SMAD5 SMAD family member 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SMAD5provided by HGNC
Official Full Name: SMAD family member 5provided by HGNC
Primary source: HGNC:HGNC:6771
See related: Ensembl:ENSG00000113658 MIM:603110; AllianceGenome:HGNC:6771
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DWFC; JV5-1; MADH5
Summary: The protein encoded by this gene is involved in the transforming growth factor beta signaling pathway that results in an inhibition of the proliferation of hematopoietic progenitor cells. The encoded protein is activated by bone morphogenetic proteins type 1 receptor kinase, and may be involved in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
Expression: Ubiquitous expression in endometrium (RPKM 14.1), ovary (RPKM 13.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q31.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (136132845..136182733)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (136655373..136705263)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (135468534..135518421)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LncRNA MALAT1 promotes osteogenic differentiation through the miR-93-5p/SMAD5 axis.
Title: LncRNA MALAT1 promotes osteogenic differentiation through the miR-93-5p/SMAD5 axis.
Long noncoding RNA BMPR1B-AS1 stability regulated by IGF2BP2 affects the decidualization in endometriosis patients through the SMAD1/5/9 pathway.
Title: Long noncoding RNA BMPR1B-AS1 stability regulated by IGF2BP2 affects the decidualization in endometriosis patients through the SMAD1/5/9 pathway.
Lrg1 silencing attenuates ischemia-reperfusion renal injury by regulating autophagy and apoptosis through the TGFbeta1- Smad1/5 signaling pathway.
Title: Lrg1 silencing attenuates ischemia-reperfusion renal injury by regulating autophagy and apoptosis through the TGFβ1- Smad1/5 signaling pathway.
Circ_0001825 promotes osteogenic differentiation in human-derived mesenchymal stem cells via miR-1270/SMAD5 axis.
Title: Circ_0001825 promotes osteogenic differentiation in human-derived mesenchymal stem cells via miR-1270/SMAD5 axis.
Long noncoding RNA TMEM147-AS1 serves as a microRNA-326 sponge to aggravate the malignancy of gastric cancer by upregulating SMAD5.
Title: Long noncoding RNA TMEM147-AS1 serves as a microRNA-326 sponge to aggravate the malignancy of gastric cancer by upregulating SMAD5.
Dysregulation of MicroRNA-152-3p is Associated with the Pathogenesis of Pulpitis by Modulating SMAD5.
Title: Dysregulation of MicroRNA-152-3p is Associated with the Pathogenesis of Pulpitis by Modulating SMAD5.
Role of lncRNA LINC01194 in hepatocellular carcinoma via the miR-655-3p/SMAD family member 5 axis.
Title: Role of lncRNA LINC01194 in hepatocellular carcinoma via the miR-655-3p/SMAD family member 5 axis.
Long non-coding RNA H19 aggravates keloid progression by upregulating SMAD family member 5 expression via miR-196b-5p.
Title: Long non-coding RNA H19 aggravates keloid progression by upregulating SMAD family member 5 expression via miR-196b-5p.
Silencing of long non-coding RNA HCP5 inhibits proliferation, invasion, migration, and promotes apoptosis via regulation of miR-299-3p/SMAD5 axis in gastric cancer cells.
Title: Silencing of long non-coding RNA HCP5 inhibits proliferation, invasion, migration, and promotes apoptosis via regulation of miR-299-3p/SMAD5 axis in gastric cancer cells.
Long non-coding RNA LINC01116 accelerates the progression of keloid formation by regulating miR-203/SMAD5 axis.
Title: Long non-coding RNA LINC01116 accelerates the progression of keloid formation by regulating miR-203/SMAD5 axis.

Submit: New GeneRIF Correction See all GeneRIFs (68)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat-treated pulmonary arterial smooth muscle cells modulate levels of phosphorylated SMAD1/5/8 proteins and SMAD1/5/8-SMAD4 protein complex, which are repressed by cocaine exposure	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MADH5_2355 (e-PCR)
- UniSTS:280833

RH65479 (e-PCR)
- UniSTS:52517

SGC34305 (e-PCR)
- UniSTS:6442

SMAD5 (e-PCR)
- UniSTS:504900

WIAF-2102 (e-PCR)
- UniSTS:39255

RH44658 (e-PCR)
- UniSTS:16739

RH80030 (e-PCR)
- UniSTS:87680

RH17543 (e-PCR)
- UniSTS:26323

Smad5 (e-PCR), detects polymorphism
- UniSTS:478946

bac51515S (e-PCR)
- UniSTS:181476

A009L33 (e-PCR)
- UniSTS:59367

G32658 (e-PCR)
- UniSTS:117240

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DEAD/H-box RNA helicase binding	IPI Inferred from Physical Interaction more info	PubMed
enables DNA-binding transcription factor activity	IC Inferred by Curator 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
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables I-SMAD binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in BMP signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in BMP signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in Mullerian duct regression	IEA Inferred from Electronic Annotation more info
involved_in SMAD protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in SMAD protein signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in SMAD protein signal transduction	NAS Non-traceable Author Statement more info	PubMed
involved_in anatomical structure morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in bone development	IEA Inferred from Electronic Annotation more info
involved_in cardiac conduction system development	NAS Non-traceable Author Statement more info	PubMed
involved_in cardiac muscle contraction	IEA Inferred from Electronic Annotation more info
involved_in cartilage development	IEA Inferred from Electronic Annotation more info
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to organic cyclic compound	IEA Inferred from Electronic Annotation more info
involved_in embryonic pattern specification	ISS Inferred from Sequence or Structural Similarity more info
involved_in erythrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in germ cell development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of Fas signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in osteoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in osteoblast fate commitment	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of osteoblast differentiation	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 positive regulation of transcription by RNA polymerase II	TAS Traceable Author Statement more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	NAS Non-traceable Author Statement more info	PubMed
involved_in transforming growth factor beta receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in transforming growth factor beta receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in ureteric bud development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of SMAD protein complex	NAS Non-traceable Author Statement more info	PubMed
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
part_of heteromeric SMAD protein complex	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed
located_in nucleus	TAS Traceable Author Statement more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: mothers against decapentaplegic homolog 5

Names: MAD, mothers against decapentaplegic homolog 5; SMA- and MAD-related protein 5; SMAD, mothers against DPP homolog 5; mothers against decapentaplegic, drosophila, homolog of, 5

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.

Genomic

NG_032037.1 RefSeqGene

Range

4999..54887

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001001419.3 → NP_001001419.1 mothers against decapentaplegic homolog 5

See identical proteins and their annotated locations for NP_001001419.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents the longest transcript. Variants 1-3 encode the same protein.

Source sequence(s)

AF071108, AK313397, BK001394, CR749366

Consensus CDS

CCDS75308.1

UniProtKB/Swiss-Prot

O14688, Q15798, Q99717, Q9UQA1

UniProtKB/TrEMBL

Q68DB7, Q6I9T1

Conserved Domains (2) summary

cd10490
Location:10 → 133

MH1_SMAD_1_5_9; N-terminal Mad Homology 1 (MH1) domain in SMAD1, SMAD5 and SMAD9 (also known as SMAD8)

cd10497
Location:265 → 465

MH2_SMAD_1_5_9; C-terminal Mad Homology 2 (MH2) domain in SMAD1, SMAD5 and SMAD9
NM_001001420.3 → NP_001001420.1 mothers against decapentaplegic homolog 5

See identical proteins and their annotated locations for NP_001001420.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 2. Variants 1-3 encode the same protein.

Source sequence(s)

AF071106, AK313397, BK001394, CR749366

Consensus CDS

CCDS75308.1

UniProtKB/Swiss-Prot

O14688, Q15798, Q99717, Q9UQA1

UniProtKB/TrEMBL

Q68DB7, Q6I9T1

Related

ENSP00000446474.2, ENST00000545620.5

Conserved Domains (2) summary

cd10490
Location:10 → 133

MH1_SMAD_1_5_9; N-terminal Mad Homology 1 (MH1) domain in SMAD1, SMAD5 and SMAD9 (also known as SMAD8)

cd10497
Location:265 → 465

MH2_SMAD_1_5_9; C-terminal Mad Homology 2 (MH2) domain in SMAD1, SMAD5 and SMAD9
NM_005903.7 → NP_005894.3 mothers against decapentaplegic homolog 5

See identical proteins and their annotated locations for NP_005894.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) differs in the 5' UTR, compared to variant 2. Variants 1-3 encode the same protein.

Source sequence(s)

AK313397, BK001394, CR749366

Consensus CDS

CCDS75308.1

UniProtKB/Swiss-Prot

O14688, Q15798, Q99717, Q9UQA1

UniProtKB/TrEMBL

Q68DB7, Q6I9T1

Related

ENSP00000441954.2, ENST00000545279.6

Conserved Domains (2) summary

cd10490
Location:10 → 133

MH1_SMAD_1_5_9; N-terminal Mad Homology 1 (MH1) domain in SMAD1, SMAD5 and SMAD9 (also known as SMAD8)

cd10497
Location:265 → 465

MH2_SMAD_1_5_9; C-terminal Mad Homology 2 (MH2) domain in SMAD1, SMAD5 and SMAD9

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

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

136132845..136182733

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024446047.2 → XP_024301815.1 mothers against decapentaplegic homolog 5 isoform X1

UniProtKB/Swiss-Prot

O14688, Q15798, Q99717, Q9UQA1

UniProtKB/TrEMBL

Q68DB7, Q6I9T1

Related

ENSP00000426696.2, ENST00000509297.6

Conserved Domains (2) summary

cd10490
Location:10 → 133

MH1_SMAD_1_5_9; N-terminal Mad Homology 1 (MH1) domain in SMAD1, SMAD5 and SMAD9 (also known as SMAD8)

cd10497
Location:265 → 465

MH2_SMAD_1_5_9; C-terminal Mad Homology 2 (MH2) domain in SMAD1, SMAD5 and SMAD9
XM_024446046.2 → XP_024301814.1 mothers against decapentaplegic homolog 5 isoform X1

UniProtKB/Swiss-Prot

O14688, Q15798, Q99717, Q9UQA1

UniProtKB/TrEMBL

Q68DB7, Q6I9T1

Conserved Domains (2) summary

cd10490
Location:10 → 133

MH1_SMAD_1_5_9; N-terminal Mad Homology 1 (MH1) domain in SMAD1, SMAD5 and SMAD9 (also known as SMAD8)

cd10497
Location:265 → 465

MH2_SMAD_1_5_9; C-terminal Mad Homology 2 (MH2) domain in SMAD1, SMAD5 and SMAD9
XM_017009470.3 → XP_016864959.1 mothers against decapentaplegic homolog 5 isoform X1

UniProtKB/Swiss-Prot

O14688, Q15798, Q99717, Q9UQA1

UniProtKB/TrEMBL

Q68DB7, Q6I9T1

Conserved Domains (2) summary

cd10490
Location:10 → 133

MH1_SMAD_1_5_9; N-terminal Mad Homology 1 (MH1) domain in SMAD1, SMAD5 and SMAD9 (also known as SMAD8)

cd10497
Location:265 → 465

MH2_SMAD_1_5_9; C-terminal Mad Homology 2 (MH2) domain in SMAD1, SMAD5 and SMAD9

Alternate T2T-CHM13v2.0

Genomic

NC_060929.1 Alternate T2T-CHM13v2.0

Range

136655373..136705263

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054352585.1 → XP_054208560.1 mothers against decapentaplegic homolog 5 isoform X1

UniProtKB/Swiss-Prot

O14688, Q15798, Q99717, Q9UQA1

UniProtKB/TrEMBL

Q68DB7
XM_054352586.1 → XP_054208561.1 mothers against decapentaplegic homolog 5 isoform X1

UniProtKB/Swiss-Prot

O14688, Q15798, Q99717, Q9UQA1

UniProtKB/TrEMBL

Q68DB7
XM_054352587.1 → XP_054208562.1 mothers against decapentaplegic homolog 5 isoform X1

UniProtKB/Swiss-Prot

O14688, Q15798, Q99717, Q9UQA1

UniProtKB/TrEMBL

Q68DB7