Q7RTU4 (BHA09_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	BHLHA9
Synonyms:	BHLHF42

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	235 AA.
Sequence status	Complete.
Protein existence	Inferred from homology

General annotation (Comments)

Function	Putative transcription factor By similarity.
Subcellular location	Nucleus By similarity.
Sequence similarities	Contains 1 bHLH (basic helix-loop-helix) domain.
Sequence caution	The sequence DAA00302.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Ligand	DNA-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 235	235	Class A basic helix-loop-helix protein 9		PRO_0000341377
Regions
	Domain	65 – 117	53	bHLH
	Compositional bias	152 – 220	69	Pro-rich

Sequences

	Sequence		Length	Mass (Da)
	Q7RTU4 [UniParc]. Last modified June 10, 2008. Version 2. Checksum: 1A4F0FD0E12F6E33	FASTA	235	24,132
	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

References

	« Hide 'large scale' referencesShow '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. , 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.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AC032044 Genomic DNA. No translation available. BK000140 Genomic DNA. Translation: DAA00302.1. Different initiation.
IPI	IPI00394927.
RefSeq	NP_001157877.1. NM_001164405.1.
UniGene	Hs.723790.
3D structure databases
ProteinModelPortal	Q7RTU4.
ModBase	Search...
PTM databases
PhosphoSite	Q7RTU4.
Polymorphism databases
DMDM	190358730.
Proteomic databases
PaxDb	Q7RTU4.
PRIDE	Q7RTU4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000391429; ENSP00000375248; ENSG00000205899.
GeneID	727857.
KEGG	hsa:727857.
UCSC	uc021tnd.1. human.
Organism-specific databases
CTD	727857.
GeneCards	GC17P001175.
HGNC	HGNC:35126. BHLHA9.
neXtProt	NX_Q7RTU4.
Orphanet	3329. Tibial aplasia - ectrodactyly.
PharmGKB	PA164716602.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG82328.
HOGENOM	HOG000095226.
InParanoid	Q7RTU4.
OMA	PCGHLEC.
OrthoDB	EOG43N7DT.
Gene expression databases
Bgee	Q7RTU4.
Genevestigator	Q7RTU4.
Family and domain databases
Gene3D	4.10.280.10. 1 hit.
InterPro	IPR011598. bHLH_dom. [Graphical view]
Pfam	PF00010. HLH. 1 hit. [Graphical view]
SMART	SM00353. HLH. 1 hit. [Graphical view]
SUPFAM	SSF47459. HLH_basic. 1 hit.
PROSITE	PS50888. BHLH. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	727857.
NextBio	125337.

Entry information

Entry name

BHA09_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 65 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.