ID   SCX_HUMAN               Reviewed;         201 AA.
AC   Q7RTU7;
DT   23-JAN-2007, integrated into UniProtKB/Swiss-Prot.
DT   15-DEC-2003, sequence version 1.
DT   24-JAN-2024, entry version 146.
DE   RecName: Full=Basic helix-loop-helix transcription factor scleraxis;
DE   AltName: Full=Class A basic helix-loop-helix protein 41;
DE            Short=bHLHa41;
DE   AltName: Full=Class A basic helix-loop-helix protein 48;
DE            Short=bHLHa48;
GN   Name=SCX; Synonyms=BHLHA41, BHLHA48, SCXA, SCXB;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16421571; DOI=10.1038/nature04406;
RA   Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA   Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA   Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA   Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA   Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA   Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA   Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA   Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA   Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA   O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA   Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA   Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA   Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA   Platzer M., Shimizu N., Lander E.S.;
RT   "DNA sequence and analysis of human chromosome 8.";
RL   Nature 439:331-335(2006).
RN   [2]
RP   IDENTIFICATION.
RX   PubMed=12617822; DOI=10.1016/s0925-4773(02)00390-8;
RA   McLellan A.S., Langlands K., Kealey T.;
RT   "Exhaustive identification of human class II basic helix-loop-helix
RT   proteins by virtual library screening.";
RL   Gene Expr. Patterns 2:329-335(2002).
CC   -!- FUNCTION: Plays an early essential role in mesoderm formation, as well
CC       as a later role in formation of somite-derived chondrogenic lineages.
CC       {ECO:0000250}.
CC   -!- SUBUNIT: Efficient DNA binding requires dimerization with another bHLH
CC       protein. Dimerizes and binds the E-box consensus sequence with E12 (By
CC       similarity). {ECO:0000250}.
CC   -!- INTERACTION:
CC       Q7RTU7; P13349: MYF5; NbExp=3; IntAct=EBI-17492262, EBI-17491620;
CC       Q7RTU7; O43639: NCK2; NbExp=3; IntAct=EBI-17492262, EBI-713635;
CC       Q7RTU7; P15884-3: TCF4; NbExp=3; IntAct=EBI-17492262, EBI-13636688;
CC   -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}.
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DR   EMBL; AC145291; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BK000280; DAA00239.1; -; Genomic_DNA.
DR   CCDS; CCDS43779.1; -.
DR   RefSeq; NP_001073983.1; NM_001080514.2.
DR   RefSeq; XP_006716679.1; XM_006716616.2.
DR   AlphaFoldDB; Q7RTU7; -.
DR   SMR; Q7RTU7; -.
DR   BioGRID; 568157; 6.
DR   IntAct; Q7RTU7; 3.
DR   STRING; 9606.ENSP00000476384; -.
DR   iPTMnet; Q7RTU7; -.
DR   PhosphoSitePlus; Q7RTU7; -.
DR   BioMuta; SCX; -.
DR   DMDM; 74749943; -.
DR   MassIVE; Q7RTU7; -.
DR   PaxDb; 9606-ENSP00000476384; -.
DR   PeptideAtlas; Q7RTU7; -.
DR   ProteomicsDB; 68909; -.
DR   Antibodypedia; 72507; 120 antibodies from 19 providers.
DR   DNASU; 642658; -.
DR   Ensembl; ENST00000567180.3; ENSP00000476384.1; ENSG00000260428.3.
DR   GeneID; 642658; -.
DR   KEGG; hsa:642658; -.
DR   MANE-Select; ENST00000567180.3; ENSP00000476384.1; NM_001080514.3; NP_001073983.1.
DR   UCSC; uc003zbn.4; human.
DR   AGR; HGNC:32322; -.
DR   CTD; 642658; -.
DR   GeneCards; SCX; -.
DR   HGNC; HGNC:32322; SCX.
DR   HPA; ENSG00000260428; Tissue enhanced (brain, thyroid gland).
DR   MIM; 609067; gene.
DR   neXtProt; NX_Q7RTU7; -.
DR   OpenTargets; ENSG00000260428; -.
DR   PharmGKB; PA142670943; -.
DR   VEuPathDB; HostDB:ENSG00000260428; -.
DR   eggNOG; KOG4029; Eukaryota.
DR   GeneTree; ENSGT00940000161897; -.
DR   HOGENOM; CLU_115077_0_0_1; -.
DR   InParanoid; Q7RTU7; -.
DR   OMA; RINREPR; -.
DR   OrthoDB; 3476499at2759; -.
DR   PhylomeDB; Q7RTU7; -.
DR   TreeFam; TF315153; -.
DR   PathwayCommons; Q7RTU7; -.
DR   SignaLink; Q7RTU7; -.
DR   SIGNOR; Q7RTU7; -.
DR   BioGRID-ORCS; 642658; 12 hits in 755 CRISPR screens.
DR   GeneWiki; LOC642658; -.
DR   GenomeRNAi; 642658; -.
DR   Pharos; Q7RTU7; Tbio.
DR   PRO; PR:Q7RTU7; -.
DR   Proteomes; UP000005640; Chromosome 8.
DR   RNAct; Q7RTU7; Protein.
DR   Bgee; ENSG00000260428; Expressed in thymus and 93 other cell types or tissues.
DR   GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR   GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR   GO; GO:0005667; C:transcription regulator complex; IDA:UniProtKB.
DR   GO; GO:0043425; F:bHLH transcription factor binding; IPI:UniProtKB.
DR   GO; GO:0003677; F:DNA binding; ISS:UniProtKB.
DR   GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IDA:GO_Central.
DR   GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR   GO; GO:0070888; F:E-box binding; IEA:Ensembl.
DR   GO; GO:0046983; F:protein dimerization activity; IEA:InterPro.
DR   GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR   GO; GO:0043565; F:sequence-specific DNA binding; ISS:UniProtKB.
DR   GO; GO:0030509; P:BMP signaling pathway; ISS:UniProtKB.
DR   GO; GO:0030154; P:cell differentiation; ISS:UniProtKB.
DR   GO; GO:0071260; P:cellular response to mechanical stimulus; IEA:Ensembl.
DR   GO; GO:0071560; P:cellular response to transforming growth factor beta stimulus; IEA:Ensembl.
DR   GO; GO:0002062; P:chondrocyte differentiation; ISS:UniProtKB.
DR   GO; GO:0030199; P:collagen fibril organization; ISS:UniProtKB.
DR   GO; GO:0035993; P:deltoid tuberosity development; ISS:UniProtKB.
DR   GO; GO:0032502; P:developmental process; IBA:GO_Central.
DR   GO; GO:0006351; P:DNA-templated transcription; ISS:UniProtKB.
DR   GO; GO:0048706; P:embryonic skeletal system development; IEA:Ensembl.
DR   GO; GO:0001958; P:endochondral ossification; ISS:UniProtKB.
DR   GO; GO:0060325; P:face morphogenesis; IEA:Ensembl.
DR   GO; GO:0003188; P:heart valve formation; ISS:UniProtKB.
DR   GO; GO:0003179; P:heart valve morphogenesis; ISS:UniProtKB.
DR   GO; GO:0001707; P:mesoderm formation; ISS:UniProtKB.
DR   GO; GO:0043066; P:negative regulation of apoptotic process; ISS:UniProtKB.
DR   GO; GO:0045892; P:negative regulation of DNA-templated transcription; IEA:Ensembl.
DR   GO; GO:0061036; P:positive regulation of cartilage development; ISS:UniProtKB.
DR   GO; GO:0008284; P:positive regulation of cell population proliferation; ISS:UniProtKB.
DR   GO; GO:0032967; P:positive regulation of collagen biosynthetic process; ISS:UniProtKB.
DR   GO; GO:0045893; P:positive regulation of DNA-templated transcription; ISS:UniProtKB.
DR   GO; GO:2000543; P:positive regulation of gastrulation; ISS:UniProtKB.
DR   GO; GO:0010628; P:positive regulation of gene expression; ISS:UniProtKB.
DR   GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:GO_Central.
DR   GO; GO:0061035; P:regulation of cartilage development; ISS:UniProtKB.
DR   GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR   GO; GO:0061056; P:sclerotome development; IEA:Ensembl.
DR   GO; GO:0060008; P:Sertoli cell differentiation; ISS:UniProtKB.
DR   GO; GO:0035914; P:skeletal muscle cell differentiation; IEA:Ensembl.
DR   GO; GO:0035990; P:tendon cell differentiation; ISS:UniProtKB.
DR   GO; GO:0035989; P:tendon development; ISS:UniProtKB.
DR   GO; GO:0035992; P:tendon formation; ISS:UniProtKB.
DR   GO; GO:0001894; P:tissue homeostasis; ISS:UniProtKB.
DR   CDD; cd18951; bHLH_TS_scleraxis; 1.
DR   Gene3D; 4.10.280.10; Helix-loop-helix DNA-binding domain; 1.
DR   InterPro; IPR011598; bHLH_dom.
DR   InterPro; IPR036638; HLH_DNA-bd_sf.
DR   PANTHER; PTHR23349:SF5; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTOR SCLERAXIS; 1.
DR   PANTHER; PTHR23349; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTOR, TWIST; 1.
DR   Pfam; PF00010; HLH; 1.
DR   SMART; SM00353; HLH; 1.
DR   SUPFAM; SSF47459; HLH, helix-loop-helix DNA-binding domain; 1.
DR   PROSITE; PS50888; BHLH; 1.
PE   1: Evidence at protein level;
KW   Activator; Developmental protein; DNA-binding; Nucleus; Reference proteome;
KW   Transcription; Transcription regulation.
FT   CHAIN           1..201
FT                   /note="Basic helix-loop-helix transcription factor
FT                   scleraxis"
FT                   /id="PRO_0000273317"
FT   DOMAIN          75..127
FT                   /note="bHLH"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00981"
FT   REGION          1..92
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          148..177
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        20..43
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        71..85
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        154..170
FT                   /note="Pro residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ   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
//