KLF14

KLF14
Identifiers
Aliases	KLF14, BTEB5, Kruppel-like factor 14, Kruppel like factor 14
External IDs	OMIM: 609393; MGI: 3577024; HomoloGene: 76469; GeneCards: KLF14; OMA:KLF14 - orthologs
Gene location (Human)
Chr.	Chromosome 7 (human)
End	130,734,207 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	30,936,013 bp
RNA expression pattern
	Top expressed in
	gonad; ; testicle; ; right adrenal cortex; ; left adrenal gland; ; left adrenal cortex; ; muscle of thigh; ; gastrocnemius muscle; ; subcutaneous adipose tissue; ; skeletal muscle tissue; ; smooth muscle tissue;
	Top expressed in
	pituitary gland; ; yolk sac; ; lumbar subsegment of spinal cord; ; embryo; ; umbilical cord; ; internal carotid artery; ; condyle; ; epididymis; ; fossa; ; efferent ductule;
	More reference expression data
	n/a
Gene ontology
Molecular function	DNA binding; metal ion binding; nucleic acid binding; DNA-binding transcription activator activity, RNA polymerase II-specific; sequence-specific DNA binding; DNA-binding transcription factor activity, RNA polymerase II-specific; chromatin binding;
Cellular component	nucleus;
Biological process	regulation of transcription, DNA-templated; transcription, DNA-templated; transcription by RNA polymerase II; positive regulation of transcription by RNA polymerase II; positive regulation of sphingolipid mediated signaling pathway; regulation of transcription by RNA polymerase II;
	Sources:Amigo / QuickGO
Orthologs
	136259
	619665
	ENSG00000266265
	ENSMUSG00000073209
	Q8TD94
	Q19A41
	NM_138693
	NM_001135093
	NP_619638
	NP_001128565
	Wikidata
View/Edit Human	View/Edit Mouse

Krüppel-like factor 14, also known as basic transcription element-binding protein 5 (BTEB5) is a protein that in humans is encoded by the KLF14 gene.^[5] The corresponding Klf14 mouse gene is known as Sp6.^[6]

Function

KLF14 is a member of the Krüppel-like factor family of transcription factors. It regulates the transcription of various genes, including TGFβRII (the type II receptor for TGFβ).^[7] KLF14 is expressed in many tissues,^[8] lacks introns, and is subject to parent-specific expression.^[9]

KLF14 appears to be a master regulator of gene expression in adipose tissue.^[10]

Protein structure

Like the other members of the KLF family, KLF14 has three zinc-finger domains near the C-terminus, all three of which are of the classical C₂H₂ type. In the human, they are at amino acids 195–219, 225–249, and 255–277.^[11]

Human KLF14 is 323 amino acids in length, with a molecular weight of 33,124;^[11] in the mouse its length is 325.^[12]

Clinical significance

There appears to be a connection between KLF14 and coronary artery disease, hypercholesterolemia and type 2 diabetes.^[13]^[14]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000266265 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000073209 – Ensembl, May 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.
^ "Klf14 Kruppel-like factor 14 [Mus musculus] - Gene result".
^ "Sp6 trans-acting transcription factor 6 [Mus musculus] - Gene result".
^ Truty MJ, Lomberk G, Fernandez-Zapico ME, Urrutia R (Mar 2009). "Silencing of the transforming growth factor-beta (TGFbeta) receptor II by Kruppel-like factor 14 underscores the importance of a negative feedback mechanism in TGFbeta signaling". The Journal of Biological Chemistry. 284 (10): 6291–300. doi:10.1074/jbc.M807791200. PMC 2649086. PMID 19088080.
^ Swamynathan SK (Apr 2010). "Krüppel-like factors: three fingers in control". Human Genomics. 4 (4): 263–70. doi:10.1186/1479-7364-4-4-263. PMC 2975451. PMID 20511139.
^ Parker-Katiraee L, Carson AR, Yamada T, Arnaud P, Feil R, Abu-Amero SN, Moore GE, Kaneda M, Perry GH, Stone AC, Lee C, Meguro-Horike M, Sasaki H, Kobayashi K, Nakabayashi K, Scherer SW (May 2007). "Identification of the imprinted KLF14 transcription factor undergoing human-specific accelerated evolution". PLOS Genetics. 3 (5): e65. doi:10.1371/journal.pgen.0030065. PMC 1865561. PMID 17480121.
^ Small KS, Hedman AK, Grundberg E, Nica AC, Thorleifsson G, Kong A, Thorsteindottir U, Shin SY, Richards HB, Soranzo N, Ahmadi KR, Lindgren CM, Stefansson K, Dermitzakis ET, Deloukas P, Spector TD, McCarthy MI (Jun 2011). "Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes". Nature Genetics. 43 (6): 561–4. doi:10.1038/ng.833. PMC 3192952. PMID 21572415.
^ ^a ^b "Krüppel-like factor 14". Human Protein Reference Database. Johns Hopkins University. Retrieved 2011-05-18.^{[permanent dead link]}
^ Online Mendelian Inheritance in Man (OMIM): Krüppel-like factor 14 - 609393
^ Voight BF, Scott LJ, Steinthorsdottir V, Morris AP, Dina C, Welch RP, et al. (Jul 2010). "Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis". Nature Genetics. 42 (7): 579–89. doi:10.1038/ng.609. PMC 3080658. PMID 20581827.
^ Grarup N, Sparsø T, Hansen T (Dec 2010). "Physiologic characterization of type 2 diabetes-related loci". Current Diabetes Reports. 10 (6): 485–97. doi:10.1007/s11892-010-0154-y. PMC 2955912. PMID 20886378.

External links

Huffington Post: Scientists Find Genetic 'Switch' For Obesity

This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000266265 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000073209 – 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.

[entrez-5] "Klf14 Kruppel-like factor 14 [Mus musculus] - Gene result".

[6] "Sp6 trans-acting transcription factor 6 [Mus musculus] - Gene result".

[pmid19088080-7] Truty MJ, Lomberk G, Fernandez-Zapico ME, Urrutia R (Mar 2009). "Silencing of the transforming growth factor-beta (TGFbeta) receptor II by Kruppel-like factor 14 underscores the importance of a negative feedback mechanism in TGFbeta signaling". The Journal of Biological Chemistry. 284 (10): 6291–300. doi:10.1074/jbc.M807791200. PMC 2649086. PMID 19088080.

[pmid20511139-8] Swamynathan SK (Apr 2010). "Krüppel-like factors: three fingers in control". Human Genomics. 4 (4): 263–70. doi:10.1186/1479-7364-4-4-263. PMC 2975451. PMID 20511139.

[pmid17480121-9] Parker-Katiraee L, Carson AR, Yamada T, Arnaud P, Feil R, Abu-Amero SN, Moore GE, Kaneda M, Perry GH, Stone AC, Lee C, Meguro-Horike M, Sasaki H, Kobayashi K, Nakabayashi K, Scherer SW (May 2007). "Identification of the imprinted KLF14 transcription factor undergoing human-specific accelerated evolution". PLOS Genetics. 3 (5): e65. doi:10.1371/journal.pgen.0030065. PMC 1865561. PMID 17480121.

[10] Small KS, Hedman AK, Grundberg E, Nica AC, Thorleifsson G, Kong A, Thorsteindottir U, Shin SY, Richards HB, Soranzo N, Ahmadi KR, Lindgren CM, Stefansson K, Dermitzakis ET, Deloukas P, Spector TD, McCarthy MI (Jun 2011). "Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes". Nature Genetics. 43 (6): 561–4. doi:10.1038/ng.833. PMC 3192952. PMID 21572415.

[HPRD_KLF14-11] "Krüppel-like factor 14". Human Protein Reference Database. Johns Hopkins University. Retrieved 2011-05-18.^{[permanent dead link]}

[OMIM_KLF14-12] Online Mendelian Inheritance in Man (OMIM): Krüppel-like factor 14 - 609393

[pmid20581827-13] Voight BF, Scott LJ, Steinthorsdottir V, Morris AP, Dina C, Welch RP, et al. (Jul 2010). "Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis". Nature Genetics. 42 (7): 579–89. doi:10.1038/ng.609. PMC 3080658. PMID 20581827.

[pmid20886378-14] Grarup N, Sparsø T, Hansen T (Dec 2010). "Physiologic characterization of type 2 diabetes-related loci". Current Diabetes Reports. 10 (6): 485–97. doi:10.1007/s11892-010-0154-y. PMC 2955912. PMID 20886378.

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