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SMAD1

GENERAL INFORMATION

Gene name

 SMAD1

Gene description

 SMAD family member 1

Protein class

 Cancer-related genes
Disease related genes
Predicted intracellular proteins
Transcription factors

Predicted localization

 Intracellular

Number of transcripts

 9
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic and nuclear expression in most tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
CAB005389
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Smooth muscle

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 SMAD1 (HGNC Symbol)

Synonyms

 JV4-1, MADH1, MADR1

Description

 SMAD family member 1 (HGNC Symbol)

Entrez gene summary

 The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signals of the bone morphogenetic proteins (BMPs), which are involved in a range of biological activities including cell growth, apoptosis, morphogenesis, development and immune responses. In response to BMP ligands, this protein can be phosphorylated and activated by the BMP receptor kinase. The phosphorylated form of this protein forms a complex with SMAD4, which is important for its function in the transcription regulation. This protein is a target for SMAD-specific E3 ubiquitin ligases, such as SMURF1 and SMURF2, and undergoes ubiquitination and proteasome-mediated degradation. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]

Chromosome

 4

Cytoband

 q31.21

Chromosome location (bp)

 145481194 - 145558079

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000170365 (version 83.38)

Entrez gene

 4086

UniProt

 Q15797 (UniProt - Evidence at protein level)

neXtProt

 NX_Q15797

Antibodypedia

 SMAD1 antibodies

PROTEIN BROWSER
SMAD1-001
SMAD1-002
SMAD1-003
SMAD1-004
SMAD1-005
SMAD1-006
SMAD1-007
SMAD1-012
SMAD1-015

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
SMAD1-001
ENSP00000305769
ENST00000302085
Q15797 [Direct mapping]
Mothers against decapentaplegic homolog 1
Show all
Predicted intracellular proteins
Transcription factors
   beta-Hairpin exposed by an alpha/beta-scaffold
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding]
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005057 [receptor signaling protein activity]
GO:0005515 [protein binding]
GO:0005622 [intracellular]
GO:0005634 [nucleus]
GO:0005637 [nuclear inner membrane]
GO:0005654 [nucleoplasm]
GO:0005667 [transcription factor complex]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0007165 [signal transduction]
GO:0007179 [transforming growth factor beta receptor signaling pathway]
GO:0007183 [SMAD protein complex assembly]
GO:0009880 [embryonic pattern specification]
GO:0010628 [positive regulation of gene expression]
GO:0016021 [integral component of membrane]
GO:0019901 [protein kinase binding]
GO:0030509 [BMP signaling pathway]
GO:0030618 [transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity]
GO:0031053 [primary miRNA processing]
GO:0042802 [identical protein binding]
GO:0043234 [protein complex]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046872 [metal ion binding]
GO:0060395 [SMAD protein signal transduction]
GO:0070410 [co-SMAD binding]
GO:0070411 [I-SMAD binding]
GO:0071141 [SMAD protein complex]
GO:0071773 [cellular response to BMP stimulus]
GO:1901522 [positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus]
Show all
 465 aa
52.3 kDa 		No 0
SMAD1-002
ENSP00000426568
ENST00000515385
Q15797 [Direct mapping]
Mothers against decapentaplegic homolog 1
Show all
Predicted intracellular proteins
Transcription factors
   beta-Hairpin exposed by an alpha/beta-scaffold
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000165 [MAPK cascade]
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding]
GO:0000979 [RNA polymerase II core promoter sequence-specific DNA binding]
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001657 [ureteric bud development]
GO:0001710 [mesodermal cell fate commitment]
GO:0002051 [osteoblast fate commitment]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005057 [receptor signaling protein activity]
GO:0005515 [protein binding]
GO:0005622 [intracellular]
GO:0005634 [nucleus]
GO:0005637 [nuclear inner membrane]
GO:0005654 [nucleoplasm]
GO:0005667 [transcription factor complex]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0006468 [protein phosphorylation]
GO:0006954 [inflammatory response]
GO:0007165 [signal transduction]
GO:0007179 [transforming growth factor beta receptor signaling pathway]
GO:0007183 [SMAD protein complex assembly]
GO:0007276 [gamete generation]
GO:0008285 [negative regulation of cell proliferation]
GO:0009880 [embryonic pattern specification]
GO:0010628 [positive regulation of gene expression]
GO:0016021 [integral component of membrane]
GO:0019901 [protein kinase binding]
GO:0030509 [BMP signaling pathway]
GO:0030618 [transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity]
GO:0030901 [midbrain development]
GO:0030902 [hindbrain development]
GO:0031053 [primary miRNA processing]
GO:0042592 [homeostatic process]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
GO:0043234 [protein complex]
GO:0045669 [positive regulation of osteoblast differentiation]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046872 [metal ion binding]
GO:0046982 [protein heterodimerization activity]
GO:0051216 [cartilage development]
GO:0060038 [cardiac muscle cell proliferation]
GO:0060348 [bone development]
GO:0060395 [SMAD protein signal transduction]
GO:0061036 [positive regulation of cartilage development]
GO:0070410 [co-SMAD binding]
GO:0070411 [I-SMAD binding]
GO:0071141 [SMAD protein complex]
GO:0071407 [cellular response to organic cyclic compound]
GO:0071773 [cellular response to BMP stimulus]
GO:1901522 [positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus]
Show all
 465 aa
52.3 kDa 		No 0
SMAD1-003
ENSP00000424959
ENST00000514778
D6REQ3 [Direct mapping]
Mothers against decapentaplegic homolog 1
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005622 [intracellular]
GO:0005634 [nucleus]
GO:0005667 [transcription factor complex]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0007179 [transforming growth factor beta receptor signaling pathway]
Show all
 106 aa
12.1 kDa 		No 0
SMAD1-004
ENSP00000424649
ENST00000507594
D6RAY1 [Direct mapping]
Mothers against decapentaplegic homolog 1
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005622 [intracellular]
GO:0005634 [nucleus]
GO:0005667 [transcription factor complex]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0007179 [transforming growth factor beta receptor signaling pathway]
Show all
 95 aa
10.8 kDa 		No 0
SMAD1-005
ENSP00000425270
ENST00000514831
D6RDN7 [Direct mapping]
Mothers against decapentaplegic homolog 1
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005622 [intracellular]
GO:0005634 [nucleus]
GO:0005667 [transcription factor complex]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0007179 [transforming growth factor beta receptor signaling pathway]
Show all
 112 aa
12.8 kDa 		No 0
SMAD1-006
ENSP00000422706
ENST00000503324
D6RBH9 [Direct mapping]
Mothers against decapentaplegic homolog 1
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005622 [intracellular]
GO:0005667 [transcription factor complex]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0007179 [transforming growth factor beta receptor signaling pathway]
Show all
 58 aa
6.5 kDa 		No 0
SMAD1-007
ENSP00000427002
ENST00000512019
D6RD62 [Direct mapping]
Mothers against decapentaplegic homolog 1
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005622 [intracellular]
GO:0005634 [nucleus]
GO:0005667 [transcription factor complex]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0007179 [transforming growth factor beta receptor signaling pathway]
Show all
 133 aa
15.3 kDa 		No 0
SMAD1-012
ENSP00000421601
ENST00000507367
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 10 aa
1.1 kDa 		No 0
SMAD1-015
ENSP00000377652
ENST00000394092
Q15797 [Direct mapping]
Mothers against decapentaplegic homolog 1
Show all
Predicted intracellular proteins
Transcription factors
   beta-Hairpin exposed by an alpha/beta-scaffold
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding]
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005057 [receptor signaling protein activity]
GO:0005515 [protein binding]
GO:0005622 [intracellular]
GO:0005634 [nucleus]
GO:0005637 [nuclear inner membrane]
GO:0005654 [nucleoplasm]
GO:0005667 [transcription factor complex]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0007165 [signal transduction]
GO:0007179 [transforming growth factor beta receptor signaling pathway]
GO:0007183 [SMAD protein complex assembly]
GO:0009880 [embryonic pattern specification]
GO:0010628 [positive regulation of gene expression]
GO:0016021 [integral component of membrane]
GO:0019901 [protein kinase binding]
GO:0030509 [BMP signaling pathway]
GO:0030618 [transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity]
GO:0031053 [primary miRNA processing]
GO:0042802 [identical protein binding]
GO:0043234 [protein complex]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046872 [metal ion binding]
GO:0060395 [SMAD protein signal transduction]
GO:0070410 [co-SMAD binding]
GO:0070411 [I-SMAD binding]
GO:0071141 [SMAD protein complex]
GO:0071773 [cellular response to BMP stimulus]
GO:1901522 [positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus]
Show all
 465 aa
52.3 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.