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Protein

Hairy and enhancer of split-related protein HELT

Gene

HELT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Molecular functionDNA-binding, Repressor
Biological processTranscription, Transcription regulation

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

EuPathDBiHostDB:ENSG00000187821.8
HGNCiHGNC:33783 HELT
MIMi617546 gene
neXtProtiNX_A6NFD8

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

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
ProteomicsDBi1043

PTM databases

PhosphoSitePlusiA6NFD8

Expressioni

Gene expression databases

BgeeiENSG00000187821 Expressed in 19 organ(s), highest expression level in adult mammalian kidney
CleanExiHS_HELT
ExpressionAtlasiA6NFD8 baseline and differential

Organism-specific databases

HPAiHPA036189

Interactioni

Subunit structurei

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

GO - Molecular functioni

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

Phylogenomic databases

GeneTreeiENSGT00700000104130
HOGENOMiHOG000082510
HOVERGENiHBG054492
InParanoidiA6NFD8
TreeFamiTF323617

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 (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WSW0A0A087WSW0_HUMAN
Hairy and enhancer of split-related...
HELT
327Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04954062L → V. Corresponds to variant dbSNP:rs1078461Ensembl.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

Similar proteinsi

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
ProteomicsDBi1043

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
EuPathDBiHostDB:ENSG00000187821.8
GeneCardsiHELT
HGNCiHGNC:33783 HELT
HPAiHPA036189
MIMi617546 gene
neXtProtiNX_A6NFD8
OpenTargetsiENSG00000187821
PharmGKBiPA162390819
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00700000104130
HOGENOMiHOG000082510
HOVERGENiHBG054492
InParanoidiA6NFD8
TreeFamiTF323617

Miscellaneous databases

GenomeRNAii391723
PROiPR:A6NFD8
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000187821 Expressed in 19 organ(s), highest expression level in adult mammalian kidney
CleanExiHS_HELT
ExpressionAtlasiA6NFD8 baseline and differential

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 nameiHELT_HUMAN
AccessioniPrimary (citable) accession number: A6NFD8
Secondary accession number(s): B2RTS5, B7ZMI7, B7ZMI8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 2, 2008
Last sequence update: October 1, 2014
Last modified: November 7, 2018
This is version 98 of the entry and version 2 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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