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    CSRNP1 cysteine and serine rich nuclear protein 1 [ Homo sapiens (human) ]

    Gene ID: 64651, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CSRNP1provided by HGNC
    Official Full Name
    cysteine and serine rich nuclear protein 1provided by HGNC
    Primary source
    HGNC:HGNC:14300
    See related
    Ensembl:ENSG00000144655 MIM:606458; AllianceGenome:HGNC:14300
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AXUD1; URAX1; TAIP-3; CSRNP-1; FAM130B
    Summary
    This gene encodes a protein that localizes to the nucleus and expression of this gene is induced in response to elevated levels of axin. The Wnt signalling pathway, which is negatively regulated by axin, is important in axis formation in early development and impaired regulation of this signalling pathway is often involved in tumors. A decreased level of expression of this gene in tumors compared to the level of expression in their corresponding normal tissues suggests that this gene product has a tumor suppressor function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
    Expression
    Broad expression in bone marrow (RPKM 36.5), gall bladder (RPKM 21.9) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    3p22.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (39141855..39154641, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (39154032..39166846, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (39183346..39196132, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene WD repeat domain 48 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:39144473-39144972 Neighboring gene golgi reassembly stacking protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14217 Neighboring gene tetratricopeptide repeat domain 21A Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14218 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:39166834-39167009 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:39177733-39178638 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:39187593-39188286 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:39188287-39188980 Neighboring gene microRNA 6822 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14219 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19693 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:39193407-39194267 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:39194268-39195127 Neighboring gene uncharacterized LOC101928263 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:39195907-39196406 Neighboring gene Sharpr-MPRA regulatory region 1375 Neighboring gene uncharacterized LOC105377035 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14222 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:39232857-39233846 Neighboring gene xin actin binding repeat containing 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. Identification of AXUD1, a novel human gene induced by AXIN1 and its reduced expression in human carcinomas of the lung, liver, colon and kidney. Ishiguro H, et al. Oncogene, 2001 Aug 16. PMID 11526492
    2. Cytokine-induced cysteine- serine-rich nuclear protein-1 (CSRNP1) selectively contributes to MMP1 expression in human chondrocytes. Macdonald CD, et al. PLoS One, 2018. PMID 30440036, Free PMC Article
    3. Screening of candidate tumor-suppressor genes in 3p21.3 and investigation of the methylation of gene promoters in oral squamous cell carcinoma. Wang K, et al. Oncol Rep, 2013 Mar. PMID 23292452
    4. Characterization of a family of novel cysteine- serine-rich nuclear proteins (CSRNP). Gingras S, et al. PLoS One, 2007 Aug 29. PMID 17726538, Free PMC Article
    5. Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence. St Pourcain B, et al. Mol Autism, 2014 Feb 24. PMID 24564958, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    EBI GWAS Catalog

    Description
    Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.
    EBI GWAS Catalog

    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

    • DKFZp566F164

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-binding transcription factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in apoptotic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in face morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in platelet-derived growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in roof of mouth development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in skeletal system morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cysteine/serine-rich nuclear protein 1
    Names
    AXIN1 up-regulated 1
    TGF-beta-induced apoptosis protein 3
    axin-1 up-regulated gene 1 protein

    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.

    Genomic

    1. NG_047179.1 RefSeqGene

      Range
      6007..17743
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001320559.2 → NP_001307488.1  cysteine/serine-rich nuclear protein 1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC092053
      Conserved Domains (1) summary
      pfam16019
      Location:101 → 322
      CSRNP_N; Cysteine/serine-rich nuclear protein N-terminus

    2. NM_001320560.2 → NP_001307489.1  cysteine/serine-rich nuclear protein 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' terminal exon, resulting in a novel 5' UTR and the use of a downstream start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus compared to isoform a. Variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AB053121, AB063301, AC092053, BQ004661, BX397882
      Consensus CDS
      CCDS2682.1
      UniProtKB/Swiss-Prot
      Q69YY5, Q96S65
      Related
      ENSP00000422532.1, ENST00000514182.1
      Conserved Domains (1) summary
      pfam16019
      Location:81 → 302
      CSRNP_N; Cysteine/serine-rich nuclear protein N-terminus

    3. NM_033027.4 → NP_149016.2  cysteine/serine-rich nuclear protein 1 isoform b

      See identical proteins and their annotated locations for NP_149016.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon, resulting in a novel 5' UTR and the use of a downstream start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus compared to isoform a. Variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AC092053
      Consensus CDS
      CCDS2682.1
      UniProtKB/Swiss-Prot
      Q69YY5, Q96S65
      Related
      ENSP00000273153.5, ENST00000273153.10
      Conserved Domains (1) summary
      pfam16019
      Location:81 → 302
      CSRNP_N; Cysteine/serine-rich nuclear protein N-terminus

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      39141855..39154641 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448723.1 → XP_047304679.1  cysteine/serine-rich nuclear protein 1 isoform X2

      UniProtKB/Swiss-Prot
      Q69YY5, Q96S65

    2. XM_047448724.1 → XP_047304680.1  cysteine/serine-rich nuclear protein 1 isoform X2

      UniProtKB/Swiss-Prot
      Q69YY5, Q96S65

    3. XM_047448721.1 → XP_047304677.1  cysteine/serine-rich nuclear protein 1 isoform X1

    4. XM_017007049.2 → XP_016862538.1  cysteine/serine-rich nuclear protein 1 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      39154032..39166846 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347550.1 → XP_054203525.1  cysteine/serine-rich nuclear protein 1 isoform X2

    2. XM_054347552.1 → XP_054203527.1  cysteine/serine-rich nuclear protein 1 isoform X2

    3. XM_054347549.1 → XP_054203524.1  cysteine/serine-rich nuclear protein 1 isoform X1

    4. XM_054347551.1 → XP_054203526.1  cysteine/serine-rich nuclear protein 1 isoform X2

    5. XM_054347553.1 → XP_054203528.1  cysteine/serine-rich nuclear protein 1 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96S65.2 GenPept UniProtKB/Swiss-Prot:Q96S65

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