Shroom4 shroom family member 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Shroom4provided by MGI
Official Full Name: shroom family member 4provided by MGI
Primary source: MGI:MGI:2685570
See related: Ensembl:ENSMUSG00000068270 AllianceGenome:MGI:2685570
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gm724; Shrm4; D430043L16Rik
Summary: Enables actin filament binding activity and myosin II binding activity. Acts upstream of or within actin filament organization. Located in several cellular components, including apical plasma membrane; basal plasma membrane; and stress fiber. Colocalizes with cortical actin cytoskeleton. Is expressed in several structures, including brain; genitourinary system; heart; liver; and lung. Human ortholog(s) of this gene implicated in Stocco Dos Santos type X-linked intellectual disability. Orthologous to human SHROOM4 (shroom family member 4). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in kidney adult (RPKM 3.7), lung adult (RPKM 2.9) and 16 other tissues See more
Orthologs: human all
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Genomic context

Location:: X A1.1; X 2.85 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (6312012..6549508)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (6399949..6637454)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems.
Title: X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems.
the overexpression of Shrm4 or activation of GABAB1 upregulated the levels of Shrm4, GABAB1, Bcl-2, MAP-2 and SOCS2, while downregulated Bax and cleaved Caspase-3 in NSCs. Overall, overexpression of Shrm4 activated GABAB1 to stimulate the proliferation and differentiation of NSCs.
Title: Overexpression of Shrm4 promotes proliferation and differentiation of neural stem cells through activation of GABA signaling pathway.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2)
Endonuclease-mediated (2)

General gene information

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Markers

DXMit203 (e-PCR), detects polymorphism
- UniSTS:132091

DXMit204 (e-PCR), detects polymorphism
- UniSTS:132092

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin binding	IEA Inferred from Electronic Annotation more info
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	IDA Inferred from Direct Assay more info	PubMed
enables myosin II binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within actin filament organization	IDA Inferred from Direct Assay more info	PubMed
involved_in brain development	ISO Inferred from Sequence Orthology more info
NOT involved_in cell morphogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in cognition	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in actin cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in actin filament	ISO Inferred from Sequence Orthology more info
is_active_in adherens junction	IBA Inferred from Biological aspect of Ancestor more info
is_active_in apical junction complex	IBA Inferred from Biological aspect of Ancestor more info
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basal plasma membrane	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with cortical actin cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic side of plasma membrane	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic side of plasma membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in focal adhesion	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in stress fiber	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein Shroom4

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_001040459.2 → NP_001035549.1 protein Shroom4 isoform 1

See identical proteins and their annotated locations for NP_001035549.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AL671501, BC151022

Consensus CDS

CCDS29959.1

UniProtKB/Swiss-Prot

A2ADV9, B2RX74, Q1W617, Q69ZN9

Related

ENSMUSP00000100070.4, ENSMUST00000103005.10

Conserved Domains (3) summary

cd00992
Location:13 → 89

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam08687
Location:1229 → 1467

ASD2; Apx/Shroom domain ASD2

pfam15265
Location:229 → 375

FAM196; FAM196 family
NM_001313764.1 → NP_001300693.1 protein Shroom4 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate exon in place of the first exon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AL671501, BC151022, CJ101431

UniProtKB/Swiss-Prot

Q1W617

Conserved Domains (2) summary

smart00228
Location:1 → 41

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

pfam08687
Location:1168 → 1416

ASD2; Apx/Shroom domain ASD2
NM_001313765.1 → NP_001300694.1 protein Shroom4 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate exon in place of the first two exons compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AK052531, AK173129, AL671501

Consensus CDS

CCDS85744.1

UniProtKB/Swiss-Prot

Q1W617

Related

ENSMUSP00000086949.3, ENSMUST00000089520.3

Conserved Domains (1) summary

pfam08687
Location:1113 → 1351

ASD2; Apx/Shroom domain ASD2

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000086.8 Reference GRCm39 C57BL/6J

Range

6312012..6549508

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006527549.5 → XP_006527612.1 protein Shroom4 isoform X1

Conserved Domains (2) summary

smart00228
Location:1 → 41

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

pfam08687
Location:1168 → 1416

ASD2; Apx/Shroom domain ASD2
XM_036161879.1 → XP_036017772.1 protein Shroom4 isoform X2

Conserved Domains (1) summary

smart00228
Location:1 → 41

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2