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Basic helix-loop-helix transcription factor scleraxis (Class A basic helix-loop-helix protein 41) (bHLHa41) (Class A basic helix-loop-helix protein 48) (bHLHa48)

 SCX_HUMAN               Reviewed;         201 AA.
Q7RTU7;
23-JAN-2007, integrated into UniProtKB/Swiss-Prot.
15-DEC-2003, sequence version 1.
23-MAY-2018, entry version 112.
RecName: Full=Basic helix-loop-helix transcription factor scleraxis;
AltName: Full=Class A basic helix-loop-helix protein 41;
Short=bHLHa41;
AltName: Full=Class A basic helix-loop-helix protein 48;
Short=bHLHa48;
Name=SCX; Synonyms=BHLHA41, BHLHA48, SCXA, SCXB;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16421571; DOI=10.1038/nature04406;
Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S.,
Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A.,
Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
Allen N.R., Anderson S., Asakawa T., Blechschmidt K., Bloom T.,
Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K.,
DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G.,
Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B.,
Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C.,
O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K.,
Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R.,
Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K.,
Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q.,
Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N.,
Lander E.S.;
"DNA sequence and analysis of human chromosome 8.";
Nature 439:331-335(2006).
[2]
IDENTIFICATION.
PubMed=12617822; DOI=10.1016/S0925-4773(02)00390-8;
McLellan A.S., Langlands K., Kealey T.;
"Exhaustive identification of human class II basic helix-loop-helix
proteins by virtual library screening.";
Gene Expr. Patterns 2:329-335(2002).
-!- FUNCTION: Plays an early essential role in mesoderm formation, as
well as a later role in formation of somite-derived chondrogenic
lineages. {ECO:0000250}.
-!- SUBUNIT: Efficient DNA binding requires dimerization with another
bHLH protein. Dimerizes and binds the E-box consensus sequence
with E12 (By similarity). {ECO:0000250}.
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-
ProRule:PRU00981}.
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EMBL; AC145291; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BK000280; DAA00239.1; -; Genomic_DNA.
CCDS; CCDS43779.1; -.
RefSeq; NP_001073983.1; NM_001080514.2.
RefSeq; XP_006716679.1; XM_006716616.2.
UniGene; Hs.553250; -.
UniGene; Hs.723088; -.
ProteinModelPortal; Q7RTU7; -.
SMR; Q7RTU7; -.
BioGrid; 568157; 3.
STRING; 9606.ENSP00000345599; -.
iPTMnet; Q7RTU7; -.
PhosphoSitePlus; Q7RTU7; -.
DMDM; 74749943; -.
PaxDb; Q7RTU7; -.
PeptideAtlas; Q7RTU7; -.
PRIDE; Q7RTU7; -.
Ensembl; ENST00000567180; ENSP00000476384; ENSG00000260428.
GeneID; 642658; -.
KEGG; hsa:642658; -.
UCSC; uc003zbn.4; human.
CTD; 642658; -.
EuPathDB; HostDB:ENSG00000260428.2; -.
GeneCards; SCX; -.
HGNC; HGNC:32322; SCX.
HPA; HPA043183; -.
MIM; 609067; gene.
neXtProt; NX_Q7RTU7; -.
OpenTargets; ENSG00000260428; -.
PharmGKB; PA142670943; -.
eggNOG; KOG4029; Eukaryota.
eggNOG; ENOG411227D; LUCA.
GeneTree; ENSGT00760000119097; -.
HOGENOM; HOG000231706; -.
HOVERGEN; HBG036149; -.
InParanoid; Q7RTU7; -.
OMA; GQPCHTT; -.
OrthoDB; EOG091G0RR2; -.
PhylomeDB; Q7RTU7; -.
TreeFam; TF315153; -.
GeneWiki; LOC642658; -.
GenomeRNAi; 642658; -.
PRO; PR:Q7RTU7; -.
Proteomes; UP000005640; Chromosome 8.
Bgee; ENSG00000260428; -.
CleanEx; HS_SCXA; -.
GO; GO:0005634; C:nucleus; IDA:UniProtKB.
GO; GO:0005667; C:transcription factor complex; IDA:UniProtKB.
GO; GO:0043425; F:bHLH transcription factor binding; IPI:UniProtKB.
GO; GO:0003677; F:DNA binding; ISS:UniProtKB.
GO; GO:0070888; F:E-box binding; IEA:Ensembl.
GO; GO:0046982; F:protein heterodimerization activity; IDA:UniProtKB.
GO; GO:0000980; F:RNA polymerase II distal enhancer sequence-specific DNA binding; IEA:Ensembl.
GO; GO:0000981; F:RNA polymerase II transcription factor activity, sequence-specific DNA binding; ISA:NTNU_SB.
GO; GO:0043565; F:sequence-specific DNA binding; ISS:UniProtKB.
GO; GO:0001205; F:transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific DNA binding; IEA:Ensembl.
GO; GO:0030509; P:BMP signaling pathway; ISS:UniProtKB.
GO; GO:0030154; P:cell differentiation; ISS:UniProtKB.
GO; GO:0071260; P:cellular response to mechanical stimulus; IEA:Ensembl.
GO; GO:0071560; P:cellular response to transforming growth factor beta stimulus; IEA:Ensembl.
GO; GO:0002062; P:chondrocyte differentiation; ISS:UniProtKB.
GO; GO:0030199; P:collagen fibril organization; ISS:UniProtKB.
GO; GO:0035993; P:deltoid tuberosity development; ISS:UniProtKB.
GO; GO:0048706; P:embryonic skeletal system development; IEA:Ensembl.
GO; GO:0001958; P:endochondral ossification; ISS:UniProtKB.
GO; GO:0060325; P:face morphogenesis; IEA:Ensembl.
GO; GO:0003188; P:heart valve formation; ISS:UniProtKB.
GO; GO:0003179; P:heart valve morphogenesis; ISS:UniProtKB.
GO; GO:0001707; P:mesoderm formation; ISS:UniProtKB.
GO; GO:0043066; P:negative regulation of apoptotic process; ISS:UniProtKB.
GO; GO:0045892; P:negative regulation of transcription, DNA-templated; IEA:Ensembl.
GO; GO:0061036; P:positive regulation of cartilage development; ISS:UniProtKB.
GO; GO:0008284; P:positive regulation of cell proliferation; ISS:UniProtKB.
GO; GO:0032967; P:positive regulation of collagen biosynthetic process; ISS:UniProtKB.
GO; GO:2000543; P:positive regulation of gastrulation; ISS:UniProtKB.
GO; GO:0010628; P:positive regulation of gene expression; ISS:UniProtKB.
GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; ISS:UniProtKB.
GO; GO:0045893; P:positive regulation of transcription, DNA-templated; ISS:UniProtKB.
GO; GO:0061035; P:regulation of cartilage development; ISS:UniProtKB.
GO; GO:0061056; P:sclerotome development; IEA:Ensembl.
GO; GO:0060008; P:Sertoli cell differentiation; ISS:UniProtKB.
GO; GO:0035914; P:skeletal muscle cell differentiation; IEA:Ensembl.
GO; GO:0035990; P:tendon cell differentiation; ISS:UniProtKB.
GO; GO:0035989; P:tendon development; ISS:UniProtKB.
GO; GO:0035992; P:tendon formation; ISS:UniProtKB.
GO; GO:0001894; P:tissue homeostasis; ISS:UniProtKB.
GO; GO:0006351; P:transcription, DNA-templated; IDA:UniProtKB.
CDD; cd00083; HLH; 1.
Gene3D; 4.10.280.10; -; 1.
InterPro; IPR011598; bHLH_dom.
InterPro; IPR036638; HLH_DNA-bd_sf.
Pfam; PF00010; HLH; 1.
SMART; SM00353; HLH; 1.
SUPFAM; SSF47459; SSF47459; 1.
PROSITE; PS50888; BHLH; 1.
3: Inferred from homology;
Activator; Complete proteome; Developmental protein; DNA-binding;
Nucleus; Reference proteome; Transcription; Transcription regulation.
CHAIN 1 201 Basic helix-loop-helix transcription
factor scleraxis.
/FTId=PRO_0000273317.
DOMAIN 75 127 bHLH. {ECO:0000255|PROSITE-
ProRule:PRU00981}.
COMPBIAS 158 166 Poly-Pro.
SEQUENCE 201 AA; 21596 MW; 4FDF2D23F977032A CRC64;
MSFATLRPAP PGRYLYPEVS PLSEDEDRGS DSSGSDEKPC RVHAARCGLQ GARRRAGGRR
AGGGGPGGRP GREPRQRHTA NARERDRTNS VNTAFTALRT LIPTEPADRK LSKIETLRLA
SSYISHLGNV LLAGEACGDG QPCHSGPAFF HAARAGSPPP PPPPPPARDG ENTQPKQICT
FCLSNQRKLS KDRDRKTAIR S


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