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  2. NSRP1 - nuclear speckle splicing regulatory protein 1 Gene

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

NSRP1 Protein Structure

DUF2040

DUF2040: Coiled-coil domain-containing protein 55 (DUF2040) (57 - 180)

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  • 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

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