GOLT1A (golgi transport 1A)

symbol
GOLT1A
locus group
protein-coding gene
location
1q32.1
gene_family
-
alias symbol
FLJ42654|CGI-141|YMR292W|GOT1|MGC62027
alias name
None
entrez id
127845
ensembl gene id
ENSG00000174567
ucsc gene id
uc001has.1
refseq accession
NM_198447
hgnc_id
HGNC:24766
approved reserved
2005-02-07
1q32.1

GOLT1A(Golgi Transport 1A)是高尔基体运输相关基因家族的一员,属于GOLT1基因家族,该家族成员主要参与高尔基体介导的囊泡运输过程,在细胞内蛋白质和脂质的转运、分选及分泌中发挥关键作用。GOLT1A编码的蛋白质定位于高尔基体膜上,通过与特定运输囊泡的相互作用,协助货物分子从内质网向高尔基体或从高尔基体向其他细胞器的定向运输。这一功能对维持细胞内膜系统的完整性和分泌途径的稳态至关重要。GOLT1A的突变可能导致其功能异常,进而干扰高尔基体的正常运输活动,引发蛋白质错误定位或积累,与某些神经退行性疾病(如阿尔茨海默病)和代谢障碍相关。研究表明,GOLT1A表达水平的变化会影响高尔基体的形态和功能,过表达可能加速囊泡运输但导致分选错误,而表达降低则可能引起运输阻滞,影响如胶原蛋白、激素等分泌蛋白的成熟与释放。此外,GOLT1A还与其他运输相关基因(如COG复合物基因)存在功能协同,其表达异常可能间接干扰这些基因的网络调控。GOLT1基因家族的共性在于均含有保守的跨膜结构域和囊泡结合区域,成员间通过相似机制参与膜运输,但各自可能负责不同的运输路线或货物类型。目前对GOLT1A的研究仍在深入,其在癌症转移中的潜在作用也受到关注,可能与肿瘤细胞的异常分泌活动有关。

Nucleotide sequence of GOLT1A:[NCBI]
Loading Gene Browser...
Protein Sequence
1MISITEWQKI GVGITGFGIF FILFGTLLYF DSVLLAFGNL
41LFLTGLSLII GLRKTFWFFF QRHKLKGTSF LLGGVVIVLL
81 RWPLLGMFL ETYGFFSLFK GFFPVAFGFL GNVCNIPFLG
121ALFRRLQGTS SMV
Structure predicted by AlphaFold DB(UniProt: Q6ZVE7). Color indicates pLDDT confidence (dark blue = high, yellow/orange = low).
SNP variants of GOLT1A:           Showing partial SNPs
rs13334       rs3795573       rs4373805       rs4520474       rs4534452       rs6593994       rs6593995       rs6685029       rs6685338       rs6689090       rs6689599       rs6689607       rs6700426       rs7544993       rs9726776       rs10900559       rs10900560      

Tissue expression of GOLT1A:    [UniProt]

Gene expression across tissues
Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
TTCAGCCTCTTTAAGGGCT
59
TAGTGCCTTGAAGTCTCCG
59
CTTCAGCCTCTTTAAGGGCT
60
CATCATCTGCTTACCGCAC
59
CCGAATGGCAGAAGATTGG
59
AATCAAAGTACAGGAGTGTTCC
58
ATGGCAGAAGATTGGTGTG
58
ACGGAATCAAAGTACAGGAG
57
CTTCAGCCTCTTTAAGGGC
58
CATCATCTGCTTACCGCAC
59
CTTCAGCCTCTTTAAGGGC
58
CTTGAAGTCTCCGGAACAG
58
TTCAGCCTCTTTAAGGGCT
59
CATCATCTGCTTACCGCAC
59
TTCAGCCTCTTTAAGGGCT
59
CTTGAAGTCTCCGGAACAG
58
AATGGCAGAAGATTGGTGTG
59
CGGAATCAAAGTACAGGAGTG
59

Subcellular localization of GOLT1A (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 GOLT1A:

GO ID
Protein
Source DB
GO:0000139
Q6ZVE7 (UniProtKB)
IEA
GO:0015031
Q6ZVE7 (UniProtKB)
IEA
GO:0016021
Q6ZVE7 (UniProtKB)
IEA
GO:0016192
Q6ZVE7 (UniProtKB)
IEA
String
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Interacting Gene Interaction Source/Score
Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source
Hypertensive disease 0.002367032 1 0 GAD
Preleukemia 0.000542884 2 0 BeFree
MYELODYSPLASTIC SYNDROME 0.000542884 2 0 BeFree
Ochoa syndrome 0.000542884 2 0 BeFree
Cerebral Infarction 0.000271442 1 0 BeFree
Homocystinuria 0.000271442 1 0 BeFree
Cerebral Ischemia 0.000271442 1 0 BeFree
Carcinoid tumor no ICD-O subtype 0.000271442 1 0 BeFree
Carcinoid Tumor 0.000271442 1 0 BeFree
miR-378a-3p modulates tamoxifen sensitivity in breast cancer MCF-7 cells through targeting GOLT1A.
Ikeda Kazuhiro, Horie-Inoue Kuniko, Ueno Toshihide, Suzuki Takashi, Sato Wataru, Shigekawa Takashi, Osaki Akihiko, Saeki Toshiaki, Berezikov Eugene, Mano Hiroyuki, Inoue Satoshi Sci Rep IF: 4.9 2016-07-29

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