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Entry version 114 (22 Apr 2020)
Sequence version 2 (10 Jun 2008)
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Protein

Class A basic helix-loop-helix protein 9

Gene

BHLHA9

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Transcription factor, which play a role in limb development. Is an essential player in the regulatory network governing transcription of genes implicated in limb morphogenesis.2 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processTranscription, Transcription regulation

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Class A basic helix-loop-helix protein 9
Short name:
bHLHa9
Alternative name(s):
Class F basic helix-loop-helix factor 42
Short name:
bHLHf42
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:BHLHA9
Synonyms:BHLHF42
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:35126 BHLHA9

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
615416 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q7RTU4

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Split-hand/foot malformation with long bone deficiency 3 (SHFLD3)1 Publication
Disease susceptibility may be associated with variations affecting the gene represented in this entry. A copy number variation (CNV) resulting in BHLHA9 duplications is a necessary but not sufficient susceptibility factor for Split-hand/foot malformation with long bone deficiency, a highly variable phenotype with reduced penetrance, particularly in females (PubMed:22147889).1 Publication
Disease descriptionA disease characterized by the association of split-hand/foot malformation with long bone deficiency involving the tibia and fibula. Split-hand/foot malformation is a limb malformation involving the central rays of the autopod. Phenotypic expression is extremely variable between and within families, and even between limbs of a single patient, ranging from syndactyly and oligodactyly to the most severe monodactyly with only a single phalanx. Limb features include median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals.
Related information in OMIM
Syndactyly, mesoaxial synostotic, with phalangeal reduction (MSSD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive, non-syndromic digit anomaly characterized by mesoaxial osseous synostosis at a metacarpal level, reduction of one or more phalanges, hypoplasia of distal phalanges of preaxial and postaxial digits, clinodactyly of fifth fingers, and preaxial fusion of toes.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07333371N → D in MSSD; completely abolishes the transcription activation with the dimerization partners TCF3, TCF4 and TCF12. 1 PublicationCorresponds to variant dbSNP:rs672601337EnsemblClinVar.1
Natural variantiVAR_07333473R → P in MSSD; completely abolishes the transcription activation with the dimerization partners TCF3, TCF4 and TCF12. 1 PublicationCorresponds to variant dbSNP:rs672601338EnsemblClinVar.1
Natural variantiVAR_07333575R → L in MSSD; completely abolishes the transcription activation with the dimerization partners TCF3, TCF4 and TCF12. 1 PublicationCorresponds to variant dbSNP:rs672601339EnsemblClinVar.1
Camptosynpolydactyly, complex (CCSPD)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by hand and foot deformities consisting of polydactyly with digits arising from the dorsum of hands, syn- and camptodactyly of some fingers, soft tissue syndactyly of first and second toes, and dysplastic nails.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07708674E → L in CCSPD; variant of unknown pathological significance; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant dbSNP:rs886037856EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
727857

MalaCards human disease database

More...
MalaCardsi
BHLHA9
MIMi607539 phenotype
609432 phenotype
612576 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000205899

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
1986 Gollop-Wolfgang complex
157801 Mesoaxial synostotic syndactyly with phalangeal reduction
3329 Tibial aplasia-ectrodactyly syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA164716602

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q7RTU4 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
BHLHA9

Domain mapping of disease mutations (DMDM)

More...
DMDMi
190358730

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003413771 – 235Class A basic helix-loop-helix protein 9Add BLAST235

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q7RTU4

PRoteomics IDEntifications database

More...
PRIDEi
Q7RTU4

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
68907

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q7RTU4

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q7RTU4

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000205899 Expressed in liver and 18 other tissues

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000205899 Tissue enriched (brain)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterodimer (PubMed:25466284). Efficient DNA binding requires dimerization with another bHLH protein.

Interacts with TCF3, TCF4, and TCF12 (PubMed:25466284).

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

Protein interaction database and analysis system

More...
IntActi
Q7RTU4, 11 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000375248

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q7RTU4 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q7RTU4

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini65 – 117bHLHPROSITE-ProRule annotationAdd BLAST53

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi152 – 220Pro-richAdd BLAST69

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410J0X0 Eukaryota
ENOG4112APN LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000002453

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_093878_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q7RTU4

Identification of Orthologs from Complete Genome Data

More...
OMAi
LECHGQA

Database of Orthologous Groups

More...
OrthoDBi
1267717at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q7RTU4

TreeFam database of animal gene trees

More...
TreeFami
TF337642

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00083 HLH, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
4.10.280.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00010 HLH, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00353 HLH, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47459 SSF47459, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50888 BHLH, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

Q7RTU4-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MLRGAPGLGL TARKGAEDSA EDLGGPCPEP GGDSGVLGAN GASCSRGEAE
60 70 80 90 100
EPAGRRRARP VRSKARRMAA NVRERKRILD YNEAFNALRR ALRHDLGGKR
110 120 130 140 150
LSKIATLRRA IHRIAALSLV LRASPAPRGP CGHLECHGPA ARGDTGDTGA
160 170 180 190 200
SPPPPAGPSL ARPDAARPSV PSAPRCASCP PHAPLARPSA VAEGPGLAQA
210 220 230
SGGSWRRCPG ASSAGPPPWP RGYLRSAPGM GHPRS
Length:235
Mass (Da):24,132
Last modified:June 10, 2008 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i1A4F0FD0E12F6E33
GO

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence DAA00302 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07333371N → D in MSSD; completely abolishes the transcription activation with the dimerization partners TCF3, TCF4 and TCF12. 1 PublicationCorresponds to variant dbSNP:rs672601337EnsemblClinVar.1
Natural variantiVAR_07333473R → P in MSSD; completely abolishes the transcription activation with the dimerization partners TCF3, TCF4 and TCF12. 1 PublicationCorresponds to variant dbSNP:rs672601338EnsemblClinVar.1
Natural variantiVAR_07708674E → L in CCSPD; variant of unknown pathological significance; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant dbSNP:rs886037856EnsemblClinVar.1
Natural variantiVAR_07333575R → L in MSSD; completely abolishes the transcription activation with the dimerization partners TCF3, TCF4 and TCF12. 1 PublicationCorresponds to variant dbSNP:rs672601339EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AC032044 Genomic DNA No translation available.
BK000140 Genomic DNA Translation: DAA00302.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS45560.1

NCBI Reference Sequences

More...
RefSeqi
NP_001157877.1, NM_001164405.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000391429; ENSP00000375248; ENSG00000205899

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
727857

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:727857

UCSC genome browser

More...
UCSCi
uc021tnd.2 human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC032044 Genomic DNA No translation available.
BK000140 Genomic DNA Translation: DAA00302.1 Different initiation.
CCDSiCCDS45560.1
RefSeqiNP_001157877.1, NM_001164405.1

3D structure databases

SMRiQ7RTU4
ModBaseiSearch...

Protein-protein interaction databases

IntActiQ7RTU4, 11 interactors
STRINGi9606.ENSP00000375248

PTM databases

iPTMnetiQ7RTU4
PhosphoSitePlusiQ7RTU4

Polymorphism and mutation databases

BioMutaiBHLHA9
DMDMi190358730

Proteomic databases

PaxDbiQ7RTU4
PRIDEiQ7RTU4
ProteomicsDBi68907

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
60610 67 antibodies

Genome annotation databases

EnsembliENST00000391429; ENSP00000375248; ENSG00000205899
GeneIDi727857
KEGGihsa:727857
UCSCiuc021tnd.2 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
727857
DisGeNETi727857

GeneCards: human genes, protein and diseases

More...
GeneCardsi
BHLHA9
HGNCiHGNC:35126 BHLHA9
HPAiENSG00000205899 Tissue enriched (brain)
MalaCardsiBHLHA9
MIMi607539 phenotype
609432 phenotype
612576 phenotype
615416 gene
neXtProtiNX_Q7RTU4
OpenTargetsiENSG00000205899
Orphaneti1986 Gollop-Wolfgang complex
157801 Mesoaxial synostotic syndactyly with phalangeal reduction
3329 Tibial aplasia-ectrodactyly syndrome
PharmGKBiPA164716602

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410J0X0 Eukaryota
ENOG4112APN LUCA
GeneTreeiENSGT00390000002453
HOGENOMiCLU_093878_0_0_1
InParanoidiQ7RTU4
OMAiLECHGQA
OrthoDBi1267717at2759
PhylomeDBiQ7RTU4
TreeFamiTF337642

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
BHLHA9

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
727857
PharosiQ7RTU4 Tbio

Protein Ontology

More...
PROi
PR:Q7RTU4
RNActiQ7RTU4 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000205899 Expressed in liver and 18 other tissues

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
PfamiView protein in Pfam
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiBHA09_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q7RTU4
Secondary accession number(s): A8MSH6
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 10, 2008
Last sequence update: June 10, 2008
Last modified: April 22, 2020
This is version 114 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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