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A6NFD8

- HELT_HUMAN

UniProt

A6NFD8 - HELT_HUMAN

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
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    • History
      Entry version 69 (01 Oct 2014)
      Sequence version 2 (01 Oct 2014)
      Previous versions | rss
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    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. post-embryonic development Source: Ensembl
    7. suckling behavior Source: Ensembl
    8. transcription, DNA-templated Source: UniProtKB-KW

    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-SubCell
    2. transcription factor complex Source: Ensembl

    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

    ArrayExpressiA6NFD8.
    BgeeiA6NFD8.
    CleanExiHS_HELT.
    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.
    SMRiA6NFD8. Positions 53-153.
    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.
    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

    MSDKLKERKR TPVSHKVIEK RRRDRINRCL NELGKTVPMA LAKQSSGKLE    50
    KAEILEMTVQ YLRALHSADF PRGREKAELL AEFANYFHYG YHECMKNLVH 100
    YLTTVERMET KDTKYARILA FLQSKARLGA EPAFPPLGSL PEPDFSYQLH 150
    PAGPEFAGHS PGEAAVFPQG SGAGPFPWPP GAARSPALPY LPSAPVPLAS 200
    PAQQHSPFLT PVQGLDRHYL NLIGHAHPNA LNLHTPQHPP VL 242

    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.
    RefSeqiNP_001025058.1. NM_001029887.1.
    XP_005263046.1. XM_005262989.1.
    XP_005263047.1. XM_005262990.1.
    UniGeneiHs.531242.

    Genome annotation databases

    EnsembliENST00000515777; ENSP00000426033; ENSG00000187821.
    GeneIDi391723.
    KEGGihsa:391723.
    UCSCiuc003ixa.3. human.
    uc011cko.2. human.
    uc011ckq.2. human.

    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 .
    RefSeqi NP_001025058.1. NM_001029887.1.
    XP_005263046.1. XM_005262989.1.
    XP_005263047.1. XM_005262990.1.
    UniGenei Hs.531242.

    3D structure databases

    ProteinModelPortali A6NFD8.
    SMRi A6NFD8. Positions 53-153.
    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 ENST00000515777 ; ENSP00000426033 ; ENSG00000187821 .
    GeneIDi 391723.
    KEGGi hsa:391723.
    UCSCi uc003ixa.3. human.
    uc011cko.2. human.
    uc011ckq.2. human.

    Organism-specific databases

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

    Phylogenomic databases

    eggNOGi NOG330980.
    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

    ArrayExpressi A6NFD8.
    Bgeei A6NFD8.
    CleanExi HS_HELT.
    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 1, 2014
    This is version 69 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