Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	84081
Gene name	Nuclear speckle splicing regulatory protein 1
Gene symbol	NSRP1
Synonyms (NCBI Gene)	CCDC55HSPC095NEDSSBANSrp70
Chromosome	17
Chromosome location	17q11.2

149

Show/Hide all (149)

miRTarBase ID	miRNA	Experiments	Reference
MIRT045111	hsa-miR-186-5p	CLASH	23622248
MIRT042920	hsa-miR-324-3p	CLASH	23622248
MIRT1195386	hsa-miR-1238	CLIP-seq
MIRT1195387	hsa-miR-1911	CLIP-seq
MIRT1195388	hsa-miR-329	CLIP-seq
MIRT1195389	hsa-miR-362-3p	CLIP-seq
MIRT1195390	hsa-miR-3647-3p	CLIP-seq
MIRT1195391	hsa-miR-365	CLIP-seq
MIRT1195392	hsa-miR-3924	CLIP-seq
MIRT1195393	hsa-miR-3941	CLIP-seq
MIRT1195394	hsa-miR-410	CLIP-seq
MIRT1195395	hsa-miR-4282	CLIP-seq
MIRT1195396	hsa-miR-4290	CLIP-seq
MIRT1195397	hsa-miR-4528	CLIP-seq
MIRT1195398	hsa-miR-513a-3p	CLIP-seq
MIRT1195399	hsa-miR-548c-3p	CLIP-seq
MIRT1195400	hsa-miR-603	CLIP-seq
MIRT1551872	hsa-miR-3157-5p	CLIP-seq
MIRT1551873	hsa-miR-4691-3p	CLIP-seq
MIRT2056674	hsa-miR-122	CLIP-seq
MIRT2056675	hsa-miR-3198	CLIP-seq
MIRT2056676	hsa-miR-3622b-5p	CLIP-seq
MIRT2056677	hsa-miR-4309	CLIP-seq
MIRT2056678	hsa-miR-4423-5p	CLIP-seq
MIRT2056679	hsa-miR-4726-3p	CLIP-seq
MIRT2056680	hsa-miR-487a	CLIP-seq
MIRT2056681	hsa-miR-944	CLIP-seq
MIRT2285131	hsa-miR-1207-3p	CLIP-seq
MIRT2056674	hsa-miR-122	CLIP-seq
MIRT2285132	hsa-miR-1267	CLIP-seq
MIRT2285133	hsa-miR-194	CLIP-seq
MIRT2285134	hsa-miR-3152-5p	CLIP-seq
MIRT2056675	hsa-miR-3198	CLIP-seq
MIRT2056676	hsa-miR-3622b-5p	CLIP-seq
MIRT2056677	hsa-miR-4309	CLIP-seq
MIRT2056678	hsa-miR-4423-5p	CLIP-seq
MIRT2285135	hsa-miR-4652-3p	CLIP-seq
MIRT2056679	hsa-miR-4726-3p	CLIP-seq
MIRT2285136	hsa-miR-4778-5p	CLIP-seq
MIRT2056680	hsa-miR-487a	CLIP-seq
MIRT2056674	hsa-miR-122	CLIP-seq
MIRT2056675	hsa-miR-3198	CLIP-seq
MIRT2056676	hsa-miR-3622b-5p	CLIP-seq
MIRT2056677	hsa-miR-4309	CLIP-seq
MIRT2056678	hsa-miR-4423-5p	CLIP-seq
MIRT2391767	hsa-miR-4432	CLIP-seq
MIRT2391768	hsa-miR-4499	CLIP-seq
MIRT2391769	hsa-miR-4513	CLIP-seq
MIRT2056679	hsa-miR-4726-3p	CLIP-seq
MIRT2391770	hsa-miR-499-5p	CLIP-seq
MIRT2455487	hsa-miR-1182	CLIP-seq
MIRT2285132	hsa-miR-1267	CLIP-seq
MIRT2455488	hsa-miR-3065-5p	CLIP-seq
MIRT2455489	hsa-miR-3074-5p	CLIP-seq
MIRT2056678	hsa-miR-4423-5p	CLIP-seq
MIRT2285135	hsa-miR-4652-3p	CLIP-seq
MIRT2056679	hsa-miR-4726-3p	CLIP-seq
MIRT2455490	hsa-miR-4766-5p	CLIP-seq
MIRT2455491	hsa-miR-4772-3p	CLIP-seq
MIRT2285136	hsa-miR-4778-5p	CLIP-seq
MIRT2455487	hsa-miR-1182	CLIP-seq
MIRT2056674	hsa-miR-122	CLIP-seq
MIRT1195386	hsa-miR-1238	CLIP-seq
MIRT2583144	hsa-miR-1245	CLIP-seq
MIRT2285132	hsa-miR-1267	CLIP-seq
MIRT2583145	hsa-miR-142-3p	CLIP-seq
MIRT2583146	hsa-miR-214	CLIP-seq
MIRT2583147	hsa-miR-3126-3p	CLIP-seq
MIRT2583148	hsa-miR-3176	CLIP-seq
MIRT2056675	hsa-miR-3198	CLIP-seq
MIRT2583149	hsa-miR-323b-5p	CLIP-seq
MIRT2583150	hsa-miR-3619-5p	CLIP-seq
MIRT2583151	hsa-miR-3622a-5p	CLIP-seq
MIRT2056676	hsa-miR-3622b-5p	CLIP-seq
MIRT1195390	hsa-miR-3647-3p	CLIP-seq
MIRT1195391	hsa-miR-365	CLIP-seq
MIRT2583152	hsa-miR-3681	CLIP-seq
MIRT2583153	hsa-miR-384	CLIP-seq
MIRT2583154	hsa-miR-3922-3p	CLIP-seq
MIRT1195392	hsa-miR-3924	CLIP-seq
MIRT2583155	hsa-miR-3926	CLIP-seq
MIRT1195395	hsa-miR-4282	CLIP-seq
MIRT1195396	hsa-miR-4290	CLIP-seq
MIRT2056677	hsa-miR-4309	CLIP-seq
MIRT2056678	hsa-miR-4423-5p	CLIP-seq
MIRT2583156	hsa-miR-4490	CLIP-seq
MIRT1195397	hsa-miR-4528	CLIP-seq
MIRT2285135	hsa-miR-4652-3p	CLIP-seq
MIRT2056679	hsa-miR-4726-3p	CLIP-seq
MIRT2285136	hsa-miR-4778-5p	CLIP-seq
MIRT2583157	hsa-miR-483-3p	CLIP-seq
MIRT1195398	hsa-miR-513a-3p	CLIP-seq
MIRT1195399	hsa-miR-548c-3p	CLIP-seq
MIRT2583158	hsa-miR-548s	CLIP-seq
MIRT2583159	hsa-miR-582-5p	CLIP-seq
MIRT2583160	hsa-miR-584	CLIP-seq
MIRT1195400	hsa-miR-603	CLIP-seq
MIRT2583161	hsa-miR-606	CLIP-seq
MIRT2583162	hsa-miR-645	CLIP-seq
MIRT2583163	hsa-miR-657	CLIP-seq
MIRT2583164	hsa-miR-665	CLIP-seq
MIRT2583165	hsa-miR-761	CLIP-seq
MIRT2056681	hsa-miR-944	CLIP-seq
MIRT2455487	hsa-miR-1182	CLIP-seq
MIRT2056674	hsa-miR-122	CLIP-seq
MIRT1195386	hsa-miR-1238	CLIP-seq
MIRT2285132	hsa-miR-1267	CLIP-seq
MIRT2583145	hsa-miR-142-3p	CLIP-seq
MIRT2686634	hsa-miR-2115	CLIP-seq
MIRT2583146	hsa-miR-214	CLIP-seq
MIRT2686635	hsa-miR-218	CLIP-seq
MIRT2583147	hsa-miR-3126-3p	CLIP-seq
MIRT2583148	hsa-miR-3176	CLIP-seq
MIRT2056675	hsa-miR-3198	CLIP-seq
MIRT2583149	hsa-miR-323b-5p	CLIP-seq
MIRT2583150	hsa-miR-3619-5p	CLIP-seq
MIRT2583151	hsa-miR-3622a-5p	CLIP-seq
MIRT2056676	hsa-miR-3622b-5p	CLIP-seq
MIRT1195390	hsa-miR-3647-3p	CLIP-seq
MIRT1195391	hsa-miR-365	CLIP-seq
MIRT2583152	hsa-miR-3681	CLIP-seq
MIRT2583154	hsa-miR-3922-3p	CLIP-seq
MIRT1195392	hsa-miR-3924	CLIP-seq
MIRT2583155	hsa-miR-3926	CLIP-seq
MIRT1195395	hsa-miR-4282	CLIP-seq
MIRT1195396	hsa-miR-4290	CLIP-seq
MIRT2056677	hsa-miR-4309	CLIP-seq
MIRT2686636	hsa-miR-4328	CLIP-seq
MIRT2056678	hsa-miR-4423-5p	CLIP-seq
MIRT2583156	hsa-miR-4490	CLIP-seq
MIRT1195397	hsa-miR-4528	CLIP-seq
MIRT2285135	hsa-miR-4652-3p	CLIP-seq
MIRT2056679	hsa-miR-4726-3p	CLIP-seq
MIRT2285136	hsa-miR-4778-5p	CLIP-seq
MIRT2583157	hsa-miR-483-3p	CLIP-seq
MIRT2056680	hsa-miR-487a	CLIP-seq
MIRT1195398	hsa-miR-513a-3p	CLIP-seq
MIRT2686637	hsa-miR-516a-3p	CLIP-seq
MIRT1195399	hsa-miR-548c-3p	CLIP-seq
MIRT2583158	hsa-miR-548s	CLIP-seq
MIRT2583159	hsa-miR-582-5p	CLIP-seq
MIRT2583160	hsa-miR-584	CLIP-seq
MIRT1195400	hsa-miR-603	CLIP-seq
MIRT2583161	hsa-miR-606	CLIP-seq
MIRT2686638	hsa-miR-636	CLIP-seq
MIRT2583163	hsa-miR-657	CLIP-seq
MIRT2583164	hsa-miR-665	CLIP-seq
MIRT2583165	hsa-miR-761	CLIP-seq
MIRT2056681	hsa-miR-944	CLIP-seq

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	IDA	21296756
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003723	Function	RNA binding	IEA
GO:0003729	Function	MRNA binding	IDA	21296756
GO:0005515	Function	Protein binding	IPI	21296756, 23602568, 35271311
GO:0005634	Component	Nucleus	IDA	21296756
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006397	Process	MRNA processing	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0016607	Component	Nuclear speck	IDA	21296756
GO:0016607	Component	Nuclear speck	IEA
GO:0032502	Process	Developmental process	IMP	21296756
GO:1990904	Component	Ribonucleoprotein complex	IDA	21296756

MIM	HGNC	e!Ensembl
616173	25305	ENSG00000126653

Q9H0G5

Protein name

Nuclear speckle splicing regulatory protein 1 (Coiled-coil domain-containing protein 55) (Nuclear speckle-related protein 70) (NSrp70)

Protein function

RNA-binding protein that mediates pre-mRNA alternative splicing regulation.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09745	DUF2040	58 → 177	Coiled-coil domain-containing protein 55 (DUF2040)	Coiled-coil

Tissue specificity

TISSUE SPECIFICITY: Expressed in dendritic cells, T-cells, B-cells and natural killer cells. Expressed in secondary lymphoid organs such as spleen and mesenteric, axillary and brachial lymph nodes. {ECO:0000269|PubMed:21296756}.

Sequence

MAIPGRQYGLILPKKTQQLHPVLQKPSVFGNDSDDDDETSVSESLQREAAKKQAMKQTKL
EIQKALAEDATVYEYDSIYDEMQKKKEENNPKLLLGKDRKPKYIHNLLKAVEIRKKEQEK
RMEKKIQREREMEKGEFDDKEAFVTSAYKKKLQERAEEEEREKRAAALEACLDVTKQKDL
SGFYRHLLNQAVGEEEVPKCSFREARSGIKEEKSRGFSNEVSSKNRIPQEKCILQTDVKV
EENPDADSDFDAKSSADDEIEETRVNCRREKVIETPENDFKHHRSQNHSRSPSEERGHST
RHHTKGSRTSRGHEKREDQHQQKQSRDQENHYTDRDYRKERDSHRHREASHRDSHWKRHE
QEDKPRARDQRERSDRVWKREKDREKYSQREQERDRQQNDQNRPSEKGEKEEKSKAKEEH
MKVRKERYENNDKYRDREKREVGVQSSERNQDRKESSPNSRAKDKFLDQERSNKMRNMAK
DKERNQEKPSNSESSLGAKHRLTEEGQEKGKEQERPPEAVSKFAKRNNEETVMSARDRYL
ARQMARVNAKTYIEKEDD

Sequence length

558

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Microcephaly	Pathogenic	rs1485203990, rs2143011593	RCV001647271 RCV001647270	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities	Pathogenic	rs1485203990, rs2143011593, rs2143011578	RCV002275363 RCV002275362 RCV005252143	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Pathogenic	rs1485203990, rs2143011593	RCV001647271 RCV001647270	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe global developmental delay	Pathogenic	rs1485203990, rs2143011593	RCV001647271 RCV001647270	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spasticity	Pathogenic	rs1485203990, rs2143011593	RCV001647271 RCV001647270	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NSRP1-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (6)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute leukemia	Leukemia	BEFREE	25176346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	39667501	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	34385670	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	34385670	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	34385670	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	34385670	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

NSRP1 (nuclear speckle splicing regulatory protein 1)