Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
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

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

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

HGNCiHGNC:35126. BHLHA9.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • nucleus Source: UniProtKB-SubCell
Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti71 – 711N → D in MSSD; completely abolishes the transcription activation with the dimerization partners TCF3, TCF4 and TCF12. 1 Publication
Corresponds to variant rs672601337 [ dbSNP | Ensembl ].
VAR_073333
Natural varianti73 – 731R → P in MSSD; completely abolishes the transcription activation with the dimerization partners TCF3, TCF4 and TCF12. 1 Publication
Corresponds to variant rs672601338 [ dbSNP | Ensembl ].
VAR_073334
Natural varianti75 – 751R → L in MSSD; completely abolishes the transcription activation with the dimerization partners TCF3, TCF4 and TCF12. 1 Publication
Corresponds to variant rs672601339 [ dbSNP | Ensembl ].
VAR_073335

Keywords - Diseasei

Disease mutation

Organism-specific databases

MalaCardsiBHLHA9.
MIMi609432. phenotype.
612576. phenotype.
Orphaneti3329. Tibial aplasia - ectrodactyly.
PharmGKBiPA164716602.

Polymorphism and mutation databases

DMDMi190358730.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 235235Class A basic helix-loop-helix protein 9PRO_0000341377Add
BLAST

Proteomic databases

PaxDbiQ7RTU4.
PRIDEiQ7RTU4.

PTM databases

iPTMnetiQ7RTU4.
PhosphoSiteiQ7RTU4.

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. Positions 77-118.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini65 – 11753bHLHPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi152 – 22069Pro-richAdd
BLAST

Sequence similaritiesi

Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiENOG410J0X0. Eukaryota.
ENOG4112APN. LUCA.
GeneTreeiENSGT00390000002453.
HOGENOMiHOG000095226.
InParanoidiQ7RTU4.
OMAiGSWRRCP.
OrthoDBiEOG091G0MBA.
PhylomeDBiQ7RTU4.
TreeFamiTF337642.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
[Graphical view]
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti71 – 711N → D in MSSD; completely abolishes the transcription activation with the dimerization partners TCF3, TCF4 and TCF12. 1 Publication
Corresponds to variant rs672601337 [ dbSNP | Ensembl ].
VAR_073333
Natural varianti73 – 731R → P in MSSD; completely abolishes the transcription activation with the dimerization partners TCF3, TCF4 and TCF12. 1 Publication
Corresponds to variant rs672601338 [ dbSNP | Ensembl ].
VAR_073334
Natural varianti75 – 751R → L in MSSD; completely abolishes the transcription activation with the dimerization partners TCF3, TCF4 and TCF12. 1 Publication
Corresponds to variant rs672601339 [ dbSNP | Ensembl ].
VAR_073335

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.

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. Positions 77-118.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000375248.

PTM databases

iPTMnetiQ7RTU4.
PhosphoSiteiQ7RTU4.

Polymorphism and mutation databases

DMDMi190358730.

Proteomic databases

PaxDbiQ7RTU4.
PRIDEiQ7RTU4.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi727857.
GeneCardsiBHLHA9.
HGNCiHGNC:35126. BHLHA9.
HPAiHPA062632.
MalaCardsiBHLHA9.
MIMi609432. phenotype.
612576. phenotype.
615416. gene.
neXtProtiNX_Q7RTU4.
Orphaneti3329. Tibial aplasia - ectrodactyly.
PharmGKBiPA164716602.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J0X0. Eukaryota.
ENOG4112APN. LUCA.
GeneTreeiENSGT00390000002453.
HOGENOMiHOG000095226.
InParanoidiQ7RTU4.
OMAiGSWRRCP.
OrthoDBiEOG091G0MBA.
PhylomeDBiQ7RTU4.
TreeFamiTF337642.

Miscellaneous databases

GeneWikiiBHLHA9.
GenomeRNAii727857.
PROiQ7RTU4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000205899.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
[Graphical view]
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiBHA09_HUMAN
AccessioniPrimary (citable) accession number: Q7RTU4
Secondary accession number(s): A8MSH6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 10, 2008
Last sequence update: June 10, 2008
Last modified: September 7, 2016
This is version 90 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 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
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.