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Q7RTU4

- BHA09_HUMAN

UniProt

Q7RTU4 - BHA09_HUMAN

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Protein
Class A basic helix-loop-helix protein 9
Gene
BHLHA9, BHLHF42
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Protein inferred from homologyi

Functioni

Putative transcription factor, which may play a role in limb development.1 Publication

GO - Molecular functioni

  1. DNA binding Source: UniProtKB-KW
Complete GO annotation...

GO - Biological processi

  1. multicellular organismal development Source: UniProtKB-KW
  2. regulation of transcription, DNA-templated Source: UniProtKB-KW
  3. transcription, DNA-templated Source: UniProtKB-KW
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
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:35126. BHLHA9.

Subcellular locationi

Nucleus By similarity

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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 (1 Publication).1 Publication

Organism-specific databases

MIMi612576. phenotype.
Orphaneti3329. Tibial aplasia - ectrodactyly.
PharmGKBiPA164716602.

PTM / Processingi

Molecule processing

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

Proteomic databases

PaxDbiQ7RTU4.
PRIDEiQ7RTU4.

PTM databases

PhosphoSiteiQ7RTU4.

Expressioni

Gene expression databases

BgeeiQ7RTU4.
GenevestigatoriQ7RTU4.

Structurei

3D structure databases

ProteinModelPortaliQ7RTU4.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini65 – 11753bHLH
Add
BLAST

Compositional bias

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

Sequence similaritiesi

Phylogenomic databases

eggNOGiNOG82328.
HOGENOMiHOG000095226.
InParanoidiQ7RTU4.
OMAiIHRITAL.
OrthoDBiEOG7C5M9C.
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

MLRGAPGLGL TARKGAEDSA EDLGGPCPEP GGDSGVLGAN GASCSRGEAE    50
EPAGRRRARP VRSKARRMAA NVRERKRILD YNEAFNALRR ALRHDLGGKR 100
LSKIATLRRA IHRIAALSLV LRASPAPRGP CGHLECHGPA ARGDTGDTGA 150
SPPPPAGPSL ARPDAARPSV PSAPRCASCP PHAPLARPSA VAEGPGLAQA 200
SGGSWRRCPG ASSAGPPPWP RGYLRSAPGM GHPRS 235
Length:235
Mass (Da):24,132
Last modified:June 10, 2008 - v2
Checksum:i1A4F0FD0E12F6E33
GO

Sequence cautioni

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

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.1. human.

Polymorphism databases

DMDMi190358730.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AC032044 Genomic DNA. No translation available.
BK000140 Genomic DNA. Translation: DAA00302.1 . Different initiation.
CCDSi CCDS45560.1.
RefSeqi NP_001157877.1. NM_001164405.1.
UniGenei Hs.723790.

3D structure databases

ProteinModelPortali Q7RTU4.
ModBasei Search...

PTM databases

PhosphoSitei Q7RTU4.

Polymorphism databases

DMDMi 190358730.

Proteomic databases

PaxDbi Q7RTU4.
PRIDEi Q7RTU4.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000391429 ; ENSP00000375248 ; ENSG00000205899 .
GeneIDi 727857.
KEGGi hsa:727857.
UCSCi uc021tnd.1. human.

Organism-specific databases

CTDi 727857.
GeneCardsi GC17P001175.
HGNCi HGNC:35126. BHLHA9.
MIMi 612576. phenotype.
615416. gene.
neXtProti NX_Q7RTU4.
Orphaneti 3329. Tibial aplasia - ectrodactyly.
PharmGKBi PA164716602.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG82328.
HOGENOMi HOG000095226.
InParanoidi Q7RTU4.
OMAi IHRITAL.
OrthoDBi EOG7C5M9C.
PhylomeDBi Q7RTU4.
TreeFami TF337642.

Miscellaneous databases

GeneWikii BHLHA9.
GenomeRNAii 727857.
NextBioi 125337.
PROi Q7RTU4.
SOURCEi Search...

Gene expression databases

Bgeei Q7RTU4.
Genevestigatori Q7RTU4.

Family and domain databases

Gene3Di 4.10.280.10. 1 hit.
InterProi IPR011598. bHLH_dom.
[Graphical view ]
Pfami PF00010. HLH. 1 hit.
[Graphical view ]
SMARTi SM00353. HLH. 1 hit.
[Graphical view ]
SUPFAMi SSF47459. SSF47459. 1 hit.
PROSITEi PS50888. BHLH. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. Cited for: FUNCTION, INVOLVEMENT IN SHFLD3.

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: July 9, 2014
This is version 75 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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