TECR

TECR
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	2DZJ
Identifikatori
Aliasi	TECR
Vanjski ID-jevi	OMIM: 610057 MGI: 1915408 HomoloGene: 36231 GeneCards: TECR
Lokacija gena (čovjek)
Hrom.	Hromosom 19 (čovjek)
Kraj	14,565,980 bp
Lokacija gena (miš)
Hrom.	Hromosom 8 (miš)
Kraj	84,334,600 bp
Ontologija gena
Molekularna funkcija	• oxidoreductase activity, acting on the CH-CH group of donors; • GO:0001948, GO:0016582 vezivanje za proteine; • very-long-chain-acyl-CoA dehydrogenase activity; • oxidoreductase activity; • very-long-chain enoyl-CoA reductase activity;
Ćelijska komponenta	• citoplazma; • integral component of membrane; • integral component of endoplasmic reticulum membrane; • endoplasmic reticulum membrane; • Endoplazmatski retikulum; • jedro; • membrana;
Biološki proces	• 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;
	Izvori:Amigo / QuickGO
Ortolozi
	9524
	106529
	ENSG00000099797
	ENSMUSG00000031708
	Q9NZ01
	Q9CY27
	NM_004868; NM_138501; NM_001321170
	NM_027179; NM_134118
	NP_001308099; NP_612510
	NP_081455; NP_598879
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Trans-2,3-enoil-CoA reduktaza je enzim koji je kod ljudi kodiran genom TECR.^[5]

Ovaj gen kodira membranski protein sa više prolaza koji se nalazi u endoplazmatskom retikulumu i pripada porodici steroida 5-alfa reduktaza. Elongacija mikrosomskih dugih i vrlo dugih lanaca masnih kiselina sastoji se od četiri uzastopne reakcije. Ovaj protein katalizira završni korak, reducirajući trans-2,3-enoil-CoA do zasićenog acil-CoA. Pronađene su alternativno prerađene varijante transkripta za ovaj gen..^[5]

Aminokiselinska sekvenca

Simboli

C: Cistein
D: Asparaginska kiselina
E: Glutaminska kiselina
F: Fenilalanin
G: Glicin
H: Histidin
I: Izoleucin
K: Lizin
L: Leucin
M: Metionin
N: Asparagin
P: Prolin
Q: Glutamin
R: Arginin
S: Serin
T: Treonin
V: Valin
W: Triptofan
Y: Tirozin

10	20	30	40	50
MKHYEVEILD	AKTREKLCFL	DKVEPHATIA	EIKNLFTKTH	PQWYPARQSL
RLDPKGKSLK	DEDVLQKLPV	GTTATLYFRD	LGAQISWVTV	FLTEYAGPLF
IYLLFYFRVP	FIYGHKYDFT	SSRHTVVHLA	CICHSFHYIK	RLLETLFVHR
FSHGTMPLRN	IFKNCTYYWG	FAAWMAYYIN	HPLYTPPTYG	AQQVKLALAI
FVICQLGNFS	IHMALRDLRP	AGSKTRKIPY	PTKNPFTWLF	LLVSCPNYTY
EVGSWIGFAI	MTQCLPVALF	SLVGFTQMTI	WAKGKHRSYL	KEFRDYPPLR
MPIIPFLL

Klinički značaj

Pokazalo se da mutacije ovog gena uzrokuju nesindromsku mentalnu retardaciju.^[6]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000099797 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000031708 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: Trans-2,3-enoyl-CoA reductase". Pristupljeno 30. 12. 2011.
^ 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.

Dopunska literatura

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.
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.

Vanjski linkovi

Portal Biologija

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000099797 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000031708 - Ensembl, maj 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.

[entrez-5] "Entrez Gene: Trans-2,3-enoyl-CoA reductase". Pristupljeno 30. 12. 2011.

[pmid21212097-6] 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.

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