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

Gene ID: 64651, updated on 14-Nov-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
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Genomic context

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See CSRNP1 in Genome Data Viewer
Location:
3p22.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (39141855..39154641, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (39154032..39166846, complement)
RS_2024_09 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 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. Silencing of cysteine and serine rich nuclear protein 1 inhibits apoptosis, senescence and collagen degradation in human-derived vaginal fibroblasts in response to oxidative stress or DNA damage. Zhu J, et al. Exp Cell Res, 2024 Jul 15. PMID 38908423
  3. 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
  4. 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
  5. 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

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Silencing of cysteine and serine rich nuclear protein 1 inhibits apoptosis, senescence and collagen degradation in human-derived vaginal fibroblasts in response to oxidative stress or DNA damage.
    Title: Silencing of cysteine and serine rich nuclear protein 1 inhibits apoptosis, senescence and collagen degradation in human-derived vaginal fibroblasts in response to oxidative stress or DNA damage.
  2. cFos bound to the AP-1 cis element within the proximal MMP1 promoter only when the gene was transcriptionally silent as previously observed for MMP13. cFos contributes to MMP1 expression. Silencing of ATF3 (a prime MMP13 modulator) did not affect MMP1 expression whilst silencing CSRNP1 resulted in substantial repression of MMP1 but not MMP13.
    Title: Cytokine-induced cysteine- serine-rich nuclear protein-1 (CSRNP1) selectively contributes to MMP1 expression in human chondrocytes.
  3. Three candidate tumor-suppressor genes, SEMA3B, AXUD1 and GNAT1 may be involved in oral squamous cell carcinoma.
    Title: Screening of candidate tumor-suppressor genes in 3p21.3 and investigation of the methylation of gene promoters in oral squamous cell carcinoma.
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

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)

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 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
located_in 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_2024_08

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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