Q7RTU7 (SCX_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	SCXA
Synonyms:	BHLHA41, SCX
AND
Name:	SCXB
Synonyms:	BHLHA48, SCX

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	201 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Plays an early essential role in mesoderm formation, as well as a later role in formation of somite-derived chondrogenic lineages By similarity.
Subunit structure	Efficient DNA binding requires dimerization with another bHLH protein. Dimerizes and binds the E-box consensus sequence with E12 By similarity.
Subcellular location	Nucleus By similarity.
Sequence similarities	Contains 1 bHLH (basic helix-loop-helix) domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Ligand	DNA-binding
Molecular function	Activator Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	BMP signaling pathway Inferred from sequence or structural similarity. Source: UniProtKB Sertoli cell differentiation Inferred from sequence or structural similarity. Source: UniProtKB chondrocyte differentiation Inferred from sequence or structural similarity. Source: UniProtKB collagen fibril organization Inferred from sequence or structural similarity. Source: UniProtKB deltoid tuberosity development Inferred from sequence or structural similarity. Source: UniProtKB endochondral ossification Inferred from sequence or structural similarity. Source: UniProtKB heart valve formation Inferred from sequence or structural similarity. Source: UniProtKB mesoderm formation Inferred from sequence or structural similarity. Source: UniProtKB negative regulation of apoptotic process Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of cartilage development Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of cell proliferation Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of collagen biosynthetic process Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of gastrulation Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of transcription from RNA polymerase II promoter Inferred from sequence or structural similarity. Source: UniProtKB tendon cell differentiation Inferred from sequence or structural similarity. Source: UniProtKB tissue homeostasis Inferred from sequence or structural similarity. Source: UniProtKB transcription, DNA-dependent Inferred from direct assay PubMed 10775504. Source: UniProtKB
Cellular_component	transcription factor complex Inferred from direct assay PubMed 10775504. Source: UniProtKB
Molecular_function	protein heterodimerization activity Inferred from direct assay PubMed 10775504. Source: UniProtKB sequence-specific DNA binding Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 201	201	Basic helix-loop-helix transcription factor scleraxis		PRO_0000273317
Regions
	Domain	75 – 127	53	bHLH
	Compositional bias	158 – 166	9	Poly-Pro

Sequences

	Sequence		Length	Mass (Da)
	Q7RTU7 [UniParc]. Last modified December 15, 2003. Version 1. Checksum: 4FDF2D23F977032A	FASTA	201	21,596
	10 20 30 40 50 60 MSFATLRPAP PGRYLYPEVS PLSEDEDRGS DSSGSDEKPC RVHAARCGLQ GARRRAGGRR 70 80 90 100 110 120 AGGGGPGGRP GREPRQRHTA NARERDRTNS VNTAFTALRT LIPTEPADRK LSKIETLRLA 130 140 150 160 170 180 SSYISHLGNV LLAGEACGDG QPCHSGPAFF HAARAGSPPP PPPPPPARDG ENTQPKQICT 190 200 FCLSNQRKLS KDRDRKTAIR S

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AC110280 Genomic DNA. No translation available. AC145291 Genomic DNA. No translation available. BK000280 Genomic DNA. Translation: DAA00239.1.
IPI	IPI00394929.
RefSeq	NP_001008272.1. NM_001008271.1. NP_001073983.1. NM_001080514.1.
UniGene	Hs.553250. Hs.723088.
3D structure databases
ProteinModelPortal	Q7RTU7.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000342868.
PTM databases
PhosphoSite	Q7RTU7.
Proteomic databases
PaxDb	Q7RTU7.
PRIDE	Q7RTU7.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000340210; ENSP00000342868; ENSG00000187786. ENST00000340695; ENSP00000345599; ENSG00000188686.
GeneID	100129885. 642658.
KEGG	hsa:100129885. hsa:642658.
UCSC	uc003zbn.2. human.
Organism-specific databases
CTD	100129885. 642658.
GeneCards	GC08P145397. GC08P145490.
HGNC	HGNC:24312. SCXA. HGNC:32322. SCXB.
HPA	HPA043183.
MIM	609067. gene.
neXtProt	NX_Q7RTU7.
PharmGKB	PA142670943.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG288076.
HOGENOM	HOG000231706.
HOVERGEN	HBG036149.
InParanoid	Q7RTU7.
OMA	GSDEKPC.
OrthoDB	EOG4ZPDWJ.
PhylomeDB	Q7RTU7.
Gene expression databases
Bgee	Q7RTU7.
CleanEx	HS_SCXA.
Genevestigator	Q7RTU7.
Family and domain databases
Gene3D	4.10.280.10. 1 hit.
InterPro	IPR011598. bHLH_dom. [Graphical view]
Pfam	PF00010. HLH. 1 hit. [Graphical view]
SMART	SM00353. HLH. 1 hit. [Graphical view]
SUPFAM	SSF47459. HLH_basic. 1 hit.
PROSITE	PS50888. BHLH. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	114037.
SOURCE	Search...

Entry information

Entry name

SCX_HUMAN

Accession

Primary (citable) accession number: Q7RTU7

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 23, 2007
Last sequence update:	December 15, 2003
Last modified:	May 1, 2013
This is version 76 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.