TECR

Protein-coding gene in the species Homo sapiens
TECR
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

2DZJ

Identifiers
AliasesTECR, GPSN2, MRT14, SC2, TER, trans-2,3-enoyl-CoA reductase
External IDsOMIM: 610057; MGI: 1915408; HomoloGene: 36231; GeneCards: TECR; OMA:TECR - orthologs
Gene location (Human)
Chromosome 19 (human)
Chr.Chromosome 19 (human)[1]
Chromosome 19 (human)
Genomic location for TECR
Genomic location for TECR
Band19p13.12Start14,517,085 bp[1]
End14,565,980 bp[1]
Gene location (Mouse)
Chromosome 8 (mouse)
Chr.Chromosome 8 (mouse)[2]
Chromosome 8 (mouse)
Genomic location for TECR
Genomic location for TECR
Band8 C2|8 40.22 cMStart84,298,327 bp[2]
End84,334,600 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 8: 84.3 – 84.33 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Trans-2,3-enoyl-CoA reductase is an enzyme that in humans is encoded by the TECR gene.[5]

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.[5]

Clinical relevance

Mutations in this gene have been shown to cause non-syndromic mental retardation.[6]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000099797 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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.
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