KLF14

Protein-coding gene in the species Homo sapiens
KLF14
Identifiers
AliasesKLF14, BTEB5, Kruppel-like factor 14, Kruppel like factor 14
External IDsOMIM: 609393 MGI: 3577024 HomoloGene: 76469 GeneCards: KLF14
Gene location (Human)
Chromosome 7 (human)
Chr.Chromosome 7 (human)[1]
Chromosome 7 (human)
Genomic location for KLF14
Genomic location for KLF14
Band7q32.2Start130,730,697 bp[1]
End130,734,207 bp[1]
Gene location (Mouse)
Chromosome 6 (mouse)
Chr.Chromosome 6 (mouse)[2]
Chromosome 6 (mouse)
Genomic location for KLF14
Genomic location for KLF14
Band6|6 A3.3Start30,932,958 bp[2]
End30,936,013 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • left adrenal gland

  • gastrocnemius muscle

  • subcutaneous adipose tissue

  • skeletal muscle tissue

  • smooth muscle tissue

  • left uterine tube

  • placenta

  • pancreas

  • body of pancreas

  • blood
Top expressed in
  • pituitary gland

  • yolk sac

  • belly cord

  • internal carotid artery

  • condyle

  • epididymis

  • fossa

  • atrium

  • dermis

  • external carotid artery
More reference expression data
BioGPS
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
SpeciesHumanMouse
Entrez

136259

619665

Ensembl

ENSG00000266265

ENSMUSG00000073209

UniProt

Q8TD94

Q19A41

RefSeq (mRNA)

NM_138693

NM_001135093

RefSeq (protein)

NP_619638

NP_001128565

Location (UCSC)Chr 7: 130.73 – 130.73 MbChr 6: 30.93 – 30.94 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000266265 – Ensembl, May 2017
  2. ^ a b c 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.
  5. ^ "Klf14 Kruppel-like factor 14 [Mus musculus] - Gene result".
  6. ^ "Sp6 trans-acting transcription factor 6 [Mus musculus] - Gene result".
  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.
  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.
  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.
  11. ^ a b "Krüppel-like factor 14". Human Protein Reference Database. Johns Hopkins University. Retrieved 2011-05-18.
  12. ^ Online Mendelian Inheritance in Man (OMIM): Krüppel-like factor 14 - 609393
  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.
  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.

External links

  • Huffington Post: Scientists Find Genetic 'Switch' For Obesity
  • v
  • t
  • e
(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3) bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3) Helix-turn-helix domains
(3.1) Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3) Fork head / winged helix
(3.4) Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4) β-Scaffold factors with minor groove contacts
(4.1) Rel homology region
(4.2) STAT
(4.3) p53-like
(4.4) MADS box
(4.6) TATA-binding proteins
(4.7) High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3) Pocket domain
(0.5) AP-2/EREBP-related factors
(0.6) Miscellaneous
see also transcription factor/coregulator deficiencies


Stub icon

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

  • v
  • t
  • e