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Q6PI77 (BHLH9_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 83. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | 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:
Protein BHLHb9

Short name=bHLHb9
Alternative name(s):
Transcription regulator of 60 kDa
Short name=p60TRP
Gene names
Name:BHLHB9
Synonyms:KIAA1701
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length547 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

May play a role in the control of cellular aging and survival. Ref.1

Subcellular location

Cytoplasm. Nucleus. Note: Mainly cytoplasmic, and nuclear at lower level. Ref.1

Tissue specificity

Highly expressed in brain. Not expressed in lung or liver. Down-regulated in brain from patients suffering from Alzheimer disease. Ref.1

Induction

Down-regulated in colon cancer cells, due to CpG hypermethylation of its promoter. Ref.6

Sequence similarities

Belongs to the GPRASP family.

Caution

Despite its name, no basic helix-loop-helix (bHLH) domain is detected by any prediction tool.

Sequence caution

The sequence BAB21792.1 differs from that shown. Reason: Erroneous initiation.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 547547Protein BHLHb9
PRO_0000334662

Regions

Compositional bias166 – 1716Poly-Glu

Natural variations

Natural variant1321S → G.
Corresponds to variant rs2179675 [ dbSNP | Ensembl ].
VAR_049266
Natural variant3181C → R.
Corresponds to variant rs4514179 [ dbSNP | Ensembl ].
VAR_049267

Sequences

Sequence LengthMass (Da)Tools
Q6PI77 [UniParc].

Last modified July 5, 2004. Version 1.
Checksum: EC0E8D95CC7CE09D

FASTA54760,291
        10         20         30         40         50         60 
MAGTKNKTRA QAKTEKKAAI QAKAGAEREA TGVVRPVAKT RAKAKAKTGS KTDAVAEMKA 

        70         80         90        100        110        120 
VSKNKVVAET KEGALSEPKT LGKAMGDFTP KAGNESTSST CKNEAGTDAW FWAGEEATIN 

       130        140        150        160        170        180 
SWFWNGEEAG NSFSTKNDKP EIGAQVCAEE LEPAAGADCK PRSGAEEEEE ENVIGNWFWE 

       190        200        210        220        230        240 
GDDTSFDPNP KPVSRIVKPQ PVYEINEKNR PKDWSEVTIW PNAPAVTPAV LGFRSQAPSE 

       250        260        270        280        290        300 
ASPPSYIVLA SAEENACSLP VATACRPSRN TRSCSQPIPE CRFDSDPCIQ TIDEIRRQIR 

       310        320        330        340        350        360 
IREVNGIKPF ACPCKMECYM DSEEFEKLVS LLKSTTDPLI HKIARIAMGV HNVHPFAQEF 

       370        380        390        400        410        420 
INEVGVVTLI ESLLSFPSPE MRKKTVITLN PPSGDERQRK IELHVKHMCK ETMSFPLNSP 

       430        440        450        460        470        480 
GQQSGLKILG QLTTDFVHHY IVANYFSELF HLLSSGNCKT RNLVLKLLLN MSENPTAARD 

       490        500        510        520        530        540 
MINMKALAAL KLIFNQKEAK ANLVSGVAIF INIKEHIRKG SIVVVDHLSY NTLMAIFREV 


KEIIETM 

« Hide

References

« Hide 'large scale' references
[1]"Characterizing the new transcription regulator protein p60TRP."
Heese K., Yamada T., Akatsu H., Yamamoto T., Kosaka K., Nagai Y., Sawada T.
J. Cell. Biochem. 91:1030-1042(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], POSSIBLE FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[2]"Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O.
DNA Res. 7:347-355(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain.
[3]"The DNA sequence of the human X chromosome."
Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. expand/collapse author list , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain.
[6]"Discovery of epigenetically silenced genes by methylated DNA immunoprecipitation in colon cancer cells."
Jacinto F.V., Ballestar E., Ropero S., Esteller M.
Cancer Res. 67:11481-11486(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: INDUCTION.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF547055 mRNA. Translation: AAQ12077.1.
AB051488 mRNA. Translation: BAB21792.1. Different initiation.
AL035427 Genomic DNA. Translation: CAI43061.1.
CH471190 Genomic DNA. Translation: EAW54726.1.
BC041409 mRNA. Translation: AAH41409.1.
RefSeqNP_001135996.1. NM_001142524.1.
NP_001135997.1. NM_001142525.1.
NP_001135998.1. NM_001142526.1.
NP_001135999.1. NM_001142527.1.
NP_001136000.1. NM_001142528.1.
NP_001136001.1. NM_001142529.1.
NP_001136002.1. NM_001142530.1.
NP_085142.1. NM_030639.2.
UniGeneHs.4276.

3D structure databases

ProteinModelPortalQ6PI77.
SMRQ6PI77. Positions 326-381, 445-514.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123320. 4 interactions.
STRING9606.ENSP00000354675.

PTM databases

PhosphoSiteQ6PI77.

Polymorphism databases

DMDM74749201.

Proteomic databases

PaxDbQ6PI77.
PRIDEQ6PI77.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000361229; ENSP00000354675; ENSG00000198908.
ENST00000372735; ENSP00000361820; ENSG00000198908.
ENST00000447531; ENSP00000405893; ENSG00000198908.
ENST00000448867; ENSP00000391722; ENSG00000198908.
ENST00000457056; ENSP00000403226; ENSG00000198908.
GeneID80823.
KEGGhsa:80823.
UCSCuc004ejo.3. human.

Organism-specific databases

CTD80823.
GeneCardsGC0XP101975.
H-InvDBHIX0176723.
HGNCHGNC:29353. BHLHB9.
HPAHPA020457.
neXtProtNX_Q6PI77.
PharmGKBPA134895992.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG39230.
HOGENOMHOG000095228.
HOVERGENHBG098352.
InParanoidQ6PI77.
OMATTDPLIH.
OrthoDBEOG70PBZ0.
PhylomeDBQ6PI77.
TreeFamTF335652.

Gene expression databases

BgeeQ6PI77.
CleanExHS_BHLHB9.
GenevestigatorQ6PI77.

Family and domain databases

Gene3D1.25.10.10. 1 hit.
InterProIPR011989. ARM-like.
IPR006911. ARM-rpt_dom.
IPR016024. ARM-type_fold.
[Graphical view]
PfamPF04826. Arm_2. 1 hit.
[Graphical view]
SUPFAMSSF48371. SSF48371. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi80823.
NextBio71228.
PROQ6PI77.

Entry information

Entry nameBHLH9_HUMAN
AccessionPrimary (citable) accession number: Q6PI77
Secondary accession number(s): Q9C0G2
Entry history
Integrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: July 5, 2004
Last modified: April 16, 2014
This is version 83 of the entry and version 1 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

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

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