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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

GO - Biological processi

Keywordsi

Molecular functionDNA-binding, Repressor
Biological processTranscription, Transcription regulation

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
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000180535.3.
HGNCiHGNC:22265. BHLHA15.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi168620.
OpenTargetsiENSG00000180535.
PharmGKBiPA164716601.

Polymorphism and mutation databases

BioMutaiBHLHA15.
DMDMi50400944.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001271501 – 189Class A basic helix-loop-helix protein 15Add BLAST189

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei25PhosphothreonineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ7RTS1.
MaxQBiQ7RTS1.
PaxDbiQ7RTS1.
PeptideAtlasiQ7RTS1.
PRIDEiQ7RTS1.

PTM databases

iPTMnetiQ7RTS1.
PhosphoSitePlusiQ7RTS1.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000180535.

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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi127970. 45 interactors.
IntActiQ7RTS1. 2 interactors.
STRINGi9606.ENSP00000326391.

Structurei

3D structure databases

ProteinModelPortaliQ7RTS1.
SMRiQ7RTS1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini75 – 127bHLHPROSITE-ProRule annotationAdd BLAST53

Domaini

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

Phylogenomic databases

eggNOGiENOG410IQ4H. Eukaryota.
ENOG4111ZMK. LUCA.
GeneTreeiENSGT00680000099860.
HOGENOMiHOG000095227.
InParanoidiQ7RTS1.
KOiK08040.
OMAiHRYSTQI.
OrthoDBiEOG091G15AI.
PhylomeDBiQ7RTS1.
TreeFamiTF315153.

Family and domain databases

CDDicd00083. HLH. 1 hit.
Gene3Di4.10.280.10. 1 hit.
InterProiView protein in InterPro
IPR011598. bHLH_dom.
IPR036638. HLH_DNA-bd_sf.
PfamiView protein in Pfam
PF00010. HLH. 1 hit.
SMARTiView protein in SMART
SM00353. HLH. 1 hit.
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiView protein in PROSITE
PS50888. BHLH. 1 hit.

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.511979.
Hs.674510.

Genome annotation databases

EnsembliENST00000314018; ENSP00000326391; ENSG00000180535.
ENST00000609256; ENSP00000476312; ENSG00000180535.
GeneIDi168620.
KEGGihsa:168620.
UCSCiuc003upe.2. human.

Similar proteinsi

Entry informationi

Entry nameiBHA15_HUMAN
AccessioniPrimary (citable) accession number: Q7RTS1
Secondary accession number(s): A4D271, Q14DE4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: December 15, 2003
Last modified: October 25, 2017
This is version 115 of the entry and version 1 of the sequence. See 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