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

Gene ID: 64651, updated on 3-Jun-2018
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; Vega:OTTHUMG00000131293
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
See CSRNP1 in Genome Data Viewer
Location:
3p22.2
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (39141851..39154602, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (39183342..39196093, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene WD repeat domain 48 Neighboring gene golgi reassembly stacking protein 1 Neighboring gene tetratricopeptide repeat domain 21A Neighboring gene microRNA 6822 Neighboring gene uncharacterized LOC101928263 Neighboring gene uncharacterized LOC105377035 Neighboring gene xin actin binding repeat containing 1

  • 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 Jun 15 11:32:44 2016

NHGRI GWAS Catalog

Description
Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • DKFZp566F164

Gene Ontology Provided by GOA

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

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
    4996..17747
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001320559.1NP_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:101322
    CSRNP_N; Cysteine/serine-rich nuclear protein N-terminus
  2. NM_001320560.1NP_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
    Q96S65
    UniProtKB/TrEMBL
    A0A024R2N7
    Related
    ENSP00000422532.1, OTTHUMP00000208991, ENST00000514182.1, OTTHUMT00000342527
    Conserved Domains (1) summary
    pfam16019
    Location:81302
    CSRNP_N; Cysteine/serine-rich nuclear protein N-terminus
  3. NM_033027.3NP_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
    Q96S65
    UniProtKB/TrEMBL
    A0A024R2N7
    Related
    ENSP00000273153.5, OTTHUMP00000161967, ENST00000273153.9, OTTHUMT00000254061
    Conserved Domains (1) summary
    pfam16019
    Location:81302
    CSRNP_N; Cysteine/serine-rich nuclear protein N-terminus

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    39141851..39154602 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007049.1XP_016862538.1  cysteine/serine-rich nuclear protein 1 isoform X1

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