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NSRP1 nuclear speckle splicing regulatory protein 1 [ Homo sapiens (human) ]

Gene ID: 84081, updated on 27-Nov-2024

Summary

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Official Symbol
NSRP1provided by HGNC
Official Full Name
nuclear speckle splicing regulatory protein 1provided by HGNC
Primary source
HGNC:HGNC:25305
See related
Ensembl:ENSG00000126653 MIM:616173; AllianceGenome:HGNC:25305
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
CCDC55; NSrp70; HSPC095; NEDSSBA
Summary
Enables mRNA binding activity. Involved in developmental process and regulation of alternative mRNA splicing, via spliceosome. Located in nuclear speck. Part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in testis (RPKM 8.3), thyroid (RPKM 8.1) and 25 other tissues See more
Orthologs
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Genomic context

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See NSRP1 in Genome Data Viewer
Location:
17q11.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (30116816..30186475)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (31060871..31131032)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (28443834..28513493)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene EF-hand calcium binding domain 5 Neighboring gene RNY4 pseudogene 13 Neighboring gene syntaxin 18 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8392 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:28432062-28432163 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:28443345-28444544 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:28468415-28468916 Neighboring gene microRNA 3184 Neighboring gene microRNA 423 Neighboring gene uncharacterized LOC124903970 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11991 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:28549461-28549976 Neighboring gene solute carrier family 6 member 4 Neighboring gene MPRA-validated peak2787 silencer Neighboring gene serotonin transporter intronic VNTR enhancer Neighboring gene solute carrier family 6 member 4 gene promoter Neighboring gene uncharacterized LOC105371720 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:28565347-28566247 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:28575475-28576674 Neighboring gene bleomycin hydrolase

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. Aberrant proteomic expression of NSRP70 and its clinical implications and connection to the transcriptional level in adult acute leukemia. Choi DB, et al. Leuk Res, 2014 Oct. PMID 25176346
  2. Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy. Calame DG, et al. Genet Med, 2021 Dec. PMID 34385670, Free PMC Article
  3. NSrp70 suppresses metastasis in triple-negative breast cancer by modulating Numb/TβR1/EMT axis. Zhao Y, et al. Oncogene, 2022 Jun. PMID 35568738
  4. Nuclear Speckle-related Protein 70 Binds to Serine/Arginine-rich Splicing Factors 1 and 2 via an Arginine/Serine-like Region and Counteracts Their Alternative Splicing Activity. Kim CH, et al. J Biol Chem, 2016 Mar 18. PMID 26797131, Free PMC Article
  5. The CCDC55 couples cannabinoid receptor CNR1 to a putative DISC1 schizophrenia pathway. Xie J, et al. Neuroscience, 2015 Dec 3. PMID 26475744

See all (70) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. NSrp70 suppresses metastasis in triple-negative breast cancer by modulating Numb/TbetaR1/EMT axis.
    Title: NSrp70 suppresses metastasis in triple-negative breast cancer by modulating Numb/TβR1/EMT axis.
  2. Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy.
    Title: Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy.
  3. Coiled coil domain-containing 55 gene may be involved in a functional bridging between the CNR1 activation and the disrupted in schizophrenia 1/Ran binding protein 9-associated pathways.
    Title: The CCDC55 couples cannabinoid receptor CNR1 to a putative DISC1 schizophrenia pathway.
  4. NSrp70 acts as a new molecular counterpart for alternative splicing of target RNA, counteracting SRSF1 and SRSF2 splicing activity.
    Title: Nuclear Speckle-related Protein 70 Binds to Serine/Arginine-rich Splicing Factors 1 and 2 via an Arginine/Serine-like Region and Counteracts Their Alternative Splicing Activity.
  5. We showed that NSRP70 is a novel lymphoblastic acute leukemia surrogate marker
    Title: Aberrant proteomic expression of NSRP70 and its clinical implications and connection to the transcriptional level in adult acute leukemia.
  6. Observational study of gene-disease association. (HuGE Navigator)
    Title: Single nucleotide polymorphisms of microRNA machinery genes modify the risk of renal 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

Associated conditions

Description Tests
Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities
MedGen: C5774197 OMIM: 620001 GeneReviews: Not available
not available

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

  • FLJ37233, DKFZp434K1421

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables mRNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in RNA splicing IEA
Inferred from Electronic Annotation
more info
  
involved_in developmental process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in in utero embryonic development IEA
Inferred from Electronic Annotation
more info
  
involved_in mRNA processing IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of alternative mRNA splicing, via spliceosome IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in nuclear speck IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
part_of ribonucleoprotein complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
nuclear speckle splicing regulatory protein 1
Names
coiled-coil domain containing 55
coiled-coil domain-containing protein 55
nuclear speckle-related protein 70

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_001261467.2 → NP_001248396.1  nuclear speckle splicing regulatory protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001248396.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 5' coding region, compared to variant 1, which results in a protein (isoform 2) with a shorter N-terminus, compared to isoform (1).
    Source sequence(s)
    AA811439, AL136806, BC143539, DC327004
    Consensus CDS
    CCDS74025.1
    UniProtKB/TrEMBL
    A0A024QZ33, B7ZL27
    Related
    ENSP00000477862.1, ENST00000612959.4
    Conserved Domains (1) summary
    pfam09745
    Location:4 → 123
    DUF2040; Coiled-coil domain-containing protein 55 (DUF2040)

  2. NM_032141.4 → NP_115517.1  nuclear speckle splicing regulatory protein 1 isoform 1

    See identical proteins and their annotated locations for NP_115517.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AA811439, AL136806, BC105044, DC327004
    Consensus CDS
    CCDS11255.1
    UniProtKB/Swiss-Prot
    Q6FI71, Q9H0G5
    UniProtKB/TrEMBL
    B2R9Y2
    Related
    ENSP00000247026.5, ENST00000247026.10
    Conserved Domains (1) summary
    pfam09745
    Location:58 → 177
    DUF2040; Coiled-coil domain-containing protein 55 (DUF2040)

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    30116816..30186475
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047436916.1 → XP_047292872.1  nuclear speckle splicing regulatory protein 1 isoform X1

  2. XM_047436918.1 → XP_047292874.1  nuclear speckle splicing regulatory protein 1 isoform X2

  3. XM_011525345.3 → XP_011523647.1  nuclear speckle splicing regulatory protein 1 isoform X3

    UniProtKB/TrEMBL
    B7ZL27
    Conserved Domains (1) summary
    pfam09745
    Location:37 → 156
    DUF2040; Coiled-coil domain-containing protein 55 (DUF2040)

  4. XM_047436917.1 → XP_047292873.1  nuclear speckle splicing regulatory protein 1 isoform X2

  5. XM_047436920.1 → XP_047292876.1  nuclear speckle splicing regulatory protein 1 isoform X4

    UniProtKB/TrEMBL
    A0A024QZ33

  6. XM_047436919.1 → XP_047292875.1  nuclear speckle splicing regulatory protein 1 isoform X4

    UniProtKB/TrEMBL
    A0A024QZ33

  7. XM_047436921.1 → XP_047292877.1  nuclear speckle splicing regulatory protein 1 isoform X4

    UniProtKB/TrEMBL
    A0A024QZ33

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    31060871..31131032
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054317533.1 → XP_054173508.1  nuclear speckle splicing regulatory protein 1 isoform X1

  2. XM_054317535.1 → XP_054173510.1  nuclear speckle splicing regulatory protein 1 isoform X2

  3. XM_054317536.1 → XP_054173511.1  nuclear speckle splicing regulatory protein 1 isoform X3

  4. XM_054317534.1 → XP_054173509.1  nuclear speckle splicing regulatory protein 1 isoform X2

  5. XM_054317538.1 → XP_054173513.1  nuclear speckle splicing regulatory protein 1 isoform X4

    UniProtKB/TrEMBL
    A0A024QZ33

  6. XM_054317537.1 → XP_054173512.1  nuclear speckle splicing regulatory protein 1 isoform X4

    UniProtKB/TrEMBL
    A0A024QZ33

  7. XM_054317539.1 → XP_054173514.1  nuclear speckle splicing regulatory protein 1 isoform X4

    UniProtKB/TrEMBL
    A0A024QZ33

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001033563.1: Suppressed sequence

    Description
    NM_001033563.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H0G5.1 GenPept UniProtKB/Swiss-Prot:Q9H0G5

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