HEYL

Protein-coding gene in the species Homo sapiens
HEYL
Identifiers
AliasesHEYL, HESR3, HEY3, HRT3, bHLHb33, hes related family bHLH transcription factor with YRPW motif-like, hes related family bHLH transcription factor with YRPW motif like
External IDsOMIM: 609034 MGI: 1860511 HomoloGene: 8494 GeneCards: HEYL
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for HEYL
Genomic location for HEYL
Band1p34.2Start39,623,435 bp[1]
End39,639,643 bp[1]
Gene location (Mouse)
Chromosome 4 (mouse)
Chr.Chromosome 4 (mouse)[2]
Chromosome 4 (mouse)
Genomic location for HEYL
Genomic location for HEYL
Band4|4 D2.2Start123,127,349 bp[2]
End123,143,668 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right coronary artery

  • left coronary artery

  • body of pancreas

  • ascending aorta

  • right lung

  • left ventricle

  • left uterine tube

  • upper lobe of left lung

  • right lobe of thyroid gland

  • islet of Langerhans
Top expressed in
  • ascending aorta

  • external carotid artery

  • aortic valve

  • internal carotid artery

  • spinal nerve

  • urethra

  • female urethra

  • stria vascularis

  • male urethra

  • vascular smooth muscle
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • microsatellite binding
  • DNA binding
  • sequence-specific DNA binding
  • transcription corepressor activity
  • protein dimerization activity
  • protein homodimerization activity
  • DNA-binding transcription factor activity
  • DNA-binding transcription activator activity, RNA polymerase II-specific
  • transcription factor binding
  • protein binding
  • protein heterodimerization activity
  • AF-1 domain binding
  • RNA polymerase II core promoter sequence-specific DNA binding
  • RNA polymerase II general transcription initiation factor activity
  • DNA-binding transcription factor activity, RNA polymerase II-specific
  • RNA polymerase II cis-regulatory region sequence-specific DNA binding
  • RNA polymerase II transcription regulatory region sequence-specific DNA binding
  • DNA-binding transcription repressor activity, RNA polymerase II-specific
  • sequence-specific double-stranded DNA binding
Cellular component
  • nucleoplasm
  • nucleus
  • cytoplasm
Biological process
  • regulation of transcription, DNA-templated
  • negative regulation of androgen receptor signaling pathway
  • cellular response to BMP stimulus
  • glomerulus development
  • transcription by RNA polymerase II
  • negative regulation of gene expression
  • transcription, DNA-templated
  • multicellular organism development
  • proximal tubule development
  • skeletal muscle cell differentiation
  • Notch signaling pathway
  • negative regulation of transcription by RNA polymerase II
  • positive regulation of neuron differentiation
  • positive regulation of transcription by RNA polymerase II
  • outflow tract morphogenesis
  • atrioventricular valve morphogenesis
  • cardiac ventricle morphogenesis
  • cardiac epithelial to mesenchymal transition
  • mesenchymal cell development
  • pulmonary valve morphogenesis
  • epithelial to mesenchymal transition involved in endocardial cushion formation
  • ventricular septum morphogenesis
  • endocardial cushion morphogenesis
  • negative regulation of transcription, DNA-templated
  • positive regulation of transcription of Notch receptor target
  • blood vessel development
  • heart development
  • cell differentiation
  • regulation of neurogenesis
  • negative regulation of DNA-binding transcription factor activity
  • aortic valve morphogenesis
  • Notch signaling involved in heart development
  • anterior/posterior pattern specification
  • circulatory system development
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

26508

56198

Ensembl

ENSG00000163909

ENSMUSG00000032744

UniProt

Q9NQ87

Q9DBX7

RefSeq (mRNA)

NM_014571

NM_013905

RefSeq (protein)

NP_055386

NP_038933

Location (UCSC)Chr 1: 39.62 – 39.64 MbChr 4: 123.13 – 123.14 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Hairy/enhancer-of-split related with YRPW motif-like protein is a protein that in humans is encoded by the HEYL gene.[5][6][7]

This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The sequence of the encoded protein contains a conserved bHLH and orange domain, but its YRPW motif has diverged from other HESR family members. It is thought to be an effector of Notch signaling and a regulator of cell fate decisions. Alternatively spliced transcript variants have been found, but their biological validity has not been determined.[7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000163909 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000032744 – 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. ^ Leimeister C, Externbrink A, Klamt B, Gessler M (Sep 1999). "Hey genes: a novel subfamily of hairy- and Enhancer of split related genes specifically expressed during mouse embryogenesis". Mech Dev. 85 (1–2): 173–7. doi:10.1016/S0925-4773(99)00080-5. PMID 10415358. S2CID 17342136.
  6. ^ Steidl C, Leimeister C, Klamt B, Maier M, Nanda I, Dixon M, Clarke R, Schmid M, Gessler M (Aug 2000). "Characterization of the human and mouse HEY1, HEY2, and HEYL genes: cloning, mapping, and mutation screening of a new bHLH gene family". Genomics. 66 (2): 195–203. doi:10.1006/geno.2000.6200. PMID 10860664.
  7. ^ a b "Entrez Gene: HEYL hairy/enhancer-of-split related with YRPW motif-like".

Further reading

  • Iso T, Kedes L, Hamamori Y (2003). "HES and HERP families: multiple effectors of the Notch signaling pathway". J. Cell. Physiol. 194 (3): 237–55. doi:10.1002/jcp.10208. PMID 12548545. S2CID 6463286.
  • Kokubo H, Miyagawa-Tomita S, Johnson RL (2006). "Hesr, a mediator of the Notch signaling, functions in heart and vessel development". Trends Cardiovasc. Med. 15 (5): 190–4. doi:10.1016/j.tcm.2005.05.005. PMID 16165016.
  • Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
  • Firulli BA, Hadzic DB, McDaid JR, Firulli AB (2000). "The basic helix-loop-helix transcription factors dHAND and eHAND exhibit dimerization characteristics that suggest complex regulation of function". J. Biol. Chem. 275 (43): 33567–73. doi:10.1074/jbc.M005888200. PMC 2561327. PMID 10924525.
  • Nakagawa O, McFadden DG, Nakagawa M, et al. (2001). "Members of the HRT family of basic helix-loop-helix proteins act as transcriptional repressors downstream of Notch signaling". Proc. Natl. Acad. Sci. U.S.A. 97 (25): 13655–60. Bibcode:2000PNAS...9713655N. doi:10.1073/pnas.250485597. PMC 17631. PMID 11095750.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Colland F, Jacq X, Trouplin V, et al. (2004). "Functional proteomics mapping of a human signaling pathway". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748.
  • Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.

External links

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

  • v
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(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


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