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

Summary

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

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_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

In our present RNA-Seq experiment, we demonstrated that the LUC7L3 and SFRS18 splicing factors contribute to the regulation of several well-known psoriasis-associated pathways, including the IFN signalling pathway, antiviral immunity and ubiquitination.
Title: Analysis of psoriasis-relevant gene expression and exon usage alterations after silencing of SR-rich splicing regulators.
results indicate that LUC7L3, PPIG, and SFRS18 are not only implicated in EDA+ fibronectin formation, but also that they could possess multiple roles in psoriasis-associated molecular abnormalities.
Title: Splicing factors differentially expressed in psoriasis alter mRNA maturation of disease-associated EDA+ fibronectin.

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

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

RH46368 (e-PCR)
- UniSTS:76802

D6S2112 (e-PCR)
- UniSTS:35586

DKFZp564B0769 (e-PCR)
- UniSTS:278291

RH46722 (e-PCR)
- UniSTS:74625

RH124333 (e-PCR)
- UniSTS:161155

SHGC-132137 (e-PCR)
- UniSTS:170668

RH46784 (e-PCR)
- UniSTS:40669

Clone Names

FLJ14752, FLJ14853, FLJ14992, FLJ90147, MGC104269, DKFZp564B0769

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	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)

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
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
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
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
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
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
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
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
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
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
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
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
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
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

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