GOLT1A

Summary

GOLT1A (golgi transport 1A, HGNC:24766) is a protein-coding gene on chromosome 1q32.1, encoding Vesicle transport protein GOT1A (Q6ZVE7). May be involved in fusion of ER-derived transport vesicles with the Golgi complex.

Predicted to be involved in endoplasmic reticulum to Golgi vesicle-mediated transport. Located in Golgi apparatus subcompartment; endoplasmic reticulum; and nuclear envelope.

Source: NCBI Gene 127845 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 35 total
• MANE Select transcript: NM_198447

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24766
Approved symbol	GOLT1A
Name	golgi transport 1A
Location	1q32.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ42654, CGI-141, YMR292W, GOT1, MGC62027
Ensembl gene	ENSG00000174567
Ensembl biotype	protein_coding
OMIM	620633
Entrez	127845

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000308302, ENST00000475517, ENST00000874691, ENST00000936492

RefSeq mRNA: 1 — MANE Select: NM_198447 NM_198447

CCDS: CCDS1443

Canonical transcript exons

ENST00000308302 — 5 exons

Exon	Start	End
ENSE00001194911	204201633	204201811
ENSE00001194918	204202896	204202987
ENSE00001306005	204199195	204199258
ENSE00001373409	204198163	204198496
ENSE00001377126	204213882	204213988

Expression profiles

Bgee: expression breadth ubiquitous, 157 present calls, max score 98.16.

FANTOM5 (CAGE): breadth broad, TPM avg 1.4653 / max 137.9880, expressed in 351 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
16880	1.4653	351

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	98.16	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	95.96	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	95.57	gold quality
ileal mucosa	UBERON:0000331	95.30	gold quality
liver	UBERON:0002107	95.02	gold quality
jejunal mucosa	UBERON:0000399	92.26	gold quality
islet of Langerhans	UBERON:0000006	91.72	gold quality
adenohypophysis	UBERON:0002196	91.22	gold quality
pituitary gland	UBERON:0000007	91.14	gold quality
body of pancreas	UBERON:0001150	90.93	gold quality
mucosa of transverse colon	UBERON:0004991	89.65	gold quality
duodenum	UBERON:0002114	89.34	gold quality
pancreas	UBERON:0001264	88.89	gold quality
nucleus accumbens	UBERON:0001882	88.48	gold quality
small intestine Peyer’s patch	UBERON:0003454	84.05	gold quality
small intestine	UBERON:0002108	83.46	gold quality
putamen	UBERON:0001874	81.72	gold quality
right hemisphere of cerebellum	UBERON:0014890	81.72	gold quality
caudate nucleus	UBERON:0001873	81.70	gold quality
metanephros cortex	UBERON:0010533	80.15	gold quality
cerebellar hemisphere	UBERON:0002245	79.54	gold quality
cerebellar cortex	UBERON:0002129	79.39	gold quality
hypothalamus	UBERON:0001898	79.14	gold quality
adult mammalian kidney	UBERON:0000082	78.70	gold quality
cerebellum	UBERON:0002037	78.18	gold quality
upper lobe of left lung	UBERON:0008952	76.53	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	76.34	gold quality
body of stomach	UBERON:0001161	75.87	gold quality
upper lobe of lung	UBERON:0008948	75.65	gold quality
lower esophagus mucosa	UBERON:0035834	75.64	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	12.96

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

37 targeting GOLT1A, 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-4455	100.00	65.48	1587
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-6857-5P	99.87	65.32	985
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-2116-3P	99.74	64.32	889
HSA-MIR-148A-3P	99.74	73.77	1700
HSA-MIR-148B-3P	99.74	73.75	1700
HSA-MIR-152-3P	99.74	73.75	1703
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-422A	99.18	65.83	550
HSA-MIR-1909-3P	99.03	66.56	1662
HSA-MIR-6749-3P	99.00	65.73	1443
HSA-MIR-6868-3P	98.63	69.64	2259
HSA-MIR-6728-3P	98.63	67.63	1534
HSA-MIR-640	98.44	66.93	644
HSA-MIR-378B	98.43	65.36	573
HSA-MIR-378A-3P	98.43	66.10	548
HSA-MIR-378C	98.43	66.10	548
HSA-MIR-378D	98.43	66.10	548
HSA-MIR-378E	98.43	65.99	551
HSA-MIR-378F	98.43	65.66	554
HSA-MIR-378H	98.43	66.16	545
HSA-MIR-378I	98.43	66.10	548
HSA-MIR-6837-3P	98.42	66.71	1149
HSA-MIR-6804-5P	98.39	65.77	1084
HSA-MIR-6810-5P	98.29	66.21	975
HSA-MIR-4450	98.26	68.35	725
HSA-MIR-561-5P	98.25	68.13	1365

Literature-anchored findings (GeneRIF, showing 2)

• GOLT1A knockdown restored tamoxifen resistance and low GOLT1A levels correlate with better survival in patients with breast cancer. (PMID:26255816)
• GOLT1A-KISS1 fusion is associated with metastasis in adenoid cystic carcinomas. (PMID:32192769)

Cross-species orthologs

27 orthologs

Organism	Symbol	Gene ID
danio_rerio	golt1a	ENSDARG00000088933
mus_musculus	Golt1a	ENSMUSG00000103421
rattus_norvegicus	Golt1a	ENSRNOG00000002936
drosophila_melanogaster	CG32576	FBGN0052576
caenorhabditis_elegans		WBGENE00007112
caenorhabditis_elegans		WBGENE00008042
caenorhabditis_elegans		WBGENE00008043
caenorhabditis_elegans		WBGENE00008044
caenorhabditis_elegans		WBGENE00009237
caenorhabditis_elegans		WBGENE00013035
caenorhabditis_elegans		WBGENE00013037
caenorhabditis_elegans		WBGENE00013044
caenorhabditis_elegans		WBGENE00013101
caenorhabditis_elegans		WBGENE00013949
caenorhabditis_elegans		WBGENE00013950
caenorhabditis_elegans		WBGENE00015775
caenorhabditis_elegans		WBGENE00017764
caenorhabditis_elegans		WBGENE00019029
caenorhabditis_elegans		WBGENE00019269
caenorhabditis_elegans		WBGENE00019368
caenorhabditis_elegans		WBGENE00020341
caenorhabditis_elegans		WBGENE00020393
caenorhabditis_elegans		WBGENE00020662
caenorhabditis_elegans		WBGENE00021601
caenorhabditis_elegans	Y110A7A.7	WBGENE00022457
caenorhabditis_elegans		WBGENE00044488
caenorhabditis_elegans		WBGENE00189950

Paralogs (3): GOLT1B (ENSG00000111711), DAGLA (ENSG00000134780), DAGLB (ENSG00000164535)

Protein

Protein identifiers

Vesicle transport protein GOT1A — Q6ZVE7 (reviewed: Q6ZVE7)

Alternative names: Golgi transport 1 homolog A, hGOT1b

All UniProt accessions (1): Q6ZVE7

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in fusion of ER-derived transport vesicles with the Golgi complex.

Subcellular location. Golgi apparatus membrane.

Similarity. Belongs to the GOT1 family.

RefSeq proteins (1): NP_940849* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007305	Vesicle_transpt_Got1/SFT2	Family
IPR045176	Got1	Family

Pfam: PF04178

UniProt features (10 total): topological domain 5, transmembrane region 4, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZVE7-F1	76.15	0.18

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 433 (showing top): MODULE_52, GOBP_MEMBRANE_DEPOLARIZATION, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, MULLIGHAN_NPM1_SIGNATURE_3_UP, GOBP_GLUTAMINE_FAMILY_AMINO_ACID_BIOSYNTHETIC_PROCESS, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_RESPONSE_TO_IMMOBILIZATION_STRESS, GOBP_CELLULAR_RESPONSE_TO_EXTERNAL_STIMULUS, AAGTCCA_MIR422B_MIR422A, GOBP_RESPONSE_TO_CORTICOSTEROID, GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, KEGG_CYSTEINE_AND_METHIONINE_METABOLISM, GOBP_GLUTAMATE_METABOLIC_PROCESS, GOBP_POLYOL_METABOLIC_PROCESS

GO Biological Process (4): endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), protein transport (GO:0015031), retrograde transport, endosome to Golgi (GO:0042147), vesicle-mediated transport (GO:0016192)

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

GO Cellular Component (10): Golgi cis cisterna (GO:0000137), Golgi membrane (GO:0000139), nuclear envelope (GO:0005635), endoplasmic reticulum (GO:0005783), trans-Golgi network (GO:0005802), cytosol (GO:0005829), membrane (GO:0016020), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), endomembrane system (GO:0012505)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	4
cellular anatomical structure	4
endomembrane system	3
intercellular transport	2
transport	2
intracellular membrane-bounded organelle	2
intracellular transport	1
Golgi vesicle transport	1
intracellular protein localization	1
establishment of protein localization	1
endosomal transport	1
cytosolic transport	1
cellular process	1
binding	1
Golgi cisterna	1
Golgi apparatus	1
bounding membrane of organelle	1
nucleus	1
organelle envelope	1
Golgi apparatus subcompartment	1
intracellular anatomical structure	1
vacuole	1
plasma membrane	1

Protein interactions and networks

STRING

1524 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GOLT1A	ETNK2	Q9NVF9	690
GOLT1A	PLEKHA6	Q9Y2H5	572
GOLT1A	OR10A2	Q9H208	530
GOLT1A	PIK3C2B	O00750	499
GOLT1A	KCNV2	Q8TDN2	479
GOLT1A	KISS1	Q15726	457
GOLT1A	SLC5A10	A0PJK1	454
GOLT1A	GJB5	O95377	432
GOLT1A	PIH1D1	Q9NWS0	431
GOLT1A	GYS2	P54840	430
GOLT1A	PPP1R15B	Q5SWA1	420
GOLT1A	FAT2	Q9NYQ8	416
GOLT1A	SPX	Q9BT56	415
GOLT1A	ETNK1	Q9HBU6	410
GOLT1A	DLEU7	Q6UYE1	408

IntAct

193 interactions, top by confidence:

A	B	Type	Score
UBE2J1	GOLT1A	psi-mi:“MI:0915”(physical association)	0.560
CPT1B	GOLT1A	psi-mi:“MI:0915”(physical association)	0.560
GOLT1A	MSMO1	psi-mi:“MI:0915”(physical association)	0.560
C8A	GOLT1A	psi-mi:“MI:0915”(physical association)	0.560
GOLT1A	PLLP	psi-mi:“MI:0915”(physical association)	0.560
MSMO1	GOLT1A	psi-mi:“MI:0915”(physical association)	0.560
NDUFA3	GOLT1A	psi-mi:“MI:0915”(physical association)	0.560
GOLT1A	UBE2J1	psi-mi:“MI:0915”(physical association)	0.560
GOLT1A	NRM	psi-mi:“MI:0915”(physical association)	0.560
GOLT1A	FAXDC2	psi-mi:“MI:0915”(physical association)	0.560
GOLT1A	AGPAT3	psi-mi:“MI:0915”(physical association)	0.560
GOLT1A	RNF24	psi-mi:“MI:0915”(physical association)	0.560
ABHD16A	GOLT1A	psi-mi:“MI:0915”(physical association)	0.560
AQP6	GOLT1A	psi-mi:“MI:0915”(physical association)	0.560
TIMM23	GOLT1A	psi-mi:“MI:0915”(physical association)	0.560
MGLL	GOLT1A	psi-mi:“MI:0915”(physical association)	0.560
GYPA	GOLT1A	psi-mi:“MI:0915”(physical association)	0.560
GOLT1A	GPR152	psi-mi:“MI:0915”(physical association)	0.560
COX20	GOLT1A	psi-mi:“MI:0915”(physical association)	0.560
GOLT1A	TECR	psi-mi:“MI:0915”(physical association)	0.560
GOLT1A	TMEM242	psi-mi:“MI:0915”(physical association)	0.560
GOLT1A	CLDND2	psi-mi:“MI:0915”(physical association)	0.560
GOLT1A	HSD17B11	psi-mi:“MI:0915”(physical association)	0.560
GOLT1A	NAT8	psi-mi:“MI:0915”(physical association)	0.560
GOLT1A	CCDC167	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (32): GOLT1A (Synthetic Lethality), GOLT1A (Two-hybrid), GOLT1A (Two-hybrid), GOLT1A (Two-hybrid), GOLT1A (Two-hybrid), GOLT1A (Two-hybrid), GOLT1A (Two-hybrid), GOLT1A (Two-hybrid), GOLT1A (Two-hybrid), GOLT1A (Two-hybrid), GOLT1A (Two-hybrid), GOLT1A (Two-hybrid), GOLT1A (Two-hybrid), GOLT1A (Two-hybrid), GOLT1A (Two-hybrid)

ESM2 similar proteins: A3LPS1, A5DEQ7, A5DSM9, A6SFL7, A6ZMD0, A6ZY50, A7TGB4, A7TS55, B2ALT5, O14223, O74375, O95562, P11022, P38962, P53337, Q03554, Q03860, Q04767, Q0CSZ7, Q12116, Q20263, Q2NKV8, Q4FZV2, Q54IJ2, Q54K40, Q54NS7, Q54T60, Q54UF8, Q54VP1, Q5APC0, Q5SSN7, Q5U3Y5, Q6BWE7, Q6CMQ1, Q6CTK9, Q6FN38, Q6NMM1, Q6ZVE7, Q74ZP5, Q74ZU2

Diamond homologs: Q03554, Q20263, Q2NKV8, Q2YDE3, Q54CL4, Q6NMM1, Q6ZVE7, Q9CR60, Q9DCQ3, Q9USJ2, Q9Y3E0

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 101 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Ras activation upon Ca2+ influx through NMDA receptor	5	45.3×	4e-06
Unblocking of NMDA receptors, glutamate binding and activation	5	43.2×	4e-06
Negative regulation of NMDA receptor-mediated neuronal transmission	5	43.2×	4e-06
Long-term potentiation	5	37.8×	7e-06
Assembly and cell surface presentation of NMDA receptors	9	36.2×	3e-10
Neurexins and neuroligins	10	31.2×	1e-10
Protein-protein interactions at synapses	6	25.3×	5e-06

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	11	70.2×	1e-15
protein localization to synapse	6	50.5×	2e-07
receptor clustering	7	48.0×	2e-08
regulation of postsynaptic membrane neurotransmitter receptor levels	7	38.1×	1e-07
protein-containing complex assembly	9	11.3×	7e-06
cell-cell adhesion	9	10.0×	2e-05
chemical synaptic transmission	7	6.0×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	23
Likely benign	5
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1105 predictions. Top by Δscore:

Variant	Effect	Δscore
1:204201631:A:AC	donor_gain	1.0000
1:204201632:C:CC	donor_gain	1.0000
1:204213880:A:AC	donor_gain	1.0000
1:204213881:C:CT	donor_gain	1.0000
1:204213881:CT:C	donor_gain	1.0000
1:204199194:CCGCA:C	donor_gain	0.9900
1:204201629:TCA:T	donor_loss	0.9900
1:204201630:CACTT:C	donor_loss	0.9900
1:204201631:A:C	donor_loss	0.9900
1:204201632:CTT:C	donor_gain	0.9900
1:204201635:A:AC	donor_gain	0.9900
1:204201636:A:C	donor_gain	0.9900
1:204201729:C:A	donor_gain	0.9900
1:204201809:CAG:C	acceptor_gain	0.9900
1:204201812:C:CC	acceptor_gain	0.9900
1:204201813:T:A	acceptor_loss	0.9900
1:204202894:A:AC	donor_gain	0.9900
1:204202895:C:CC	donor_gain	0.9900
1:204213878:TTA:T	donor_loss	0.9900
1:204213879:TA:T	donor_loss	0.9900
1:204213880:ACTC:A	donor_loss	0.9900
1:204213881:CTCT:C	donor_gain	0.9900
1:204213881:CTCTG:C	donor_gain	0.9900
1:204213916:AG:A	donor_gain	0.9900
1:204198339:T:C	acceptor_gain	0.9800
1:204199189:GCTT:G	donor_loss	0.9800
1:204199190:CTT:C	donor_loss	0.9800
1:204199191:T:TC	donor_loss	0.9800
1:204199192:T:TG	donor_loss	0.9800
1:204199193:A:AC	donor_gain	0.9800

AlphaMissense

857 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:204199252:A:C	F101L	0.835
1:204199252:A:T	F101L	0.835
1:204199254:A:G	F101L	0.835
1:204201722:G:C	S69R	0.832
1:204201722:G:T	S69R	0.832
1:204201724:T:G	S69R	0.832
1:204201755:G:C	F58L	0.823
1:204201755:G:T	F58L	0.823
1:204201757:A:G	F58L	0.823
1:204202962:G:C	F17L	0.799
1:204202962:G:T	F17L	0.799
1:204202964:A:G	F17L	0.799
1:204201659:T:A	E90D	0.795
1:204201659:T:G	E90D	0.795
1:204201635:A:C	F98L	0.786
1:204201635:A:T	F98L	0.786
1:204201637:A:G	F98L	0.786
1:204199231:G:C	F108L	0.785
1:204199231:G:T	F108L	0.785
1:204199233:A:G	F108L	0.785
1:204202960:C:T	G18D	0.785
1:204202923:A:C	F30L	0.768
1:204202923:A:T	F30L	0.768
1:204202925:A:G	F30L	0.768
1:204202950:G:C	F21L	0.733
1:204202950:G:T	F21L	0.733
1:204202952:A:G	F21L	0.733
1:204202966:C:T	G16D	0.728
1:204202981:C:T	G11D	0.726
1:204201717:A:C	L71R	0.725

dbSNP variants (sampled 300 via entrez): RS1000497746 (1:204213482 A>G), RS1000550081 (1:204213232 C>A), RS1000783564 (1:204206375 C>G), RS1000984642 (1:204201049 C>T), RS1001447992 (1:204205658 T>A), RS1001943731 (1:204213955 C>A,T), RS1001999712 (1:204212656 AAG>A), RS1002016478 (1:204201582 C>G), RS1002369507 (1:204210931 G>T), RS1003073689 (1:204202651 G>C,T), RS1003405222 (1:204202980 A>G), RS1003928053 (1:204207854 T>C), RS1003996545 (1:204209418 C>A), RS1004251707 (1:204209844 G>A,T), RS1004434032 (1:204214710 C>T)

Disease associations

OMIM: gene MIM:620633 | 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
GCST008359_1	Response to cognitive-behavioural therapy in anxiety disorder	7.000000e-07
GCST009391_171	Metabolite levels	8.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007820	cognitive behavioural therapy
EFO:0009768	glutamine measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases methylation, increases expression	3
Cyclosporine	decreases expression, increases expression	3
Estradiol	affects expression, affects cotreatment, decreases expression	2
aristolochic acid I	increases expression	1
bisphenol A	affects expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
arsenite	increases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
tobacco tar	decreases reaction, increases expression	1
diallyl disulfide	decreases reaction, increases expression	1
allyl sulfide	decreases reaction, increases expression	1
K 7174	increases expression	1
abrine	increases expression	1
Zoledronic Acid	decreases expression	1
Acetaminophen	decreases expression	1
Azathioprine	increases expression	1
Camptothecin	increases expression	1
Dactinomycin	increases expression	1
Quercetin	increases expression	1
Silicon Dioxide	increases expression	1
Smoke	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Aflatoxin B1	increases methylation	1
Palmitic Acid	decreases expression	1
Okadaic Acid	decreases expression	1
Copper Sulfate	increases expression	1

Clinical trials (associated diseases)

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