smad4a SMAD family member 4a [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: smad4aprovided by ZNC
Official Full Name: SMAD family member 4aprovided by ZNC
Primary source: ZFIN:ZDB-GENE-990603-8
See related: Ensembl:ENSDARG00000075226 AllianceGenome:ZFIN:ZDB-GENE-990603-8
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: madh4; smad4; zmp:0000000768
Summary: Enables sequence-specific DNA binding activity. Contributes to transcription cis-regulatory region binding activity. Acts upstream of or within convergent extension; determination of ventral identity; and striated muscle tissue development. Located in nucleus. Part of SMAD protein complex. Is expressed in several structures, including digestive system; head; heart; immature eye; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in several diseases, including female reproductive organ cancer (multiple); hereditary hemorrhagic telangiectasia; juvenile polyposis syndrome; juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome; and seminoma. Orthologous to human SMAD4 (SMAD family member 4). [provided by Alliance of Genome Resources, Apr 2022]
Annotation information: Annotation category: suggests misassembly
Orthologs: all
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Genomic context

Location:: chromosome: 10

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	10	NC_007121.7 (573667..590083)
105	previous assembly	GRCz10 (GCF_000002035.5)	10	NC_007121.6 (572970..731320)

Chromosome 10 - NC_007121.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

a notable increase in apoptosis was apparent in the smad4 knockdown embryos, while no obvious reduction in cell proliferation was observed. Collectively, these data suggest that smad4 plays an important role in heart and skeletal muscle development.
Title: Smad4 is required for the development of cardiac and skeletal muscle in zebrafish.
Dkk3r regulates p38a phosphorylation to maintain Smad4 stability, in turn enabling the Smad2.Smad3a.Smad4 complex to form and activate the myf5 promoter.
Title: dickkopf-3-related gene regulates the expression of zebrafish myf5 gene through phosphorylated p38a-dependent Smad4 activity.
data presented show that Zili suppresses TGF-beta signaling by physically associating with Smad4 and preventing the formation of Smad2/3/4 and Smad1/5/9/4 complexes
Title: Zili inhibits transforming growth factor-beta signaling by interacting with Smad4.

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General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor 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 metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in SMAD protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in anatomical structure morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cardiac muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within convergent extension	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within convergent extension	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within determination of ventral identity	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within determination of ventral identity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of BMP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of nodal signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within skeletal muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transforming growth factor beta receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of SMAD protein complex	IPI Inferred from Physical Interaction more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
part_of heteromeric SMAD protein complex	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info
part_of transcription regulator complex	IEA Inferred from Electronic Annotation more info
part_of transcription regulator complex	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: mothers against decapentaplegic homolog 4; mothers against decapentaplegic homolog 4a

Names: MAD (mothers against decapentaplegic, Drosophila) homolog 4; MAD homolog 4; SMA- and MAD-related protein 4; SMAD family member 4

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)

NM_001122700.2 → NP_001116172.2 mothers against decapentaplegic homolog 4a

Status: VALIDATED

Source sequence(s)

CABZ01068933, LO018557

Related

ENSDARP00000097763.3, ENSDART00000110384.4

RefSeqs of Annotated Genomes: Danio rerio Annotation Release 106 details...

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

Reference GRCz11 Primary Assembly

Genomic

NC_007121.7 Reference GRCz11 Primary Assembly

Range

573667..590083

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017357976.2 → XP_017213465.1 mothers against decapentaplegic homolog 4 isoform X1

UniProtKB/TrEMBL

A0A8M6Z2Y5, B1PS58
XM_017357977.2 → XP_017213466.1 mothers against decapentaplegic homolog 4 isoform X2

UniProtKB/TrEMBL

A0A8M6Z8S9, B1PS58
XM_017357978.2 → XP_017213467.1 mothers against decapentaplegic homolog 4 isoform X3

UniProtKB/TrEMBL

A0A8M6Z0Q2, B1PS58, B1PS59, F1REK8

Related

ENSDARP00000112470.2, ENSDART00000129856.3

Conserved Domains (2) summary

cd10492
Location:11 → 135

MH1_SMAD_4; N-terminal Mad Homology 1 (MH1) domain in SMAD4

cd10498
Location:273 → 494

MH2_SMAD_4; C-terminal Mad Homology 2 (MH2) domain in SMAD4

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001114912.1: Suppressed sequence

Description

NM_001114912.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.