Aliases for RHPN1 Gene

Aliases for RHPN1 Gene

  • Rhophilin Rho GTPase Binding Protein 1 2 3 5
  • GTP-Rho-Binding Protein 1 3 4
  • Rhophilin-1 3 4
  • KIAA1929 2 4
  • ODF5 2 3
  • RHPN 2 3
  • Outer Dense Fiber Of Sperm Tails 5 3
  • RHOPHILIN 3
  • RHPN1 5

External Ids for RHPN1 Gene

Previous GeneCards Identifiers for RHPN1 Gene

  • GC08P144654
  • GC08P144226
  • GC08P144556
  • GC08P144522
  • GC08P139704
  • GC08P144451

Summaries for RHPN1 Gene

GeneCards Summary for RHPN1 Gene

RHPN1 (Rhophilin Rho GTPase Binding Protein 1) is a Protein Coding gene. Diseases associated with RHPN1 include Lymphedema-Distichiasis Syndrome. Among its related pathways are Signaling by GPCR and RHO GTPases Activate Rhotekin and Rhophilins. An important paralog of this gene is RHPN2.

UniProtKB/Swiss-Prot Summary for RHPN1 Gene

  • Has no enzymatic activity. May serve as a target for Rho, and interact with some cytoskeletal component upon Rho binding or relay a Rho signal to other molecules.

Gene Wiki entry for RHPN1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RHPN1 Gene

Genomics for RHPN1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RHPN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J143367 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 269.6 +0.0 13 3.3 SP1 ZNF600 ZMYM3 ZNF223 POLR2A ZIC2 ZBTB10 NONO CTCF CEBPB RHPN1 RHPN1-AS1 TOP1MT ZNF623 ZNF707 SLC52A2 GPAA1 JRK ZNF696 FBXL6
GH08J143366 Enhancer 0.2 ENCODE 250.7 -1.9 -1941 0.2 RHPN1 RHPN1-AS1 piR-43499 TOP1MT
GH08J143333 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 16.9 -34.1 -34093 2.2 NCOR1 MYC ZNF600 IKZF1 ZNF580 ZMYM3 CEBPA MXD4 REST ELK1 TOP1MT lnc-MAFA-5 RHPN1 ZNF623 JRK TSNARE1 SLC52A2 ENSG00000253931 MAFA-AS1 LY6H
GH08J143275 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.4 -90.0 -89957 6.9 BCLAF1 SP1 NCOR1 ZNF207 MYC IKZF1 SIX5 SSRP1 ZNF580 ZNF592 MINCR GLI4 HSALNG0069265 ZNF623 GPAA1 PARP10 ENSG00000255050 ZNF707 EEF1D ZFP41
GH08J143354 Promoter/Enhancer 1.1 Ensembl ENCODE 17 -13.2 -13226 2 SAP130 ETV4 RARA GABPB1 TEAD3 MYNN SPI1 POLR2A HMG20B ZNF792 TOP1MT RHPN1 ENSG00000253931 MAFA-AS1 ZNF696 RF00017-6797 lnc-TOP1MT-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RHPN1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RHPN1

Top Transcription factor binding sites by QIAGEN in the RHPN1 gene promoter:
  • C/EBPbeta
  • CBF(2)
  • IRF-1
  • IRF-2
  • Lmo2
  • NF-Y
  • NRSF form 1
  • NRSF form 2
  • Pax-2
  • Pax-2a

Genomic Locations for RHPN1 Gene

Latest Assembly
chr8:143,368,827-143,384,221
(GRCh38/hg38)
Size:
15,395 bases
Orientation:
Plus strand

Previous Assembly
chr8:144,451,046-144,466,391
(GRCh37/hg19 by Entrez Gene)
Size:
15,346 bases
Orientation:
Plus strand

chr8:144,451,057-144,466,390
(GRCh37/hg19 by Ensembl)
Size:
15,334 bases
Orientation:
Plus strand

Genomic View for RHPN1 Gene

Genes around RHPN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RHPN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RHPN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RHPN1 Gene

Proteins for RHPN1 Gene

  • Protein details for RHPN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TCX5-RHPN1_HUMAN
    Recommended name:
    Rhophilin-1
    Protein Accession:
    Q8TCX5
    Secondary Accessions:
    • Q8TAV1
    • Q96PV9

    Protein attributes for RHPN1 Gene

    Size:
    670 amino acids
    Molecular mass:
    73590 Da
    Quaternary structure:
    • Binds specifically to GTP-Rho. Interacts with ROPN1.
    SequenceCaution:
    • Sequence=AAL89809.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=BAB67822.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAB67822.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

neXtProt entry for RHPN1 Gene

Post-translational modifications for RHPN1 Gene

  • Ubiquitination at Lys213
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Boster Bio Antibodies for RHPN1

No data available for DME Specific Peptides for RHPN1 Gene

Domains & Families for RHPN1 Gene

Gene Families for RHPN1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for RHPN1 Gene

InterPro:
Blocks:
  • PDZ/DHR/GLGF domain
  • Protein kinase PKN/PRK1, effector
  • BRO1-like domain

Suggested Antigen Peptide Sequences for RHPN1 Gene

GenScript: Design optimal peptide antigens:
  • GTP-Rho-binding protein 1 (RHPN1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TCX5

UniProtKB/Swiss-Prot:

RHPN1_HUMAN :
  • The PDZ domain mediates interaction with ROPN1.
  • Belongs to the RHPN family.
Domain:
  • The PDZ domain mediates interaction with ROPN1.
Family:
  • Belongs to the RHPN family.
genes like me logo Genes that share domains with RHPN1: view

Function for RHPN1 Gene

Molecular function for RHPN1 Gene

UniProtKB/Swiss-Prot Function:
Has no enzymatic activity. May serve as a target for Rho, and interact with some cytoskeletal component upon Rho binding or relay a Rho signal to other molecules.

Phenotypes From GWAS Catalog for RHPN1 Gene

Gene Ontology (GO) - Molecular Function for RHPN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with RHPN1: view
genes like me logo Genes that share phenotypes with RHPN1: view

Animal Models for RHPN1 Gene

MGI Knock Outs for RHPN1:
  • Rhpn1 Rhpn1<tm1b(KOMP)Wtsi>
  • Rhpn1 Rhpn1<tm1Ktry>

miRNA for RHPN1 Gene

miRTarBase miRNAs that target RHPN1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RHPN1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RHPN1 Gene

Localization for RHPN1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RHPN1 gene
Compartment Confidence
cytosol 4
nucleus 3
cytoskeleton 2
plasma membrane 1
extracellular 1
mitochondrion 1
endosome 1
peroxisome 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RHPN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with RHPN1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RHPN1 Gene

Pathways & Interactions for RHPN1 Gene

genes like me logo Genes that share pathways with RHPN1: view

Pathways by source for RHPN1 Gene

1 GeneGo (Thomson Reuters) pathway for RHPN1 Gene
  • G-protein signaling_RhoA regulation pathway
1 Qiagen pathway for RHPN1 Gene
  • RhoA Pathway

Gene Ontology (GO) - Biological Process for RHPN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
genes like me logo Genes that share ontologies with RHPN1: view

No data available for SIGNOR curated interactions for RHPN1 Gene

Drugs & Compounds for RHPN1 Gene

(1) Drugs for RHPN1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with RHPN1: view

Transcripts for RHPN1 Gene

mRNA/cDNA for RHPN1 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RHPN1

Alternative Splicing Database (ASD) splice patterns (SP) for RHPN1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13a · 13b · 13c ^
SP1: - - -
SP2: - - -
SP3: - - - - -
SP4: -
SP5: - - -
SP6:
SP7: - - -
SP8: -
SP9:
SP10: -
SP11:
SP12:

ExUns: 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18a · 18b
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: -
SP10:
SP11:
SP12:

Relevant External Links for RHPN1 Gene

GeneLoc Exon Structure for
RHPN1

Expression for RHPN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RHPN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RHPN1 Gene

This gene is overexpressed in Pituitary (x5.1).

Protein differential expression in normal tissues from HIPED for RHPN1 Gene

This gene is overexpressed in Fetal Liver (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RHPN1 Gene



Protein tissue co-expression partners for RHPN1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RHPN1

SOURCE GeneReport for Unigene cluster for RHPN1 Gene:

Hs.521912

Evidence on tissue expression from TISSUES for RHPN1 Gene

  • Nervous system(4.3)
  • Blood(4.1)
genes like me logo Genes that share expression patterns with RHPN1: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RHPN1 Gene

Orthologs for RHPN1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RHPN1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RHPN1 29 30
  • 98.96 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RHPN1 29 30
  • 81.42 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RHPN1 29 30
  • 81.22 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rhpn1 29 16 30
  • 79.31 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rhpn1 29
  • 78.28 (n)
Oppossum
(Monodelphis domestica)
Mammalia RHPN1 30
  • 59 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RHPN1 30
  • 59 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RHPN1 29 30
  • 67.51 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RHPN1 30
  • 58 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rhpn1 29
  • 64.25 (n)
Str.15860 29
Zebrafish
(Danio rerio)
Actinopterygii rhpn1 29 30
  • 61.12 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Rhp 30
  • 33 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RIM20 30
  • 13 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 40 (a)
OneToMany
Species where no ortholog for RHPN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for RHPN1 Gene

ENSEMBL:
Gene Tree for RHPN1 (if available)
TreeFam:
Gene Tree for RHPN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RHPN1: view image
Alliance of Genome Resources:
Additional Orthologs for RHPN1

Paralogs for RHPN1 Gene

Paralogs for RHPN1 Gene

(2) SIMAP similar genes for RHPN1 Gene using alignment to 1 proteins:

  • RHPN1_HUMAN
genes like me logo Genes that share paralogs with RHPN1: view

Variants for RHPN1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RHPN1 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs144295575 Benign: not provided 143,375,651(+) C/T
NM_052924.3(RHPN1):c.159C>T (p.Gly53=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RHPN1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for RHPN1 Gene

Variant ID Type Subtype PubMed ID
esv2738005 CNV deletion 23290073
esv28774 CNV loss 19812545
esv2927 CNV loss 18987735
esv3352280 CNV duplication 20981092
esv3619106 CNV gain 21293372
esv3619107 CNV gain 21293372
nsv1075179 CNV deletion 25765185
nsv1112970 CNV deletion 24896259
nsv1126866 CNV deletion 24896259
nsv397650 CNV insertion 16902084
nsv470247 CNV loss 18288195
nsv612765 CNV loss 21841781
nsv612766 CNV gain 21841781
nsv612767 CNV gain+loss 21841781
nsv950012 CNV deletion 24416366

Variation tolerance for RHPN1 Gene

Residual Variation Intolerance Score: 73.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.67; 45.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RHPN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RHPN1
Leiden Open Variation Database (LOVD)
RHPN1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RHPN1 Gene

Disorders for RHPN1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RHPN1 Gene - From: COP

Disorder Aliases PubMed IDs
lymphedema-distichiasis syndrome
  • lphdst
- elite association - COSMIC cancer census association via MalaCards
Search RHPN1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RHPN1

genes like me logo Genes that share disorders with RHPN1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RHPN1 Gene

Publications for RHPN1 Gene

  1. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PMID: 11572484) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4
  2. Rhophilin-1 is a key regulator of the podocyte cytoskeleton and is essential for glomerular filtration. (PMID: 25071083) Lal MA … Tryggvason K (Journal of the American Society of Nephrology : JASN 2015) 2 3
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. The RhoA-binding protein, rhophilin-2, regulates actin cytoskeleton organization. (PMID: 12221077) Peck JW … Burbelo PD (The Journal of biological chemistry 2002) 3 22
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for RHPN1 Gene

Sources for RHPN1 Gene