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

Gene ID: 4090, updated on 19-Jul-2021

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
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
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Genomic context

See SMAD5 in Genome Data Viewer
Location:
5q31.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (136132845..136182733)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (135468534..135518421)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379189 Neighboring gene transforming growth factor beta induced Neighboring gene vault RNA 2-1 Neighboring gene SMAD5 antisense RNA 1 Neighboring gene small integral membrane protein 32 Neighboring gene TRPC7 antisense RNA 1 Neighboring gene transient receptor potential cation channel subfamily C member 7

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?

HIV-1 interactions

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

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp781C1895, DKFZp781O1323

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in BMP signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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
 
involved_in negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in osteoblast fate commitment IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of osteoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus TAS
Traceable Author Statement
more info
PubMed 
involved_in positive regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
involved_in protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
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

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

  1. NG_032037.1 RefSeqGene

    Range
    4999..54887
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001001419.3NP_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
    Q99717
    UniProtKB/TrEMBL
    Q68DB7
    Conserved Domains (2) summary
    cd10490
    Location:10133
    MH1_SMAD_1_5_9; N-terminal Mad Homology 1 (MH1) domain in SMAD1, SMAD5 and SMAD9 (also known as SMAD8)
    cd10497
    Location:265465
    MH2_SMAD_1_5_9; C-terminal Mad Homology 2 (MH2) domain in SMAD1, SMAD5 and SMAD9
  2. NM_001001420.3NP_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
    Q99717
    UniProtKB/TrEMBL
    Q68DB7
    Related
    ENSP00000446474.2, ENST00000545620.5
    Conserved Domains (2) summary
    cd10490
    Location:10133
    MH1_SMAD_1_5_9; N-terminal Mad Homology 1 (MH1) domain in SMAD1, SMAD5 and SMAD9 (also known as SMAD8)
    cd10497
    Location:265465
    MH2_SMAD_1_5_9; C-terminal Mad Homology 2 (MH2) domain in SMAD1, SMAD5 and SMAD9
  3. NM_005903.7NP_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
    Q99717
    UniProtKB/TrEMBL
    Q68DB7
    Related
    ENSP00000441954.2, ENST00000545279.6
    Conserved Domains (2) summary
    cd10490
    Location:10133
    MH1_SMAD_1_5_9; N-terminal Mad Homology 1 (MH1) domain in SMAD1, SMAD5 and SMAD9 (also known as SMAD8)
    cd10497
    Location:265465
    MH2_SMAD_1_5_9; C-terminal Mad Homology 2 (MH2) domain in SMAD1, SMAD5 and SMAD9

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    136132845..136182733
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Related
    ENSP00000426696.2, ENST00000509297.6
    Conserved Domains (2) summary
    cd10490
    Location:10133
    MH1_SMAD_1_5_9; N-terminal Mad Homology 1 (MH1) domain in SMAD1, SMAD5 and SMAD9 (also known as SMAD8)
    cd10497
    Location:265465
    MH2_SMAD_1_5_9; C-terminal Mad Homology 2 (MH2) domain in SMAD1, SMAD5 and SMAD9
  2. XM_017009470.2XP_016864959.1  mothers against decapentaplegic homolog 5 isoform X1

    UniProtKB/Swiss-Prot
    Q99717
    UniProtKB/TrEMBL
    Q68DB7
    Conserved Domains (2) summary
    cd10490
    Location:10133
    MH1_SMAD_1_5_9; N-terminal Mad Homology 1 (MH1) domain in SMAD1, SMAD5 and SMAD9 (also known as SMAD8)
    cd10497
    Location:265465
    MH2_SMAD_1_5_9; C-terminal Mad Homology 2 (MH2) domain in SMAD1, SMAD5 and SMAD9
  3. XM_024446046.1XP_024301814.1  mothers against decapentaplegic homolog 5 isoform X1

    Conserved Domains (2) summary
    cd10490
    Location:10133
    MH1_SMAD_1_5_9; N-terminal Mad Homology 1 (MH1) domain in SMAD1, SMAD5 and SMAD9 (also known as SMAD8)
    cd10497
    Location:265465
    MH2_SMAD_1_5_9; C-terminal Mad Homology 2 (MH2) domain in SMAD1, SMAD5 and SMAD9
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