Details for: GNAT1

Gene ID: 2779

Symbol: GNAT1

Ensembl ID: ENSG00000114349

Description: G protein subunit alpha transducin 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: glial cell (CL0000125)
    Fold Change: 16.36
    Marker Score: 17985
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 4.21
    Marker Score: 12003
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 2.95
    Marker Score: 878
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 2.28
    Marker Score: 1265
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 1.99
    Marker Score: 2222
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 1.56
    Marker Score: 815
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 1.46
    Marker Score: 3027
  • Cell Name: T cell (CL0000084)
    Fold Change: 1.39
    Marker Score: 2401
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.27
    Marker Score: 1351
  • Cell Name: B cell (CL0000236)
    Fold Change: 1.19
    Marker Score: 1137.5
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.16
    Marker Score: 7690
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 1.1
    Marker Score: 2529
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71818
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48046
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.96
    Marker Score: 1819
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.95
    Marker Score: 299.5
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5350
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2742
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5289
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.87
    Marker Score: 275
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.85
    Marker Score: 494
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 0.83
    Marker Score: 1008
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1269
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 712
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.78
    Marker Score: 402
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.76
    Marker Score: 892
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.75
    Marker Score: 316
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.74
    Marker Score: 1194
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.7
    Marker Score: 369.5
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.66
    Marker Score: 640
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.65
    Marker Score: 515
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.63
    Marker Score: 173
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 0.61
    Marker Score: 273
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.57
    Marker Score: 705
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.53
    Marker Score: 737
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.52
    Marker Score: 302
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.5
    Marker Score: 4375
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.48
    Marker Score: 7560
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.47
    Marker Score: 364.5
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.47
    Marker Score: 282
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 0.41
    Marker Score: 397
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.4
    Marker Score: 168
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.4
    Marker Score: 211
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: 0.39
    Marker Score: 1141
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.39
    Marker Score: 257
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.38
    Marker Score: 252
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.38
    Marker Score: 895
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.38
    Marker Score: 1006
  • Cell Name: type I pneumocyte (CL0002062)
    Fold Change: 0.36
    Marker Score: 436
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.34
    Marker Score: 195
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.34
    Marker Score: 544
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.33
    Marker Score: 332
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.33
    Marker Score: 127
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.29
    Marker Score: 592
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.28
    Marker Score: 802
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.27
    Marker Score: 79
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.27
    Marker Score: 127
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.26
    Marker Score: 96
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 0.26
    Marker Score: 775
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.22
    Marker Score: 133
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.22
    Marker Score: 219
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 0.21
    Marker Score: 539
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.2
    Marker Score: 1186
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: 0.19
    Marker Score: 251
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.19
    Marker Score: 62
  • Cell Name: type G enteroendocrine cell (CL0000508)
    Fold Change: 0.19
    Marker Score: 66
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.19
    Marker Score: 59
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.16
    Marker Score: 225
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 0.16
    Marker Score: 38
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.15
    Marker Score: 535.5
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.15
    Marker Score: 134
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.15
    Marker Score: 55
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.14
    Marker Score: 1198
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.14
    Marker Score: 36
  • Cell Name: starburst amacrine cell (CL0004232)
    Fold Change: 0.14
    Marker Score: 39
  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: 0.14
    Marker Score: 196
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.13
    Marker Score: 125
  • Cell Name: mucosal invariant T cell (CL0000940)
    Fold Change: 0.13
    Marker Score: 113
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.12
    Marker Score: 91
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.12
    Marker Score: 245
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.12
    Marker Score: 103
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.12
    Marker Score: 81
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.12
    Marker Score: 27
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.12
    Marker Score: 51
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.11
    Marker Score: 71
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.11
    Marker Score: 46
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.11
    Marker Score: 50
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.11
    Marker Score: 130
  • Cell Name: epithelial cell of thymus (CL0002293)
    Fold Change: 0.1
    Marker Score: 31
  • Cell Name: progenitor cell (CL0011026)
    Fold Change: 0.1
    Marker Score: 617
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.09
    Marker Score: 26
  • Cell Name: S cone cell (CL0003050)
    Fold Change: 0.09
    Marker Score: 26
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 0.08
    Marker Score: 30
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.08
    Marker Score: 45
  • Cell Name: endothelial cell of artery (CL1000413)
    Fold Change: 0.08
    Marker Score: 32
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.08
    Marker Score: 28
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.07
    Marker Score: 51
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.07
    Marker Score: 42

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Other Information

**Key characteristics:** * GNAT1 is a G protein subunit that is responsible for the activation of the phototransduction cascade. * It is a transmembrane protein that is expressed in a variety of cell types, including glial cells, retinal rod cells, eye photoreceptor cells, erythrocytes, plasma cells, rod bipolar cells, kidney proximal convoluted tubule epithelial cells, T cells, and kidney distal convoluted tubule epithelial cells. * GNAT1 is a key regulator of the phototransduction cascade, and its expression is regulated by a variety of factors, including light, hormones, and neurotransmitters. **Pathways and functions:** * The phototransduction cascade is a complex signaling pathway that is responsible for the perception of light. * GNAT1 is one of the proteins that is involved in the activation of the cascade. * It binds to the G protein alpha (i) subunit of the G-protein beta/gamma-subunit complex and activates it, which leads to the activation of the phototransduction cascade. * The cascade then leads to the activation of G protein-coupled receptors (GPCRs), which are responsible for the perception of light. **Clinical significance:** GNAT1 is a gene that is associated with a number of eye diseases, including age-related macular degeneration (AMD), diabetic retinopathy, and retinal detachment. * Mutations in GNAT1 have been linked to the development of these eye diseases. * GNAT1 is a promising target for the treatment of eye diseases that are caused by mutations in genes that are involved in the phototransduction cascade.

Genular Protein ID: 3163851009

Symbol: GNAT1_HUMAN

Name: Guanine nucleotide-binding protein G(t) subunit alpha-1

UniProtKB Accession Codes:

P11488 Q4VBN2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 8 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 3 EMBL 5 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 40 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 1 PIR 1 PRINTS 2 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 3 RefSeq 2 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1614872

Title: Characterization of the human rod transducin alpha-subunit gene.

PubMed ID: 1614872

DOI: 10.1093/nar/20.11.2865

PubMed ID: 2534964

Title: Alpha transducin is present in blue-, green-, and red-sensitive cone photoreceptors in the human retina.

PubMed ID: 2534964

DOI: 10.1016/0896-6273(89)90261-4

PubMed ID: 2748346

Title: Nucleotide sequence for a cDNA encoding the alpha subunit of retinal transducin (GNAT1) isolated from the human eye.

PubMed ID: 2748346

DOI: 10.1093/nar/17.12.4887

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11032890

Title: Tyrosine phosphorylation of the alpha subunit of transducin and its association with Src in photoreceptor rod outer segments.

PubMed ID: 11032890

DOI: 10.1046/j.1471-4159.2000.0752006.x

PubMed ID: 17584859

Title: p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness.

PubMed ID: 17584859

DOI: 10.1002/humu.9499

PubMed ID: 22190596

Title: GNAT1 associated with autosomal recessive congenital stationary night blindness.

PubMed ID: 22190596

DOI: 10.1167/iovs.11-8026

PubMed ID: 8673138

Title: Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness.

PubMed ID: 8673138

DOI: 10.1038/ng0796-358

PubMed ID: 21642972

Title: UNC119 is required for G protein trafficking in sensory neurons.

PubMed ID: 21642972

DOI: 10.1038/nn.2835

Sequence Information:

  • Length: 350
  • Mass: 40041
  • Checksum: D901013CFF5B0C7F
  • Sequence:
    • MGAGASAEEK HSRELEKKLK EDAEKDARTV KLLLLGAGES GKSTIVKQMK IIHQDGYSLE 
ECLEFIAIIY GNTLQSILAI VRAMTTLNIQ YGDSARQDDA RKLMHMADTI EEGTMPKEMS 
DIIQRLWKDS GIQACFERAS EYQLNDSAGY YLSDLERLVT PGYVPTEQDV LRSRVKTTGI 
IETQFSFKDL NFRMFDVGGQ RSERKKWIHC FEGVTCIIFI AALSAYDMVL VEDDEVNRMH 
ESLHLFNSIC NHRYFATTSI VLFLNKKDVF FEKIKKAHLS ICFPDYDGPN TYEDAGNYIK 
VQFLELNMRR DVKEIYSHMT CATDTQNVKF VFDAVTDIII KENLKDCGLF

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.