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HEY1

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From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens

HEY1

Available structures

PDB

Ortholog search:PDBe RCSB

List of PDB id codes
2DB7

Identifiers

Aliases

HEY1, BHLHb31, CHF2, HERP2, HESR1, HRT-1, OAF1, hHRT1, hes related family bHLH transcription factor with YRPW motif 1, NERP2

External IDs

OMIM:602953;MGI:1341800;HomoloGene:7756;GeneCards:HEY1;OMA:HEY1 - orthologs

Gene location (Human)

Chr.	Chromosome 8 (human)^[1]

Band	8q21.13	Start	79,762,371bp^[1]
Band	8q21.13	End	79,767,857bp^[1]

Gene location (Mouse)

Chr.	Chromosome 3 (mouse)^[2]

Band	3 A1\|3 2.15 cM	Start	8,728,419bp^[2]
Band	3 A1\|3 2.15 cM	End	8,732,316bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

endothelial cell

Brodmann area 23

optic nerve

middle temporal gyrus

dorsal motor nucleus of vagus nerve

spinal ganglia

trigeminal ganglion

internal globus pallidus

visceral pleura

mucosa of paranasal sinus

Top expressed in

pharyngeal groove

molar

ventricular zone

aortic valve

right lung lobe

nasal epithelium

olfactory epithelium

renal corpuscle

tail of embryo

left lung

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	microsatellite binding DNA binding protein dimerization activity DNA-binding transcription factor activity transcription factor binding RNA polymerase II general transcription initiation factor activity protein binding DNA-binding transcription factor activity, RNA polymerase II-specific RNA polymerase II transcription regulatory region sequence-specific DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific DNA-binding transcription repressor activity, RNA polymerase II-specific transcription corepressor activity sequence-specific DNA binding sequence-specific double-stranded DNA binding
Cellular component	cytoplasm nucleoplasm nucleus
Biological process	dorsal aorta morphogenesis pulmonary valve morphogenesis negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation regulation of transcription, DNA-templated heart trabecula formation regulation of vasculogenesis cardiac septum morphogenesis ventricular septum morphogenesis labyrinthine layer blood vessel development negative regulation of transcription by RNA polymerase II transcription, DNA-templated endocardial cushion morphogenesis multicellular organism development atrioventricular valve formation arterial endothelial cell differentiation cellular response to glucocorticoid stimulus umbilical cord morphogenesis negative regulation of transcription regulatory region DNA binding angiogenesis negative regulation of transcription, DNA-templated cardiac ventricle morphogenesis positive regulation of transcription by RNA polymerase II negative regulation of Notch signaling pathway cardiac epithelial to mesenchymal transition Notch signaling involved in heart development Notch signaling pathway positive regulation of transcription, DNA-templated blood vessel development development of the heart cell differentiation regulation of neurogenesis positive regulation of gene expression negative regulation of biomineral tissue development anterior/posterior pattern specification negative regulation of neuron differentiation circulatory system development
Sources:Amigo /QuickGO

Orthologs

Species

Human

Mouse

Entrez


23462


15213

Ensembl


ENSG00000164683


ENSMUSG00000040289

UniProt


Q9Y5J3


Q9WV93 Q9QUM5

RefSeq (mRNA)


NM_012258 NM_001040708 NM_001282851


NM_010423

RefSeq (protein)


NP_001035798 NP_001269780 NP_036390


NP_034553

Location (UCSC)

Chr 8: 79.76 – 79.77 Mb

Chr 3: 8.73 – 8.73 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Hairy/enhancer-of-split related with YRPW motif protein 1 is aprotein that in humans is encoded by theHEY1gene.^[5]^[6]^[7]

Function

[edit]

This gene encodes anuclear protein belonging to the hairy and enhancer of split-related (HESR) family ofbasic helix-loop-helix (bHLH)-typetranscriptional repressors.Expression of this gene is induced by theNotch andc-Jun signal transduction pathways. Two similar and redundant genes in mouse are required for embryoniccardiovascular development, and are also implicated inneurogenesis andsomitogenesis. Alternative splicing results in multipletranscript variants.^[7]

Role in disease

[edit]

HEY1::NCOA2 fusion which may arise via a small deletion del(8)(q13.3q21.1) is highly specific for the diagnosis of mesenchymal chondrosarcoma.^[8]

References

[edit]

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000164683 –Ensembl, May 2017
^^a ^b ^cGRCm38: Ensembl release 89: ENSMUSG00000040289 –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.
^Leimeister C, Externbrink A, Klamt B, Gessler M (Jul 1999)."Hey genes: a novel subfamily of hairy- and Enhancer of split related genes specifically expressed during mouse embryogenesis".Mechanisms of Development.85 (1–2):173–7.doi:10.1016/S0925-4773(99)00080-5.PMID 10415358.S2CID 17342136.
^Kokubo H, Lun Y, Johnson RL (Jul 1999). "Identification and expression of a novel family of bHLH cDNAs related to Drosophila hairy and enhancer of split".Biochemical and Biophysical Research Communications.260 (2):459–65.Bibcode:1999BBRC..260..459K.doi:10.1006/bbrc.1999.0880.PMID 10403790.
^^a ^b"Entrez Gene: HEY1 hairy/enhancer-of-split related with YRPW motif 1".
^Soft tissue and bone tumours (5th ed.). Lyon (France):International Agency for Research on Cancer (IARC). 2020.ISBN 978-92-832-4502-5.

External links

[edit]

HEY1+protein,+human at the U.S. National Library of MedicineMedical Subject Headings (MeSH)
FactorBook HEY1

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.

v t e PDB gallery
2db7: Crystal structure of hypothetical protein MS0332

Transcription factors andintracellular receptors

(1) Basic domains

(1.1) Basicleucine zipper (bZIP)

Activating transcription factor
- AATF
- 1
- 2
- 3
- 4
- 5
- 6
- 7
AP-1
- c-Fos
- FOSB
- FOSL1
- FOSL2
- JDP2
- c-Jun
- JUNB
- JunD
BACH
- 1
- 2
BATF
BLZF1
C/EBP
- α
- β
- γ
- δ
- ε
- ζ
CREB
- 1
- 3
- L1
CREM
DBP
DDIT3
GABPA
GCN4
HLF
MAF
- B
- sMaf
  - F
  - G
  - K
NFE
- 2
- L1
- L2
- L3
NFIL3
NRL
NRF
- 1
- 2
- 3
XBP1

(1.2) Basic helix-loop-helix (bHLH)

Group A	AS-C ASCL1 ASCL2 ATOH1 HAND 1 2 MESP2 Myogenic regulatory factors MyoD Myogenin MYF5 MYF6 NeuroD 1 2 Neurogenins 1 2 3 OLIG 1 2 Paraxis TCF15 Scleraxis SLC LYL1 TAL 1 2 Twist
Group B	FIGLA Myc c-Myc l-Myc n-Myc MXD4 TCF4
Group C bHLH-PAS	AhR AHRR ARNT ARNTL ARNTL2 CLOCK HIF 1A EPAS1 3A NPAS 1 2 3 PER 1 2 3 Period SIM 1 2
Group D	BHLH 2 3 9 Pho4 ID 1 2 3 4
Group E	HES 1 2 3 4 5 6 7 HEY 1 2 L
Group F bHLH-COE	EBF1

(1.3)bHLH-ZIP

(1.4) NF-1

NFI
- A
- B
- C
- X
SMAD
- R-SMAD
  - 1
  - 2
  - 3
  - 5
  - 9
- I-SMAD
  - 6
  - 7
- 4)

(1.5) RF-X

RFX
- 1
- 2
- 3
- 4
- 5
- 6
- ANK

(1.6) Basic helix-span-helix (bHSH)

AP-2
- α
- β
- γ
- δ
- ε

(2)Zinc finger DNA-binding domains

(2.1)Nuclear receptor(Cys₄)

subfamily 1	Thyroid hormone α β CAR FXR LXR α β PPAR α β/δ γ PXR RAR α β γ ROR α β γ Rev-ErbA α β VDR
subfamily 2	COUP-TF (I II Ear-2 HNF4 α γ PNR RXR α β γ Testicular receptor 2 4 TLX
subfamily 3	Steroid hormone Androgen Estrogen α β Glucocorticoid Mineralocorticoid Progesterone Estrogen related α β γ
subfamily 4	NUR NGFIB NOR1 NURR1
subfamily 5	LRH-1 SF1
subfamily 6	GCNF
subfamily 0	DAX1 SHP

(2.2) Other Cys₄

GATA
- 1
- 2
- 3
- 4
- 5
- 6
MTA
- 1
- 2
- 3
TRPS1

(2.3) Cys₂His₂

General transcription factors
- TFIIA
- TFIIB
- TFIID
- TFIIE
  - 1
  - 2
- TFIIF
- 1
- 2
  - TFIIH
  - 1
  - 2
  - 4
  - 2I
  - 3A
  - 3C1
  - 3C2

ATBF1
BCL
- 6
- 11A
- 11B
CTCF
E4F1
EGR
- 1
- 2
- 3
- 4
ERV3
GFI1
GLI family
- 1
- 2
- 3
- REST
- S1
- S2
- YY1
HIC
- 1
- 2
HIVEP
- 1
- 2
- 3
IKZF
- 1
- 2
- 3
ILF
- 2
- 3
Sp/KLF family
- KLF
  - 1
  - 2
  - 3
  - 4
  - 5
  - 6
  - 7
  - 8
  - 9
  - 10
  - 11
  - 12
  - 13
  - 14
  - 15
  - 17
- SP
  - 1
  - 2
  - 4
  - 7
  - 8
MTF1
MYT1
OSR1
PRDM9
SALL
- 1
- 2
- 3
- 4
TSHZ3
WT1
Zbtb7
- 7A
- 7B
ZBTB
- 11
- 16
- 17
- 20
- 21
- 32
- 33
- 40
zinc finger
- 3
- 7
- 9
- 10
- 19
- 22
- 24
- 33B
- 34
- 35
- 41
- 43
- 44
- 51
- 74
- 143
- 146
- 148
- 165
- 202
- 217
- 219
- 238
- 239
- 259
- 267
- 268
- 281
- 300
- 318
- 330
- 346
- 350
- 365
- 366
- 384
- 423
- 451
- 452
- 471
- 593
- 638
- 644
- 649
- 655
- 804A

(2.4) Cys₆

HIVEP1

(2.5) Alternating composition

AIRE
DIDO1
GRLF1
ING
- 1
- 2
- 4
JARID
- 1A
- 1B
- 1C
- 1D
- 2
JMJD1B

(2.6) WRKY

WRKY

(3)Helix-turn-helixdomains

(3.1)Homeodomain

Antennapedia
ANTP class

protoHOX Hox-like	ParaHox Gsx 1 2 Xlox PDX1 Cdx 1 2 4 extended Hox:Evx1 Evx2 MEOX1 MEOX2 Homeobox A1 A2 A3 A4 A5 A7 A9 A10 A11 A13 B1 B2 B3 B4 B5 B6 B7 B8 B9 B13 C4 C5 C6 C8 C9 C10 C11 C12 C13 D1 D3 D4 D8 D9 D10 D11 D12 D13 GBX1 GBX2 MNX1
metaHOX NK-like	BARHL1 BARHL2 BARX1 BARX2 BSX DBX 1 2 DLX 1 2 3 4 5 6 EMX 1 2 EN 1 2 HHEX HLX LBX1 LBX2 MSX 1 2 NANOG NKX 2-1 2-2 2-3 2-5 3-1 3-2 HMX1 HMX2 HMX3 6-1 6-2 NOTO TLX1 TLX2 TLX3 VAX1 VAX2

other

ARX
CRX
CUTL1
FHL
- 1
- 2
- 3
HESX1
HOPX
LMX
- 1A
- 1B
NOBOX
TALE
- IRX
  - 1
  - 2
  - 3
  - 4
  - 5
  - 6
  - MKX
- MEIS
  - 1
  - 2
- PBX
  - 1
  - 2
  - 3
- PKNOX
  - 1
  - 2
- SIX
  - 1
  - 2
  - 3
  - 4
  - 5
PHF
- 1
- 3
- 6
- 8
- 10
- 16
- 17
- 20
- 21A
POU domain
- PIT-1
- BRN-3:A
- B
- C
- Octamer transcription factor:1
- 2
- 3/4
- 6
- 7
- 11
SATB2
ZEB
- 1
- 2

(3.2) Paired box

PAX
- 1
- 2
- 3
- 4
- 5
- 6
- 7
- 8
- 9
PRRX
- 1
- 2
PROP1
PHOX
- 2A
- 2B
RAX
SHOX
SHOX2
VSX1
VSX2
Bicoid
- GSC
- BICD2
- OTX
  - 1
  - 2
- PITX
  - 1
  - 2
  - 3

(3.3)Fork head /winged helix

E2F
- 1
- 2
- 3
- 4
- 5
FOX proteins
- A1
- A2
- A3
- B1
- B2
- C1
- C2
- D1
- D2
- D3
- D4
- D4L1
- D4L3
- D4L4
- D4L5
- D4L6
- E1
- E3
- F1
- F2
- G1
- H1
- I1
- I2
- I3
- J1
- J2
- J3
- K1
- K2
- L1
- L2
- M1
- N1
- N2
- N3
- N4
- O1
- O3
- O4
- O6
- P1
- P2
- P3
- P4
- Q1
- R1
- R2
- S1

(3.4)Heat shock factors

HSF
- 1
- 2
- 4

(3.5) Tryptophan clusters

ELF
- 2
- 4
- 5
EHF
ELK
- 1
- 3
- 4
ERF
ETS
- 1
- 2
- ERG
- SPIB
ETV
- 1
- 4
- 5
- 6
FLI1
Interferon regulatory factors
- 1
- 2
- 3
- 4
- 5
- 6
- 7
- 8
MYB
MYBL2

(3.6) TEA domain

transcriptional enhancer factor
- 1
- 2
- 3
- 4

(4)β-Scaffold factors with minor groove contacts

(4.1)Rel homology region	NF-κB NFKB1 NFKB2 REL RELA RELB NFAT C1 C2 C3 C4 5
(4.2)STAT	STAT 1 2 3 4 5 6
(4.3) p53-like	p53 p63 p73 family p53 TP63 p73 TBX 1 2 3 5 19 21 22 TBR1 TBR2 TFT MYRF
(4.4)MADS box	Mef2 A B C D SRF
(4.6)TATA-binding proteins	TBP TBPL1
(4.7)High-mobility group	BBX HMGB 1 2 3 4 HMGN 1 2 3 4 HNF 1A 1B SOX 1 2 3 4 5 6 8 9 10 11 12 13 14 15 17 18 21 SRY SSRP1 TCF/LEF TCF 1 3 4 LEF1 TOX 1 2 3 4
(4.9) Grainyhead	TFCP2
(4.10) Cold-shock domain	CSDA YBX1
(4.11) Runt	CBF CBFA2T2 CBFA2T3 RUNX1 RUNX2 RUNX3 RUNX1T1

(0) Other transcription factors

(0.2) HMGI(Y)	HMGA 1 2 HBP1
(0.3)Pocket domain	Rb RBL1 RBL2
(0.5)AP-2/EREBP-related factors	Apetala 2 EREBP B3
(0.6) Miscellaneous	ARID 1A 1B 2 3A 3B 4A CAP IFI 16 35 MLL 2 3 T1 MNDA NFY A B C Rho/Sigma

see alsotranscription factor/coregulator deficiencies

This article on agene on humanchromosome 8 is astub. You can help Wikipedia byexpanding it.

Retrieved from "https://en.wikipedia.org/w/index.php?title=HEY1&oldid=1321964885"

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Function

Role in disease

References

Further reading

External links