NSRP1 - nuclear speckle splicing regulatory protein 1 Gene

Homo sapiens

Also known as CCDC55; NSrp70; HSPC095; NEDSSBA

Gene ID: 84081 | Gene type: protein coding

About NSRP1

Cytogenetic location: 17q11.2 Genomic coordinates (GRCh38): 17:30,116,816-30,186,475 (from NCBI)

This gene has 17 transcripts (splice variants), 201 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 8.3), thyroid (RPKM 8.1) and 25 other tissues.

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, Apr 2022]

NSRP1 Products(2)

mRNA	Protein	Name
NM_001261467.2	NP_001248396.1	nuclear speckle splicing regulatory protein 1 isoform 2
NM_032141.4	NP_115517.1	nuclear speckle splicing regulatory protein 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables mRNA binding	IDA IDA: Inferred from direct assay	21296756	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21296756	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in developmental process	IMP IMP: Inferred from mutant phenotype	21296756	GOA
involved in regulation of alternative mRNA splicing, via spliceosome	IDA IDA: Inferred from direct assay	21296756	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nuclear speck	IDA IDA: Inferred from direct assay	21296756	GOA
located in nucleus	IDA IDA: Inferred from direct assay	21296756	GOA
part of ribonucleoprotein complex	IDA IDA: Inferred from direct assay	21296756	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NSRP1 Protein Structure

DUF2040

0
100
200
300
400
500
558 a.a.

Protein Preferred Names

Protein Names

nuclear speckle splicing regulatory protein 1

coiled-coil domain containing 55

Related Diseases

Diseases

Alias

Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities

NEDSSBA

Spasticity

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Cerebral Palsy

Infantile Cerebral Palsy	Mixed Cerebral Palsy
Palsy Cerebral	Palsy, Cerebral
Cerebral Palsy, Mixed

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09600	NSRP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	NSRP1	VGNC	VGNC:99310
Canis familiaris	NSRP1	VGNC	VGNC:43989
Rattus norvegicus	NSRP1	RGD	RGD:1309863
Bos taurus	NSRP1	VGNC	VGNC:32284
Macaca mulatta	NSRP1	VGNC	VGNC:97797
Mus musculus	NSRP1	MGD	MGI:2144305

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