GOLT1B (golgi transport 1B)

Gene Basic Information

Gene Basic Information

symbol
GOLT1B
locus group
protein-coding gene
location
12p12.1
gene_family
-
alias symbol
CGI-141|YMR292W|GOT1
alias name
None
entrez id
51026
ensembl gene id
ENSG00000111711
ucsc gene id
uc001rez.3
refseq accession
NM_016072
hgnc_id
HGNC:20175
approved reserved
2005-02-07

Chromosome Location

Chromosome Location

12p12.1

Gene Summary

Gene Summary

GOLT1B（Golgi Transport 1B）是高尔基体运输相关蛋白家族（GOLT1家族）的成员之一，该家族主要参与细胞内高尔基体介导的囊泡运输过程。GOLT1B编码的蛋白质在高尔基体膜上发挥作用，协助调控蛋白质和脂质在高尔基体与其他细胞器之间的运输，对维持细胞内膜系统的完整性和功能至关重要。GOLT1B及其家族成员（如GOLT1A）具有保守的结构域，通常包含跨膜区和与囊泡形成或运输相关的功能区域，这些特性使它们能够与其他运输机器（如COPII囊泡）相互作用，确保货物分子的正确分选和运输。GOLT1B的功能异常可能导致高尔基体结构紊乱或运输障碍，进而影响分泌途径、细胞信号传导和膜蛋白定位等关键过程。研究表明，GOLT1B的突变或表达异常可能与某些神经系统疾病或代谢紊乱相关，例如某些遗传性神经退行性疾病中观察到高尔基体功能受损的现象。当GOLT1B过表达时，可能干扰高尔基体的正常运输平衡，引发蛋白质错误定位或积累；而表达降低则可能导致运输效率下降，影响依赖高尔基体加工的蛋白质（如激素或神经递质）的分泌。此外，GOLT1B的表达水平变化还可能间接影响其他依赖囊泡运输的基因或通路，例如与溶酶体功能或自噬相关的基因。目前对GOLT1B的具体致病机制研究仍在深入，但其作为高尔基体运输的核心组分，在细胞生理和疾病中的作用日益受到关注。

OMIM entry for GOLT1B     Wikipedia entry for GOLT1B

Gene Sequence

Gene Sequence

Nucleotide sequence of GOLT1B:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MISLTDTQKI GMGLTGFGVF FLFFGMILFF DKALLAIGNV
41LFVAGLAFVI GLERTFRFFF QKHKMKATGF FLGGVFVVLI
81 GWPLIGMIF EIYGFFLLFR GFFPVVVGFI RRVPVLGSLL
121NLPGIRSFVD KVGESNNMV
Structure predicted by AlphaFold DB(UniProt: Q9Y3E0). Color indicates pLDDT confidence (dark blue = high, yellow/orange = low).

Gene Variants

Gene Variants

SNP variants of GOLT1B:           Showing partial SNPs
rs1366       rs768833       rs1048617       rs1060126       rs1061626       rs1061627       rs1558502       rs1860947       rs2080102       rs2080103       rs2080104       rs2110161       rs2110162       rs2300211       rs2300212       rs2417991       rs2417992      

Gene Expression

Gene Expression

Tissue expression of GOLT1B:    [UniProt]

Gene expression across tissues

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
AGCCATGATCTCCTTAACGG
60
CACTCCAAATCCTGTTAATCCC
59
CCTTTGATAGGCATGATCTTCG
59
CAACGACAGGAAAGAAGCC
59
TTCTTTCCTGTCGTTGTTGG
59
CCTATGTAGTTGATCTAATTCCAGG
59
GGGATTAACAGGATTTGGAGTG
59
CTACAGGAGTTTATTTCCAATAGCC
60
CCTTTGATAGGCATGATCTTCG
59
CAACGACAGGAAAGAAGCC
59
GGGATTAACAGGATTTGGAGTG
59
CTACAGGAGTTTATTTCCAATAGCC
60
GTTTCCCGGCTTCATTTCTC
60
ACAGGAAAGAAGCCCTCTG
59
GGGATTAACAGGATTTGGAGTG
59
CTACAGGAGTTTATTTCCAATAGCC
60
TATTGGAAATGGGCTTCTTTCC
59
CAGGTAAATTTAGGAGGGATCCA
60
GAATGGGATTAACAGGATTTGG
58
CTGACAGGTTTCATTCATTTCC
58

Gene Ontology

Subcellular localization of GOLT1B (and its protein):

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • plasma membrane
  • cytoplasm
  • extracellular
  • golgi
  • vesicle
  • cytoskeleton
  • endoplasmic reticulum
  • nucleus
  • endosome
  • lysosome
  • mitochondrion

Gene Ontology (GO) terms for GOLT1B:

GO ID
Protein
Source DB
GO:0016021
F5GWD8 (UniProtKB)
IEA
GO:0016021
F5GXH6 (UniProtKB)
IEA
GO:0016021
F5H6U7 (UniProtKB)
IEA
GO:0016192
F5H6U7 (UniProtKB)
IEA
GO:0016021
G3V1U5 (UniProtKB)
IEA
GO:0016192
G3V1U5 (UniProtKB)
IEA
GO:0000139
Q9Y3E0 (UniProtKB)
IEA
GO:0004871
Q9Y3E0 (UniProtKB)
IMP
GO:0005783
Q9Y3E0 (UniProtKB)
IDA
GO:0007165
Q9Y3E0 (UniProtKB)
IEA
GO:0015031
Q9Y3E0 (UniProtKB)
IEA
GO:0016020
Q9Y3E0 (UniProtKB)
IDA
GO:0016021
Q9Y3E0 (UniProtKB)
IEA
GO:0016192
Q9Y3E0 (UniProtKB)
IEA
GO:0043123
Q9Y3E0 (UniProtKB)
IMP

Related microRNA

Related microRNA

microRNAs potentially regulating GOLT1B:     

Gene Interactions

Gene Interactions

String
BioGrid
IntAct
mentha
Loading…
Interacting Gene Interaction Source/Score

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source
Preleukemia 0.000542884 2 0 BeFree
MYELODYSPLASTIC SYNDROME 0.000542884 2 0 BeFree
Ochoa syndrome 0.000542884 2 0 BeFree
Homocystinuria 0.000271442 1 0 BeFree
Cerebral Ischemia 0.000271442 1 0 BeFree
Carcinoid Tumor 0.000271442 1 0 BeFree
Seminoma 0.000271442 1 0 BeFree
Cerebral Infarction 0.000271442 1 0 BeFree
Carcinoid tumor no ICD-O subtype 0.000271442 1 0 BeFree

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