Rhpn1 rhophilin, Rho GTPase binding protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rhpn1provided by MGI
Official Full Name: rhophilin, Rho GTPase binding protein 1provided by MGI
Primary source: MGI:MGI:1098783
See related: Ensembl:ENSMUSG00000022580 AllianceGenome:MGI:1098783
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: Grbp; Rhophilin; mKIAA1929
Summary: Acts upstream of or within several processes, including focal adhesion assembly; glomerular filtration; and negative regulation of stress fiber assembly. Located in plasma membrane. Is expressed in several structures, including genitourinary system; hindlimb digit mesenchyme; musculoskeletal system; nervous system; and retina nuclear layer. Orthologous to human RHPN1 (rhophilin Rho GTPase binding protein 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in genital fat pad adult (RPKM 16.0), kidney adult (RPKM 15.8) and 13 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 D3; 15 34.76 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (75576097..75586268)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (75704246..75714419)

Chromosome 15 - NC_000081.7 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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

essential for the integrity of the glomerular filtration barrier and a key determinant of podocyte cytoskeleton architecture
Title: Rhophilin-1 is a key regulator of the podocyte cytoskeleton and is essential for glomerular filtration.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within focal adhesion assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glomerular filtration	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within glomerular filtration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within kidney development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within kidney development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of stress fiber assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of stress fiber assembly	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of stress fiber assembly	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within plasma membrane bounded cell projection morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within renal albumin absorption	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell periphery	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: rhophilin-1

Names: GTP-Rho-binding protein 1; GTP-rho binding protein 1

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_001163465.2 → NP_001156937.1 rhophilin-1 isoform 1

Status: VALIDATED

Source sequence(s)

AC116393

Consensus CDS

CCDS49641.1

UniProtKB/TrEMBL

E9Q7Q7, Q5DTT9

Related

ENSMUSP00000113042.2, ENSMUST00000121137.9

Conserved Domains (3) summary

cd09248
Location:116 → 498

BRO1_Rhophilin_1; Protein-interacting Bro1-like domain of RhoA-binding protein Rhophilin-1

cd11633
Location:28 → 112

HR1_Rhophilin-1; Protein kinase C-related kinase homology region 1 (HR1) Rho-binding domain of Rhophilin-1

cd00992
Location:519 → 593

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) ...
NM_001411251.1 → NP_001398180.1 rhophilin-1 isoform 3

Status: VALIDATED

Source sequence(s)

AC116393

UniProtKB/TrEMBL

Q5DTT9
NM_008164.3 → NP_032190.2 rhophilin-1 isoform 2

See identical proteins and their annotated locations for NP_032190.2

Status: VALIDATED

Source sequence(s)

AC116393

Consensus CDS

CCDS27548.1

UniProtKB/Swiss-Prot

E9QMX9, Q61085

UniProtKB/TrEMBL

Q5DTT9

Related

ENSMUSP00000023244.6, ENSMUST00000023244.6

Conserved Domains (3) summary

cd09248
Location:116 → 498

BRO1_Rhophilin_1; Protein-interacting Bro1-like domain of RhoA-binding protein Rhophilin-1

cd11633
Location:28 → 112

HR1_Rhophilin-1; Protein kinase C-related kinase homology region 1 (HR1) Rho-binding domain of Rhophilin-1

cd00992
Location:501 → 575

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) ...

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_000081.7 Reference GRCm39 C57BL/6J

Range

75576097..75586268

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017316433.3 → XP_017171922.1 rhophilin-1 isoform X2

Conserved Domains (2) summary

cd00992
Location:290 → 364

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) ...

cl14649
Location:3 → 269

BRO1_Alix_like; Protein-interacting Bro1-like domain of mammalian Alix and related domains
XM_017316434.2 → XP_017171923.1 rhophilin-1 isoform X3

Conserved Domains (2) summary

cd00992
Location:289 → 363

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) ...

cl14649
Location:3 → 268

BRO1_Alix_like; Protein-interacting Bro1-like domain of mammalian Alix and related domains