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SCX scleraxis bHLH transcription factor [ Homo sapiens (human) ]

Gene ID: 642658, updated on 7-Jun-2020

Summary

Official Symbol
SCXprovided by HGNC
Official Full Name
scleraxis bHLH transcription factorprovided by HGNC
Primary source
HGNC:HGNC:32322
See related
Ensembl:ENSG00000260428 MIM:609067
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SCXA; SCXB; bHLHa48
Annotation information
Note: In the NCBI Build GRCh37 reference assembly SCXA and SCXB are duplicate genes in close proximity to each other on chromosome 8. In August, 2010 the Genome Reference Consortium determined that the region contains a duplication error. The clone on which SCXA was based (AC110280.8) was be removed from the GRCh38 reference assembly and SCXB was retained and renamed to SCX. [27 Sep 2015]
Expression
Ubiquitous expression in appendix (RPKM 1.6), prostate (RPKM 1.6) and 25 other tissues See more
Orthologs

Genomic context

See SCX in Genome Data Viewer
Location:
8q24.3
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (144265060..144268483)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (145321517..145323045)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene maestro heat like repeat family member 1 Neighboring gene microRNA 7112 Neighboring gene BOP1 ribosomal biogenesis factor Neighboring gene heat shock transcription factor 1 Neighboring gene microRNA 6848 Neighboring gene diacylglycerol O-acyltransferase 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
contributes_to E-box binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bHLH transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein dimerization activity IEA
Inferred from Electronic Annotation
more info
 
sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
BMP signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
Sertoli cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to mechanical stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to transforming growth factor beta stimulus IEA
Inferred from Electronic Annotation
more info
 
chondrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
collagen fibril organization ISS
Inferred from Sequence or Structural Similarity
more info
 
deltoid tuberosity development ISS
Inferred from Sequence or Structural Similarity
more info
 
developmental process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
embryonic skeletal system development IEA
Inferred from Electronic Annotation
more info
 
endochondral ossification ISS
Inferred from Sequence or Structural Similarity
more info
 
face morphogenesis IEA
Inferred from Electronic Annotation
more info
 
heart valve formation ISS
Inferred from Sequence or Structural Similarity
more info
 
heart valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
mesoderm formation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cartilage development ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of collagen biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of gastrulation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cartilage development ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sclerotome development IEA
Inferred from Electronic Annotation
more info
 
skeletal muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
tendon cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
tendon development ISS
Inferred from Sequence or Structural Similarity
more info
 
tendon formation ISS
Inferred from Sequence or Structural Similarity
more info
 
tissue homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
basic helix-loop-helix transcription factor scleraxis
Names
class A basic helix-loop-helix protein 41
class A basic helix-loop-helix protein 48
class II bHLH protein scleraxis
scleraxis basic helix-loop-helix transcription factor
scleraxis homolog A
scleraxis homolog B

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001080514.3NP_001073983.1  basic helix-loop-helix transcription factor scleraxis

    See identical proteins and their annotated locations for NP_001073983.1

    Status: VALIDATED

    Source sequence(s)
    AC145291, BG230566, CB048390, CD672767
    Consensus CDS
    CCDS43779.1
    UniProtKB/Swiss-Prot
    Q7RTU7
    Related
    ENSP00000476384.1, ENST00000567180.3
    Conserved Domains (1) summary
    pfam00010
    Location:76127
    HLH; Helix-loop-helix DNA-binding domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    144265060..144268483
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006716616.2XP_006716679.1  basic helix-loop-helix transcription factor scleraxis isoform X1

    See identical proteins and their annotated locations for XP_006716679.1

    UniProtKB/Swiss-Prot
    Q7RTU7
    Conserved Domains (1) summary
    pfam00010
    Location:76127
    HLH; Helix-loop-helix DNA-binding domain

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001008271.1: Suppressed sequence

    Description
    NM_001008271.1: This RefSeq was permanently suppressed because it was found to be redundant for this gene family.
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