Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Protein BHLHb9

Gene

BHLHB9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

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

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Protein BHLHb9
Short name:
bHLHb9
Alternative name(s):
Transcription regulator of 60 kDa
Short name:
p60TRP
Gene namesi
Name:BHLHB9
Synonyms:KIAA1701
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:29353. BHLHB9.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB-SubCell
  • extracellular exosome Source: UniProtKB
  • nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134895992.

Polymorphism and mutation databases

BioMutaiBHLHB9.
DMDMi74749201.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 547547Protein BHLHb9PRO_0000334662Add
BLAST

Proteomic databases

PaxDbiQ6PI77.
PRIDEiQ6PI77.

PTM databases

PhosphoSiteiQ6PI77.

Expressioni

Tissue specificityi

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

Inductioni

Down-regulated in colon cancer cells, due to CpG hypermethylation of its promoter.1 Publication

Gene expression databases

BgeeiQ6PI77.
CleanExiHS_BHLHB9.
GenevestigatoriQ6PI77.

Interactioni

Protein-protein interaction databases

BioGridi123320. 4 interactions.
STRINGi9606.ENSP00000354675.

Structurei

3D structure databases

ProteinModelPortaliQ6PI77.
SMRiQ6PI77. Positions 320-494.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi166 – 1716Poly-Glu

Sequence similaritiesi

Belongs to the GPRASP family.Curated

Phylogenomic databases

eggNOGiNOG39230.
GeneTreeiENSGT00550000074488.
HOGENOMiHOG000095228.
HOVERGENiHBG098352.
InParanoidiQ6PI77.
OMAiSDPCIQT.
OrthoDBiEOG70PBZ0.
PhylomeDBiQ6PI77.
TreeFamiTF335652.

Family and domain databases

Gene3Di1.25.10.10. 1 hit.
InterProiIPR011989. ARM-like.
IPR006911. ARM-rpt_dom.
IPR016024. ARM-type_fold.
[Graphical view]
PfamiPF04826. Arm_2. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 1 hit.

Sequencei

Sequence statusi: Complete.

Q6PI77-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAGTKNKTRA QAKTEKKAAI QAKAGAEREA TGVVRPVAKT RAKAKAKTGS
60 70 80 90 100
KTDAVAEMKA VSKNKVVAET KEGALSEPKT LGKAMGDFTP KAGNESTSST
110 120 130 140 150
CKNEAGTDAW FWAGEEATIN SWFWNGEEAG NSFSTKNDKP EIGAQVCAEE
160 170 180 190 200
LEPAAGADCK PRSGAEEEEE ENVIGNWFWE GDDTSFDPNP KPVSRIVKPQ
210 220 230 240 250
PVYEINEKNR PKDWSEVTIW PNAPAVTPAV LGFRSQAPSE ASPPSYIVLA
260 270 280 290 300
SAEENACSLP VATACRPSRN TRSCSQPIPE CRFDSDPCIQ TIDEIRRQIR
310 320 330 340 350
IREVNGIKPF ACPCKMECYM DSEEFEKLVS LLKSTTDPLI HKIARIAMGV
360 370 380 390 400
HNVHPFAQEF INEVGVVTLI ESLLSFPSPE MRKKTVITLN PPSGDERQRK
410 420 430 440 450
IELHVKHMCK ETMSFPLNSP GQQSGLKILG QLTTDFVHHY IVANYFSELF
460 470 480 490 500
HLLSSGNCKT RNLVLKLLLN MSENPTAARD MINMKALAAL KLIFNQKEAK
510 520 530 540
ANLVSGVAIF INIKEHIRKG SIVVVDHLSY NTLMAIFREV KEIIETM
Length:547
Mass (Da):60,291
Last modified:July 5, 2004 - v1
Checksum:iEC0E8D95CC7CE09D
GO

Sequence cautioni

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti132 – 1321S → G.
Corresponds to variant rs2179675 [ dbSNP | Ensembl ].
VAR_049266
Natural varianti318 – 3181C → R.
Corresponds to variant rs4514179 [ dbSNP | Ensembl ].
VAR_049267

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS14502.1.
RefSeqiNP_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.
UniGeneiHs.4276.

Genome annotation databases

EnsembliENST00000361229; ENSP00000354675; ENSG00000198908.
ENST00000372735; ENSP00000361820; ENSG00000198908.
ENST00000447531; ENSP00000405893; ENSG00000198908.
ENST00000448867; ENSP00000391722; ENSG00000198908.
ENST00000457056; ENSP00000403226; ENSG00000198908.
GeneIDi80823.
KEGGihsa:80823.
UCSCiuc004ejo.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS14502.1.
RefSeqiNP_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.
UniGeneiHs.4276.

3D structure databases

ProteinModelPortaliQ6PI77.
SMRiQ6PI77. Positions 320-494.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123320. 4 interactions.
STRINGi9606.ENSP00000354675.

PTM databases

PhosphoSiteiQ6PI77.

Polymorphism and mutation databases

BioMutaiBHLHB9.
DMDMi74749201.

Proteomic databases

PaxDbiQ6PI77.
PRIDEiQ6PI77.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000361229; ENSP00000354675; ENSG00000198908.
ENST00000372735; ENSP00000361820; ENSG00000198908.
ENST00000447531; ENSP00000405893; ENSG00000198908.
ENST00000448867; ENSP00000391722; ENSG00000198908.
ENST00000457056; ENSP00000403226; ENSG00000198908.
GeneIDi80823.
KEGGihsa:80823.
UCSCiuc004ejo.3. human.

Organism-specific databases

CTDi80823.
GeneCardsiGC0XP101975.
H-InvDBHIX0176723.
HGNCiHGNC:29353. BHLHB9.
MIMi300921. gene.
neXtProtiNX_Q6PI77.
PharmGKBiPA134895992.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG39230.
GeneTreeiENSGT00550000074488.
HOGENOMiHOG000095228.
HOVERGENiHBG098352.
InParanoidiQ6PI77.
OMAiSDPCIQT.
OrthoDBiEOG70PBZ0.
PhylomeDBiQ6PI77.
TreeFamiTF335652.

Miscellaneous databases

GenomeRNAii80823.
NextBioi71228.
PROiQ6PI77.
SOURCEiSearch...

Gene expression databases

BgeeiQ6PI77.
CleanExiHS_BHLHB9.
GenevestigatoriQ6PI77.

Family and domain databases

Gene3Di1.25.10.10. 1 hit.
InterProiIPR011989. ARM-like.
IPR006911. ARM-rpt_dom.
IPR016024. ARM-type_fold.
[Graphical view]
PfamiPF04826. Arm_2. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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. 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.

Entry informationi

Entry nameiBHLH9_HUMAN
AccessioniPrimary (citable) accession number: Q6PI77
Secondary accession number(s): Q9C0G2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: July 5, 2004
Last modified: May 27, 2015
This is version 91 of the entry and version 1 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

Caution

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.