GASK1B

Summary

GASK1B (golgi associated kinase 1B, HGNC:25312) is a protein-coding gene on chromosome 4q32.1, encoding Golgi-associated kinase 1B (Q6UWH4).

Located in Golgi apparatus.

Source: NCBI Gene 51313 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 105 total
• MANE Select transcript: NM_001128424

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25312
Approved symbol	GASK1B
Name	golgi associated kinase 1B
Location	4q32.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ38155, DKFZp434L142, ENED
Ensembl gene	ENSG00000164125
Ensembl biotype	protein_coding
Entrez	51313

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 15 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000296530, ENST00000393807, ENST00000585682, ENST00000587787, ENST00000589306, ENST00000590648, ENST00000592057, ENST00000592586, ENST00000593260, ENST00000895447, ENST00000895448, ENST00000895449, ENST00000959841, ENST00000959842, ENST00000959843, ENST00000959844

RefSeq mRNA: 3 — MANE Select: NM_001128424 NM_001031700, NM_001128424, NM_016613

CCDS: CCDS34087, CCDS3798

Canonical transcript exons

ENST00000585682 — 5 exons

Exon	Start	End
ENSE00001354267	158170466	158171599
ENSE00002829339	158124474	158127614
ENSE00003523021	158155611	158155825
ENSE00003785999	158130786	158131012
ENSE00003905877	158172868	158173025

Expression profiles

Bgee: expression breadth ubiquitous, 267 present calls, max score 98.62.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.6162 / max 351.6839, expressed in 1367 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
54595	5.6442	1153
54588	4.9130	802
54601	4.0903	718
54602	1.2939	488
54600	0.6874	276
54596	0.4720	301
54597	0.1380	67
54599	0.1083	52
54598	0.0957	36
54586	0.0868	44

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mammary duct	UBERON:0001765	98.62	gold quality
adrenal tissue	UBERON:0018303	98.49	gold quality
skin of hip	UBERON:0001554	98.35	gold quality
trigeminal ganglion	UBERON:0001675	98.18	gold quality
adrenal cortex	UBERON:0001235	97.93	gold quality
right adrenal gland cortex	UBERON:0035827	97.85	gold quality
left adrenal gland cortex	UBERON:0035825	97.82	gold quality
right adrenal gland	UBERON:0001233	97.79	gold quality
endothelial cell	CL:0000115	97.76	gold quality
left adrenal gland	UBERON:0001234	97.76	gold quality
dorsal root ganglion	UBERON:0000044	97.59	gold quality
adrenal gland	UBERON:0002369	97.33	gold quality
visceral pleura	UBERON:0002401	96.95	gold quality
parietal pleura	UBERON:0002400	96.86	gold quality
heart right ventricle	UBERON:0002080	96.81	gold quality
cauda epididymis	UBERON:0004360	96.66	gold quality
endometrium	UBERON:0001295	96.48	gold quality
monocyte	CL:0000576	96.26	gold quality
mononuclear cell	CL:0000842	95.95	gold quality
descending thoracic aorta	UBERON:0002345	95.72	gold quality
thoracic aorta	UBERON:0001515	95.62	gold quality
ascending aorta	UBERON:0001496	95.54	gold quality
leukocyte	CL:0000738	95.50	gold quality
superficial temporal artery	UBERON:0001614	95.24	gold quality
pericardium	UBERON:0002407	95.13	gold quality
ovary	UBERON:0000992	95.07	gold quality
left ovary	UBERON:0002119	95.04	gold quality
right ovary	UBERON:0002118	94.94	gold quality
pleura	UBERON:0000977	94.86	gold quality
seminal vesicle	UBERON:0000998	94.79	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-75688	yes	2028.70
E-ANND-3	yes	16.08
E-CURD-112	yes	14.11

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

154 targeting GASK1B, 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-126-5P	100.00	72.71	3180
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-3605-5P	99.96	67.12	932
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

Literature-anchored findings (GeneRIF, showing 1)

• Data show that matrix metalloproteinase 1 (MMP-1) as a critical downstream target of golgi associated kinase 1B (FAM198B) and implicate FAM198B as a potential tumor suppressor and to be a prognostic marker in lung adenocarcinoma. (PMID:29217529)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	gask1b	ENSDARG00000077054
mus_musculus	Gask1b	ENSMUSG00000027955
rattus_norvegicus	Gask1b	ENSRNOG00000010183

Paralogs (1): GASK1A (ENSG00000144649)

Protein

Protein identifiers

Golgi-associated kinase 1B — Q6UWH4 (reviewed: Q6UWH4)

Alternative names: Expressed in nerve and epithelium during development, Protein FAM198B

All UniProt accessions (5): A0A0G2JLI7, Q6UWH4, K7EK71, K7EN70, K7ESC5

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Golgi apparatus membrane.

Similarity. Belongs to the GASK family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q6UWH4-1	1	yes
Q6UWH4-2	2
Q6UWH4-3	3

RefSeq proteins (3): NP_001026870, NP_001121896, NP_057697 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029207	FAM198	Family

Pfam: PF15051

UniProt features (11 total): splice variant 3, topological domain 2, chain 1, sequence variant 1, transmembrane region 1, region of interest 1, compositionally biased region 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6UWH4-F1	72.61	0.46

Functional residue map

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

Glycosylation sites (1): 289

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 215 (showing top): chr4q32, XU_GH1_AUTOCRINE_TARGETS_UP, GOZGIT_ESR1_TARGETS_DN, TGACCTY_ERR1_Q2, PICCALUGA_ANGIOIMMUNOBLASTIC_LYMPHOMA_UP, DOANE_RESPONSE_TO_ANDROGEN_DN, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, TGANTCA_AP1_C, DODD_NASOPHARYNGEAL_CARCINOMA_UP, VALK_AML_CLUSTER_5, AACTTT_UNKNOWN, COATES_MACROPHAGE_M1_VS_M2_DN, CCCNNGGGAR_OLF1_01, DANG_BOUND_BY_MYC, MASSARWEH_TAMOXIFEN_RESISTANCE_UP

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (4): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), endomembrane system (GO:0012505), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
Golgi apparatus	1
bounding membrane of organelle	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
vacuole	1
plasma membrane	1

Protein interactions and networks

STRING

692 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GASK1B	FAM20A	Q96MK3	515
GASK1B	FAM20B	O75063	468
GASK1B	DLEU7	Q6UYE1	449
GASK1B	LRRC3B	Q96PB8	445
GASK1B	DIP2C	Q9Y2E4	438
GASK1B	ANKS1B	Q7Z6G8	425
GASK1B	FJX1	Q86VR8	411
GASK1B	IRAG1	Q9Y6F6	410
GASK1B	DIAPH2	O60879	406
GASK1B	FAM20C	Q8IXL6	401
GASK1B	PHACTR1	Q9C0D0	398
GASK1B	SELENOS	Q9BQE4	397
GASK1B	DLGAP1	P78335	385
GASK1B	STOX1	Q6ZVD7	376
GASK1B	LYSMD2	Q8IV50	374

IntAct

6 interactions, top by confidence:

A	B	Type	Score
GASK1B	DAPK1	psi-mi:“MI:0407”(direct interaction)	0.440
GASK1B	EXD3	psi-mi:“MI:0915”(physical association)	0.400
CASP3	TMEM223	psi-mi:“MI:0914”(association)	0.350
FOS	TMEM223	psi-mi:“MI:0914”(association)	0.350

BioGRID (3): FAM198B (Reconstituted Complex), FAM198B (Affinity Capture-MS), EXD3 (Affinity Capture-MS)

ESM2 similar proteins: A2A699, A2BD09, A4IIT5, A5D7T4, A6QLD2, A8MVW0, O35764, O43278, O70624, O95502, O95897, P35054, P51693, Q03157, Q2PT31, Q3UPI1, Q3UZZ4, Q3V1G4, Q568Y7, Q594P2, Q5QQ37, Q66H86, Q68BL7, Q68BL8, Q6AYE5, Q6P7B4, Q6UWH4, Q6UWY5, Q6ZMI3, Q701R2, Q701R3, Q701R4, Q766D5, Q76KP1, Q80WL1, Q863A3, Q866N2, Q86VZ4, Q8BHP7, Q8BM13

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

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	93
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1117 predictions. Top by Δscore:

Variant	Effect	Δscore
4:158155606:CTTA:C	donor_loss	1.0000
4:158155607:TTACC:T	donor_loss	1.0000
4:158155608:TACCT:T	donor_loss	1.0000
4:158172863:CTCA:C	donor_loss	1.0000
4:158172865:CAC:C	donor_loss	1.0000
4:158172866:A:T	donor_loss	1.0000
4:158127613:ACCTG:A	acceptor_loss	0.9900
4:158127615:CTGAA:C	acceptor_loss	0.9900
4:158127616:T:G	acceptor_loss	0.9900
4:158130784:A:AC	donor_gain	0.9900
4:158130785:C:CC	donor_gain	0.9900
4:158130785:CT:C	donor_gain	0.9900
4:158130865:AATG:A	donor_gain	0.9900
4:158130868:G:A	donor_gain	0.9900
4:158155604:AACTT:A	donor_loss	0.9900
4:158155605:ACTTA:A	donor_loss	0.9900
4:158171494:A:T	acceptor_gain	0.9900
4:158155824:ATCTA:A	acceptor_loss	0.9800
4:158155825:TCTA:T	acceptor_loss	0.9800
4:158155826:C:CC	acceptor_gain	0.9800
4:158155826:C:T	acceptor_loss	0.9800
4:158155827:T:G	acceptor_loss	0.9800
4:158155836:A:T	acceptor_gain	0.9800
4:158171493:C:CT	acceptor_gain	0.9800
4:158171500:C:CT	acceptor_gain	0.9800
4:158171505:G:C	acceptor_gain	0.9800
4:158171600:C:CC	acceptor_gain	0.9800
4:158172866:A:AC	donor_gain	0.9800
4:158172867:C:CC	donor_gain	0.9800
4:158172867:CCTTA:C	donor_gain	0.9800

AlphaMissense

3385 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:158127527:C:A	W480C	0.999
4:158127527:C:G	W480C	0.999
4:158127529:A:G	W480R	0.998
4:158127529:A:T	W480R	0.998
4:158155646:A:G	W364R	0.998
4:158155646:A:T	W364R	0.998
4:158170733:A:G	W215R	0.998
4:158170733:A:T	W215R	0.998
4:158127540:T:A	D476V	0.997
4:158127541:C:G	D476H	0.997
4:158127545:A:C	F474L	0.997
4:158127545:A:T	F474L	0.997
4:158127547:A:G	F474L	0.997
4:158130977:G:C	F387L	0.997
4:158130977:G:T	F387L	0.997
4:158130979:A:G	F387L	0.997
4:158170531:A:G	L282P	0.997
4:158127540:T:G	D476A	0.996
4:158127561:A:G	L469P	0.996
4:158155644:C:A	W364C	0.996
4:158155644:C:G	W364C	0.996
4:158127470:T:A	R499S	0.995
4:158127470:T:G	R499S	0.995
4:158127553:A:G	S472P	0.995
4:158170536:G:C	F280L	0.995
4:158170536:G:T	F280L	0.995
4:158170538:A:G	F280L	0.995
4:158127471:C:A	R499I	0.994
4:158127528:C:G	W480S	0.994
4:158131002:C:G	R379P	0.994

dbSNP variants (sampled 300 via entrez): RS1000039515 (4:158173906 T>C), RS1000057714 (4:158129942 G>A), RS1000108088 (4:158129649 G>C), RS1000161623 (4:158125874 A>G), RS1000177518 (4:158160328 C>A), RS1000237073 (4:158136266 G>A), RS1000327816 (4:158166711 T>C), RS1000360529 (4:158142502 A>G), RS1000373475 (4:158142220 A>G), RS1000412178 (4:158174058 CCTCT>C), RS1000434675 (4:158172850 T>A,C), RS1000458186 (4:158146572 A>G), RS1000465274 (4:158166288 G>A), RS10005007 (4:158141737 G>A,C,T), RS1000526037 (4:158129307 C>A)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

62 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, increases methylation	6
Benzo(a)pyrene	decreases expression, increases expression	4
sodium arsenite	decreases expression, increases expression	3
Acetaminophen	decreases expression, increases expression	3
cobaltous chloride	decreases expression	2
(+)-JQ1 compound	decreases expression	2
Air Pollutants	decreases expression, increases abundance	2
Calcitriol	increases expression, affects cotreatment	2
Doxorubicin	decreases expression, increases expression	2
Estradiol	affects cotreatment, decreases expression, increases expression	2
Formaldehyde	increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Cyclosporine	decreases expression	2
Aflatoxin B1	affects expression, increases expression	2
sotorasib	affects cotreatment, decreases expression	1
bisphenol A	increases expression	1
trichostatin A	increases expression	1
3,4-dichloroaniline	decreases expression	1
butyraldehyde	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
hydroquinone	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases expression	1
mercuric bromide	affects cotreatment, increases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
avobenzone	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
tricetin	decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
MRK 003	decreases expression	1

Clinical trials (associated diseases)

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