Aliases for RCSD1 Gene

Aliases for RCSD1 Gene

  • RCSD Domain Containing 1 2 3 5
  • RCSD Domain-Containing Protein 1 3 4
  • Protein Kinase Substrate CapZIP 3 4
  • CapZ-Interacting Protein 3 4
  • CAPZIP 3 4
  • MK2S4 2 3
  • Protein Kinase Substrate MK2S4 3
  • CapZ Interacting Protein 2
  • MGC21854 2
  • CapZIP 2
  • RCSD1 5

External Ids for RCSD1 Gene

Previous GeneCards Identifiers for RCSD1 Gene

  • GC01P164331
  • GC01P165865
  • GC01P138845

Summaries for RCSD1 Gene

CIViC Summary for RCSD1 Gene

GeneCards Summary for RCSD1 Gene

RCSD1 (RCSD Domain Containing 1) is a Protein Coding gene. Diseases associated with RCSD1 include Cardiomyopathy, Familial Hypertrophic, 6. Gene Ontology (GO) annotations related to this gene include actin filament binding. An important paralog of this gene is WASHC2A.

UniProtKB/Swiss-Prot Summary for RCSD1 Gene

  • Stress-induced phosphorylation of CAPZIP may regulate the ability of F-actin-capping protein to remodel actin filament assembly.

Additional gene information for RCSD1 Gene

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RCSD1 Gene

Genomics for RCSD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RCSD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RCSD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RCSD1

Top Transcription factor binding sites by QIAGEN in the RCSD1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • CREB
  • deltaCREB
  • GR
  • GR-alpha
  • HSF1 (long)
  • HSF1short
  • Pax-4a

Genomic Locations for RCSD1 Gene

Genomic Locations for RCSD1 Gene
chr1:167,630,093-167,708,696
(GRCh38/hg38)
Size:
78,604 bases
Orientation:
Plus strand
chr1:167,599,330-167,675,486
(GRCh37/hg19)
Size:
76,157 bases
Orientation:
Plus strand

Genomic View for RCSD1 Gene

Genes around RCSD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RCSD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RCSD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RCSD1 Gene

Proteins for RCSD1 Gene

  • Protein details for RCSD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6JBY9-CPZIP_HUMAN
    Recommended name:
    CapZ-interacting protein
    Protein Accession:
    Q6JBY9
    Secondary Accessions:
    • B1AK48
    • Q4G0E7
    • Q6IN93
    • Q8IZM2
    • Q96DX0
    • Q9NST4

    Protein attributes for RCSD1 Gene

    Size:
    416 amino acids
    Molecular mass:
    44504 Da
    Quaternary structure:
    • Interacts with CAPZA2 and CAPZB.
    SequenceCaution:
    • Sequence=CAB70910.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for RCSD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RCSD1 Gene

Post-translational modifications for RCSD1 Gene

  • Dephosphorylation results in its dissociation from CAPZA2.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RCSD1 Gene

No data available for DME Specific Peptides for RCSD1 Gene

Domains & Families for RCSD1 Gene

Gene Families for RCSD1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RCSD1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RCSD1 Gene

GenScript: Design optimal peptide antigens:
  • RCSD domain-containing protein 1 (CPZIP_HUMAN)
genes like me logo Genes that share domains with RCSD1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RCSD1 Gene

Function for RCSD1 Gene

Molecular function for RCSD1 Gene

UniProtKB/Swiss-Prot Function:
Stress-induced phosphorylation of CAPZIP may regulate the ability of F-actin-capping protein to remodel actin filament assembly.

Phenotypes From GWAS Catalog for RCSD1 Gene

Gene Ontology (GO) - Molecular Function for RCSD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051015 actin filament binding IPI 15850461
genes like me logo Genes that share ontologies with RCSD1: view
genes like me logo Genes that share phenotypes with RCSD1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for RCSD1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RCSD1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RCSD1 Gene

Localization for RCSD1 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 RCSD1 gene
Compartment Confidence
cytoskeleton 4
nucleus 4
plasma membrane 3
cytosol 2
extracellular 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RCSD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005884 actin filament IC 15850461
genes like me logo Genes that share ontologies with RCSD1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RCSD1 Gene

Pathways & Interactions for RCSD1 Gene

PathCards logo

SuperPathways for RCSD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RCSD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003009 skeletal muscle contraction ISS --
GO:0071474 cellular hyperosmotic response IDA 15850461
genes like me logo Genes that share ontologies with RCSD1: view

No data available for Pathways by source and SIGNOR curated interactions for RCSD1 Gene

Drugs & Compounds for RCSD1 Gene

No Compound Related Data Available

Transcripts for RCSD1 Gene

mRNA/cDNA for RCSD1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RCSD1

Alternative Splicing Database (ASD) splice patterns (SP) for RCSD1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8
SP1: -
SP2: - -
SP3:

Relevant External Links for RCSD1 Gene

GeneLoc Exon Structure for
RCSD1

Expression for RCSD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RCSD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RCSD1 Gene

This gene is overexpressed in Whole Blood (x9.6) and Spleen (x4.6).

Protein differential expression in normal tissues from HIPED for RCSD1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (15.7), Lymph node (10.6), Lavage (10.4), and Adrenal (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RCSD1 Gene



Protein tissue co-expression partners for RCSD1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RCSD1

SOURCE GeneReport for Unigene cluster for RCSD1 Gene:

Hs.493867

mRNA Expression by UniProt/SwissProt for RCSD1 Gene:

Q6JBY9-CPZIP_HUMAN
Tissue specificity: Highly expressed in skeletal muscle and more weakly in cardiac muscle. Also expressed in several lymphoid organs, including spleen, thymus, peripheral blood leukocytes, lymph node and bone marrow.

Evidence on tissue expression from TISSUES for RCSD1 Gene

  • Blood(4.4)
  • Nervous system(4.3)
  • Liver(4.2)
  • Spleen(2.5)
  • Muscle(2.2)
  • Heart(2.1)
  • Bone marrow(2)
genes like me logo Genes that share expression patterns with RCSD1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RCSD1 Gene

Orthologs for RCSD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RCSD1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RCSD1 30 31
  • 99.44 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RCSD1 30 31
  • 82.41 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RCSD1 30 31
  • 77.92 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rcsd1 30
  • 72.57 (n)
Mouse
(Mus musculus)
Mammalia Rcsd1 30 17 31
  • 72.55 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RCSD1 31
  • 56 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RCSD1 31
  • 38 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RCSD1 30 31
  • 59.66 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RCSD1 31
  • 53 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii dub 31
  • 38 (a)
OneToMany
RCSD1 (2 of 2) 31
  • 35 (a)
OneToMany
Species where no ortholog for RCSD1 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)
  • Baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 Squirt (Ciona savignyi)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for RCSD1 Gene

ENSEMBL:
Gene Tree for RCSD1 (if available)
TreeFam:
Gene Tree for RCSD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RCSD1: view image

Paralogs for RCSD1 Gene

Paralogs for RCSD1 Gene

genes like me logo Genes that share paralogs with RCSD1: view

Variants for RCSD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RCSD1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs34699420 - p.Gln384Arg

Additional dbSNP identifiers (rs#s) for RCSD1 Gene

Structural Variations from Database of Genomic Variants (DGV) for RCSD1 Gene

Variant ID Type Subtype PubMed ID
esv3542167 CNV deletion 23714750
nsv1078878 OTHER inversion 25765185

Variation tolerance for RCSD1 Gene

Residual Variation Intolerance Score: 57.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.66; 31.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RCSD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RCSD1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RCSD1 Gene

Disorders for RCSD1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RCSD1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
cardiomyopathy, familial hypertrophic, 6
  • cmh6
- elite association - COSMIC cancer census association via MalaCards
Search RCSD1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RCSD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with RCSD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RCSD1 Gene

Publications for RCSD1 Gene

  1. The phosphorylation of CapZ-interacting protein (CapZIP) by stress-activated protein kinases triggers its dissociation from CapZ. (PMID: 15850461) Eyers CE … Cohen P (The Biochemical journal 2005) 2 3 4
  2. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PMID: 19536175) Ehret GB … Chakravarti A (European journal of human genetics : EJHG 2009) 3 41
  3. Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation. (PMID: 19064610) Cheung CL … Kung AW (Human molecular genetics 2009) 3 41
  4. Systematic identification of cancer cell vulnerabilities to natural killer cell-mediated immune surveillance. (PMID: 31452512) Pech MF … Settleman J (eLife 2019) 3
  5. A Genome-Wide Knockout Screen in Human Macrophages Identified Host Factors Modulating Salmonella Infection. (PMID: 31594818) Yeung ATY … Dougan G (mBio 2019) 3

Products for RCSD1 Gene

Sources for RCSD1 Gene