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Q7RTU4 (BHA09_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 72. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:BHLHA9
Synonyms:BHLHF42
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length235 AA.
Sequence statusComplete.
Protein existenceInferred from homology

General annotation (Comments)

Function

Putative transcription factor, which may play a role in limb development. Ref.3

Subcellular location

Nucleus By similarity.

Involvement in disease

Split-hand/foot malformation with long bone deficiency 3 (SHFLD3) [MIM:612576]: A 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.
Note: 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 (Ref.3). Ref.3

Sequence similarities

Contains 1 bHLH (basic helix-loop-helix) domain.

Sequence caution

The sequence DAA00302.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   LigandDNA-binding
   Molecular functionDevelopmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processmulticellular organismal development

Inferred from electronic annotation. Source: UniProtKB-KW

regulation of transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionDNA binding

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 235235Class A basic helix-loop-helix protein 9
PRO_0000341377

Regions

Domain65 – 11753bHLH
Compositional bias152 – 22069Pro-rich

Sequences

Sequence LengthMass (Da)Tools
Q7RTU4 [UniParc].

Last modified June 10, 2008. Version 2.
Checksum: 1A4F0FD0E12F6E33

FASTA23524,132
        10         20         30         40         50         60 
MLRGAPGLGL TARKGAEDSA EDLGGPCPEP GGDSGVLGAN GASCSRGEAE EPAGRRRARP 

        70         80         90        100        110        120 
VRSKARRMAA NVRERKRILD YNEAFNALRR ALRHDLGGKR LSKIATLRRA IHRIAALSLV 

       130        140        150        160        170        180 
LRASPAPRGP CGHLECHGPA ARGDTGDTGA SPPPPAGPSL ARPDAARPSV PSAPRCASCP 

       190        200        210        220        230 
PHAPLARPSA VAEGPGLAQA SGGSWRRCPG ASSAGPPPWP RGYLRSAPGM GHPRS 

« Hide

References

« Hide 'large scale' references
[1]"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. expand/collapse author list , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]"Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening."
McLellan A.S., Langlands K., Kealey T.
Mech. Dev. 119:S285-S291(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION.
[3]"Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion."
Klopocki E., Lohan S., Doelken S.C., Stricker S., Ockeloen C.W., Soares Thiele de Aguiar R., Lezirovitz K., Mingroni Netto R.C., Jamsheer A., Shah H., Kurth I., Habenicht R., Warman M., Devriendt K., Kordass U., Hempel M., Rajab A., Makitie O. expand/collapse author list , Naveed M., Radhakrishna U., Antonarakis S.E., Horn D., Mundlos S.
J. Med. Genet. 49:119-125(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INVOLVEMENT IN SHFLD3.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AC032044 Genomic DNA. No translation available.
BK000140 Genomic DNA. Translation: DAA00302.1. Different initiation.
RefSeqNP_001157877.1. NM_001164405.1.
UniGeneHs.723790.

3D structure databases

ProteinModelPortalQ7RTU4.
SMRQ7RTU4. Positions 66-122.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteQ7RTU4.

Polymorphism databases

DMDM190358730.

Proteomic databases

PaxDbQ7RTU4.
PRIDEQ7RTU4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000391429; ENSP00000375248; ENSG00000205899.
GeneID727857.
KEGGhsa:727857.
UCSCuc021tnd.1. human.

Organism-specific databases

CTD727857.
GeneCardsGC17P001175.
HGNCHGNC:35126. BHLHA9.
MIM612576. phenotype.
615416. gene.
neXtProtNX_Q7RTU4.
Orphanet3329. Tibial aplasia - ectrodactyly.
PharmGKBPA164716602.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG82328.
HOGENOMHOG000095226.
InParanoidQ7RTU4.
OMAPCGHLEC.
OrthoDBEOG7C5M9C.
PhylomeDBQ7RTU4.
TreeFamTF337642.

Gene expression databases

BgeeQ7RTU4.
GenevestigatorQ7RTU4.

Family and domain databases

Gene3D4.10.280.10. 1 hit.
InterProIPR011598. bHLH_dom.
[Graphical view]
PfamPF00010. HLH. 1 hit.
[Graphical view]
SMARTSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMSSF47459. SSF47459. 1 hit.
PROSITEPS50888. BHLH. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiBHLHA9.
GenomeRNAi727857.
NextBio125337.
PROQ7RTU4.
SOURCESearch...

Entry information

Entry nameBHA09_HUMAN
AccessionPrimary (citable) accession number: Q7RTU4
Secondary accession number(s): A8MSH6
Entry history
Integrated into UniProtKB/Swiss-Prot: June 10, 2008
Last sequence update: June 10, 2008
Last modified: April 16, 2014
This is version 72 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM