Misplaced Pages

TECR
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2DZJ
Identifiers
Aliases	TECR, GPSN2, MRT14, SC2, TER, trans-2,3-enoyl-CoA reductase
External IDs	OMIM: 610057; MGI: 1915408; HomoloGene: 36231; GeneCards: TECR; OMA:TECR - orthologs
Gene location (Human) Chr. Chromosome 19 (human) Band 19p13.12 Start 14,517,085 bp End 14,565,980 bp
Gene location (Mouse) Chr. Chromosome 8 (mouse) Band 8 C2|8 40.22 cM Start 84,298,327 bp End 84,334,600 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right hemisphere of cerebellum left testis right testis skin of abdomen skin of leg C1 segment minor salivary glands muscle of thigh right adrenal cortex right frontal lobe Top expressed in central gray substance of midbrain cerebellar cortex cerebellar vermis dorsal tegmental nucleus ventromedial nucleus medial vestibular nucleus primary visual cortex supraoptic nucleus lobe of cerebellum pontine nuclei More reference expression data BioGPS n/a
Gene ontology Molecular function oxidoreductase activity, acting on the CH-CH group of donors protein binding very-long-chain-acyl-CoA dehydrogenase activity oxidoreductase activity very-long-chain enoyl-CoA reductase activity Cellular component cytoplasm integral component of membrane integral component of endoplasmic reticulum membrane endoplasmic reticulum membrane endoplasmic reticulum nucleus membrane Biological process fatty acid elongation fatty acid biosynthetic process long-chain fatty-acyl-CoA biosynthetic process very long-chain fatty acid biosynthetic process fatty acid metabolic process lipid metabolism sphingolipid metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9524 106529 Ensembl ENSG00000099797 ENSMUSG00000031708 UniProt Q9NZ01 Q9CY27 RefSeq (mRNA) NM_004868 NM_138501 NM_001321170 NM_027179 NM_134118 RefSeq (protein) NP_001308099 NP_612510 NP_081455 NP_598879 Location (UCSC) Chr 19: 14.52 – 14.57 Mb Chr 8: 84.3 – 84.33 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Trans-2,3-enoyl-CoA reductase is an enzyme that in humans is encoded by the TECR gene.

This gene encodes a multi-pass membrane protein that resides in the endoplasmic reticulum, and belongs to the steroid 5-alpha reductase family. The elongation of microsomal long and very long chain fatty acid consists of 4 sequential reactions. This protein catalyzes the final step, reducing trans-2,3-enoyl-CoA to saturated acyl-CoA. Alternatively spliced transcript variants have been found for this gene.

Clinical relevance

Mutations in this gene have been shown to cause non-syndromic mental retardation.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000099797 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000031708 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ "Entrez Gene: Trans-2,3-enoyl-CoA reductase". Retrieved 2011-12-30.
6. Çalışkan M, Chong JX, Uricchio L, Anderson R, Chen P, Sougnez C, Garimella K, Gabriel SB, dePristo MA, Shakir K, Matern D, Das S, Waggoner D, Nicolae DL, Ober C (April 2011). "Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13". Hum. Mol. Genet. 20 (7): 1285–9. doi:10.1093/hmg/ddq569. PMC 3115579. PMID 21212097.

Further reading

• Moon, Y. -A.; Horton, J. D. (2002). "Identification of Two Mammalian Reductases Involved in the Two-carbon Fatty Acyl Elongation Cascade". Journal of Biological Chemistry. 278 (9): 7335–7343. doi:10.1074/jbc.M211684200. PMID 12482854.
• Hashmi, G.; Shariff, T.; Seul, M.; Vissavajjhala, P.; Hue-Roye, K.; Charles-Pierre, D.; Lomas-Francis, C.; Chaudhuri, A.; Reid, M. E. (2005). "A flexible array format for large-scale, rapid blood group DNA typing". Transfusion. 45 (5): 680–688. doi:10.1111/j.1537-2995.2005.04362.x. PMID 15847654. S2CID 40662473.
• Lehner, R.; Kuksis, A. (1996). "Biosynthesis of triacylglycerols". Progress in Lipid Research. 35 (2): 169–201. doi:10.1016/0163-7827(96)00005-7. PMID 8944226.
• Mao, M.; Fu, G.; Wu, J. S.; Zhang, Q. H.; Zhou, J.; Kan, L. X.; Huang, Q. H.; He, K. L.; Gu, B. W.; Han, Z. -G.; Shen, Y.; Gu, J.; Yu, Y. -P.; Xu, S. -H.; Wang, Y. -X.; Chen, S. -J.; Chen, Z. (1998). "Identification of genes expressed in human CD34+ hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning". Proceedings of the National Academy of Sciences of the United States of America. 95 (14): 8175–8180. Bibcode:1998PNAS...95.8175M. doi:10.1073/pnas.95.14.8175. PMC 20949. PMID 9653160.

• Biology

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article on a gene on human chromosome 19 is a stub. You can help Misplaced Pages by expanding it.

• v
• t
• e

• Genes on human chromosome 19
• EC 1.3.1
• Human chromosome 19 gene stubs