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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
    mouse all
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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

    Gene LinkOut

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