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Protein

Class A basic helix-loop-helix protein 9

Gene

BHLHA9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

GO - Molecular functioni

GO - Biological processi

Keywordsi

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

Names & Taxonomyi

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
Gene namesi
Name:BHLHA9
Synonyms:BHLHF42
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000205899.3
HGNCiHGNC:35126 BHLHA9
MIMi615416 gene
neXtProtiNX_Q7RTU4

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

Cytoplasm, Nucleus

Pathology & Biotechi

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.
See also OMIM:612576
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.
See also OMIM:609432
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_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.
See also OMIM:607539
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

DisGeNETi727857
MalaCardsiBHLHA9
MIMi607539 phenotype
609432 phenotype
612576 phenotype
OpenTargetsiENSG00000205899
Orphaneti157801 Mesoaxial synostotic syndactyly with phalangeal reduction
3329 Tibial aplasia-ectrodactyly syndrome
PharmGKBiPA164716602

Polymorphism and mutation databases

DMDMi190358730

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003413771 – 235Class A basic helix-loop-helix protein 9Add BLAST235

Proteomic databases

PaxDbiQ7RTU4
PRIDEiQ7RTU4
ProteomicsDBi68907

PTM databases

iPTMnetiQ7RTU4
PhosphoSitePlusiQ7RTU4

Expressioni

Gene expression databases

BgeeiENSG00000205899 Expressed in 19 organ(s), highest expression level in liver

Organism-specific databases

HPAiHPA062632

Interactioni

Subunit structurei

Heterodimer (PubMed:25466284). Efficient DNA binding requires dimerization with another bHLH protein. Interacts with TCF3, TCF4, and TCF12 (PubMed:25466284).1 Publication

GO - Molecular functioni

Protein-protein interaction databases

IntActiQ7RTU4, 11 interactors
STRINGi9606.ENSP00000375248

Structurei

3D structure databases

ProteinModelPortaliQ7RTU4
SMRiQ7RTU4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini65 – 117bHLHPROSITE-ProRule annotationAdd BLAST53

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi152 – 220Pro-richAdd BLAST69

Phylogenomic databases

eggNOGiENOG410J0X0 Eukaryota
ENOG4112APN LUCA
GeneTreeiENSGT00390000002453
HOGENOMiHOG000095226
InParanoidiQ7RTU4
OMAiLECHGQA
OrthoDBiEOG091G0MBA
PhylomeDBiQ7RTU4
TreeFamiTF337642

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

Sequencei

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
Checksum:i1A4F0FD0E12F6E33
GO

Sequence cautioni

The sequence DAA00302 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.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:
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
UniGeneiHs.723790

Genome annotation databases

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

Similar proteinsi

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
UniGeneiHs.723790

3D structure databases

ProteinModelPortaliQ7RTU4
SMRiQ7RTU4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ7RTU4, 11 interactors
STRINGi9606.ENSP00000375248

PTM databases

iPTMnetiQ7RTU4
PhosphoSitePlusiQ7RTU4

Polymorphism and mutation databases

DMDMi190358730

Proteomic databases

PaxDbiQ7RTU4
PRIDEiQ7RTU4
ProteomicsDBi68907

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi727857
DisGeNETi727857
EuPathDBiHostDB:ENSG00000205899.3
GeneCardsiBHLHA9
HGNCiHGNC:35126 BHLHA9
HPAiHPA062632
MalaCardsiBHLHA9
MIMi607539 phenotype
609432 phenotype
612576 phenotype
615416 gene
neXtProtiNX_Q7RTU4
OpenTargetsiENSG00000205899
Orphaneti157801 Mesoaxial synostotic syndactyly with phalangeal reduction
3329 Tibial aplasia-ectrodactyly syndrome
PharmGKBiPA164716602
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J0X0 Eukaryota
ENOG4112APN LUCA
GeneTreeiENSGT00390000002453
HOGENOMiHOG000095226
InParanoidiQ7RTU4
OMAiLECHGQA
OrthoDBiEOG091G0MBA
PhylomeDBiQ7RTU4
TreeFamiTF337642

Miscellaneous databases

GeneWikiiBHLHA9
GenomeRNAii727857
PROiPR:Q7RTU4
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000205899 Expressed in 19 organ(s), highest expression level in liver

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
ProtoNetiSearch...

Entry informationi

Entry nameiBHA09_HUMAN
AccessioniPrimary (citable) accession number: Q7RTU4
Secondary accession number(s): A8MSH6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 10, 2008
Last sequence update: June 10, 2008
Last modified: November 7, 2018
This is version 105 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. 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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