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

Gene ID: 25957, updated on 2-Nov-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, Nov 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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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

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