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Q9Y5J3 (HEY1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 140. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Hairy/enhancer-of-split related with YRPW motif protein 1
Alternative name(s):
Cardiovascular helix-loop-helix factor 2
Short name=CHF-2
Class B basic helix-loop-helix protein 31
Short name=bHLHb31
HES-related repressor protein 1
Hairy and enhancer of split-related protein 1
Short name=HESR-1
Hairy-related transcription factor 1
Short name=HRT-1
Short name=hHRT1
Gene names
Name:HEY1
Synonyms:BHLHB31, CHF2, HERP2, HESR1, HRT1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length304 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Downstream effector of Notch signaling which may be required for cardiovascular development. Transcriptional repressor which binds preferentially to the canonical E box sequence 5'-CACGTG-3'. Represses transcription by the cardiac transcriptional activators GATA4 and GATA6. Ref.6 Ref.12

Subunit structure

Self-associates By similarity. Interacts with HES1 and HEYL By similarity. Interacts with HDAC1, NCOR1 and SIN3A By similarity. Interacts with GATA4 and GATA6 By similarity. Interacts with CCDC89/BOIP By similarity.

Subcellular location

Nucleus By similarity.

Tissue specificity

Expressed in the somitic mesoderm, the central nervous system, the kidney, the heart, nasal epithelium, and limbs.

Sequence similarities

Belongs to the HEY family.

Contains 1 bHLH (basic helix-loop-helix) domain.

Contains 1 Orange domain.

Ontologies

Keywords
   Biological processNotch signaling pathway
Transcription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
   LigandDNA-binding
   Molecular functionDevelopmental protein
Repressor
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processNotch signaling involved in heart development

Inferred by curator PubMed 17259303. Source: BHF-UCL

Notch signaling pathway

Inferred from direct assay PubMed 10964718. Source: UniProtKB

angiogenesis

Inferred from expression pattern PubMed 11866539. Source: UniProtKB

anterior/posterior axis specification

Inferred from electronic annotation. Source: Ensembl

arterial endothelial cell differentiation

Inferred from sequence or structural similarity. Source: BHF-UCL

atrioventricular valve formation

Inferred from sequence or structural similarity. Source: BHF-UCL

cardiac epithelial to mesenchymal transition

Inferred from sequence or structural similarity. Source: BHF-UCL

cardiac septum morphogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

cardiac ventricle morphogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

cellular response to glucocorticoid stimulus

Inferred from electronic annotation. Source: Ensembl

dorsal aorta morphogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

endocardial cushion morphogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

endocardial cushion to mesenchymal transition involved in heart valve formation

Inferred from electronic annotation. Source: Ensembl

epithelial to mesenchymal transition involved in endocardial cushion formation

Inferred from sequence or structural similarity. Source: UniProtKB

heart trabecula formation

Inferred from sequence or structural similarity. Source: BHF-UCL

labyrinthine layer blood vessel development

Inferred from sequence or structural similarity. Source: BHF-UCL

negative regulation of Notch signaling pathway

Inferred from direct assay PubMed 18239137. Source: BHF-UCL

negative regulation of transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 21290414. Source: UniProtKB

negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation

Inferred from direct assay PubMed 18239137. Source: BHF-UCL

negative regulation of transcription regulatory region DNA binding

Inferred from direct assay PubMed 18239137. Source: BHF-UCL

negative regulation of transcription, DNA-templated

Inferred from direct assay Ref.12. Source: UniProtKB

osteoblast development

Inferred from electronic annotation. Source: Ensembl

positive regulation of osteoblast differentiation

Inferred from electronic annotation. Source: Ensembl

positive regulation of transcription from RNA polymerase II promoter

Inferred from sequence or structural similarity. Source: BHF-UCL

pulmonary valve morphogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

regulation of vasculogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

transcription from RNA polymerase II promoter

Inferred from sequence or structural similarity. Source: GOC

umbilical cord morphogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

vasculogenesis

Inferred from electronic annotation. Source: Ensembl

ventricular septum morphogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

ventricular trabecula myocardium morphogenesis

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentcytoplasm

Inferred from sequence or structural similarity. Source: UniProtKB

nucleoplasm

Traceable author statement. Source: Reactome

nucleus

Inferred from sequence or structural similarity. Source: UniProtKB

   Molecular_functionRNA polymerase II core promoter sequence-specific DNA binding transcription factor activity

Inferred from sequence or structural similarity. Source: UniProtKB

microsatellite binding

Inferred from direct assay PubMed 21290414. Source: UniProtKB

protein binding

Inferred from physical interaction Ref.12PubMed 21454491. Source: UniProtKB

protein binding transcription factor activity

Inferred from direct assay PubMed 21290414. Source: UniProtKB

sequence-specific DNA binding transcription factor activity

Inferred from direct assay Ref.12. Source: UniProtKB

transcription factor binding

Non-traceable author statement PubMed 17611704. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9Y5J3-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q9Y5J3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     82-82: K → KQVME

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 304304Hairy/enhancer-of-split related with YRPW motif protein 1
PRO_0000127217

Regions

Domain49 – 10456bHLH
Domain122 – 15837Orange
Region48 – 11770Transcriptional repression and interaction with NCOR1 and SIN3A By similarity
Motif294 – 2974YRPW motif

Natural variations

Alternative sequence821K → KQVME in isoform 2.
VSP_040997

Experimental info

Sequence conflict2371L → F in AAF37297. Ref.5
Sequence conflict2371L → P in BAC03890. Ref.8
Sequence conflict2521P → L in AAF37297. Ref.5

Secondary structure

....... 304
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 1, 1999. Version 1.
Checksum: F130991A99E9CA54

FASTA30432,613
        10         20         30         40         50         60 
MKRAHPEYSS SDSELDETIE VEKESADENG NLSSALGSMS PTTSSQILAR KRRRGIIEKR 

        70         80         90        100        110        120 
RRDRINNSLS ELRRLVPSAF EKQGSAKLEK AEILQMTVDH LKMLHTAGGK GYFDAHALAM 

       130        140        150        160        170        180 
DYRSLGFREC LAEVARYLSI IEGLDASDPL RVRLVSHLNN YASQREAASG AHAGLGHIPW 

       190        200        210        220        230        240 
GTVFGHHPHI AHPLLLPQNG HGNAGTTASP TEPHHQGRLG SAHPEAPALR APPSGSLGPV 

       250        260        270        280        290        300 
LPVVTSASKL SPPLLSSVAS LSAFPFSFGS FHLLSPNALS PSAPTQAANL GKPYRPWGTE 


IGAF 

« Hide

Isoform 2 [UniParc].

Checksum: 99A47C7EE29AC7B8
Show »

FASTA30833,100

References

« Hide 'large scale' references
[1]"Identification and expression of a novel family of bHLH cDNAs related to Drosophila hairy and enhancer of split."
Kokubo H., Lun Y., Johnson R.L.
Biochem. Biophys. Res. Commun. 260:459-465(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Brain.
[2]"Hey genes: a novel subfamily of hairy- and enhancer of split related genes specifically expressed during mouse embryogenesis."
Leimeister C., Externbrinck A., Klamt B., Gessler M.
Mech. Dev. 85:173-177(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[3]"Characterization of the human and mouse HEY1, HEY2, and HEYL genes: cloning, mapping, and mutation screening of a new bHLH gene family."
Steidl C., Leimeister C., Klamt B., Maier M., Nanda I., Dixon M., Clarke R., Schmid M., Gessler M.
Genomics 66:195-203(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[4]"Cardiovascular basic helix loop helix factor 1, a novel transcriptional repressor expressed preferentially in the developing and adult cardiovascular system."
Chin M.T., Maemura K., Fukumoto S., Jain M.K., Layne M.D., Watanabe M., Hsieh C.-M., Lee M.-E.
J. Biol. Chem. 275:6381-6387(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[5]"The HERP repressors, novel partners for HES/hairy in notch signaling."
Iso T., Sartorelli V., Poizat C., Chen T., Sucov H.M., Chung G., Wu H.-Y., Kedes L., Hamamori Y.
Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[6]"Members of the HRT family of basic helix-loop-helix proteins act as transcriptional repressors downstream of Notch signaling."
Nakagawa O., McFadden D.G., Nakagawa M., Yanagisawa H., Hu T., Srivastava D., Olson E.N.
Proc. Natl. Acad. Sci. U.S.A. 97:13655-13660(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, DNA-BINDING.
[7]"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[8]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
Tissue: Placenta.
[9]"DNA sequence and analysis of human chromosome 8."
Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T. expand/collapse author list , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[10]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[11]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Lung.
[12]"Hairy-related transcription factors inhibit GATA-dependent cardiac gene expression through a signal-responsive mechanism."
Kathiriya I.S., King I.N., Murakami M., Nakagawa M., Astle J.M., Gardner K.A., Gerard R.D., Olson E.N., Srivastava D., Nakagawa O.
J. Biol. Chem. 279:54937-54943(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[13]"Crystal structure of hypothetical protein MS0332."
RIKEN structural genomics initiative (RSGI)
Submitted (FEB-2009) to the PDB data bank
Cited for: X-RAY CRYSTALLOGRAPHY (1.9 ANGSTROMS) OF 111-167.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF151522 mRNA. Translation: AAD38967.1.
AF176422 mRNA. Translation: AAD51749.1.
AJ272214 mRNA. Translation: CAB75715.1.
AF232239 mRNA. Translation: AAF37297.1.
AF311883 mRNA. Translation: AAG31156.1.
BT020065 mRNA. Translation: AAV38868.1.
AK092437 mRNA. Translation: BAC03890.1.
AK313271 mRNA. Translation: BAG36080.1.
AC016240 Genomic DNA. No translation available.
CH471068 Genomic DNA. Translation: EAW87066.1.
BC001873 mRNA. Translation: AAH01873.1.
CCDSCCDS43749.1. [Q9Y5J3-2]
CCDS6225.1. [Q9Y5J3-1]
RefSeqNP_001035798.1. NM_001040708.1. [Q9Y5J3-2]
NP_001269780.1. NM_001282851.1.
NP_036390.3. NM_012258.3. [Q9Y5J3-1]
UniGeneHs.234434.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2DB7X-ray1.90A/B111-167[»]
ProteinModelPortalQ9Y5J3.
SMRQ9Y5J3. Positions 39-107, 111-165.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117025. 9 interactions.
IntActQ9Y5J3. 6 interactions.
MINTMINT-1179634.
STRING9606.ENSP00000338272.

PTM databases

PhosphoSiteQ9Y5J3.

Polymorphism databases

DMDM13124298.

Proteomic databases

MaxQBQ9Y5J3.
PaxDbQ9Y5J3.
PRIDEQ9Y5J3.

Protocols and materials databases

DNASU23462.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000337919; ENSP00000338272; ENSG00000164683. [Q9Y5J3-2]
ENST00000354724; ENSP00000346761; ENSG00000164683. [Q9Y5J3-1]
GeneID23462.
KEGGhsa:23462.
UCSCuc003ybl.3. human. [Q9Y5J3-2]
uc003ybm.3. human. [Q9Y5J3-1]

Organism-specific databases

CTD23462.
GeneCardsGC08M080676.
HGNCHGNC:4880. HEY1.
HPAHPA055599.
MIM602953. gene.
neXtProtNX_Q9Y5J3.
PharmGKBPA29258.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG241271.
HOGENOMHOG000286035.
HOVERGENHBG003275.
KOK09091.
OMAADENGNM.
OrthoDBEOG76MK98.
PhylomeDBQ9Y5J3.
TreeFamTF323617.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.
REACT_116125. Disease.

Gene expression databases

ArrayExpressQ9Y5J3.
BgeeQ9Y5J3.
CleanExHS_HEY1.
GenevestigatorQ9Y5J3.

Family and domain databases

Gene3D4.10.280.10. 1 hit.
InterProIPR011598. bHLH_dom.
IPR003650. Orange.
IPR018352. Orange_subgr.
[Graphical view]
PfamPF07527. Hairy_orange. 1 hit.
PF00010. HLH. 1 hit.
[Graphical view]
SMARTSM00353. HLH. 1 hit.
SM00511. ORANGE. 1 hit.
[Graphical view]
SUPFAMSSF47459. SSF47459. 1 hit.
PROSITEPS50888. BHLH. 1 hit.
PS51054. ORANGE. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSHEY1. human.
EvolutionaryTraceQ9Y5J3.
GeneWikiHEY1.
GenomeRNAi23462.
NextBio45771.
PROQ9Y5J3.
SOURCESearch...

Entry information

Entry nameHEY1_HUMAN
AccessionPrimary (citable) accession number: Q9Y5J3
Secondary accession number(s): B2R883 expand/collapse secondary AC list , Q5TZS3, Q8NAM2, Q9NYP4
Entry history
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: November 1, 1999
Last modified: July 9, 2014
This is version 140 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM