Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Hairy and enhancer of split-related protein HELT

Gene

HELT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

Transcriptional repressor which binds preferentially to the canonical E box sequence 5'-CACGCG-3'.By similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:G66-33451-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Hairy and enhancer of split-related protein HELT
Alternative name(s):
HES/HEY-like transcription factor
Gene namesi
Name:HELT
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:33783. HELT.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi391723.
OpenTargetsiENSG00000187821.
PharmGKBiPA162390819.

Polymorphism and mutation databases

BioMutaiHELT.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003493781 – 242Hairy and enhancer of split-related protein HELTAdd BLAST242

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei48N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

PRIDEiA6NFD8.

PTM databases

PhosphoSitePlusiA6NFD8.

Expressioni

Gene expression databases

BgeeiENSG00000187821.
CleanExiHS_HELT.
ExpressionAtlasiA6NFD8. baseline and differential.

Organism-specific databases

HPAiHPA036189.

Interactioni

Subunit structurei

Self-associates. Interacts with HES5 and HEY2 (By similarity).By similarity

Protein-protein interaction databases

BioGridi134034. 1 interactor.

Structurei

3D structure databases

ProteinModelPortaliA6NFD8.
SMRiA6NFD8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini10 – 65bHLHPROSITE-ProRule annotationAdd BLAST56
Domaini87 – 122OrangePROSITE-ProRule annotationAdd BLAST36

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi132 – 242Pro-richAdd BLAST111

Sequence similaritiesi

Belongs to the HEY family.Curated
Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation
Contains 1 Orange domain.PROSITE-ProRule annotation

Phylogenomic databases

GeneTreeiENSGT00700000104130.
HOGENOMiHOG000082510.
HOVERGENiHBG054492.
InParanoidiA6NFD8.
TreeFamiTF323617.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
IPR003650. Orange_dom.
[Graphical view]
PfamiPF07527. Hairy_orange. 1 hit.
PF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
PS51054. ORANGE. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: A6NFD8-3) [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
MSDKLKERKR TPVSHKVIEK RRRDRINRCL NELGKTVPMA LAKQSSGKLE
60 70 80 90 100
KAEILEMTVQ YLRALHSADF PRGREKAELL AEFANYFHYG YHECMKNLVH
110 120 130 140 150
YLTTVERMET KDTKYARILA FLQSKARLGA EPAFPPLGSL PEPDFSYQLH
160 170 180 190 200
PAGPEFAGHS PGEAAVFPQG SGAGPFPWPP GAARSPALPY LPSAPVPLAS
210 220 230 240
PAQQHSPFLT PVQGLDRHYL NLIGHAHPNA LNLHTPQHPP VL
Note: No experimental confirmation available.
Length:242
Mass (Da):26,913
Last modified:October 1, 2014 - v2
Checksum:iA5BC17B4AFE5002A
GO
Isoform 2 (identifier: A6NFD8-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     77-77: Missing.

Note: No experimental confirmation available.
Show »
Length:241
Mass (Da):26,842
Checksum:i6DC5216FD395A767
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04954062L → V.Corresponds to variant rs1078461dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05673777Missing in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC093824 Genomic DNA. No translation available.
CH471056 Genomic DNA. Translation: EAX04657.1.
BC140795 mRNA. Translation: AAI40796.1.
BC144567 mRNA. Translation: AAI44568.1.
BC144569 mRNA. Translation: AAI44570.1.
CCDSiCCDS75214.1. [A6NFD8-3]
CCDS75215.1. [A6NFD8-4]
RefSeqiNP_001287710.1. NM_001300781.1. [A6NFD8-3]
NP_001287711.1. NM_001300782.1. [A6NFD8-4]
UniGeneiHs.531242.

Genome annotation databases

EnsembliENST00000505610; ENSP00000422140; ENSG00000187821. [A6NFD8-4]
ENST00000515777; ENSP00000426033; ENSG00000187821. [A6NFD8-3]
GeneIDi391723.
KEGGihsa:391723.
UCSCiuc003ixa.3. human. [A6NFD8-3]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC093824 Genomic DNA. No translation available.
CH471056 Genomic DNA. Translation: EAX04657.1.
BC140795 mRNA. Translation: AAI40796.1.
BC144567 mRNA. Translation: AAI44568.1.
BC144569 mRNA. Translation: AAI44570.1.
CCDSiCCDS75214.1. [A6NFD8-3]
CCDS75215.1. [A6NFD8-4]
RefSeqiNP_001287710.1. NM_001300781.1. [A6NFD8-3]
NP_001287711.1. NM_001300782.1. [A6NFD8-4]
UniGeneiHs.531242.

3D structure databases

ProteinModelPortaliA6NFD8.
SMRiA6NFD8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi134034. 1 interactor.

PTM databases

PhosphoSitePlusiA6NFD8.

Polymorphism and mutation databases

BioMutaiHELT.

Proteomic databases

PRIDEiA6NFD8.

Protocols and materials databases

DNASUi391723.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000505610; ENSP00000422140; ENSG00000187821. [A6NFD8-4]
ENST00000515777; ENSP00000426033; ENSG00000187821. [A6NFD8-3]
GeneIDi391723.
KEGGihsa:391723.
UCSCiuc003ixa.3. human. [A6NFD8-3]

Organism-specific databases

CTDi391723.
DisGeNETi391723.
GeneCardsiHELT.
HGNCiHGNC:33783. HELT.
HPAiHPA036189.
neXtProtiNX_A6NFD8.
OpenTargetsiENSG00000187821.
PharmGKBiPA162390819.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00700000104130.
HOGENOMiHOG000082510.
HOVERGENiHBG054492.
InParanoidiA6NFD8.
TreeFamiTF323617.

Enzyme and pathway databases

BioCyciZFISH:G66-33451-MONOMER.

Miscellaneous databases

GenomeRNAii391723.
PROiA6NFD8.

Gene expression databases

BgeeiENSG00000187821.
CleanExiHS_HELT.
ExpressionAtlasiA6NFD8. baseline and differential.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
IPR003650. Orange_dom.
[Graphical view]
PfamiPF07527. Hairy_orange. 1 hit.
PF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
PS51054. ORANGE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiHELT_HUMAN
AccessioniPrimary (citable) accession number: A6NFD8
Secondary accession number(s): B2RTS5, B7ZMI7, B7ZMI8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 2, 2008
Last sequence update: October 1, 2014
Last modified: November 2, 2016
This is version 88 of the entry and version 2 of the sequence. [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 4
    Human chromosome 4: 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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.