NOSIP nitric oxide synthase interacting protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: NOSIPprovided by HGNC
Official Full Name: nitric oxide synthase interacting proteinprovided by HGNC
Primary source: HGNC:HGNC:17946
See related: Ensembl:ENSG00000142546 MIM:616759; AllianceGenome:HGNC:17946
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CGI-25
Summary: The protein encoded by this gene may modulate the activity and localization of nitric oxide synthase (endothelial and neuronal) and thus nitric oxide production. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Aug 2012]
Expression: Ubiquitous expression in testis (RPKM 21.1), lymph node (RPKM 12.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.33

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (49555468..49580556, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (52555474..52580588, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (50058725..50083813, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Transportin 1 is a major nuclear import receptor of the nitric oxide synthase interacting protein.
Title: Transportin 1 is a major nuclear import receptor of the nitric oxide synthase interacting protein.
nNOS induction and NOSIP interaction impact granulopoiesis and neutrophil differentiation by modulating nitric oxide generation.
Title: nNOS induction and NOSIP interaction impact granulopoiesis and neutrophil differentiation by modulating nitric oxide generation.
While NOSIP expression was increased in Hirschsprung's disease (HSCR) vs. non- HSCR patients, no significant difference was observed in patients with Hirschsprung's associated enterocolitis. The increased expression of NOSIP in the aganglionic and ganglionic bowel of HSCR may contribute to the development of enterocolitis by inhibiting local nitric oxide production in patients with Hirschsprung's disease.
Title: NOS-interacting protein (NOSIP) is increased in the colon of patients with Hirschsprungs's disease.
Endogenous NOSIP reduces the enzymatic capacity of eNOS, specifically in the G(2) phase of the cell cycle by targeting eNOS to the actin cytoskeleton.
Title: Cell cycle-regulated inactivation of endothelial NO synthase through NOSIP-dependent targeting to the cytoskeleton.
endothelial nitric oxide synthase (eNOS) interacting protein (NOSIP), modulator of eNOS activity by alteration of eNOS subcellular localisation; high expression levels in endothelial cells and vascularized tissue.
Title: NOSIP, a novel modulator of endothelial nitric oxide synthase activity.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables molecular sequestering activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in negative regulation of catalytic activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of nitric-oxide synthase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of nitric oxide biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: nitric oxide synthase-interacting protein

Names: E3 ubiquitin-protein ligase NOSIP; RING-type E3 ubiquitin transferase NOSIP; eNOS-interacting protein

NP_001257889.1

EC 2.3.2.27

NP_001350578.1

EC 2.3.2.27

NP_057037.1

EC 2.3.2.27

XP_005259021.1

EC 2.3.2.27

XP_011525317.1

EC 2.3.2.27

XP_011525319.1

EC 2.3.2.27

XP_016882340.1

EC 2.3.2.27

XP_016882341.1

EC 2.3.2.27

XP_047294851.1

EC 2.3.2.27

XP_047294852.1

EC 2.3.2.27

XP_054177115.1

EC 2.3.2.27

XP_054177116.1

EC 2.3.2.27

XP_054177117.1

EC 2.3.2.27

XP_054177118.1

EC 2.3.2.27

XP_054177119.1

EC 2.3.2.27

XP_054177120.1

EC 2.3.2.27

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_001270960.2 → NP_001257889.1 nitric oxide synthase-interacting protein isoform 1

See identical proteins and their annotated locations for NP_001257889.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).

Source sequence(s)

BC009299, BE826708, DB470916

Consensus CDS

CCDS12772.1

UniProtKB/Swiss-Prot

Q96FD2, Q9Y314

UniProtKB/TrEMBL

A8K670

Related

ENSP00000470034.1, ENST00000596358.6

Conserved Domains (2) summary

pfam15906
Location:4 → 78

zf-NOSIP; Zinc-finger of nitric oxide synthase-interacting protein

cd16662
Location:220 → 284

RING-Ubox2_NOSIP; U-box domain 2, a modified RING finger, found in nitric oxide synthase-interacting protein (NOSIP) and similar proteins
NM_001363649.2 → NP_001350578.1 nitric oxide synthase-interacting protein isoform 2

Status: REVIEWED

Source sequence(s)

AC010619, AI311486, BC010077, BE786274, DB470916

Consensus CDS

CCDS86789.1

UniProtKB/TrEMBL

A0A075B6F9, A8K670

Conserved Domains (2) summary

pfam15906
Location:4 → 78

zf-NOSIP; Zinc-finger of nitric oxide synthase-interacting protein

cd16662
Location:223 → 287

RING-Ubox2_NOSIP; U-box domain 2, a modified RING finger, found in nitric oxide synthase-interacting protein (NOSIP) and similar proteins
NM_015953.5 → NP_057037.1 nitric oxide synthase-interacting protein isoform 1

See identical proteins and their annotated locations for NP_057037.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Both variants 1 and 2 encode the same isoform (1).

Source sequence(s)

BC010077, BE826708, DB470916

Consensus CDS

CCDS12772.1

UniProtKB/Swiss-Prot

Q96FD2, Q9Y314

UniProtKB/TrEMBL

A8K670

Conserved Domains (2) summary

pfam15906
Location:4 → 78

zf-NOSIP; Zinc-finger of nitric oxide synthase-interacting protein

cd16662
Location:220 → 284

RING-Ubox2_NOSIP; U-box domain 2, a modified RING finger, found in nitric oxide synthase-interacting protein (NOSIP) and similar proteins

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

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

49555468..49580556 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005258964.6 → XP_005259021.1 nitric oxide synthase-interacting protein isoform X2

See identical proteins and their annotated locations for XP_005259021.1

UniProtKB/TrEMBL

A0A075B6F9, A8K670

Related

ENSP00000343497.3, ENST00000339093.7

Conserved Domains (2) summary

pfam15906
Location:4 → 78

zf-NOSIP; Zinc-finger of nitric oxide synthase-interacting protein

cd16662
Location:223 → 287

RING-Ubox2_NOSIP; U-box domain 2, a modified RING finger, found in nitric oxide synthase-interacting protein (NOSIP) and similar proteins
XM_017026851.2 → XP_016882340.1 nitric oxide synthase-interacting protein isoform X3

UniProtKB/Swiss-Prot

Q96FD2, Q9Y314

UniProtKB/TrEMBL

A8K670

Conserved Domains (2) summary

pfam15906
Location:4 → 78

zf-NOSIP; Zinc-finger of nitric oxide synthase-interacting protein

cd16662
Location:220 → 284

RING-Ubox2_NOSIP; U-box domain 2, a modified RING finger, found in nitric oxide synthase-interacting protein (NOSIP) and similar proteins
XM_047438895.1 → XP_047294851.1 nitric oxide synthase-interacting protein isoform X2

UniProtKB/TrEMBL

A0A075B6F9, A8K670
XM_017026852.2 → XP_016882341.1 nitric oxide synthase-interacting protein isoform X3

UniProtKB/Swiss-Prot

Q96FD2, Q9Y314

UniProtKB/TrEMBL

A8K670

Conserved Domains (2) summary

pfam15906
Location:4 → 78

zf-NOSIP; Zinc-finger of nitric oxide synthase-interacting protein

cd16662
Location:220 → 284

RING-Ubox2_NOSIP; U-box domain 2, a modified RING finger, found in nitric oxide synthase-interacting protein (NOSIP) and similar proteins
XM_011527017.3 → XP_011525319.1 nitric oxide synthase-interacting protein isoform X4

UniProtKB/TrEMBL

A8K670

Conserved Domains (2) summary

pfam15906
Location:5 → 79

zf-NOSIP; Zinc-finger of nitric oxide synthase-interacting protein

cl17238
Location:151 → 277

RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
XM_011527015.3 → XP_011525317.1 nitric oxide synthase-interacting protein isoform X1

UniProtKB/TrEMBL

A8K670

Conserved Domains (2) summary

pfam15906
Location:5 → 79

zf-NOSIP; Zinc-finger of nitric oxide synthase-interacting protein

cl17238
Location:154 → 280

RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
XM_047438896.1 → XP_047294852.1 nitric oxide synthase-interacting protein isoform X5

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

52555474..52580588 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054321141.1 → XP_054177116.1 nitric oxide synthase-interacting protein isoform X2

UniProtKB/TrEMBL

A0A075B6F9, A8K670
XM_054321142.1 → XP_054177117.1 nitric oxide synthase-interacting protein isoform X3

UniProtKB/Swiss-Prot

Q96FD2, Q9Y314

UniProtKB/TrEMBL

A8K670
XM_054321144.1 → XP_054177119.1 nitric oxide synthase-interacting protein isoform X3

UniProtKB/Swiss-Prot

Q96FD2, Q9Y314

UniProtKB/TrEMBL

A8K670
XM_054321143.1 → XP_054177118.1 nitric oxide synthase-interacting protein isoform X4

UniProtKB/TrEMBL

A8K670
XM_054321140.1 → XP_054177115.1 nitric oxide synthase-interacting protein isoform X1

UniProtKB/TrEMBL

A8K670
XM_054321145.1 → XP_054177120.1 nitric oxide synthase-interacting protein isoform X5