GOLT1B

gene
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Also known as CGI-141YMR292WGOT1

Summary

GOLT1B (golgi transport 1B, HGNC:20175) is a protein-coding gene on chromosome 12p12.1, encoding Vesicle transport protein GOT1B (Q9Y3E0). May be involved in fusion of ER-derived transport vesicles with the Golgi complex.

Involved in positive regulation of canonical NF-kappaB signal transduction. Located in endoplasmic reticulum. Part of protein-containing complex.

Source: NCBI Gene 51026 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 24 total
  • Druggable target: yes
  • MANE Select transcript: NM_016072

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:20175
Approved symbolGOLT1B
Namegolgi transport 1B
Location12p12.1
Locus typegene with protein product
StatusApproved
AliasesCGI-141, YMR292W, GOT1
Ensembl geneENSG00000111711
Ensembl biotypeprotein_coding
OMIM615078
Entrez51026

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 4 protein_coding, 3 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000229314, ENST00000535593, ENST00000539025, ENST00000539663, ENST00000540141, ENST00000542038, ENST00000542194, ENST00000545093, ENST00000545113, ENST00000631252

RefSeq mRNA: 1 — MANE Select: NM_016072 NM_016072

CCDS: CCDS8689

Canonical transcript exons

ENST00000229314 — 5 exons

ExonStartEnd
ENSE000009949112151566921518408
ENSE000034869692150838321508561
ENSE000036333722150688521506976
ENSE000036391402151229521512376
ENSE000038417512150178921501948

Expression profiles

Bgee: expression breadth ubiquitous, 284 present calls, max score 99.14.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 47.7259 / max 1063.6702, expressed in 1819 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter IDTPM avgSamples expressed
12466641.37721816
1246683.32841314
1246672.28301176
1246690.7373398

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
secondary oocyteCL:000065599.14gold quality
oocyteCL:000002397.51gold quality
tibiaUBERON:000097996.86gold quality
islet of LangerhansUBERON:000000694.82gold quality
endothelial cellCL:000011594.80gold quality
palpebral conjunctivaUBERON:000181294.55gold quality
substantia nigra pars reticulataUBERON:000196694.54gold quality
lateral globus pallidusUBERON:000247694.42gold quality
cartilage tissueUBERON:000241894.41gold quality
substantia nigra pars compactaUBERON:000196594.15gold quality
synovial jointUBERON:000221794.10gold quality
eyeUBERON:000097094.04gold quality
calcaneal tendonUBERON:000370193.91gold quality
stromal cell of endometriumCL:000225593.73gold quality
epithelium of nasopharynxUBERON:000195193.47gold quality
subthalamic nucleusUBERON:000190693.28gold quality
lateral nuclear group of thalamusUBERON:000273693.16gold quality
parietal pleuraUBERON:000240093.12gold quality
superficial temporal arteryUBERON:000161493.05gold quality
pericardiumUBERON:000240792.85gold quality
body of pancreasUBERON:000115092.79gold quality
pancreasUBERON:000126492.78gold quality
endometriumUBERON:000129592.76gold quality
visceral pleuraUBERON:000240192.68gold quality
deciduaUBERON:000245092.66gold quality
skin of hipUBERON:000155492.61gold quality
placentaUBERON:000198792.61gold quality
superior vestibular nucleusUBERON:000722792.59gold quality
pigmented layer of retinaUBERON:000178292.56gold quality
ponsUBERON:000098892.38gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-MTAB-7249no1578.95
E-MTAB-7303no46.32
E-ANND-3no0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

199 targeting GOLT1B, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-5692A100.0074.406850
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-7110-3P100.0073.182486
HSA-MIR-340-5P100.0072.504437
HSA-MIR-3646100.0073.565283
HSA-MIR-513A-5P100.0069.772465
HSA-MIR-186-5P99.9970.833707
HSA-MIR-450099.9972.722367
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-428299.9975.366408
HSA-MIR-511-3P99.9968.851467
HSA-MIR-477599.9875.006394
HSA-LET-7A-5P99.9872.291790
HSA-LET-7B-5P99.9872.311790
HSA-LET-7C-5P99.9872.291790
HSA-LET-7E-5P99.9872.291790
HSA-LET-7F-5P99.9872.561784
HSA-LET-7G-5P99.9872.371784
HSA-LET-7I-5P99.9872.371788
HSA-MIR-98-5P99.9872.331787
HSA-MIR-1213699.9872.815713
HSA-MIR-520D-5P99.9873.344883
HSA-MIR-524-5P99.9873.434882
HSA-MIR-27A-3P99.9872.132955
HSA-MIR-27B-3P99.9872.132955
HSA-MIR-998599.9872.112939
HSA-MIR-499A-5P99.9870.791323
HSA-MIR-806899.9873.852376
HSA-MIR-3617-3P99.9867.86918
HSA-MIR-314899.9775.066478

Cross-species orthologs

28 orthologs

OrganismSymbolGene ID
danio_reriogolt1baENSDARG00000022795
danio_reriogolt1bbENSDARG00000059308
mus_musculusGolt1bENSMUSG00000030245
rattus_norvegicusGolt1bENSRNOG00000058386
drosophila_melanogasterCG32576FBGN0052576
caenorhabditis_elegansWBGENE00007112
caenorhabditis_elegansWBGENE00008042
caenorhabditis_elegansWBGENE00008043
caenorhabditis_elegansWBGENE00008044
caenorhabditis_elegansWBGENE00009237
caenorhabditis_elegansWBGENE00013035
caenorhabditis_elegansWBGENE00013037
caenorhabditis_elegansWBGENE00013044
caenorhabditis_elegansWBGENE00013101
caenorhabditis_elegansWBGENE00013949
caenorhabditis_elegansWBGENE00013950
caenorhabditis_elegansWBGENE00015775
caenorhabditis_elegansWBGENE00017764
caenorhabditis_elegansWBGENE00019029
caenorhabditis_elegansWBGENE00019269
caenorhabditis_elegansWBGENE00019368
caenorhabditis_elegansWBGENE00020341
caenorhabditis_elegansWBGENE00020393
caenorhabditis_elegansWBGENE00020662
caenorhabditis_elegansWBGENE00021601
caenorhabditis_elegansY110A7A.7WBGENE00022457
caenorhabditis_elegansWBGENE00044488
caenorhabditis_elegansWBGENE00189950

Paralogs (3): DAGLA (ENSG00000134780), DAGLB (ENSG00000164535), GOLT1A (ENSG00000174567)

Protein

Protein identifiers

Vesicle transport protein GOT1BQ9Y3E0 (reviewed: Q9Y3E0)

Alternative names: Germ cell tumor 2, Golgi transport 1 homolog B, Putative NF-kappa-B-activating protein 470, hGOT1a

All UniProt accessions (5): Q9Y3E0, F5GWD8, F5GXH6, F5H6U7, G3V1U5

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.

Tissue specificity. Widely expressed. Tends to be up-regulated in seminomas compared to normal testis.

Similarity. Belongs to the GOT1 family.

RefSeq proteins (1): NP_057156* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR007305Vesicle_transpt_Got1/SFT2Family
IPR045176Got1Family

Pfam: PF04178

UniProt features (13 total): topological domain 5, transmembrane region 4, sequence conflict 2, chain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9Y3E0-F188.170.54

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 (1): 1

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 528 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, MODULE_52, GOBP_MEMBRANE_DEPOLARIZATION, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, 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, GOBP_RESPONSE_TO_CORTICOSTEROID, TTTGTAG_MIR520D, GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, KEGG_CYSTEINE_AND_METHIONINE_METABOLISM

GO Biological Process (5): endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), protein transport (GO:0015031), retrograde transport, endosome to Golgi (GO:0042147), positive regulation of canonical NF-kappaB signal transduction (GO:0043123), vesicle-mediated transport (GO:0016192)

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

GO Cellular Component (8): Golgi membrane (GO:0000139), endoplasmic reticulum (GO:0005783), cytosol (GO:0005829), membrane (GO:0016020), protein-containing complex (GO:0032991), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), endomembrane system (GO:0012505)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cytoplasm4
cellular anatomical structure4
intercellular transport2
transport2
endomembrane system2
intracellular membrane-bounded organelle2
intracellular transport1
Golgi vesicle transport1
intracellular protein localization1
establishment of protein localization1
endosomal transport1
cytosolic transport1
canonical NF-kappaB signal transduction1
regulation of canonical NF-kappaB signal transduction1
positive regulation of intracellular signal transduction1
cellular process1
binding1
Golgi apparatus1
bounding membrane of organelle1
cellular_component1
intracellular anatomical structure1
vacuole1
plasma membrane1

Protein interactions and networks

STRING

2324 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
GOLT1BINTS13Q9NVM9720
GOLT1BSPRYD3Q8NCJ5494
GOLT1BSERTAD4Q9NUC0488
GOLT1BPYROXD1Q8WU10469
GOLT1BGTPBP10A4D1E9452
GOLT1BGOLM2Q6P4E1442
GOLT1BGYS2P54840426
GOLT1BSLC30A1Q9Y6M5394
GOLT1BOSER1Q9NX31385
GOLT1BMANFP55145381
GOLT1BGPANK1O95872379
GOLT1BRCOR3Q9P2K3378
GOLT1BTMED2Q15363370
GOLT1BKCNJ8Q15842360
GOLT1BPLEKHA5Q9HAU0359

IntAct

63 interactions, top by confidence:

ABTypeScore
GOLT1BSH3GL3psi-mi:“MI:0915”(physical association)0.560
SDCBPGOLT1Bpsi-mi:“MI:0915”(physical association)0.560
SPG21GOLT1Bpsi-mi:“MI:0915”(physical association)0.560
INPP5KGOLT1Bpsi-mi:“MI:0915”(physical association)0.560
SHISAL2AGOLT1Bpsi-mi:“MI:0915”(physical association)0.560
SAR1AGOLT1Bpsi-mi:“MI:0915”(physical association)0.560
GPR152GOLT1Bpsi-mi:“MI:0915”(physical association)0.560
SH3GL3GOLT1Bpsi-mi:“MI:0915”(physical association)0.560
MUC1GOLT1Bpsi-mi:“MI:0915”(physical association)0.560
CREB3L1GOLT1Bpsi-mi:“MI:0915”(physical association)0.560
SLC10A6GOLT1Bpsi-mi:“MI:0915”(physical association)0.560
TMEM30BKLRG2psi-mi:“MI:0914”(association)0.530
GOLT1Bpsi-mi:“MI:0915”(physical association)0.400
Tmem109ASXL2psi-mi:“MI:0914”(association)0.350
Uso1SLC30A6psi-mi:“MI:0914”(association)0.350
REEP5CNOT1psi-mi:“MI:0914”(association)0.350
NABP1XPO1psi-mi:“MI:0914”(association)0.350
KATNA1KATNBL1psi-mi:“MI:0914”(association)0.350
GOLT1Bpsi-mi:“MI:0914”(association)0.350
ESYT2psi-mi:“MI:0914”(association)0.350
E5ESYT2psi-mi:“MI:0914”(association)0.350
ORF28PEX19psi-mi:“MI:0914”(association)0.350
OCRLMYO1Cpsi-mi:“MI:0914”(association)0.350
RAC1psi-mi:“MI:0914”(association)0.350
HLA-Cpsi-mi:“MI:0914”(association)0.350
GOLT1BNBASpsi-mi:“MI:0914”(association)0.350
BSCL2TMEM223psi-mi:“MI:0914”(association)0.350

BioGRID (260): GOLT1B (Affinity Capture-MS), GOLT1B (Proximity Label-MS), GOLT1B (Proximity Label-MS), ANXA1 (Affinity Capture-MS), ATP1A1 (Affinity Capture-MS), ATP2A2 (Affinity Capture-MS), ATP5A1 (Affinity Capture-MS), ATP5B (Affinity Capture-MS), ATP5J (Affinity Capture-MS), ATP6V1A (Affinity Capture-MS), ATP6V1B2 (Affinity Capture-MS), ATP6V1E1 (Affinity Capture-MS), ATP6V0A1 (Affinity Capture-MS), ATP6AP1 (Affinity Capture-MS), ATP5O (Affinity Capture-MS)

ESM2 similar proteins: A1CKG4, A3LPS1, A4R2N5, A5DEQ7, A5DSM9, A6QRX6, A6RRF7, A6ZMD0, A7EMV1, A7S6Y0, A7TS55, B2AR67, B3M9W1, B3NDM7, B4GRI8, B4HIJ8, B4J043, B4L0H1, B4LIH0, B4MXW6, B4PD01, B4QLP9, O74375, O95562, Q03554, Q04767, Q0CNZ5, Q0V0G4, Q1E1E0, Q20263, Q2NKV8, Q2YDE3, Q4FZV2, Q54CL4, Q5APC0, Q5SSN7, Q5U3Y5, Q60EA5, Q6BWE7, Q6CC06

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

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance9
Likely benign1
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1953 predictions. Top by Δscore:

VariantEffectΔscore
10:99397682:CTTGG:Cacceptor_gain1.0000
10:99397687:C:CCacceptor_gain1.0000
10:99397690:T:Cacceptor_gain1.0000
10:99397690:T:TCacceptor_gain1.0000
10:99397698:C:CTacceptor_gain1.0000
10:99402578:A:ACdonor_gain1.0000
10:99402579:C:CCdonor_gain1.0000
10:99402721:TC:Tacceptor_gain1.0000
10:99402722:CC:Cacceptor_gain1.0000
10:99403472:T:Adonor_gain1.0000
10:99403520:C:CAdonor_gain1.0000
10:99403635:C:CCacceptor_gain1.0000
10:99403722:A:ACdonor_gain1.0000
10:99403723:C:CCdonor_gain1.0000
10:99405752:TTA:Tdonor_loss1.0000
10:99405755:C:CAdonor_loss1.0000
10:99405861:C:CCacceptor_gain1.0000
10:99406132:CCCA:Cdonor_loss1.0000
10:99406133:CCA:Cdonor_loss1.0000
10:99406134:CA:Cdonor_loss1.0000
10:99406135:A:Cdonor_loss1.0000
10:99406136:C:CAdonor_loss1.0000
10:99406220:C:CTacceptor_gain1.0000
10:99406221:A:Tacceptor_gain1.0000
10:99406246:TTCT:Tacceptor_gain1.0000
10:99406248:CT:Cacceptor_gain1.0000
10:99406250:C:CCacceptor_gain1.0000
10:99406251:T:Gacceptor_loss1.0000
10:99406254:A:ACacceptor_gain1.0000
10:99406254:A:Cacceptor_gain1.0000

AlphaMissense

905 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
12:21506905:G:AG16R0.999
12:21506905:G:CG16R0.999
12:21506912:G:AG18E0.999
12:21506972:G:TG38V0.999
12:21506906:G:AG16E0.998
12:21506911:G:AG18R0.998
12:21506911:G:CG18R0.998
12:21506933:G:AG25E0.998
12:21506971:G:AG38R0.998
12:21506971:G:CG38R0.998
12:21506972:G:AG38E0.998
12:21506976:T:AN39K0.998
12:21506976:T:GN39K0.998
12:21508398:G:CG45R0.998
12:21508521:G:CG86R0.998
12:21508522:G:AG86D0.998
12:21508543:G:AG93E0.998
12:21506890:G:AG11R0.997
12:21506890:G:CG11R0.997
12:21506896:G:AG13R0.997
12:21506896:G:CG13R0.997
12:21506932:G:AG25R0.997
12:21506932:G:CG25R0.997
12:21506933:G:TG25V0.997
12:21508399:G:AG45D0.997
12:21508485:G:CG74R0.997
12:21508542:G:AG93R0.997
12:21508542:G:CG93R0.997
12:21512299:T:CF101L0.997
12:21512301:C:AF101L0.997

dbSNP variants (sampled 300 via entrez): RS1000209483 (12:21511986 T>A), RS1000300399 (12:21510608 T>G), RS1000575319 (12:21499900 C>A), RS1000678648 (12:21518512 A>G), RS1000728860 (12:21511676 G>A), RS1001418717 (12:21510191 T>C), RS1001441652 (12:21508834 A>G), RS1001607032 (12:21502757 T>C), RS1001647251 (12:21515901 TAAG>T), RS1001973375 (12:21516133 A>G), RS1002319432 (12:21504836 A>T), RS1002421610 (12:21511432 A>C), RS1002446117 (12:21507046 C>T), RS1002653414 (12:21516197 A>G,T), RS1002876081 (12:21504105 A>C)

Disease associations

OMIM: gene MIM:615078 | 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: yes

ChEMBL targets (1): CHEMBL6066348 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChemblTypeValueUnitMolecule
7.01Kd96.96nMCHEMBL5653589
7.01ED5096.96nMCHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

CompoundAssayTypeValueUnit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide2148450: Binding affinity to human GOLT1B incubated for 45 mins by Kinobead based pull down assaykd0.0970uM

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects expression, decreases expression, increases expression3
Cyclosporineincreases expression3
bisphenol Adecreases expression, decreases methylation2
sodium arseniteincreases abundance, increases expression2
Air Pollutantsaffects cotreatment, increases abundance, increases oxidation, decreases expression2
Tobacco Smoke Pollutionincreases expression2
aristolochic acid Idecreases expression1
GSK-J4increases expression1
bisphenol Fincreases expression1
dicrotophosdecreases expression1
methylmercuric chlorideincreases expression1
triphenyl phosphateaffects expression1
alpha-pineneincreases oxidation, increases abundance, affects cotreatment1
decabromobiphenyl etherincreases expression1
beta-lapachonedecreases expression1
arseniteincreases reaction, affects binding1
methylparabenincreases expression1
tetrabromobisphenol Aincreases expression1
ochratoxin Aaffects cotreatment, increases expression1
methacrylaldehydeaffects cotreatment, increases oxidation, increases abundance1
CGP 52608affects binding, increases reaction1
K 7174increases expression1
ICG 001increases expression1
bisphenol Bincreases expression1
2,2’,4,4’-tetrabromodiphenyl etherincreases expression1
hexabrominated diphenyl ether 153increases expression1
jinfukangdecreases expression1
picoxystrobinincreases expression1
NSC 689534affects binding, increases expression1
Resveratrolaffects cotreatment, increases expression1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL5651492BindingBinding affinity to human GOLT1B incubated for 45 mins by Kinobead based pull down assayNVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

CellosaurusNameCategorySex
CVCL_D7QTUbigene A-549 GOLT1B KOCancer cell lineMale

Clinical trials (associated diseases)

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

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.