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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-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

  • DNA binding Source: UniProtKB-KW
  • protein heterodimerization activity Source: UniProtKB

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.

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:rs672601337Ensembl.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:rs672601338Ensembl.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:rs672601339Ensembl.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 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi727857.
MalaCardsiBHLHA9.
MIMi607539. phenotype.
609432. phenotype.
612576. phenotype.
OpenTargetsiENSG00000205899.
Orphaneti3329. Tibial aplasia - ectrodactyly.
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.

PTM databases

iPTMnetiQ7RTU4.
PhosphoSitePlusiQ7RTU4.

Expressioni

Gene expression databases

BgeeiENSG00000205899.

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 heterodimerization activity Source: UniProtKB

Protein-protein interaction databases

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.
OMAiGSWRRCP.
OrthoDBiEOG091G0MBA.
PhylomeDBiQ7RTU4.
TreeFamiTF337642.

Family and domain databases

CDDicd00083. HLH. 1 hit.
Gene3Di4.10.280.10. 1 hit.
InterProiView protein in InterPro
IPR011598. bHLH_dom.
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:rs672601337Ensembl.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:rs672601338Ensembl.1
Natural variantiVAR_07708674E → L in CCSPD; variant of unknown pathological significance; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_07333575R → L in MSSD; completely abolishes the transcription activation with the dimerization partners TCF3, TCF4 and TCF12. 1 PublicationCorresponds to variant dbSNP:rs672601339Ensembl.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

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: September 27, 2017
This is version 97 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 chromosome 17
    Human chromosome 17: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot