CTPS1
protein-coding gene in the species Homo sapiens
Facts
13 properties- Instance of
- gene
- Subclass of
- protein-coding gene
- Chromosome
- human chromosome 1[17]
- Cytogenetic location
- 1p34.2[20]
- Encodes
- CTP synthase 1[15]
- Expressed in
- parotid gland, ascending aorta, left uterine tube, right coronary artery, left coronary artery, gonad, body of uterus, popliteal artery, tibial arteries, muscle layer of sigmoid colon[21][22][23][24][25][26][27][28][29][30]
- Found in taxon
- Homo sapiens[16]
- Genetic association
- severe combined immunodeficiency due to CTPS1 deficiency[18]
- HomoloGene ID
- 20446[3]
- Strand orientation
- forward strand[19]
🏷️ Also known as
en CTPS
en CTPS1
en CTP synthase 1
en GATD5
en IMD24
🔖 Identifiers · 12
- Image (Wikimedia Commons)
- PDB 2vo1 EBI.png ↗
- Ensembl gene ID
- ENSG00000171793
- Ensembl transcript ID
- ENST00000498694, ENST00000372616, ENST00000372621, ENST00000463285, ENST00000463423, ENST00000464283, ENST00000470271, ENST00000475060, ENST00000479480, ENST00000480420, ENST00000486889, ENST00000497210
- Entrez Gene ID
- 1503
- Exact match
- identifiers.org
- Freebase ID
- /m/0b6jsl5
- HGNC ID
- 2519
- HGNC gene symbol
- CTPS1
- Microsoft Academic ID (discontinued)
- 2778786820
- OMIM ID
- 123860
- RefSeq RNA ID
- NM_001301237, NM_001905, NR_125440, XR_001737003, XR_001737004
- UMLS CUI
- C1413804
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