GOLM1

Summary

GOLM1 (golgi membrane protein 1, HGNC:15451) is a protein-coding gene on chromosome 9q21.33, encoding Golgi membrane protein 1 (Q8NBJ4). Unknown.

The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a type II Golgi transmembrane protein. It processes proteins synthesized in the rough endoplasmic reticulum and assists in the transport of protein cargo through the Golgi apparatus. The expression of this gene has been observed to be upregulated in response to viral infection. Alternatively spliced transcript variants encoding the same protein have been described for this gene.

Source: NCBI Gene 51280 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 99 total
• MANE Select transcript: NM_016548

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15451
Approved symbol	GOLM1
Name	golgi membrane protein 1
Location	9q21.33
Locus type	gene with protein product
Status	Approved
Aliases	GP73, FLJ23608, bA379P1.3
Ensembl gene	ENSG00000135052
Ensembl biotype	protein_coding
OMIM	606804
Entrez	51280

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 18 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000257504, ENST00000388711, ENST00000388712, ENST00000464314, ENST00000466178, ENST00000470762, ENST00000472919, ENST00000486130, ENST00000910228, ENST00000910229, ENST00000910230, ENST00000910231, ENST00000910232, ENST00000910233, ENST00000910234, ENST00000910235, ENST00000910236, ENST00000910237, ENST00000936265, ENST00000936266, ENST00000944326, ENST00000944327

RefSeq mRNA: 2 — MANE Select: NM_016548 NM_016548, NM_177937

CCDS: CCDS35054

Canonical transcript exons

ENST00000388712 — 10 exons

Exon	Start	End
ENSE00000982987	86035368	86035625
ENSE00000982992	86079192	86079341
ENSE00001025602	86033282	86033395
ENSE00001469184	86099411	86099558
ENSE00001469186	86026146	86027893
ENSE00003497136	86077412	86077591
ENSE00003518805	86046470	86046572
ENSE00003594494	86036348	86036507
ENSE00003601168	86040739	86040868
ENSE00003787638	86052537	86052591

Expression profiles

Bgee: expression breadth ubiquitous, 268 present calls, max score 99.07.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 31.2394 / max 339.8698, expressed in 1640 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
101197	26.4961	1626
101199	2.8193	1028
101201	0.8584	539
101200	0.7248	449
101195	0.1933	61
101198	0.1384	50
101196	0.0091	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
palpebral conjunctiva	UBERON:0001812	99.07	gold quality
ventricular zone	UBERON:0003053	98.92	gold quality
colonic mucosa	UBERON:0000317	98.81	gold quality
mucosa of sigmoid colon	UBERON:0004993	98.74	gold quality
right adrenal gland cortex	UBERON:0035827	98.58	gold quality
rectum	UBERON:0001052	98.55	gold quality
gall bladder	UBERON:0002110	98.55	gold quality
tendon of biceps brachii	UBERON:0008188	98.21	gold quality
left adrenal gland cortex	UBERON:0035825	98.21	gold quality
left adrenal gland	UBERON:0001234	98.19	gold quality
ganglionic eminence	UBERON:0004023	98.12	gold quality
mucosa of transverse colon	UBERON:0004991	98.02	gold quality
pylorus	UBERON:0001166	97.97	gold quality
nasal cavity epithelium	UBERON:0005384	97.94	gold quality
adrenal cortex	UBERON:0001235	97.85	gold quality
right adrenal gland	UBERON:0001233	97.81	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	97.62	gold quality
eye	UBERON:0000970	97.55	gold quality
bronchial epithelial cell	CL:0002328	97.53	gold quality
adrenal gland	UBERON:0002369	97.31	gold quality
cortical plate	UBERON:0005343	97.21	gold quality
epithelium of bronchus	UBERON:0002031	97.13	gold quality
bronchus	UBERON:0002185	97.10	gold quality
nasal cavity mucosa	UBERON:0001826	97.03	gold quality
duodenum	UBERON:0002114	96.93	gold quality
trachea	UBERON:0003126	96.47	gold quality
islet of Langerhans	UBERON:0000006	96.34	gold quality
anterior cingulate cortex	UBERON:0009835	96.19	gold quality
cingulate cortex	UBERON:0003027	96.12	gold quality
cranial nerve II	UBERON:0000941	95.92	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-CURD-114	yes	55.32
E-GEOD-125970	yes	47.25
E-MTAB-5061	yes	25.59
E-HCAD-1	yes	8.71
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

81 targeting GOLM1, 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-1277-5P	100.00	73.95	5056
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-219A-5P	99.91	73.36	735
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-4782-3P	99.88	73.31	735
HSA-MIR-6766-3P	99.88	73.38	732
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-320A-3P	99.77	69.73	2107
HSA-MIR-320B	99.77	69.73	2107
HSA-MIR-320C	99.77	69.73	2107
HSA-MIR-320D	99.77	69.73	2107

Literature-anchored findings (GeneRIF, showing 40)

• increased expression of GP73 in hepatocytes appears to be a general feature of advanced liver disease, and may be regulated via distinct pathways that involve hepatotropic viruses or cytokines. (PMID:12029628)
• GP73 as a novel adenovirus-induced cellular protein whose expression is regulated through the CID of the E1A protein (PMID:12359426)
• Endosomal trafficking of GP73 allows for proprotein convertase-mediated cleavage resulting in GP73 secretion, and provides a molecular mechanism for its presence as a serum biomarker for hepatocellular carcinoma. (PMID:17662025)
• Detailed analysis of the glycosylation patterns of GP73 from hepatocellular carcinoma (PMID:18004786)
• Golgi apparatus in prostate cancer cells differs from the normal Golgi by elevated levels of two molecules, GOLPH2 and MYO6. (PMID:18543251)
• Upregulation of GOLPH2 protein expression is associated with prostate cancer. (PMID:18781151)
• GOLM1 was up-regulated in localized prostate cancer; GOLM1 immunoreactivity was detected in supernatants of prostate cell lines & urine of prostate cancer patients; data suggest GOLM1 as a potential biomarker for clinically localized prostate cancer (PMID:18953438)
• Serum GP73 concentration in patients with liver disease was three-fold higher than in healthy individuals. (PMID:19008260)
• highly expressed in tissues of hepatocellular carcinomas and bile duct carcinomas (PMID:19291786)
• GP73 is a sensitive and specific tumor marker for diagnosing hepatitis B-related hepatocellular carcinoma in Asians. (PMID:19399652)
• The level of serum Golph2 is significantly higher in patients with hepatocellular carcinoma and other liver diseases than that in healthy controls. (PMID:19403029)
• Increased hepatocyte GP73 expression is more commonly a feature of hepatic than neurologic Wilson disease, and is triggered in response to inflammation, fibrosis, and dysplasia, rather than copper overload. (PMID:19596473)
• GOLPH2 gene does not contribute to risk of disease in this study sample of 2470 individuals from Spain (PMID:19749441)
• Significantly elevated GOLPH2 expression was observed in adenocarcinoma tumor tissues. The levels of sGOLPH2 were about 30% higher in lung cancer patients compared with healthy individuals. (PMID:20501332)
• Prefrontal cortex atrophy diagnosed in Alzheimer disease patients could be a risk factor for the GOLM1 GG genotype and expression of cognitive deficits in Alzheimer’s disease. (PMID:20570408)
• This study for the first time finds that the GOLPH2 modifies the ApoE[varepsilon]4-associated risk of Alzheimer’s disease. (PMID:20592574)
• The interaction between GOLPH2 and secretory CLU was confirmed intracellularly and extracellularly. (PMID:20842452)
• A higher level of GP73 can be found in the serum of patients with hepatocellular carcinoma than those without. (PMID:21223806)
• Significant overexpression of GP73 at both protein and mRNA levels along with overexpression of GP73 protein is associated with aggressive behavior of HCC, but not overall patient survival. (PMID:21443671)
• This is the first demonstration of GP73 regulation through overexpression of a glycosyltransferase, which may lead to Golgi stress. (PMID:21503570)
• The GP73 value in hepatitis B e antigen (HBeAg)-positive CHB group, HBeAg-negative CHB group, liver fibrosis group and HCC group was significantly higher (p<0.001) than that in healthy controls. (PMID:21663469)
• Data show that patients who had high levels GP73 post treatment all had re-occurrence within a 5 year period. (PMID:21694465)
• The structural determinants for Golgi localization was investigated using a panel of GOLPH2 truncation mutants. (PMID:22140547)
• results support the view that single-nucleotide polymorphisms in GOLPH2 and in near gene 5’ region of CD33 are significantly associated with sporadic Alzheimer’s disease in the north Chinese Han population. (PMID:22167654)
• These results delineated regulatory regions and functional element in GOLPH2 promoter, elucidated adenoviral E1A stimulation mechanisms and provided insight into GOLPH2 functions. (PMID:22542941)
• conclude that the deletion of golph2 causes an increase in the expression of WT1, which may promote glomus formation and inhibit pronephric tubule differentiation (PMID:22719994)
• There was an association between levels of GP73 and OSM in serum from people with liver cirrhosis, there was not a statistically significant correlation in HCC, suggesting that the role of the cytokines in determining circulating levels may be complex. (PMID:23144154)
• GP73 may be a marker for diagnosing significant fibrosis in patients with chronic HBV infections, and may be a new contributor to fibrogensis. (PMID:23418424)
• GP73 content of liver cancer patients was significantly higher than the chronic hepatitis, cirrhosis patients and controls. (PMID:23627036)
• GP73 is down-regulated in gastric cancer and associated with tumor differentiation. (PMID:23742050)
• Overexpression of GOLM1 is associated with hepatocellular carcinoma. (PMID:23838921)
• GP73 is a potential marker for evaluating AIDS progression and antiretroviral therapy efficacy. (PMID:24068434)
• The usefulness of serum Transforming growth factor-beta1 (TGF-beta1), Glypican-3 (GPC3), and Golgi protein-73 (GP73) mRNAs as early biomarkers in HCC Egyptian patients, was investigated. (PMID:24186850)
• Data demonstrate that chimera GOLM1-MAK10 encodes a secreted fusion protein. Mechanistic studies reveal that GOLM1-MAK10 is likely derived from transcription read-through/splicing rather than being generated from a fusion gene. (PMID:24243830)
• Loss of the tumor-suppressive miR-143/145 cluster enhanced cancer cell migration and invasion in PCa through directly regulating GOLM1. (PMID:24284362)
• The expression levels of GOLPH2 and IL-12A were negatively correlated. (PMID:24289573)
• GP73 is involved in the regulation of epithelial-mesenchymal transformation and invasiveness of hepatocellular carcinoma. (PMID:24313979)
• Studied the serum levels of GP73 in patients with HBV-ACLF. Found concentrations of GP73 in patients with HBV-ACLF (285.3 +/- 128.5 ng/mL) were markedly higher than HCC patients (159.1 +/- 105.8 ng/mL),CHB patients (64.65 +/- 44.99 ng/mL),and healthy controls. (PMID:24560809)
• Serum GP73 were increased in patients with fatty liver disease. (PMID:24579464)
• The results demonstrate the critical function of GP73 in HCV secretion and provide new insights into the therapeutic design of antiviral strategies. (PMID:24608522)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	golm1	ENSDARG00000025858
mus_musculus	Golm1	ENSMUSG00000021556
rattus_norvegicus	Golm1	ENSRNOG00000018400

Paralogs (1): GOLM2 (ENSG00000166734)

Protein

Protein identifiers

Golgi membrane protein 1 — Q8NBJ4 (reviewed: Q8NBJ4)

Alternative names: Golgi membrane protein GP73, Golgi phosphoprotein 2

All UniProt accessions (5): B3KNK9, C9J941, C9JYM4, Q8NBJ4, F8WAT9

UniProt curated annotations — full annotation on UniProt →

Function. Unknown. Cellular response protein to viral infection.

Subunit / interactions. Interacts with DYM.

Subcellular location. Golgi apparatus. cis-Golgi network membrane.

Tissue specificity. Widely expressed. Highly expressed in colon, prostate, trachea and stomach. Expressed at lower level in testis, muscle, lymphoid tissues, white blood cells and spleen. Predominantly expressed by cells of the epithelial lineage. Expressed at low level in normal liver. Expression significantly increases in virus (HBV, HCV) infected liver. Expression does not increase in liver disease due to non-viral causes (alcohol-induced liver disease, autoimmune hepatitis). Increased expression in hepatocytes appears to be a general feature of advanced liver disease. In liver tissue from patients with adult giant-cell hepatitis (GCH), it is strongly expressed in hepatocytes-derived syncytial giant cells. Constitutively expressed by biliary epithelial cells but not by hepatocytes.

Post-translational modifications. Glycosylated. Phosphorylation sites are present in the extracellular medium.

Induction. Up-regulated in response to viral infection. Induced by the E1A adenoviral protein.

Similarity. Belongs to the GOLM family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8NBJ4-1	1	yes
Q8NBJ4-2	2

RefSeq proteins (2): NP_057632, NP_808800 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026139	GOLM1/CASC4	Family

UniProt features (22 total): compositionally biased region 7, modified residue 3, glycosylation site 3, topological domain 2, chain 1, splice variant 1, transmembrane region 1, sequence variant 1, sequence conflict 1, region of interest 1, coiled-coil region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8YBC	X-RAY DIFFRACTION	2.28

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NBJ4-F1	65.10	0.40

Functional residue map

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

Post-translational modifications (3): 1, 187, 309

Glycosylation sites (3): 109, 144, 398

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-381426	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275	Post-translational protein phosphorylation

MSigDB gene sets: 205 (showing top): CHANDRAN_METASTASIS_DN, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_REGULATION_OF_LIPID_METABOLIC_PROCESS, ONKEN_UVEAL_MELANOMA_UP, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM2, GOBP_NUCLEUS_ORGANIZATION, GOBP_LIPID_METABOLIC_PROCESS, CERVERA_SDHB_TARGETS_1_UP, GOCC_ENDOPLASMIC_RETICULUM_LUMEN, chr9q21, ZHENG_GLIOBLASTOMA_PLASTICITY_UP, SWEET_LUNG_CANCER_KRAS_UP, REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, KRIGE_RESPONSE_TO_TOSEDOSTAT_6HR_DN, TOYOTA_TARGETS_OF_MIR34B_AND_MIR34C

GO Biological Process (2): nucleus organization (GO:0006997), regulation of lipid metabolic process (GO:0019216)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (5): obsolete extracellular space (GO:0005615), endoplasmic reticulum lumen (GO:0005788), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Metabolism of proteins	1
Post-translational protein modification	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
organelle organization	1
lipid metabolic process	1
regulation of primary metabolic process	1
binding	1
endoplasmic reticulum	1
intracellular organelle lumen	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

836 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GOLM1	GOLPH3	Q9H4A6	793
GOLM1	GPC3	P51654	736
GOLM1	AFP	P02771	717
GOLM1	TRAF6	Q9Y4K3	621
GOLM1	NAA35	Q5VZE5	618
GOLM1	SPINK1	P00995	581
GOLM1	GOLIM4	O00461	545
GOLM1	CLU	P10909	522
GOLM1	AMACR	Q9UHK6	507
GOLM1	PMEL	P40967	488
GOLM1	FUCA2	Q9BTY2	480
GOLM1	F2	P00734	477
GOLM1	FUCA1	P04066	419
GOLM1	KLK3	P07288	375
GOLM1	SPP1	P10451	372

IntAct

305 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
SLC35B2	GOLM1	psi-mi:“MI:0915”(physical association)	0.670
GOLM1	SLC35B2	psi-mi:“MI:0915”(physical association)	0.670
GOLM1	EGFR	psi-mi:“MI:0915”(physical association)	0.640
GOLM1	EGFR	psi-mi:“MI:0403”(colocalization)	0.640
EGFR	GOLM1	psi-mi:“MI:0403”(colocalization)	0.640
EGFR	GOLM1	psi-mi:“MI:0915”(physical association)	0.640
GOLM1	EGFR	psi-mi:“MI:0914”(association)	0.640
GOLM1	EGFR	psi-mi:“MI:0407”(direct interaction)	0.640
DYM	GOLM1	psi-mi:“MI:0915”(physical association)	0.580
ANKRD46	GOLM1	psi-mi:“MI:0915”(physical association)	0.560
GET3	GOLM1	psi-mi:“MI:0915”(physical association)	0.560
NEU1	GOLM1	psi-mi:“MI:0915”(physical association)	0.560
FUT9	GOLM1	psi-mi:“MI:0915”(physical association)	0.560
TSG101	GOLM1	psi-mi:“MI:0915”(physical association)	0.560
TF	GOLM1	psi-mi:“MI:0915”(physical association)	0.560
GAST	GOLM1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (188): GOLM1 (Affinity Capture-MS), GOLM1 (Affinity Capture-MS), GOLM1 (Affinity Capture-MS), GOLM1 (Affinity Capture-MS), GOLM1 (Affinity Capture-MS), GOLM1 (Affinity Capture-MS), GOLM1 (Affinity Capture-MS), GOLM1 (Affinity Capture-MS), GOLM1 (Affinity Capture-MS), GOLM1 (Affinity Capture-MS), GOLM1 (Affinity Capture-MS), GOLM1 (Affinity Capture-MS), GOLM1 (Affinity Capture-MS), GOLM1 (Affinity Capture-MS), GOLM1 (Affinity Capture-MS)

ESM2 similar proteins: A2AM05, A2BDC9, A2VD12, A2VE10, A5D8S1, B1AJZ9, O00461, O75071, P04233, P04441, P07106, P10247, P24054, P70663, Q08D19, Q14515, Q32N32, Q4KLH6, Q4V9H3, Q5BJK8, Q5PQS2, Q5R5X4, Q5R6R3, Q5R8Y4, Q5R9L2, Q5T8D3, Q5TB80, Q5ZHQ6, Q5ZKQ5, Q5ZM60, Q640L3, Q6P2L7, Q6P4E1, Q6Y685, Q6ZQ06, Q70YC5, Q86TE4, Q8BG89, Q8BMK4, Q8BVV7

Diamond homologs: A2VE10, Q32N32, Q5R5X4, Q5ZKQ5, Q6P2L7, Q6P4E1, Q8NBJ4, Q91XA2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	54
Likely benign	7
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

2273 predictions. Top by Δscore:

Variant	Effect	Δscore
9:86033278:TTACC:T	donor_loss	1.0000
9:86033279:TACC:T	donor_loss	1.0000
9:86033280:A:AC	donor_gain	1.0000
9:86033281:C:CC	donor_gain	1.0000
9:86033281:CCAT:C	donor_gain	1.0000
9:86033391:TCTCC:T	acceptor_gain	1.0000
9:86033392:CTCC:C	acceptor_gain	1.0000
9:86033392:CTCCC:C	acceptor_gain	1.0000
9:86033393:TCC:T	acceptor_gain	1.0000
9:86033393:TCCC:T	acceptor_loss	1.0000
9:86033393:TCCCT:T	acceptor_gain	1.0000
9:86033394:CC:C	acceptor_gain	1.0000
9:86033394:CCC:C	acceptor_gain	1.0000
9:86033395:CC:C	acceptor_gain	1.0000
9:86033396:C:CC	acceptor_gain	1.0000
9:86033398:G:GC	acceptor_gain	1.0000
9:86033404:T:TC	acceptor_gain	1.0000
9:86035382:T:TA	donor_gain	1.0000
9:86040735:TTA:T	donor_loss	1.0000
9:86040738:CCT:C	donor_loss	1.0000
9:86040738:CCTG:C	donor_gain	1.0000
9:86046461:TGTAC:T	donor_loss	1.0000
9:86046462:GTAC:G	donor_loss	1.0000
9:86046463:TACT:T	donor_loss	1.0000
9:86046464:ACT:A	donor_loss	1.0000
9:86046465:CTC:C	donor_loss	1.0000
9:86046466:TCACA:T	donor_loss	1.0000
9:86046468:A:AC	donor_gain	1.0000
9:86046468:AC:A	donor_loss	1.0000
9:86046469:C:CT	donor_gain	1.0000

AlphaMissense

2652 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:86079251:A:G	C24R	0.995
9:86079236:C:G	G29R	0.994
9:86079235:C:T	G29D	0.991
9:86046470:A:G	L156P	0.989
9:86077511:G:C	F70L	0.989
9:86077511:G:T	F70L	0.989
9:86077513:A:G	F70L	0.989
9:86079241:A:T	V27D	0.989
9:86079253:G:T	A23D	0.989
9:86052542:A:G	L120P	0.987
9:86077555:C:G	A56P	0.987
9:86079262:G:T	A20D	0.987
9:86077523:C:A	K66N	0.986
9:86077523:C:G	K66N	0.986
9:86077500:A:G	L74P	0.985
9:86077552:C:G	A57P	0.985
9:86040861:A:G	C159R	0.984
9:86046557:A:G	L127P	0.984
9:86077488:C:G	R78P	0.984
9:86077512:A:G	F70S	0.984
9:86079265:G:T	A19D	0.984
9:86077512:A:C	F70C	0.983
9:86077575:A:G	L49P	0.983
9:86046494:A:G	L148P	0.982
9:86077549:C:G	A58P	0.982
9:86079196:A:G	L42P	0.982
9:86077479:A:G	L81P	0.980
9:86079228:G:C	N31K	0.980
9:86079228:G:T	N31K	0.980
9:86040859:G:C	C159W	0.979

dbSNP variants (sampled 300 via entrez): RS1000014808 (9:86070954 C>T), RS1000059582 (9:86072276 A>G), RS1000068250 (9:86057811 C>T), RS1000102316 (9:86029231 G>T), RS1000114713 (9:86052145 A>G), RS1000116942 (9:86036897 GCA>G,GCACA), RS1000238133 (9:86046832 C>T), RS1000250906 (9:86051893 A>G), RS1000297380 (9:86036642 A>G), RS1000302834 (9:86065964 C>T), RS1000353598 (9:86098850 G>T), RS1000382570 (9:86039861 G>A,C), RS1000384796 (9:86099057 C>T), RS1000391003 (9:86055206 G>C), RS1000401782 (9:86078182 T>C)

Disease associations

OMIM: gene MIM:606804 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST006585_1825	Blood protein levels	6.000000e-11
GCST007006_7	Logical memory (delayed recall) in normal cognition	2.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004874	memory performance

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	3
Benzo(a)pyrene	decreases methylation, increases expression	2
Estradiol	affects cotreatment, increases expression	2
Cyclosporine	increases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
bisphenol F	decreases expression, affects cotreatment	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
sodium arsenite	decreases expression	1
cobaltous chloride	decreases expression	1
butyraldehyde	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
LDN 193189	affects cotreatment, decreases expression	1
Azathioprine	increases expression	1
Calcitriol	increases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Ethyl Methanesulfonate	decreases expression	1
Formaldehyde	decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Ivermectin	decreases expression	1
Ketoconazole	decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Tetrachlorodibenzodioxin	affects cotreatment, increases expression, decreases expression	1
Dronabinol	increases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	affects expression	1
Tretinoin	decreases expression	1

Cellosaurus cell lines

3 cell lines: 2 cancer cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B2Y1	Abcam HEK293T GOLM1 KO	Transformed cell line	Female
CVCL_E1YB	HAP1 GOLM1 (-) 2	Cancer cell line	Male
CVCL_XP28	HAP1 GOLM1 (-) 1	Cancer cell line	Male

Clinical trials (associated diseases)

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