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Protein

Class A basic helix-loop-helix protein 15

Gene

BHLHA15

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

Functioni

Plays a role in controlling the transcriptional activity of MYOD1, ensuring that expanding myoblast populations remain undifferentiated. Repression may occur through muscle-specific E-box occupancy by homodimers. May also negatively regulate bHLH-mediated transcription through an N-terminal repressor domain. Serves as a key regulator of acinar cell function, stability, and identity. Also required for normal organelle localization in exocrine cells and for mitochondrial calcium ion transport. May function as a unique regulator of gene expression in several different embryonic and postnatal cell lineages. Binds to the E-box consensus sequence 5'-CANNTG-3' (By similarity).By similarity

GO - Molecular functioni

  1. RNA polymerase II regulatory region sequence-specific DNA binding Source: Ensembl
  2. RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: Ensembl

GO - Biological processi

  1. calcium-mediated signaling Source: Ensembl
  2. cell-cell signaling Source: Ensembl
  3. cell maturation Source: Ensembl
  4. cellular response to glucose starvation Source: UniProtKB
  5. endoplasmic reticulum unfolded protein response Source: UniProtKB
  6. glucose homeostasis Source: Ensembl
  7. Golgi organization Source: Ensembl
  8. G-protein coupled receptor signaling pathway Source: Ensembl
  9. intracellular distribution of mitochondria Source: Ensembl
  10. mitochondrial calcium ion transport Source: Ensembl
  11. negative regulation of myotube differentiation Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Class A basic helix-loop-helix protein 15
Short name:
bHLHa15
Alternative name(s):
Class B basic helix-loop-helix protein 8
Short name:
bHLHb8
Muscle, intestine and stomach expression 1
Short name:
MIST-1
Gene namesi
Name:BHLHA15
Synonyms:BHLHB8, MIST1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:22265. BHLHA15.

Subcellular locationi

  1. Nucleus Curated

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA164716601.

Polymorphism and mutation databases

BioMutaiBHLHA15.
DMDMi50400944.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 189189Class A basic helix-loop-helix protein 15PRO_0000127150Add
BLAST

Proteomic databases

MaxQBiQ7RTS1.
PaxDbiQ7RTS1.
PRIDEiQ7RTS1.

PTM databases

PhosphoSiteiQ7RTS1.

Expressioni

Tissue specificityi

Expressed in brain, liver, spleen and skeletal muscle.1 Publication

Gene expression databases

BgeeiQ7RTS1.
GenevestigatoriQ7RTS1.

Organism-specific databases

HPAiCAB034083.
HPA047834.

Interactioni

Subunit structurei

Forms homodimers or heterodimers with TCF3 gene products E12 and E47. These dimers bind to the E-box site, however, heterodimer with MYOD1 does not bind target DNA (By similarity).By similarity

Protein-protein interaction databases

BioGridi127970. 1 interaction.
STRINGi9606.ENSP00000326391.

Structurei

3D structure databases

ProteinModelPortaliQ7RTS1.
SMRiQ7RTS1. Positions 76-128.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini75 – 12753bHLHPROSITE-ProRule annotationAdd
BLAST

Domaini

Lacks a classic transcription activation domain and instead possesses an N-terminal region capable of inhibiting heterologous activators.By similarity

Sequence similaritiesi

Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG299224.
GeneTreeiENSGT00680000099860.
HOGENOMiHOG000095227.
InParanoidiQ7RTS1.
KOiK08040.
OMAiPEPAKGL.
OrthoDBiEOG7GQXWR.
PhylomeDBiQ7RTS1.
TreeFamiTF315153.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
[Graphical view]
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q7RTS1-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MKTKNRPPRR RAPVQDTEAT PGEGTPDGSL PNPGPEPAKG LRSRPARAAA
60 70 80 90 100
RAPGEGRRRR PGPSGPGGRR DSSIQRRLES NERERQRMHK LNNAFQALRE
110 120 130 140 150
VIPHVRADKK LSKIETLTLA KNYIKSLTAT ILTMSSSRLP GLEGPGPKLY
160 170 180
QHYQQQQQVA GGALGATEAQ PQGHLQRYST QIHSFREGT
Length:189
Mass (Da):20,818
Last modified:December 15, 2003 - v1
Checksum:i38D7230D85F16D22
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC025605 Genomic DNA. No translation available.
CH236956 Genomic DNA. Translation: EAL23893.1.
BC113394 mRNA. Translation: AAI13395.1.
BC113396 mRNA. Translation: AAI13397.1.
BK000276 mRNA. Translation: DAA01056.1.
CCDSiCCDS5655.1.
RefSeqiNP_803238.1. NM_177455.3.
UniGeneiHs.674510.

Genome annotation databases

EnsembliENST00000314018; ENSP00000326391; ENSG00000180535.
ENST00000609256; ENSP00000476312; ENSG00000180535.
GeneIDi168620.
KEGGihsa:168620.
UCSCiuc003upe.1. human.

Polymorphism and mutation databases

BioMutaiBHLHA15.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC025605 Genomic DNA. No translation available.
CH236956 Genomic DNA. Translation: EAL23893.1.
BC113394 mRNA. Translation: AAI13395.1.
BC113396 mRNA. Translation: AAI13397.1.
BK000276 mRNA. Translation: DAA01056.1.
CCDSiCCDS5655.1.
RefSeqiNP_803238.1. NM_177455.3.
UniGeneiHs.674510.

3D structure databases

ProteinModelPortaliQ7RTS1.
SMRiQ7RTS1. Positions 76-128.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127970. 1 interaction.
STRINGi9606.ENSP00000326391.

PTM databases

PhosphoSiteiQ7RTS1.

Polymorphism and mutation databases

BioMutaiBHLHA15.
DMDMi50400944.

Proteomic databases

MaxQBiQ7RTS1.
PaxDbiQ7RTS1.
PRIDEiQ7RTS1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000314018; ENSP00000326391; ENSG00000180535.
ENST00000609256; ENSP00000476312; ENSG00000180535.
GeneIDi168620.
KEGGihsa:168620.
UCSCiuc003upe.1. human.

Organism-specific databases

CTDi168620.
GeneCardsiGC07P097841.
HGNCiHGNC:22265. BHLHA15.
HPAiCAB034083.
HPA047834.
MIMi608606. gene.
neXtProtiNX_Q7RTS1.
PharmGKBiPA164716601.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG299224.
GeneTreeiENSGT00680000099860.
HOGENOMiHOG000095227.
InParanoidiQ7RTS1.
KOiK08040.
OMAiPEPAKGL.
OrthoDBiEOG7GQXWR.
PhylomeDBiQ7RTS1.
TreeFamiTF315153.

Miscellaneous databases

GeneWikiiBHLHB8.
GenomeRNAii168620.
NextBioi88762.
PROiQ7RTS1.
SOURCEiSearch...

Gene expression databases

BgeeiQ7RTS1.
GenevestigatoriQ7RTS1.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
[Graphical view]
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "The DNA sequence of human chromosome 7."
    Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
    , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
    Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "Human chromosome 7: DNA sequence and biology."
    Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
    , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
    Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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].
  4. "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, TISSUE SPECIFICITY.
  5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiBHA15_HUMAN
AccessioniPrimary (citable) accession number: Q7RTS1
Secondary accession number(s): A4D271, Q14DE4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: December 15, 2003
Last modified: April 29, 2015
This is version 95 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. 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.