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    PNISR PNN interacting serine and arginine rich protein [ Homo sapiens (human) ]

    Gene ID: 25957, updated on 28-Oct-2024

    Summary

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    Official Symbol
    PNISRprovided by HGNC
    Official Full Name
    PNN interacting serine and arginine rich proteinprovided by HGNC
    Primary source
    HGNC:HGNC:21222
    See related
    Ensembl:ENSG00000132424 MIM:616653; AllianceGenome:HGNC:21222
    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
    SFRS18; HSPC306; SRrp130; C6orf111; bA98I9.2
    Summary
    Enables RNA binding activity. Located in cytosol; nuclear speck; and plasma membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in lymph node (RPKM 25.8), spleen (RPKM 24.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PNISR in Genome Data Viewer
    Location:
    6q16.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (99398050..99425308, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (100572403..100599652, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (99845926..99873184, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene failed axon connections homolog, metaxin like GST domain containing Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:99793932-99794432 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:99794433-99794933 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:99795824-99796388 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17414 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17415 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17416 Neighboring gene MPRA-validated peak5980 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:99841327-99841966 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:99849871-99851070 Neighboring gene coenzyme Q3, methyltransferase Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:99872987-99874186 Neighboring gene PNISR antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr6:99904596-99905315 Neighboring gene ubiquitin specific peptidase 45 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17417 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:99962307-99963214 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:99963215-99964120 Neighboring gene uncharacterized LOC124901365 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24857 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24859 Neighboring gene thiosulfate sulfurtransferase like domain containing 3

    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. Analysis of psoriasis-relevant gene expression and exon usage alterations after silencing of SR-rich splicing regulators. Szlavicz E, et al. Exp Dermatol, 2018 Jun. PMID 29512856
    2. Splicing factors differentially expressed in psoriasis alter mRNA maturation of disease-associated EDA+ fibronectin. Szlavicz E, et al. Mol Cell Biochem, 2017 Dec. PMID 28589370
    3. Pinin/DRS/memA interacts with SRp75, SRm300 and SRrp130 in corneal epithelial cells. Zimowska G, et al. Invest Ophthalmol Vis Sci, 2003 Nov. PMID 14578391
    4. The C. elegans homolog of human panic-disorder risk gene TMEM132D orchestrates neuronal morphogenesis through the WAVE-regulatory complex. Wang X, et al. Mol Brain, 2021 Mar 16. PMID 33726789, Free PMC Article
    5. The functional landscape of Hsp27 reveals new cellular processes such as DNA repair and alternative splicing and proposes novel anticancer targets. Katsogiannou M, et al. Mol Cell Proteomics, 2014 Dec. PMID 25277244, Free PMC Article

    See all (48) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ14752, FLJ14853, FLJ14992, FLJ90147, MGC104269, DKFZp564B0769

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nuclear speck IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in presynaptic active zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    arginine/serine-rich protein PNISR
    Names
    PNN-interacting serine/arginine-rich protein
    SR-related protein
    SR-rich protein
    serine-arginine-rich-splicing regulatory protein 130
    splicing factor, arginine/serine-rich 130
    splicing factor, arginine/serine-rich 18

    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_001322405.2 → NP_001309334.1  arginine/serine-rich protein PNISR isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4 and 5 all encode isoform a.
      Source sequence(s)
      AL513550, BC064413, BM893682, DA326969
      Consensus CDS
      CCDS5043.1
      UniProtKB/Swiss-Prot
      A8K540, E1P5D2, Q5T064, Q5T065, Q6P2B4, Q6P2N4, Q6PJ93, Q6PK36, Q7Z640, Q8N2L1, Q8TF00, Q8TF01, Q96K10, Q96SI3, Q96SM5, Q9P076, Q9P0C0, Q9Y4N3
      UniProtKB/TrEMBL
      A0A2R8Y2Y1
      Conserved Domains (1) summary
      pfam15996
      Location:223 → 380
      PNISR; Arginine/serine-rich protein PNISR

    2. NM_001322406.2 → NP_001309335.1  arginine/serine-rich protein PNISR isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4 and 5 all encode isoform a.
      Source sequence(s)
      AL513550, BC012780, BM893682, DA326969, DB186090
      Consensus CDS
      CCDS5043.1
      UniProtKB/Swiss-Prot
      A8K540, E1P5D2, Q5T064, Q5T065, Q6P2B4, Q6P2N4, Q6PJ93, Q6PK36, Q7Z640, Q8N2L1, Q8TF00, Q8TF01, Q96K10, Q96SI3, Q96SM5, Q9P076, Q9P0C0, Q9Y4N3
      UniProtKB/TrEMBL
      A0A2R8Y2Y1
      Related
      ENSP00000496842.1, ENST00000647811.1
      Conserved Domains (1) summary
      pfam15996
      Location:223 → 380
      PNISR; Arginine/serine-rich protein PNISR

    3. NM_001322408.2 → NP_001309337.1  arginine/serine-rich protein PNISR isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4 and 5 all encode isoform a.
      Source sequence(s)
      AL513550, BC012780, BM893682, BX648520, DA326969
      Consensus CDS
      CCDS5043.1
      UniProtKB/Swiss-Prot
      A8K540, E1P5D2, Q5T064, Q5T065, Q6P2B4, Q6P2N4, Q6PJ93, Q6PK36, Q7Z640, Q8N2L1, Q8TF00, Q8TF01, Q96K10, Q96SI3, Q96SM5, Q9P076, Q9P0C0, Q9Y4N3
      UniProtKB/TrEMBL
      A0A2R8Y2Y1
      Conserved Domains (1) summary
      pfam15996
      Location:223 → 380
      PNISR; Arginine/serine-rich protein PNISR

    4. NM_001322410.2 → NP_001309339.1  arginine/serine-rich protein PNISR isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) splices out a portion of the 3' terminal exon, resulting in an alternate 3' coding region, compared to variant 1. The encoded isoform (b) has a distinct and longer C-terminus, compared to isoform a. Variants 6, 7 and 8 all encode isoform b.
      Source sequence(s)
      AJ420559, AL513550, BC012780, BM893682, BQ000404, DA326969
      Consensus CDS
      CCDS93978.1
      UniProtKB/TrEMBL
      A0A2R8Y2Y1, A0A7P0Z4K1
      Conserved Domains (1) summary
      pfam15996
      Location:223 → 380
      PNISR; Arginine/serine-rich protein PNISR

    5. NM_001322412.2 → NP_001309341.1  arginine/serine-rich protein PNISR isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR and splices out a portion of the 3' terminal exon, resulting in an alternate 3' coding region, compared to variant 1. The encoded isoform (b) has a distinct and longer C-terminus, compared to isoform a. Variants 6, 7 and 8 all encode isoform b.
      Source sequence(s)
      AJ420559, AL513550, BC007791, BC012780, BM893682, BQ000404, DA326969
      Consensus CDS
      CCDS93978.1
      UniProtKB/TrEMBL
      A0A2R8Y2Y1, A0A7P0Z4K1
      Conserved Domains (1) summary
      pfam15996
      Location:223 → 380
      PNISR; Arginine/serine-rich protein PNISR

    6. NM_001322413.2 → NP_001309342.1  arginine/serine-rich protein PNISR isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR and splices out a portion of the 3' terminal exon, resulting in an alternate 3' coding region, compared to variant 1. The encoded isoform (b) has a distinct and longer C-terminus, compared to isoform a. Variants 6, 7 and 8 all encode isoform b.
      Source sequence(s)
      AF314184, AK074628, AL513550, BM893682, BQ000404
      Consensus CDS
      CCDS93978.1
      UniProtKB/TrEMBL
      A0A2R8Y2Y1, A0A7P0Z4K1
      Related
      ENSP00000506295.1, ENST00000681615.1
      Conserved Domains (1) summary
      pfam15996
      Location:223 → 380
      PNISR; Arginine/serine-rich protein PNISR

    7. NM_001322414.2 → NP_001309343.1  arginine/serine-rich protein PNISR isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a. Both variants 9 and 10 encode isoform c.
      Source sequence(s)
      AL513550, AW081113, BC012780, BM893682, DA326969
      UniProtKB/TrEMBL
      A0A2R8Y2Y1
      Conserved Domains (1) summary
      pfam15996
      Location:223 → 367
      PNISR; Arginine/serine-rich protein PNISR

    8. NM_001322415.2 → NP_001309344.1  arginine/serine-rich protein PNISR isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10) differs in the 5' UTR and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a. Both variants 9 and 10 encode isoform c.
      Source sequence(s)
      AK074628, AL513550, AW081113, BM893682
      UniProtKB/TrEMBL
      A0A2R8Y2Y1
      Conserved Domains (1) summary
      pfam15996
      Location:223 → 367
      PNISR; Arginine/serine-rich protein PNISR

    9. NM_001322416.2 → NP_001309345.1  arginine/serine-rich protein PNISR isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (11) uses an alternate splice site in the 3' terminal exon, resulting in an alternate 3' coding region, compared to variant 1. The encoded isoform (d) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AA626029, AL513550, BC012780, BM893682, DA326969
      Consensus CDS
      CCDS93977.1
      UniProtKB/TrEMBL
      A0A7P0T9Z6, Q8TEZ9
      Related
      ENSP00000505930.1, ENST00000681611.1
      Conserved Domains (1) summary
      pfam15996
      Location:223 → 380
      PNISR; Arginine/serine-rich protein PNISR

    10. NM_001322417.2 → NP_001309346.1  arginine/serine-rich protein PNISR isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (12) lacks several 3' exons but contains an alternate 3' terminal exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (e) has a distinct C-terminus and is significantly shorter than isoform a.
      Source sequence(s)
      BC012780, BM674898, BU675213, BX648520, DA326969, DA948286, DB108627
      UniProtKB/TrEMBL
      Q6PJQ9
      Related
      ENSP00000506528.1, ENST00000679525.1

    11. NM_001322418.2 → NP_001309347.1  arginine/serine-rich protein PNISR isoform f

      Status: VALIDATED

      Description
      Transcript Variant: This variant (13) differs in the 5' UTR and lacks several 3' exons but contains an alternate 3' terminal exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (f) has a distinct C-terminus and is significantly shorter than isoform a. Both variants 13 and 14 encode isoform f.
      Source sequence(s)
      BM674898, BU675213, BX648520, DA326969, DA948286, DB108627
      UniProtKB/TrEMBL
      Q3B7B6

    12. NM_001322419.2 → NP_001309348.1  arginine/serine-rich protein PNISR isoform f

      Status: VALIDATED

      Description
      Transcript Variant: This variant (14) lacks several 3' exons but contains an alternate 3' terminal exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (f) has a distinct C-terminus and is significantly shorter than isoform a. Both variants 13 and 14 encode isoform f.
      Source sequence(s)
      BC107700, BM674898, BU675213, BX648520, DA326969, DA948286, DB108627
      UniProtKB/TrEMBL
      Q3B7B6

    13. NM_015491.3 → NP_056306.1  arginine/serine-rich protein PNISR isoform a

      See identical proteins and their annotated locations for NP_056306.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4 and 5 all encode isoform a.
      Source sequence(s)
      AK074628, AL513550, BM893682
      Consensus CDS
      CCDS5043.1
      UniProtKB/Swiss-Prot
      A8K540, E1P5D2, Q5T064, Q5T065, Q6P2B4, Q6P2N4, Q6PJ93, Q6PK36, Q7Z640, Q8N2L1, Q8TF00, Q8TF01, Q96K10, Q96SI3, Q96SM5, Q9P076, Q9P0C0, Q9Y4N3
      UniProtKB/TrEMBL
      A0A2R8Y2Y1
      Related
      ENSP00000387997.1, ENST00000438806.5
      Conserved Domains (1) summary
      pfam15996
      Location:223 → 380
      PNISR; Arginine/serine-rich protein PNISR

    14. NM_032870.4 → NP_116259.2  arginine/serine-rich protein PNISR isoform a

      See identical proteins and their annotated locations for NP_116259.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform a. Variants 1, 2, 3, 4 and 5 all encode the same isoform.
      Source sequence(s)
      AL513550, BC012780, BM893682, DA326969
      Consensus CDS
      CCDS5043.1
      UniProtKB/Swiss-Prot
      A8K540, E1P5D2, Q5T064, Q5T065, Q6P2B4, Q6P2N4, Q6PJ93, Q6PK36, Q7Z640, Q8N2L1, Q8TF00, Q8TF01, Q96K10, Q96SI3, Q96SM5, Q9P076, Q9P0C0, Q9Y4N3
      UniProtKB/TrEMBL
      A0A2R8Y2Y1
      Related
      ENSP00000358242.5, ENST00000369239.10
      Conserved Domains (1) summary
      pfam15996
      Location:223 → 380
      PNISR; Arginine/serine-rich protein PNISR

    RNA

    1. NR_136326.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (15) lacks an alternate exon in the 5' region and retains an intron in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK027658, AK074628, AL513550, BM893682, DA568256

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      99398050..99425308 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005266912.5 → XP_005266969.4  arginine/serine-rich protein PNISR isoform X1

      UniProtKB/TrEMBL
      A0A7P0Z4K1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      100572403..100599652 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355126.1 → XP_054211101.1  arginine/serine-rich protein PNISR isoform X1

      UniProtKB/TrEMBL
      A0A7P0Z4K1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TF01.2 GenPept UniProtKB/Swiss-Prot:Q8TF01

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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