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

Gene ID: 92241, updated on 5-Mar-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. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in lymph node (RPKM 25.8), spleen (RPKM 16.7) and 20 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (167630232..167708696)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (166981734..167060191)
105.20220307 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 (12) 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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ35362, MGC21854, MGC126585, MGC126611

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_2023_10

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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