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

Summary

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

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.

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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 EBI GWAS CatalogPubMed

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

D3S3824 (e-PCR)
- UniSTS:21259

RH80080 (e-PCR)
- UniSTS:86336

D3S3605 (e-PCR)
- UniSTS:4231

SHGC-76832 (e-PCR)
- UniSTS:76949

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

NG_047179.1 RefSeqGene

Range

6007..17743

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

39141855..39154641 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

Q69YY5, Q96S65
XM_047448724.1 → XP_047304680.1 cysteine/serine-rich nuclear protein 1 isoform X2

UniProtKB/Swiss-Prot

Q69YY5, Q96S65
XM_047448721.1 → XP_047304677.1 cysteine/serine-rich nuclear protein 1 isoform X1
XM_017007049.2 → XP_016862538.1 cysteine/serine-rich nuclear protein 1 isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060927.1 Alternate T2T-CHM13v2.0

Range

39154032..39166846 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054347550.1 → XP_054203525.1 cysteine/serine-rich nuclear protein 1 isoform X2
XM_054347552.1 → XP_054203527.1 cysteine/serine-rich nuclear protein 1 isoform X2
XM_054347549.1 → XP_054203524.1 cysteine/serine-rich nuclear protein 1 isoform X1
XM_054347551.1 → XP_054203526.1 cysteine/serine-rich nuclear protein 1 isoform X2
XM_054347553.1 → XP_054203528.1 cysteine/serine-rich nuclear protein 1 isoform X3