GASK1A

Summary

GASK1A (golgi associated kinase 1A, HGNC:24485) is a protein-coding gene on chromosome 3p22.1, encoding Golgi-associated kinase 1A (Q9UFP1).

Located in intracellular membrane-bounded organelle.

Source: NCBI Gene 729085 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 104 total
• MANE Select transcript: NM_001129908

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24485
Approved symbol	GASK1A
Name	golgi associated kinase 1A
Location	3p22.1
Locus type	gene with protein product
Status	Approved
Aliases	DKFZP434B172
Ensembl gene	ENSG00000144649
Ensembl biotype	protein_coding
OMIM	620413
Entrez	729085

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 8 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000273146, ENST00000430121, ENST00000434206, ENST00000488863, ENST00000492161, ENST00000686436, ENST00000687218, ENST00000688831, ENST00000688935, ENST00000690675, ENST00000690717, ENST00000691621, ENST00000692251, ENST00000693686, ENST00000936163

RefSeq mRNA: 1 — MANE Select: NM_001129908 NM_001129908

CCDS: CCDS46808

Canonical transcript exons

ENST00000430121 — 5 exons

Exon	Start	End
ENSE00000966298	43055432	43055535
ENSE00001669251	43056176	43057715
ENSE00002203060	42979311	42979645
ENSE00003652966	43053521	43053643
ENSE00003686341	43032267	43033553

Expression profiles

Bgee: expression breadth ubiquitous, 170 present calls, max score 89.97.

FANTOM5 (CAGE): breadth broad, TPM avg 0.9062 / max 27.4273, expressed in 336 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
36300	0.8698	327
36301	0.0363	12

Top tissues by expression

254 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
tibia	UBERON:0000979	89.97	gold quality
left uterine tube	UBERON:0001303	85.83	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.65	gold quality
right uterine tube	UBERON:0001302	83.17	gold quality
body of uterus	UBERON:0009853	82.07	gold quality
right lobe of liver	UBERON:0001114	81.45	gold quality
endocervix	UBERON:0000458	81.21	gold quality
right ovary	UBERON:0002118	80.47	gold quality
tibial nerve	UBERON:0001323	80.17	gold quality
smooth muscle tissue	UBERON:0001135	79.82	gold quality
ectocervix	UBERON:0012249	79.08	gold quality
left ovary	UBERON:0002119	78.84	gold quality
gall bladder	UBERON:0002110	78.49	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	77.96	gold quality
mucosa of stomach	UBERON:0001199	77.71	gold quality
popliteal artery	UBERON:0002250	77.70	gold quality
tibial artery	UBERON:0007610	77.69	gold quality
aorta	UBERON:0000947	75.82	gold quality
fallopian tube	UBERON:0003889	75.52	gold quality
left coronary artery	UBERON:0001626	75.24	gold quality
ovary	UBERON:0000992	75.06	gold quality
lower esophagus muscularis layer	UBERON:0035833	75.05	gold quality
lower esophagus	UBERON:0013473	75.01	gold quality
sural nerve	UBERON:0015488	74.73	gold quality
omental fat pad	UBERON:0010414	73.96	gold quality
peritoneum	UBERON:0002358	73.91	gold quality
right coronary artery	UBERON:0001625	73.80	gold quality
ascending aorta	UBERON:0001496	73.79	gold quality
thoracic aorta	UBERON:0001515	73.79	gold quality
muscle layer of sigmoid colon	UBERON:0035805	73.46	gold quality

Single-cell (SCXA)

Detected in 50 experiment(s), a significant marker in 30.

Experiment	Marker?	Max mean expression
E-MTAB-10018	yes	21229.70
E-GEOD-124263	yes	9209.30
E-MTAB-6678	yes	8928.69
E-GEOD-150728	yes	8448.48
E-MTAB-8205	yes	7846.05
E-GEOD-134144	yes	7832.16
E-HCAD-31	yes	7634.34
E-GEOD-137537	yes	6167.51
E-GEOD-135922	yes	4807.94
E-MTAB-9067	yes	4478.57
E-MTAB-8381	yes	3699.75
E-HCAD-23	yes	3271.23
E-MTAB-8495	yes	3233.99
E-MTAB-5061	yes	2942.88
E-MTAB-8060	yes	2916.43

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

90 targeting GASK1A, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548H-5P	99.94	71.24	3488
HSA-MIR-548I	99.94	71.25	3481
HSA-MIR-548J-5P	99.94	71.14	3489
HSA-MIR-548O-5P	99.94	71.24	3488
HSA-MIR-548W	99.94	71.24	3488
HSA-MIR-548Y	99.94	71.28	3514
HSA-MIR-4648	99.91	67.00	710
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-6752-3P	99.72	66.71	1587
HSA-MIR-4470	99.66	69.35	1767

Literature-anchored findings (GeneRIF, showing 1)

• Results find that in the male newborns whose mother had preconception folic acid (FA) supplementation, five sites within FAM198A had a reduced methylation than appropriate for gestational age controls. (PMID:31596135)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	gask1a	ENSDARG00000076862
mus_musculus	Gask1a	ENSMUSG00000038233
rattus_norvegicus	Gask1a	ENSRNOG00000025676

Paralogs (1): GASK1B (ENSG00000164125)

Protein

Protein identifiers

Golgi-associated kinase 1A — Q9UFP1 (reviewed: Q9UFP1)

Alternative names: Protein FAM198A

All UniProt accessions (7): Q9UFP1, A0A8I5KP10, A0A8I5KR34, A0A8I5KS46, A0A8I5KS87, A0A8I5KXC0, F5H4W4

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted. Endoplasmic reticulum. Golgi apparatus. Membrane. Caveola.

Tissue specificity. Expressed in skin, lung and colon (at protein level).

Post-translational modifications. O-glycosylated with core 1 or possibly core 8 glycans. Proteolytically cleaved. Cleaved at Arg-120 and Arg-437 leading to a processed mature product of 35 kDa. The cleavage takes place in the Golgi apparatus.

Similarity. Belongs to the GASK family.

RefSeq proteins (1): NP_001123380* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029207	FAM198	Family

Pfam: PF15051

UniProt features (16 total): sequence variant 2, mutagenesis site 2, sequence conflict 2, propeptide 2, region of interest 2, site 2, signal peptide 1, chain 1, compositionally biased region 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UFP1-F1	69.10	0.48

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (2): 119–120 (cleavage); 436–437 (cleavage)

Glycosylation sites (1): 566

Mutagenesis-validated functional residues (2):

Position	Phenotype
119–120	abolishes proteolytic cleavage; when associated with a-437.
437	abolishes proteolytic cleavage; when associated with 119-a-a-120.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 46 (showing top): chr3p22, GOCC_PLASMA_MEMBRANE_REGION, GOCC_PLASMA_MEMBRANE_RAFT, BOCHKIS_FOXA2_TARGETS, GOCC_CAVEOLA, GSE14386_UNTREATED_VS_IFNA_TREATED_ACT_PBMC_MS_PATIENT_UP, ZNF618_TARGET_GENES, ZSCAN30_TARGET_GENES, MIR8485, MIR559, MIR548Y, MIR548BB_5P, MIR548AR_5P, MIR548AD_5P_MIR548AE_5P_MIR548AY_5P_MIR548B_5P_MIR548D_5P, MIR548AK_MIR548AM_5P_MIR548C_5P_MIR548H_5P_MIR548O_5P_MIR548AU_5P

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (6): extracellular region (GO:0005576), endoplasmic reticulum (GO:0005783), Golgi apparatus (GO:0005794), caveola (GO:0005901), endomembrane system (GO:0012505), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cytoplasm	2
endomembrane system	2
intracellular membrane-bounded organelle	2
plasma membrane raft	1
vacuole	1
plasma membrane	1

Protein interactions and networks

STRING

206 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GASK1A	FAM20B	O75063	714
GASK1A	FAM20C	Q8IXL6	709
GASK1A	FJX1	Q86VR8	683
GASK1A	FAM20A	Q96MK3	657
GASK1A	RNF225	M0QZC1	607
GASK1A	ZNF662	Q6ZS27	595
GASK1A	ARMC7	Q9H6L4	506
GASK1A	OR4D6	Q8NGJ1	474
GASK1A	HEXD	Q8WVB3	449
GASK1A	ALG10B	Q5I7T1	418
GASK1A	LSG1	Q9H089	414
GASK1A	PKDCC	Q504Y2	404
GASK1A	POMK	Q9H5K3	399
GASK1A	DIPK2B	Q9H7Y0	357
GASK1A	DEFB108B	Q8NET1	353

IntAct

9 interactions, top by confidence:

A	B	Type	Score
IFNE	FAT1	psi-mi:“MI:0914”(association)	0.530
LYPD4	DPYSL4	psi-mi:“MI:0914”(association)	0.350
LYZL1	MANBA	psi-mi:“MI:0914”(association)	0.350
IFNE	NAGLU	psi-mi:“MI:0914”(association)	0.350
CLEC12B	GXYLT2	psi-mi:“MI:0914”(association)	0.350
LLCFC1	POTEF	psi-mi:“MI:0914”(association)	0.350
SCGB2A2	RTL8C	psi-mi:“MI:0914”(association)	0.350
CEACAM8	PRRT4	psi-mi:“MI:0914”(association)	0.350

BioGRID (8): FAM198A (Affinity Capture-MS), FAM198A (Affinity Capture-MS), FAM198A (Affinity Capture-MS), FAM198A (Affinity Capture-MS), FAM198A (Affinity Capture-MS), FAM198A (Affinity Capture-MS), FAM198A (Affinity Capture-MS), FAM198A (Affinity Capture-MS)

ESM2 similar proteins: A2A699, A2BD09, A5D7T4, A8MVW0, B0BN44, O77681, O88829, P0CG36, P0CG37, P15907, P51693, P59383, P61132, P70277, P97325, Q03157, Q07105, Q11203, Q3UPI1, Q3UY90, Q5K027, Q5QQ37, Q64685, Q66NC0, Q68BL7, Q6P7B4, Q6UWH4, Q701R2, Q701R3, Q701R4, Q70D51, Q766D5, Q76K27, Q76KP1, Q80WV3, Q866Y3, Q86VZ4, Q8BHP7, Q8CB67, Q8VCS0

Diamond homologs: P86275, Q3UPI1, Q3UY90, Q6P7B4, Q6UWH4, Q9UFP1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

104 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	87
Likely benign	7
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1163 predictions. Top by Δscore:

Variant	Effect	Δscore
3:43053639:TCCTG:T	donor_gain	1.0000
3:43053640:CCTG:C	donor_gain	1.0000
3:43053641:CTG:C	donor_gain	1.0000
3:43053642:TG:T	donor_gain	1.0000
3:43053643:GG:G	donor_gain	1.0000
3:43053644:G:GG	donor_gain	1.0000
3:43055417:A:AG	acceptor_gain	1.0000
3:43055428:T:A	acceptor_gain	1.0000
3:43055504:C:G	donor_gain	1.0000
3:43055522:G:GT	donor_gain	1.0000
3:43055525:G:GT	donor_gain	1.0000
3:43055531:GATGG:G	donor_gain	1.0000
3:43055532:A:G	donor_gain	1.0000
3:43055534:GG:G	donor_gain	1.0000
3:43055535:GG:G	donor_gain	1.0000
3:43056146:T:A	acceptor_gain	1.0000
3:43056151:C:CA	acceptor_gain	1.0000
3:42979642:CATGG:C	donor_loss	0.9900
3:42979643:ATGG:A	donor_loss	0.9900
3:42979644:TGG:T	donor_loss	0.9900
3:42979645:GGTAG:G	donor_loss	0.9900
3:42979646:G:GG	donor_gain	0.9900
3:42979646:GT:G	donor_loss	0.9900
3:42979659:G:T	donor_gain	0.9900
3:42980364:A:T	donor_gain	0.9900
3:43033549:TGCAG:T	donor_loss	0.9900
3:43033551:CAG:C	donor_loss	0.9900
3:43033552:AG:A	donor_loss	0.9900
3:43033553:GG:G	donor_loss	0.9900
3:43033554:GTAG:G	donor_loss	0.9900

AlphaMissense

3720 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:43033226:G:C	K321N	0.994
3:43033226:G:T	K321N	0.994
3:43033520:G:C	W419C	0.992
3:43033520:G:T	W419C	0.992
3:43033290:A:C	S343R	0.990
3:43033292:C:A	S343R	0.990
3:43033292:C:G	S343R	0.990
3:43033518:T:A	W419R	0.990
3:43033518:T:C	W419R	0.990
3:43053554:T:C	F442L	0.989
3:43053556:C:A	F442L	0.989
3:43053556:C:G	F442L	0.989
3:43033439:G:C	W392C	0.988
3:43033439:G:T	W392C	0.988
3:43053530:C:A	R434S	0.988
3:43053635:C:G	H469D	0.988
3:43033257:T:C	F332L	0.987
3:43033259:C:A	F332L	0.987
3:43033259:C:G	F332L	0.987
3:43033542:T:C	F427L	0.987
3:43033544:C:A	F427L	0.987
3:43033544:C:G	F427L	0.987
3:43033540:A:T	D426V	0.986
3:43053637:C:A	H469Q	0.986
3:43053637:C:G	H469Q	0.986
3:43055473:C:A	N485K	0.986
3:43055473:C:G	N485K	0.986
3:43033446:T:G	Y395D	0.985
3:43053534:T:C	L435S	0.984
3:43053547:C:G	C439W	0.984

dbSNP variants (sampled 300 via entrez): RS1000007223 (3:43052494 G>A), RS1000023640 (3:42988713 C>T), RS1000039735 (3:43041516 A>G), RS1000060161 (3:42989244 A>G), RS1000134447 (3:43016568 G>A,T), RS1000144877 (3:42999309 G>A), RS1000168829 (3:42999515 A>T), RS1000215781 (3:43029997 T>C), RS1000259805 (3:43048565 A>C), RS1000265821 (3:43045717 C>T), RS1000339329 (3:43002118 C>T), RS1000349154 (3:43054964 G>A), RS1000446367 (3:43006481 A>G), RS1000453721 (3:42986059 GC>G), RS1000481496 (3:43054706 G>C)

Disease associations

OMIM: gene MIM:620413 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST001762_774	Obesity-related traits	2.000000e-07
GCST001762_789	Obesity-related traits	2.000000e-07
GCST002595_14	Clozapine-induced agranulocytosis	3.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005188	CCL11 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	3
entinostat	decreases expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Aflatoxin B1	decreases methylation, increases methylation	2
Cadmium Chloride	increases expression	2
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
dorsomorphin	affects cotreatment, decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation	1
Lipopolysaccharides	decreases expression, affects response to substance, increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Triclosan	increases expression	1
Cyclosporine	increases methylation	1
Okadaic Acid	decreases expression	1
Copper Sulfate	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.