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    RCSD1 RCSD domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 92241, updated on 26-Nov-2024

    Summary

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    Official Symbol
    RCSD1provided by HGNC
    Official Full Name
    RCSD domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:28310
    See related
    Ensembl:ENSG00000198771 MIM:610579; AllianceGenome:HGNC:28310
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MK2S4; CAPZIP
    Summary
    Enables actin filament binding activity. Involved in cellular hyperosmotic response. Predicted to be located in actin filament. Predicted to be part of WASH complex. Predicted to be active in early endosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in lymph node (RPKM 25.8), spleen (RPKM 16.7) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RCSD1 in Genome Data Viewer
    Location:
    1q24.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (167630232..167708696)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (166981734..167060191)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (167599469..167677933)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene GATA motif-containing MPRA enhancer 235 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1530 Neighboring gene cellular repressor of E1A stimulated genes 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:167533326-167534525 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2042 Neighboring gene ribosomal protein S18 pseudogene 4 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:167586581-167587780 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2043 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2044 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2045 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1531 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1532 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2046 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:167604143-167604666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:167604667-167605189 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2047 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:167625876-167626070 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2048 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2049 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:167649515-167649718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2050 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:167658487-167659686 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:167666863-167667545 Neighboring gene Sharpr-MPRA regulatory region 8181 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2051 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:167682480-167683318 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1533 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1534 Neighboring gene tRNA-Pro (anticodon CGG) 1-1 Neighboring gene tRNA-Pro (anticodon AGG) 2-1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A new partner gene fused to ABL1 in a t(1;9)(q24;q34)-associated B-cell acute lymphoblastic leukemia. De Braekeleer E, et al. Leukemia, 2007 Oct. PMID 17541395
    2. The phosphorylation of CapZ-interacting protein (CapZIP) by stress-activated protein kinases triggers its dissociation from CapZ. Eyers CE, et al. Biochem J, 2005 Jul 1. PMID 15850461, Free PMC Article
    3. Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation. Cheung CL, et al. Hum Mol Genet, 2009 Feb 15. PMID 19064610
    4. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. Ehret GB, et al. Eur J Hum Genet, 2009 Dec. PMID 19536175, Free PMC Article
    5. A Genome-Wide Knockout Screen in Human Macrophages Identified Host Factors Modulating Salmonella Infection. Yeung ATY, et al. mBio, 2019 Oct 8. PMID 31594818, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.
    2. CapZIP is fused to ABL1 in a t(1;9)(q24;q34)-associated B-cell acute lymphoblastic leukemia
      Title: A new partner gene fused to ABL1 in a t(1;9)(q24;q34)-associated B-cell acute lymphoblastic leukemia.
    3. The structure and function of CapZ-interacting protein are reported.
      Title: The phosphorylation of CapZ-interacting protein (CapZIP) by stress-activated protein kinases triggers its dissociation from CapZ.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables actin filament binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables phosphatidylinositol phosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables retromer complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cellular hyperosmotic response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein localization to endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retrograde transport, endosome to Golgi IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in skeletal muscle contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in skeletal muscle contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of WASH complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in actin filament IC
    Inferred by Curator
    more info
    		 PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in early endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    capZ-interacting protein
    Names
    RCSD domain-containing protein 1
    protein kinase substrate CapZIP
    protein kinase substrate MK2S4

    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)

    1. NM_001322923.2 → NP_001309852.1  capZ-interacting protein isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL031733, AL356532
      Consensus CDS
      CCDS81396.1
      UniProtKB/TrEMBL
      B7ZKW8
      Related
      ENSP00000439409.1, ENST00000537350.5
      Conserved Domains (2) summary
      pfam05177
      Location:199 → 299
      RCSD; RCSD region
      pfam15255
      Location:51 → 136
      CAP-ZIP_m; WASH complex subunit CAP-Z interacting, central region

    2. NM_001322924.2 → NP_001309853.1  capZ-interacting protein isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL031733, AL356532

    3. NM_052862.4 → NP_443094.3  capZ-interacting protein isoform 1

      See identical proteins and their annotated locations for NP_443094.3

      Status: VALIDATED

      Source sequence(s)
      AL031733, AL356532, BC013186, BC101562, DR006615
      Consensus CDS
      CCDS1263.1
      UniProtKB/Swiss-Prot
      B1AK48, Q4G0E7, Q6IN93, Q6JBY9, Q8IZM2, Q96DX0, Q9NST4
      Related
      ENSP00000356828.3, ENST00000367854.8
      Conserved Domains (2) summary
      pfam05177
      Location:229 → 329
      RCSD; RCSD region
      pfam15255
      Location:81 → 166
      CAP-ZIP_m; WASH complex subunit CAP-Z interacting, central region

    RNA

    1. NR_136519.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL031733

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      167630232..167708696
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      166981734..167060191
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6JBY9.1 GenPept UniProtKB/Swiss-Prot:Q6JBY9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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