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Q6PI77

- BHLH9_HUMAN

UniProt

Q6PI77 - BHLH9_HUMAN

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Protein
Protein BHLHb9
Gene
BHLHB9, KIAA1701
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at transcript leveli

Functioni

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

GO - Molecular functioni

  1. protein homodimerization activity Source: UniProt
Complete GO annotation...

GO - Biological processi

  1. learning or memory Source: UniProt
  2. negative regulation of neuron apoptotic process Source: UniProt
  3. positive regulation of dendritic spine morphogenesis Source: UniProt
  4. positive regulation of neurogenesis Source: UniProt
  5. positive regulation of synapse assembly Source: UniProt
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: Chromosome X

Organism-specific databases

HGNCiHGNC:29353. BHLHB9.

Subcellular locationi

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

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-SubCell
  2. extracellular vesicular exosome Source: UniProt
  3. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134895992.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 547547Protein BHLHb9
PRO_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.

Organism-specific databases

HPAiHPA020457.

Interactioni

Protein-protein interaction databases

BioGridi123320. 4 interactions.
STRINGi9606.ENSP00000354675.

Structurei

3D structure databases

ProteinModelPortaliQ6PI77.
SMRiQ6PI77. Positions 326-381, 445-514.

Family & Domainsi

Compositional bias

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

Sequence similaritiesi

Belongs to the GPRASP family.

Phylogenomic databases

eggNOGiNOG39230.
HOGENOMiHOG000095228.
HOVERGENiHBG098352.
InParanoidiQ6PI77.
OMAiTTDPLIH.
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

MAGTKNKTRA QAKTEKKAAI QAKAGAEREA TGVVRPVAKT RAKAKAKTGS    50
KTDAVAEMKA VSKNKVVAET KEGALSEPKT LGKAMGDFTP KAGNESTSST 100
CKNEAGTDAW FWAGEEATIN SWFWNGEEAG NSFSTKNDKP EIGAQVCAEE 150
LEPAAGADCK PRSGAEEEEE ENVIGNWFWE GDDTSFDPNP KPVSRIVKPQ 200
PVYEINEKNR PKDWSEVTIW PNAPAVTPAV LGFRSQAPSE ASPPSYIVLA 250
SAEENACSLP VATACRPSRN TRSCSQPIPE CRFDSDPCIQ TIDEIRRQIR 300
IREVNGIKPF ACPCKMECYM DSEEFEKLVS LLKSTTDPLI HKIARIAMGV 350
HNVHPFAQEF INEVGVVTLI ESLLSFPSPE MRKKTVITLN PPSGDERQRK 400
IELHVKHMCK ETMSFPLNSP GQQSGLKILG QLTTDFVHHY IVANYFSELF 450
HLLSSGNCKT RNLVLKLLLN MSENPTAARD MINMKALAAL KLIFNQKEAK 500
ANLVSGVAIF INIKEHIRKG SIVVVDHLSY NTLMAIFREV KEIIETM 547
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.

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:
EMBL
GenBank
DDBJ
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.

Polymorphism databases

DMDMi74749201.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS14502.1.
RefSeqi 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.
UniGenei Hs.4276.

3D structure databases

ProteinModelPortali Q6PI77.
SMRi Q6PI77. Positions 326-381, 445-514.
ModBasei Search...

Protein-protein interaction databases

BioGridi 123320. 4 interactions.
STRINGi 9606.ENSP00000354675.

PTM databases

PhosphoSitei Q6PI77.

Polymorphism databases

DMDMi 74749201.

Proteomic databases

PaxDbi Q6PI77.
PRIDEi Q6PI77.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000361229 ; ENSP00000354675 ; ENSG00000198908 .
ENST00000372735 ; ENSP00000361820 ; ENSG00000198908 .
ENST00000447531 ; ENSP00000405893 ; ENSG00000198908 .
ENST00000448867 ; ENSP00000391722 ; ENSG00000198908 .
ENST00000457056 ; ENSP00000403226 ; ENSG00000198908 .
GeneIDi 80823.
KEGGi hsa:80823.
UCSCi uc004ejo.3. human.

Organism-specific databases

CTDi 80823.
GeneCardsi GC0XP101975.
H-InvDB HIX0176723.
HGNCi HGNC:29353. BHLHB9.
HPAi HPA020457.
MIMi 300921. gene.
neXtProti NX_Q6PI77.
PharmGKBi PA134895992.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG39230.
HOGENOMi HOG000095228.
HOVERGENi HBG098352.
InParanoidi Q6PI77.
OMAi TTDPLIH.
OrthoDBi EOG70PBZ0.
PhylomeDBi Q6PI77.
TreeFami TF335652.

Miscellaneous databases

GenomeRNAii 80823.
NextBioi 71228.
PROi Q6PI77.
SOURCEi Search...

Gene expression databases

Bgeei Q6PI77.
CleanExi HS_BHLHB9.
Genevestigatori Q6PI77.

Family and domain databases

Gene3Di 1.25.10.10. 1 hit.
InterProi IPR011989. ARM-like.
IPR006911. ARM-rpt_dom.
IPR016024. ARM-type_fold.
[Graphical view ]
Pfami PF04826. Arm_2. 1 hit.
[Graphical view ]
SUPFAMi SSF48371. SSF48371. 1 hit.
ProtoNeti Search...

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: July 9, 2014
This is version 84 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.

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

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