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

Gene ID: 642658, updated on 18-Sep-2024

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; AllianceGenome:HGNC:32322
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
Summary
Enables DNA-binding transcription activator activity, RNA polymerase II-specific and bHLH transcription factor binding activity. Contributes to E-box binding activity. Involved in positive regulation of transcription by RNA polymerase II. Located in nucleus. Part of transcription regulator complex. [provided by Alliance of Genome Resources, Apr 2022]
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
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Genomic context

See SCX in Genome Data Viewer
Location:
8q24.3
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (144266453..144268481)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (145433863..145437284)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (145321356..145323384)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19664 Neighboring gene maestro heat like repeat family member 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:145220181-145220332 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145220890-145221390 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145222845-145223346 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145223347-145223846 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145225713-145226214 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145233092-145233905 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145235445-145236162 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:145236968-145237140 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145239293-145239836 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19665 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145321725-145322492 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145322493-145323258 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145494989-145495632 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145495633-145496276 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19668 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145498855-145499497 Neighboring gene microRNA 7112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19669 Neighboring gene BOP1 ribosomal biogenesis factor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19670 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19671 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145515765-145516421 Neighboring gene heat shock transcription factor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145536471-145537002 Neighboring gene uncharacterized LOC124902050 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28092 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28093 Neighboring gene microRNA 6848 Neighboring gene diacylglycerol O-acyltransferase 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

Gene Ontology Provided by GOA

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

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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
    cd18951
    Location:73140
    bHLH_TS_scleraxis; basic helix-loop-helix (bHLH) domain found in scleraxis and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    144266453..144268481
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    145433863..145437284
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054361007.1XP_054216982.1  basic helix-loop-helix transcription factor scleraxis isoform X1

    UniProtKB/Swiss-Prot
    Q7RTU7

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.