRT2473407	hsa-miR-218	CLIP-seq
MIRT2473408	hsa-miR-2467-3p	CLIP-seq
MIRT2473409	hsa-miR-2467-5p	CLIP-seq
MIRT2473410	hsa-miR-3153	CLIP-seq
MIRT2473411	hsa-miR-3158-5p	CLIP-seq
MIRT778976	hsa-miR-3161	CLIP-seq
MIRT2674911	hsa-miR-3173-5p	CLIP-seq
MIRT2473412	hsa-miR-3194-3p	CLIP-seq
MIRT2473413	hsa-miR-3609	CLIP-seq
MIRT779013	hsa-miR-3688-5p	CLIP-seq
MIRT779020	hsa-miR-4318	CLIP-seq
MIRT2674912	hsa-miR-4323	CLIP-seq
MIRT2473414	hsa-miR-4722-5p	CLIP-seq
MIRT2473415	hsa-miR-4796-3p	CLIP-seq
MIRT2473416	hsa-miR-519d	CLIP-seq
MIRT779030	hsa-miR-526b	CLIP-seq
MIRT2473417	hsa-miR-548ah	CLIP-seq
MIRT2473418	hsa-miR-581	CLIP-seq
MIRT2473419	hsa-miR-583	CLIP-seq
MIRT779000	hsa-miR-660	CLIP-seq
MIRT2473420	hsa-miR-760	CLIP-seq
MIRT2473421	hsa-miR-93	CLIP-seq

Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000922	Component	Spindle pole	IDA	30967659
GO:0000922	Component	Spindle pole	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002753	Process	Cytoplasmic pattern recognition receptor signaling pathway	IBA
GO:0002753	Process	Cytoplasmic pattern recognition receptor signaling pathway	IDA	28222186, 28877472, 30111836
GO:0002753	Process	Cytoplasmic pattern recognition receptor signaling pathway	TAS
GO:0004674	Function	Protein serine/threonine kinase activity	EXP	30111836
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	30111836
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	30111836, 36931259
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	30967659
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IDA	30111836
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IBA
GO:0005929	Component	Cilium	IDA	30967659
GO:0005929	Component	Cilium	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0036064	Component	Ciliary basal body	IDA
GO:0042995	Component	Cell projection	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	28222186, 28877472, 30111836
GO:0045087	Process	Innate immune response	IBA
GO:0045087	Process	Innate immune response	IDA	28222186, 28877472, 30111836
GO:0045087	Process	Innate immune response	IEA
GO:0048029	Function	Monosaccharide binding	IBA
GO:0048029	Function	Monosaccharide binding	IPI	30111836
GO:0060271	Process	Cilium assembly	IMP	30967659
GO:0106310	Function	Protein serine kinase activity	IEA

MIM	HGNC	e!Ensembl
607347	20917	ENSG00000073331

Q96QP1

Protein name

Alpha-protein kinase 1 (EC 2.7.11.1) (Chromosome 4 kinase) (Lymphocyte alpha-protein kinase)

Protein 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:282221

PDB

5Z2C

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02816	Alpha_kinase	1042 → 1229	Alpha-kinase family	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in liver. Expressed in the optic nerve and retinal pigmented epithelium. Lower expression is observed in the macula and extramacular retina (PubMed:30967659). {ECO:0000269|PubMed:10819331, ECO:0000269|PubMed:30967659}.

Sequence

MNNQKVVAVLLQECKQVLDQLLLEAPDVSEEDKSEDQRCRALLPSELRTLIQEAKEMKWP
FVPEKWQYKQAVGPEDKTNLKDVIGAGLQQLLASLRASILARDCAAAAAIVFLVDRFLYG
LDVSGKLLQVAKGLHKLQPATPIAPQVVIRQARISVNSGKLLKAEYILSSLISNNGATGT
WLYRNESDKVLVQSVCIQIRGQILQKLGMWYEAAELIWASIVGYLALPQPDKKGLSTSLG
ILADIFVSMSKNDYEKFKNNPQINLSLLKEFDHHLLSAAEACKLAAAFSAYTPLFVLTAV
NIRGTCLLSYSSSNDCPPELKNLHLCEAKEAFEIGLLTKRDDEPVTGKQELHSFVKAAFG
LTTVHRRLHGETGTVHAASQLCKEAMGKLYNFSTSSRSQDREALSQEVMSVIAQVKEHLQ
VQSFSNVDDRSYVPESFECRLDKLILHGQGDFQKILDTYSQHHTSVCEVFESDCGNNKNE
QKDAKTGVCITALKTEIKNIDTVSTTQEKPHCQRDTGISSSLMGKNVQRELRRGGRRNWT
HSDAFRVSLDQDVETETEPSDYSNGEGAVFNKSLSGSQTSSAWSNLSGFSSSASWEEVNY
HVDDRSARKEPGKEHLVDTQCSTALSEELENDREGRAMHSLHSQLHDLSLQEPNNDNLEP
SQNQPQQQMPLTPFSPHNTPGIFLAPGAGLLEGAPEGIQEVRNMGPRNTSAHSRPSYRSA
SWSSDSGRPKNMGTHPSVQKEEAFEIIVEFPETNCDVKDRQGKEQGEEISERGAGPTFKA
SPSWVDPEGETAESTEDAPLDFHRVLHNSLGNISMLPCSSFTPNWPVQNPDSRKSGGPVA
EQGIDPDASTVDEEGQLLDSMDVPCTNGHGSHRLCILRQPPGQRAETPNSSVSGNILFPV
LSEDCTTTEEGNQPGNMLNCSQNSSSSSVWWLKSPAFSSGSSEGDSPWSYLNSSGSSWVS
LPGKMRKEILEARTLQPDDFEKLLAGVRHDWLFQRLENTGVFKPSQLHRAHSALLLKYSK
KSELWTAQETIVYLGDYLTVKKKGRQRNAFWVHHLHQEEILGRYVGKDYKEQKGLWHHFT
DVERQMTAQHYVTEFNKRLYEQNIPTQIFYIPSTILLILEDKTIKGCISVEPYILGEFVK
LSNNTKVVKTEYKATEYGLAYGHFSYEFSNHRDVVVDLQGWVTGNGKGLIYLTDPQIHSV
DQKVFTTNFGKRGIFYFFNNQHVECNEICHRLSLTRPSMEKPCT

Sequence length

1244

Interactions

View interactions

	Reactome
			Alpha-protein kinase 1 signaling pathway

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ALPK1-related disorder	Pathogenic	rs1052954321	RCV003947961
Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome	Pathogenic	rs2476496611, rs1052954321	RCV003325431 RCV001263103

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Benign	rs76049625	RCV005926376
Cervical cancer	Benign; Likely benign	rs55964656	RCV005926356
Colon adenocarcinoma	Benign; Likely benign	rs55964656	RCV005926353
Gastric cancer	Benign; Conflicting classifications of pathogenicity	rs201681617, rs76049625, rs200749150	RCV005930629 RCV005926377 RCV005932688
Lung cancer	Uncertain significance	rs377063660	RCV005932758
Malignant tumor of esophagus	Benign; Likely benign	rs55964656	RCV005926355
Malignant tumor of urinary bladder	Benign; Likely benign	rs55964656	RCV005926354
Melanoma	Benign; Likely benign	rs55964656	RCV005926360
Ovarian cancer	Benign	rs34815402	RCV005926406
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs55964656	RCV005926359
Sarcoma	Benign; Likely benign; Uncertain significance	rs55964656, rs772239630	RCV005926358 RCV005935016
Uterine carcinosarcoma	Uncertain significance	rs776572834	RCV005936607
Uterine corpus endometrial carcinoma	Benign	rs34815402	RCV005926407
Uveal melanoma	Benign; Likely benign	rs55964656	RCV005926357

Show/Hide Text Mining Associations (29)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acrospiroma	Associate	31101826, 38060563
Arthritis Gouty	Associate	27169898
Bacterial Infections	Associate	33037203
Carcinogenesis	Associate	27283888
Chordoma	Associate	32960500
Colorectal Neoplasms	Associate	27283888, 35220887
Drug Related Side Effects and Adverse Reactions	Associate	7991991
Genetic Diseases Inborn	Associate	30967659
Gout	Associate	23569188, 25326865, 27169898, 35505381
Hyperuricemia	Associate	35505381
Hypohidrosis	Associate	38060563
Inflammation	Associate	27169898, 27283888, 35505381
Kidney Diseases	Associate	30967659
Leukemia T Cell	Associate	6331930
Lung Neoplasms	Associate	27283888
Lymphatic Metastasis	Associate	30315765
Lymphokine Deficiency	Stimulate	2109997
Migraine Disorders	Associate	38060563
Mouth Neoplasms	Associate	30315765
Neoplasm Metastasis	Inhibit	2109997
Neoplasms	Inhibit	2109997, 30315765
Neoplasms	Associate	27283888, 7632957, 7991991
Optic Nerve Hypoplasia	Associate	38060563
Prostatic Neoplasms	Associate	21880074
Renal Insufficiency Chronic	Associate	25813695
Retinal Dystrophies	Associate	38060563
Splenomegaly	Associate	38060563
Squamous Cell Carcinoma of Head and Neck	Associate	30315765
Syndrome	Associate	30967659, 36332842, 38060563

ALPK1 (alpha kinase 1)