Q6PI77 (BHLH9_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein BHLHb9
Short name=bHLHb9

Alternative name(s):
Transcription regulator of 60 kDa
Short name=p60TRP

Gene names

Name:	BHLHB9
Synonyms:	KIAA1701

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	547 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Polymorphism
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 547	547	Protein BHLHb9		PRO_0000334662
Regions
	Compositional bias	166 – 171	6	Poly-Glu
Amino acid modifications
	Modified residue	521	1	Phosphoserine By similarity
Natural variations
	Natural variant	132	1	S → G. Corresponds to variant rs2179675 [ dbSNP | Ensembl ].		VAR_049266
	Natural variant	318	1	C → R. Corresponds to variant rs4514179 [ dbSNP | Ensembl ].		VAR_049267

Sequences

	Sequence		Length	Mass (Da)
	Q6PI77 [UniParc]. Last modified July 5, 2004. Version 1. Checksum: EC0E8D95CC7CE09D	FASTA	547	60,291
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.
IPI	IPI00513802.
RefSeq	NP_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.
UniGene	Hs.4276.
3D structure databases
ProteinModelPortal	Q6PI77.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000354675.
PTM databases
PhosphoSite	Q6PI77.
Polymorphism databases
DMDM	74749201.
Proteomic databases
PaxDb	Q6PI77.
PRIDE	Q6PI77.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000361229; ENSP00000354675; ENSG00000198908. ENST00000372735; ENSP00000361820; ENSG00000198908. ENST00000447531; ENSP00000405893; ENSG00000198908. ENST00000448867; ENSP00000391722; ENSG00000198908. ENST00000457056; ENSP00000403226; ENSG00000198908.
GeneID	80823.
KEGG	hsa:80823.
UCSC	uc004ejo.3. human.
Organism-specific databases
CTD	80823.
GeneCards	GC0XP101975.
H-InvDB	HIX0176723.
HGNC	HGNC:29353. BHLHB9.
neXtProt	NX_Q6PI77.
PharmGKB	PA134895992.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG39230.
HOGENOM	HOG000095228.
HOVERGEN	HBG098352.
InParanoid	Q6PI77.
OMA	AIFREVK.
OrthoDB	EOG4ZS92X.
Gene expression databases
Bgee	Q6PI77.
CleanEx	HS_BHLHB9.
Genevestigator	Q6PI77.
Family and domain databases
Gene3D	1.25.10.10. 1 hit.
InterPro	IPR011989. ARM-like. IPR006911. ARM-rpt_dom. IPR016024. ARM-type_fold. [Graphical view]
Pfam	PF04826. Arm_2. 1 hit. [Graphical view]
SUPFAM	SSF48371. ARM-type_fold. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	80823.
NextBio	71228.

Entry information

Entry name

BHLH9_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 77 of the entry and version 1 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.