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Protein

Transcription cofactor HES-6

Gene

HES6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

Does not bind DNA itself but suppresses both HES1-mediated N box-dependent transcriptional repression and binding of HES1 to E box sequences. Also suppresses HES1-mediated inhibition of the heterodimer formed by ASCL1/MASH1 and TCF3/E47, allowing ASCL1 and TCF3 to up-regulate transcription in its presence. Promotes cell differentiation (By similarity).By similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, Repressor
Biological processDifferentiation, Transcription, Transcription regulation

Enzyme and pathway databases

SIGNORiQ96HZ4

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription cofactor HES-6
Alternative name(s):
C-HAIRY1
Class B basic helix-loop-helix protein 41
Short name:
bHLHb41
Hairy and enhancer of split 6
Gene namesi
Name:HES6Imported
Synonyms:BHLHB41
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000144485.10
HGNCiHGNC:18254 HES6
MIMi610331 gene
neXtProtiNX_Q96HZ4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi55502
OpenTargetsiENSG00000144485
PharmGKBiPA29253

Polymorphism and mutation databases

DMDMi50400609

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001272141 – 224Transcription cofactor HES-6Add BLAST224

Proteomic databases

PaxDbiQ96HZ4
PeptideAtlasiQ96HZ4
PRIDEiQ96HZ4
ProteomicsDBi76797
76798 [Q96HZ4-2]
76799 [Q96HZ4-3]

PTM databases

iPTMnetiQ96HZ4
PhosphoSitePlusiQ96HZ4

Expressioni

Gene expression databases

BgeeiENSG00000144485 Expressed in 135 organ(s), highest expression level in adenohypophysis
CleanExiHS_HES6
ExpressionAtlasiQ96HZ4 baseline and differential
GenevisibleiQ96HZ4 HS

Organism-specific databases

HPAiHPA061763

Interactioni

Subunit structurei

Transcription repression requires formation of a complex with a corepressor protein of the Groucho/TLE family. Interacts with HES1 (By similarity).By similarity

GO - Molecular functioni

Protein-protein interaction databases

BioGridi120682, 9 interactors
ELMiQ96HZ4
IntActiQ96HZ4, 5 interactors
MINTiQ96HZ4
STRINGi9606.ENSP00000272937

Structurei

3D structure databases

ProteinModelPortaliQ96HZ4
SMRiQ96HZ4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini25 – 77bHLHPROSITE-ProRule annotationAdd BLAST53
Domaini96 – 129OrangePROSITE-ProRule annotationAdd BLAST34

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi221 – 224WRPW motif4

Domaini

The C-terminal WRPW motif is a transcriptional repression domain necessary for the interaction with Groucho/TLE family members, transcriptional corepressors recruited to specific target DNA by Hairy-related proteins.By similarity
Has a particular type of basic domain (presence of a helix-interrupting proline) that binds to the N-box (CACNAG), rather than the canonical E-box (CANNTG).

Phylogenomic databases

eggNOGiKOG4304 Eukaryota
ENOG4111F0X LUCA
GeneTreeiENSGT00700000104168
HOGENOMiHOG000236346
HOVERGENiHBG107098
InParanoidiQ96HZ4
KOiK09087
OMAiQSVWRPW
OrthoDBiEOG091G0OZ5
PhylomeDBiQ96HZ4
TreeFamiTF351373

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
IPR003650 Orange_dom
PfamiView protein in Pfam
PF07527 Hairy_orange, 1 hit
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit
PS51054 ORANGE, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96HZ4-1) [UniParc]FASTAAdd to basket

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.

« Hide
        10         20         30         40         50
MAPPAAPGRD RVGREDEDGW ETRGDRKARK PLVEKKRRAR INESLQELRL
60 70 80 90 100
LLAGAEVQAK LENAEVLELT VRRVQGVLRG RAREREQLQA EASERFAAGY
110 120 130 140 150
IQCMHEVHTF VSTCQAIDAT VAAELLNHLL ESMPLREGSS FQDLLGDALA
160 170 180 190 200
GPPRAPGRSG WPAGGAPGSP IPSPPGPGDD LCSDLEEAPE AELSQAPAEG
210 220
PDLVPAALGS LTTAQIARSV WRPW
Length:224
Mass (Da):24,129
Last modified:December 1, 2001 - v1
Checksum:iE361BDDDCACBAD6F
GO
Isoform 2 (identifier: Q96HZ4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     84-224: EREQLQAEAS...QIARSVWRPW → GEWRRGGRGR...EPSARVHAAA

Note: No experimental confirmation available.
Show »
Length:214
Mass (Da):23,483
Checksum:i0E0CA15863669591
GO
Isoform 3 (identifier: Q96HZ4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     57-58: Missing.

Show »
Length:222
Mass (Da):23,902
Checksum:i4DA65A241AAFC073
GO
Isoform 4 (identifier: Q96HZ4-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     71-112: VRRVQGVLRG...CMHEVHTFVS → SASSCRRKRA...PSTLPSLPSS
     113-224: Missing.

Note: No experimental confirmation available. Gene prediction based on EST data.
Show »
Length:112
Mass (Da):12,240
Checksum:i32921239A0C1F118
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B9A070B9A070_HUMAN
Transcription cofactor HES-6
HES6
195Annotation score:
B8ZZP9B8ZZP9_HUMAN
Transcription cofactor HES-6
HES6
94Annotation score:
C9JF41C9JF41_HUMAN
Transcription cofactor HES-6
HES6
144Annotation score:
H7C020H7C020_HUMAN
Transcription cofactor HES-6
HES6
85Annotation score:
H7C1R4H7C1R4_HUMAN
Transcription cofactor HES-6
HES6
16Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti205P → R in BAA96082 (PubMed:10851137).Curated1
Sequence conflicti210 – 211SL → AV in BAA96082 (PubMed:10851137).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_019540218R → Q. Corresponds to variant dbSNP:rs3739061Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04012857 – 58Missing in isoform 3. 1 Publication2
Alternative sequenceiVSP_05561571 – 112VRRVQ…HTFVS → SASSCRRKRASASLPATSSA CTRCTRSCPRARPSTLPSLP SS in isoform 4. CuratedAdd BLAST42
Alternative sequenceiVSP_01115284 – 224EREQL…VWRPW → GEWRRGGRGRRPRAPVTPAR RRTSLPAPLSCRRRGLPPEQ GAPPRLLGEPRPRGPGGLGH AVAAHRAGRGSLPPTLGPRA RAAAGGSERALRCRLHPVHA RGAHVRVHVPGHRRYRRCRA PEPSARVHAAA in isoform 2. 1 PublicationAdd BLAST141
Alternative sequenceiVSP_055616113 – 224Missing in isoform 4. CuratedAdd BLAST112

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB035179 mRNA Translation: BAA96082.1
AF260237 mRNA Translation: AAK51634.1
AK075040 mRNA Translation: BAC11368.1
AK293111 mRNA Translation: BAF85800.1
AC016757 Genomic DNA Translation: AAY24337.1
CH471063 Genomic DNA Translation: EAW71151.1
BC007939 mRNA Translation: AAH07939.1
CCDSiCCDS2527.1 [Q96HZ4-1]
CCDS46556.1 [Q96HZ4-3]
CCDS63180.1 [Q96HZ4-4]
RefSeqiNP_001136325.1, NM_001142853.2 [Q96HZ4-3]
NP_001269363.1, NM_001282434.1 [Q96HZ4-4]
NP_061115.2, NM_018645.5 [Q96HZ4-1]
UniGeneiHs.42949

Genome annotation databases

EnsembliENST00000272937; ENSP00000272937; ENSG00000144485 [Q96HZ4-1]
ENST00000409002; ENSP00000387155; ENSG00000144485 [Q96HZ4-3]
ENST00000409160; ENSP00000387215; ENSG00000144485 [Q96HZ4-2]
ENST00000409574; ENSP00000387008; ENSG00000144485 [Q96HZ4-4]
GeneIDi55502
KEGGihsa:55502
UCSCiuc002vxz.4 human [Q96HZ4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB035179 mRNA Translation: BAA96082.1
AF260237 mRNA Translation: AAK51634.1
AK075040 mRNA Translation: BAC11368.1
AK293111 mRNA Translation: BAF85800.1
AC016757 Genomic DNA Translation: AAY24337.1
CH471063 Genomic DNA Translation: EAW71151.1
BC007939 mRNA Translation: AAH07939.1
CCDSiCCDS2527.1 [Q96HZ4-1]
CCDS46556.1 [Q96HZ4-3]
CCDS63180.1 [Q96HZ4-4]
RefSeqiNP_001136325.1, NM_001142853.2 [Q96HZ4-3]
NP_001269363.1, NM_001282434.1 [Q96HZ4-4]
NP_061115.2, NM_018645.5 [Q96HZ4-1]
UniGeneiHs.42949

3D structure databases

ProteinModelPortaliQ96HZ4
SMRiQ96HZ4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120682, 9 interactors
ELMiQ96HZ4
IntActiQ96HZ4, 5 interactors
MINTiQ96HZ4
STRINGi9606.ENSP00000272937

PTM databases

iPTMnetiQ96HZ4
PhosphoSitePlusiQ96HZ4

Polymorphism and mutation databases

DMDMi50400609

Proteomic databases

PaxDbiQ96HZ4
PeptideAtlasiQ96HZ4
PRIDEiQ96HZ4
ProteomicsDBi76797
76798 [Q96HZ4-2]
76799 [Q96HZ4-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000272937; ENSP00000272937; ENSG00000144485 [Q96HZ4-1]
ENST00000409002; ENSP00000387155; ENSG00000144485 [Q96HZ4-3]
ENST00000409160; ENSP00000387215; ENSG00000144485 [Q96HZ4-2]
ENST00000409574; ENSP00000387008; ENSG00000144485 [Q96HZ4-4]
GeneIDi55502
KEGGihsa:55502
UCSCiuc002vxz.4 human [Q96HZ4-1]

Organism-specific databases

CTDi55502
DisGeNETi55502
EuPathDBiHostDB:ENSG00000144485.10
GeneCardsiHES6
HGNCiHGNC:18254 HES6
HPAiHPA061763
MIMi610331 gene
neXtProtiNX_Q96HZ4
OpenTargetsiENSG00000144485
PharmGKBiPA29253
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4304 Eukaryota
ENOG4111F0X LUCA
GeneTreeiENSGT00700000104168
HOGENOMiHOG000236346
HOVERGENiHBG107098
InParanoidiQ96HZ4
KOiK09087
OMAiQSVWRPW
OrthoDBiEOG091G0OZ5
PhylomeDBiQ96HZ4
TreeFamiTF351373

Enzyme and pathway databases

SIGNORiQ96HZ4

Miscellaneous databases

ChiTaRSiHES6 human
GeneWikiiHES6
GenomeRNAii55502
PROiPR:Q96HZ4
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000144485 Expressed in 135 organ(s), highest expression level in adenohypophysis
CleanExiHS_HES6
ExpressionAtlasiQ96HZ4 baseline and differential
GenevisibleiQ96HZ4 HS

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
IPR003650 Orange_dom
PfamiView protein in Pfam
PF07527 Hairy_orange, 1 hit
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit
PS51054 ORANGE, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiHES6_HUMAN
AccessioniPrimary (citable) accession number: Q96HZ4
Secondary accession number(s): A8KAP6
, B8ZZA9, Q53SN9, Q8N2J2, Q96T93, Q9P2S3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: December 1, 2001
Last modified: November 7, 2018
This is version 144 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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