Hs05937552_cn

• Gene Symbol: SMAD1
• Assay Reference Genome Location: Chr.4:145482325 on build GRCh38
• Cytoband: 4q31.21

Target Gene Details

• Entrez Gene ID: 4086
• Gene Name: SMAD family member 1
• Gene Aliases: BSP-1, BSP1, JV4-1, JV41, MADH1, MADR1
• Location: Chr.4:145481306-145559176 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SMAD1	NM_005900.2			NP_005891.1
	XM_006714217.2			XP_006714280.1
	XM_011531961.1			XP_011530263.1
	BC001878.1			AAH01878.1
	BQ962660.1
	BU163870.1
	U59423.1			AAB06852.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1074222	Chr.4:145482047 - 145482448 on Build GRCh38	Deletion	SMAD1

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

DNA-binding transcription factor, gene-specific transcriptional regulator

Gene Ontology Categories:

Process(es)

MAPK cascade
ureteric bud development
mesodermal cell fate commitment
osteoblast fate commitment
transcription from RNA polymerase II promoter
inflammatory response
signal transduction
transforming growth factor beta receptor signaling pathway
SMAD protein complex assembly
gamete generation
negative regulation of cell proliferation
embryonic pattern specification
positive regulation of gene expression
BMP signaling pathway
midbrain development
hindbrain development
primary miRNA processing
homeostatic process
positive regulation of osteoblast differentiation
positive regulation of transcription from RNA polymerase II promoter
cartilage development
cardiac muscle cell proliferation
bone development
SMAD protein signal transduction
positive regulation of cartilage development
positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus

Function(s)

RNA polymerase II core promoter proximal region sequence-specific DNA binding
RNA polymerase II core promoter sequence-specific DNA binding
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
transcription factor activity, sequence-specific DNA binding
receptor signaling protein activity
protein binding
protein kinase binding
transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity
identical protein binding
protein homodimerization activity
metal ion binding
protein heterodimerization activity
co-SMAD binding
I-SMAD binding