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Q7RTU7

- SCX_HUMAN

UniProt

Q7RTU7 - SCX_HUMAN

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Protein

Basic helix-loop-helix transcription factor scleraxis

Gene

SCX

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

Functioni

Plays an early essential role in mesoderm formation, as well as a later role in formation of somite-derived chondrogenic lineages.By similarity

GO - Molecular functioni

  1. bHLH transcription factor binding Source: UniProtKB
  2. DNA binding Source: UniProtKB
  3. E-box binding Source: Ensembl
  4. protein heterodimerization activity Source: UniProtKB
  5. sequence-specific DNA binding Source: UniProtKB

GO - Biological processi

  1. BMP signaling pathway Source: UniProtKB
  2. cell differentiation Source: UniProtKB
  3. cellular response to BMP stimulus Source: Ensembl
  4. cellular response to mechanical stimulus Source: Ensembl
  5. cellular response to transforming growth factor beta stimulus Source: Ensembl
  6. chondrocyte differentiation Source: UniProtKB
  7. collagen fibril organization Source: UniProtKB
  8. deltoid tuberosity development Source: UniProtKB
  9. embryonic skeletal system development Source: Ensembl
  10. endochondral ossification Source: UniProtKB
  11. face morphogenesis Source: Ensembl
  12. heart valve formation Source: UniProtKB
  13. heart valve morphogenesis Source: UniProtKB
  14. mesoderm formation Source: UniProtKB
  15. negative regulation of apoptotic process Source: UniProtKB
  16. negative regulation of transcription, DNA-templated Source: Ensembl
  17. positive regulation of cartilage development Source: UniProtKB
  18. positive regulation of cell proliferation Source: UniProtKB
  19. positive regulation of collagen biosynthetic process Source: UniProtKB
  20. positive regulation of gastrulation Source: UniProtKB
  21. positive regulation of gene expression Source: UniProtKB
  22. positive regulation of transcription, DNA-templated Source: UniProtKB
  23. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  24. regulation of cartilage development Source: UniProtKB
  25. sclerotome development Source: Ensembl
  26. Sertoli cell differentiation Source: UniProtKB
  27. skeletal muscle cell differentiation Source: Ensembl
  28. tendon cell differentiation Source: UniProtKB
  29. tendon development Source: UniProtKB
  30. tendon formation Source: UniProtKB
  31. tissue homeostasis Source: UniProtKB
  32. transcription, DNA-templated Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Activator, Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Basic helix-loop-helix transcription factor scleraxis
Alternative name(s):
Class A basic helix-loop-helix protein 41
Short name:
bHLHa41
Class A basic helix-loop-helix protein 48
Short name:
bHLHa48
Gene namesi
Name:SCX
Synonyms:BHLHA41, BHLHA48, SCXA, SCXB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:32322. SCX.

Subcellular locationi

Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  1. nucleus Source: UniProtKB
  2. transcription factor complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142670943.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 201201Basic helix-loop-helix transcription factor scleraxisPRO_0000273317Add
BLAST

Proteomic databases

PaxDbiQ7RTU7.
PRIDEiQ7RTU7.

PTM databases

PhosphoSiteiQ7RTU7.

Expressioni

Gene expression databases

BgeeiQ7RTU7.
CleanExiHS_SCXA.
GenevestigatoriQ7RTU7.

Organism-specific databases

HPAiHPA043183.

Interactioni

Subunit structurei

Efficient DNA binding requires dimerization with another bHLH protein. Dimerizes and binds the E-box consensus sequence with E12 (By similarity).By similarity

Protein-protein interaction databases

BioGridi130613. 3 interactions.
STRINGi9606.ENSP00000342868.

Structurei

3D structure databases

ProteinModelPortaliQ7RTU7.
SMRiQ7RTU7. Positions 70-131.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

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

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi158 – 1669Poly-Pro

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiNOG288076.
GeneTreeiENSGT00760000119097.
HOGENOMiHOG000231706.
HOVERGENiHBG036149.
InParanoidiQ7RTU7.
OMAiGRYLYPE.
OrthoDBiEOG7G1V82.
PhylomeDBiQ7RTU7.
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.

Q7RTU7-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MSFATLRPAP PGRYLYPEVS PLSEDEDRGS DSSGSDEKPC RVHAARCGLQ
60 70 80 90 100
GARRRAGGRR AGGGGPGGRP GREPRQRHTA NARERDRTNS VNTAFTALRT
110 120 130 140 150
LIPTEPADRK LSKIETLRLA SSYISHLGNV LLAGEACGDG QPCHSGPAFF
160 170 180 190 200
HAARAGSPPP PPPPPPARDG ENTQPKQICT FCLSNQRKLS KDRDRKTAIR

S
Length:201
Mass (Da):21,596
Last modified:December 15, 2003 - v1
Checksum:i4FDF2D23F977032A
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC145291 Genomic DNA. No translation available.
BK000280 Genomic DNA. Translation: DAA00239.1.
CCDSiCCDS43779.1.
RefSeqiNP_001073983.1. NM_001080514.2.
XP_006716679.1. XM_006716616.1.
UniGeneiHs.553250.
Hs.723088.

Genome annotation databases

EnsembliENST00000567180; ENSP00000476384; ENSG00000260428.
GeneIDi642658.
KEGGihsa:642658.
UCSCiuc003zbn.2. human.

Polymorphism databases

DMDMi74749943.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC145291 Genomic DNA. No translation available.
BK000280 Genomic DNA. Translation: DAA00239.1 .
CCDSi CCDS43779.1.
RefSeqi NP_001073983.1. NM_001080514.2.
XP_006716679.1. XM_006716616.1.
UniGenei Hs.553250.
Hs.723088.

3D structure databases

ProteinModelPortali Q7RTU7.
SMRi Q7RTU7. Positions 70-131.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 130613. 3 interactions.
STRINGi 9606.ENSP00000342868.

PTM databases

PhosphoSitei Q7RTU7.

Polymorphism databases

DMDMi 74749943.

Proteomic databases

PaxDbi Q7RTU7.
PRIDEi Q7RTU7.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000567180 ; ENSP00000476384 ; ENSG00000260428 .
GeneIDi 642658.
KEGGi hsa:642658.
UCSCi uc003zbn.2. human.

Organism-specific databases

CTDi 642658.
GeneCardsi GC08P145397.
GC08P145490.
HGNCi HGNC:32322. SCX.
HPAi HPA043183.
MIMi 609067. gene.
neXtProti NX_Q7RTU7.
PharmGKBi PA142670943.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG288076.
GeneTreei ENSGT00760000119097.
HOGENOMi HOG000231706.
HOVERGENi HBG036149.
InParanoidi Q7RTU7.
OMAi GRYLYPE.
OrthoDBi EOG7G1V82.
PhylomeDBi Q7RTU7.
TreeFami TF315153.

Miscellaneous databases

GeneWikii LOC642658.
NextBioi 114037.
PROi Q7RTU7.
SOURCEi Search...

Gene expression databases

Bgeei Q7RTU7.
CleanExi HS_SCXA.
Genevestigatori Q7RTU7.

Family and domain databases

Gene3Di 4.10.280.10. 1 hit.
InterProi IPR011598. bHLH_dom.
[Graphical view ]
Pfami PF00010. HLH. 1 hit.
[Graphical view ]
SMARTi SM00353. HLH. 1 hit.
[Graphical view ]
SUPFAMi SSF47459. SSF47459. 1 hit.
PROSITEi PS50888. BHLH. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "DNA sequence and analysis of human chromosome 8."
    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.
    Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening."
    McLellan A.S., Langlands K., Kealey T.
    Gene Expr. Patterns 2:329-335(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION.

Entry informationi

Entry nameiSCX_HUMAN
AccessioniPrimary (citable) accession number: Q7RTU7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 23, 2007
Last sequence update: December 15, 2003
Last modified: October 29, 2014
This is version 88 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 8
    Human chromosome 8: 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