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CLASRP CLK4 associating serine/arginine rich protein [ Homo sapiens (human) ]

Gene ID: 11129, updated on 9-Feb-2020

Summary

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Official Symbol
CLASRPprovided by HGNC
Official Full Name
CLK4 associating serine/arginine rich proteinprovided by HGNC
Primary source
HGNC:HGNC:17731
See related
Ensembl:ENSG00000104859 MIM:618532
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
CLASP; SWAP2; SFRS16
Expression
Ubiquitous expression in bone marrow (RPKM 17.9), spleen (RPKM 17.1) and 25 other tissues See more
Orthologs
mouse all

Genomic context

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See CLASRP in Genome Data Viewer
Location:
19q13.32
Exon count:
21
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (45039045..45070956)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (45542298..45574214)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene CLPTM1 regulator of GABA type A receptor forward trafficking Neighboring gene RELB proto-oncogene, NF-kB subunit Neighboring gene RNA, U6 small nuclear 611, pseudogene Neighboring gene zinc finger protein 296 Neighboring gene gem nuclear organelle associated protein 7 Neighboring gene GEMIN7 antisense RNA 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 comparison of DNA methylation in newborn blood samples from infants with and without orofacial clefts. Xu Z, et al. Clin Epigenetics, 2019 Mar 4. PMID 30832715, Free PMC Article
  2. Novel SR-rich-related protein clasp specifically interacts with inactivated Clk4 and induces the exon EB inclusion of Clk. Katsu R, et al. J Biol Chem, 2002 Nov 15. PMID 12169693
  3. Characterization of cyclin L2, a novel cyclin with an arginine/serine-rich domain: phosphorylation by DYRK1A and colocalization with splicing factors. de Graaf K, et al. J Biol Chem, 2004 Feb 6. PMID 14623875
  4. Identification and characterization of essential genes in the human genome. Wang T, et al. Science, 2015 Nov 27. PMID 26472758, Free PMC Article
  5. A systematic screen for CDK4/6 substrates links FOXM1 phosphorylation to senescence suppression in cancer cells. Anders L, et al. Cancer Cell, 2011 Nov 15. PMID 22094256, Free PMC Article

See all (31) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Data identified a significantly differentially methylated cg26985354 near gene CLASRP to be associated with cleft lip and cleft palate.
    Title: A comparison of DNA methylation in newborn blood samples from infants with and without orofacial clefts.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ90109

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
RNA splicing IEA
Inferred from Electronic Annotation
more info
  
mRNA processing IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
CLK4-associating serine/arginine rich protein
Names
Clk4 associating SR-related protein
splicing factor, arginine/serine-rich 16 (suppressor-of-white-apricot homolog, Drosophila)
suppressor of white apricot homolog 2

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_001278439.2 → NP_001265368.1  CLK4-associating serine/arginine rich protein isoform 2

    See identical proteins and their annotated locations for NP_001265368.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame segment compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AF042800, AK293333
    Consensus CDS
    CCDS62710.1
    UniProtKB/Swiss-Prot
    Q8N2M8
    Related
    ENSP00000375815.3, ENST00000391953.8
    Conserved Domains (1) summary
    pfam09750
    Location:43 → 107
    DRY_EERY; Alternative splicing regulator

  2. NM_007056.3 → NP_008987.2  CLK4-associating serine/arginine rich protein isoform 1

    See identical proteins and their annotated locations for NP_008987.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AF042800
    Consensus CDS
    CCDS12652.2
    UniProtKB/Swiss-Prot
    Q8N2M8
    UniProtKB/TrEMBL
    A0A0A0MQS2
    Related
    ENSP00000221455.3, ENST00000221455.8
    Conserved Domains (1) summary
    pfam09750
    Location:41 → 169
    DRY_EERY; Alternative splicing regulator

RNA

  1. NR_103529.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice junction at the 3' end of an exon compared to variant 1, that causes a frameshift. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF042800, AY358944
    Related
    ENST00000391952.7

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    45039045..45070956
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011526396.2 → XP_011524698.1  CLK4-associating serine/arginine rich protein isoform X1

    Conserved Domains (1) summary
    pfam09750
    Location:41 → 169
    DRY_EERY; Alternative splicing regulator

  2. XM_011526397.3 → XP_011524699.1  CLK4-associating serine/arginine rich protein isoform X2

RNA

  1. XR_002958247.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N2M8.4 GenPept UniProtKB/Swiss-Prot:Q8N2M8

Gene LinkOut

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