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A6NFD8

- HELT_HUMAN

UniProt

A6NFD8 - HELT_HUMAN

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Protein

Hairy and enhancer of split-related protein HELT

Gene

HELT

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. DNA binding Source: UniProtKB-KW
  2. sequence-specific DNA binding transcription factor activity Source: Ensembl

GO - Biological processi

  1. central nervous system development Source: Ensembl
  2. GABAergic neuron differentiation in basal ganglia Source: Ensembl
  3. multicellular organismal aging Source: Ensembl
  4. multicellular organism growth Source: Ensembl
  5. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
  6. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  7. post-embryonic development Source: Ensembl
  8. suckling behavior Source: Ensembl
  9. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

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
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:33783. HELT.

Subcellular locationi

Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
  2. transcription factor complex Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162390819.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 242242Hairy and enhancer of split-related protein HELTPRO_0000349378Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei48 – 481N6-acetyllysineBy similarity

Keywords - PTMi

Acetylation

Proteomic databases

PaxDbiA6NFD8.
PRIDEiA6NFD8.

PTM databases

PhosphoSiteiA6NFD8.

Expressioni

Gene expression databases

BgeeiA6NFD8.
CleanExiHS_HELT.
ExpressionAtlasiA6NFD8. baseline.
GenevestigatoriA6NFD8.

Organism-specific databases

HPAiHPA036188.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi134034. 1 interaction.
STRINGi9606.ENSP00000343464.

Structurei

3D structure databases

ProteinModelPortaliA6NFD8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini10 – 6556bHLHPROSITE-ProRule annotationAdd
BLAST
Domaini87 – 12236OrangePROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi132 – 242111Pro-richAdd
BLAST

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

eggNOGiNOG330980.
GeneTreeiENSGT00700000104130.
HOGENOMiHOG000082510.
HOVERGENiHBG054492.
InParanoidiA6NFD8.
OMAiPVSHKVI.
OrthoDBiEOG72G183.
PhylomeDBiA6NFD8.
TreeFamiTF323617.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
IPR003650. Orange.
[Graphical view]
PfamiPF07527. Hairy_orange. 1 hit.
PF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 2 hits.
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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti62 – 621L → V.
Corresponds to variant rs1078461 [ dbSNP | Ensembl ].
VAR_049540

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei77 – 771Missing in isoform 2. 1 PublicationVSP_056737

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
UniGeneiHs.531242.

Genome annotation databases

EnsembliENST00000505610; ENSP00000422140; ENSG00000187821. [A6NFD8-4]
ENST00000515777; ENSP00000426033; ENSG00000187821. [A6NFD8-3]
KEGGihsa:391723.
UCSCiuc011ckq.2. human. [A6NFD8-3]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
UniGenei Hs.531242.

3D structure databases

ProteinModelPortali A6NFD8.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 134034. 1 interaction.
STRINGi 9606.ENSP00000343464.

PTM databases

PhosphoSitei A6NFD8.

Proteomic databases

PaxDbi A6NFD8.
PRIDEi A6NFD8.

Protocols and materials databases

DNASUi 391723.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000505610 ; ENSP00000422140 ; ENSG00000187821 . [A6NFD8-4 ]
ENST00000515777 ; ENSP00000426033 ; ENSG00000187821 . [A6NFD8-3 ]
KEGGi hsa:391723.
UCSCi uc011ckq.2. human. [A6NFD8-3 ]

Organism-specific databases

CTDi 391723.
GeneCardsi GC04P185940.
HGNCi HGNC:33783. HELT.
HPAi HPA036188.
neXtProti NX_A6NFD8.
PharmGKBi PA162390819.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG330980.
GeneTreei ENSGT00700000104130.
HOGENOMi HOG000082510.
HOVERGENi HBG054492.
InParanoidi A6NFD8.
OMAi PVSHKVI.
OrthoDBi EOG72G183.
PhylomeDBi A6NFD8.
TreeFami TF323617.

Miscellaneous databases

GenomeRNAii 391723.
NextBioi 104816.
PROi A6NFD8.

Gene expression databases

Bgeei A6NFD8.
CleanExi HS_HELT.
ExpressionAtlasi A6NFD8. baseline.
Genevestigatori A6NFD8.

Family and domain databases

Gene3Di 4.10.280.10. 1 hit.
InterProi IPR011598. bHLH_dom.
IPR003650. Orange.
[Graphical view ]
Pfami PF07527. Hairy_orange. 1 hit.
PF00010. HLH. 1 hit.
[Graphical view ]
SMARTi SM00353. HLH. 1 hit.
[Graphical view ]
SUPFAMi SSF47459. SSF47459. 2 hits.
PROSITEi PS50888. BHLH. 1 hit.
PS51054. ORANGE. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  1. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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] (ISOFORMS 1 AND 2).

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: October 29, 2014
This is version 70 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

External Data

Dasty 3