Homo sapiens hairy/enhancer-of-split related with YRPW motif-like (HEYL), mRNA.
| RefSeq Version | NM_014571.3, 105990530 |
| Length | 4131 bp |
| Structure | linear |
| Update Date | 13-FEB-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens hairy/enhancer-of-split related with YRPW motif-like (HEYL), mRNA. |
| Product | hairy/enhancer-of-split related with YRPW motif-like protein |
| Comment | Summary: 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. [provided by RefSeq]. COMPLETENESS: complete on the 3' end. |
| RefSeq | NP_055386.1 |
| CDS | 52..1038 | Exon (1) | 1..131 | Exon (2) | 1..131 | Exon (3) | 132..198 | Exon (4) | 199..282 | Exon (5) | 283..364 | Exon (6) | 365..4114 |
| Translation | MKRPKEPSGSDGESDGPIDVGQEGQLSQMARPLSTPSSSQMQARKKRRGIIEKRRRDRIN
SSLSELRRLVPTAFEKQGSSKLEKAEVLQMTVDHLKMLHATGGTGFFDARALAVDFRSIG
FRECLTEVIRYLGVLEGPSSRADPVRIRLLSHLNSYAAEMEPSPTPTGPLAFPAWPWSFF
HSCPGLPALSNQLAILGRVPSPVLPGVSSPAYPIPALRTAPLRRATGIILPARRNVLPSR
GASSTRRARPLERPATPVPVAPSSRAARSSHIAPLLQSSSPTPPGPTGSAAYVAVPTPNS
SSPGPAGRPAGAMLYHSWVSEITEIGAF
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| Position | Chain | Variation | Link |
| 191 | + | a, g | dbSNP:784625 |
| 400 | + | c, t | dbSNP:34926922 |
| complement(502) | - | g, a | dbSNP:79211072 |
| complement(519) | - | g, a | dbSNP:41264505 |
| complement(546) | - | t, c | dbSNP:41264503 |
| complement(585) | - | g, a | dbSNP:113617017 |
| 586 | + | c, t | dbSNP:1180318 |
| complement(663) | - | g, a | dbSNP:115716116 |
| complement(667) | - | c, a | dbSNP:115068989 |
| complement(683) | - | g, c | dbSNP:112803927 |
| complement(753) | - | t, c | dbSNP:78932473 |
| complement(850) | - | g, c | dbSNP:1737738 |
| complement(851) | - | g, c | dbSNP:1737737 |
| complement(937) | - | g, a | dbSNP:75622263 |
| complement(1004..1005) | - | , cc | dbSNP:71719508 |
| 1128 | + | a, c, g | dbSNP:2695320 |
| complement(1212) | - | t, a | dbSNP:115608339 |
| complement(1362) | - | g, c | dbSNP:41264501 |
| 1397..1402 | + | , accagg | dbSNP:2307917 |
| complement(1440) | - | t, g | dbSNP:74577233 |
| complement(1561) | - | g, c | dbSNP:116379143 |
| complement(1627) | - | g, a | dbSNP:75663254 |
| complement(2098) | - | g, a | dbSNP:11206478 |
| complement(2203) | - | g, a | dbSNP:115564048 |
| complement(2288) | - | g, a | dbSNP:117679560 |
| complement(2319) | - | c, a | dbSNP:12049221 |
| complement(2412) | - | g, c | dbSNP:41264499 |
| complement(2795) | - | g, a | dbSNP:41264497 |
| complement(3165) | - | g, a | dbSNP:11554176 |
| complement(3174) | - | c, a | dbSNP:41264495 |
| complement(3218) | - | g, a | dbSNP:41264493 |
| complement(3225) | - | g, a | dbSNP:41264491 |
| 3272 | + | c, t | dbSNP:6587 |
| complement(3355) | - | g, a | dbSNP:78706896 |
| complement(3622) | - | t, c | dbSNP:12030495 |
| 3654 | + | c, t | dbSNP:2695321 |
| complement(3792) | - | t, g | dbSNP:116401702 |
| complement(3809) | - | t, g | dbSNP:114297514 |
| complement(3847) | - | t, g | dbSNP:12022423 |
| Gene Symbol | HEYL |
| Gene Synonym | bHLHb33; HEY3; HRT3; MGC12623 |
| Chromosome | 1 |
| Locus Map | 1p34.3 |
| All Transcripts | NM_014571 |
| Title | Hesr, a mediator of the Notch signaling, functions in heart and vessel development . |
| Author | Kokubo,H., Miyagawa-Tomita,S. and Johnson,R.L. |
| Journal | Trends Cardiovasc. Med. 15 (5), 190-194 (2005) |
| Title | Functional proteomics mapping of a human signaling pathway . |
| Author | Colland,F., Jacq,X., Trouplin,V., Mougin,C., Groizeleau,C., Hamburger,A., Meil,A., Wojcik,J., Legrain,P. and Gauthier,J.M. |
| Journal | Genome Res. 14 (7), 1324-1332 (2004) |
| Title | HES and HERP families: multiple effectors of the Notch signaling pathway . |
| Author | Iso,T., Kedes,L. and Hamamori,Y. |
| Journal | J. Cell. Physiol. 194 (3), 237-255 (2003) |
| Title | Members of the HRT family of basic helix-loop-helix proteins act as transcriptional repressors downstream of Notch signaling . |
| Author | Nakagawa,O., McFadden,D.G., Nakagawa,M., Yanagisawa,H., Hu,T., Srivastava,D. and Olson,E.N. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 97 (25), 13655-13660 (2000) |
| Title | The basic helix-loop-helix transcription factors dHAND and eHAND exhibit dimerization characteristics that suggest complex regulation of function . |
| Author | Firulli,B.A., Hadzic,D.B., McDaid,J.R. and Firulli,A.B. |
| Journal | J. Biol. Chem. 275 (43), 33567-33573 (2000) |
| Title | Characterization of the human and mouse HEY1, HEY2, and HEYL genes: cloning, mapping, and mutation screening of a new bHLH gene family . |
| Author | Steidl,C., Leimeister,C., Klamt,B., Maier,M., Nanda,I., Dixon,M., Clarke,R., Schmid,M. and Gessler,M. |
| Journal | Genomics 66 (2), 195-203 (2000) |
| Title | Hey genes: a novel subfamily of hairy- and Enhancer of split related genes specifically expressed during mouse embryogenesis . |
| Author | Leimeister,C., Externbrink,A., Klamt,B. and Gessler,M. |
| Journal | Mech. Dev. 85 (1-2), 173-177 (1999) |
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