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SNRPN (small nuclear ribonucleoprotein polypeptide N)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6638
Gene nameGene Name - the full gene name approved by the HGNC.
Small nuclear ribonucleoprotein polypeptide N
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SNRPN
SynonymsGene synonyms aliases
HCERN3, PWCR, RT-LI, SM-D, SMN, SNRNP-N, SNURF-SNRPN, sm-N
ChromosomeChromosome number
15
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q11.2
SummarySummary of gene provided in NCBI Entrez Gene.
This gene is located within the Prader-Willi Syndrome critical region on chromosome 15 and is imprinted and expressed from the paternal allele. It encodes a component of the small nuclear ribonucleoprotein complex, which functions in pre-mRNA processing a
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT029257 hsa-miR-26b-5p Microarray 19088304
MIRT1376284 hsa-miR-1273f CLIP-seq
MIRT1376285 hsa-miR-143 CLIP-seq
MIRT1376286 hsa-miR-144 CLIP-seq
MIRT1376287 hsa-miR-3134 CLIP-seq
Transcription factors
Transcription factor Regulation Reference
NRF1 Unknown 16116039
SP1 Unknown 16116039
YY1 Unknown 16116039
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IBA 21873635
GO:0000398 Process MRNA splicing, via spliceosome TAS
GO:0003723 Function RNA binding IEA
GO:0005515 Function Protein binding IPI 15105431, 28514442
GO:0005654 Component Nucleoplasm IDA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P63162
Protein name Small nuclear ribonucleoprotein-associated protein N (snRNP-N) (Sm protein D) (Sm-D) (Sm protein N) (Sm-N) (SmN) (Tissue-specific-splicing protein)
Protein function May be involved in tissue-specific alternative RNA processing events.
PDB 5MF9 , 8TBP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01423 LSM
7 82
LSM domain
Domain
Sequence
MTVGKSSKMLQHIDYRMRCILQDGRIFIGTFKAFDKHMNLILCDCDEFRKIKPKNAKQPE
REEKRVLGLVLLRGENLVSMTV
EGPPPKDTGIARVPLAGAAGGPGVGRAAGRGVPAGVPI
PQAPAGLAGPVRGVGGPSQQVMTPQGRGTVAAAAVAATASIAGAPTQYPPGRGTPPPPVG
RATPPPGIMAPPPGMRPPMGPPIGLPPARGTPIGMPPPGMRPPPPGIRGPPPPGMRPPRP
Sequence length 240
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    mRNA Splicing - Major Pathway
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Acromicric dysplasia Acromicric Dysplasia rs387906622, rs387906623, rs387906624, rs1131692052, rs387906626, rs587776863, rs1064797059, rs363806, rs1060501041, rs1555400049
Angelman syndrome Angelman syndrome due to imprinting defect in 15q11-q13 rs111033595, rs111033596, rs111033597, rs2147483647, rs28934904, rs267608434, rs28935468, rs61748396, rs398124440, rs587780565, rs587780566, rs587780567, rs587780568, rs587780569, rs587780570, rs587780571, rs587780572, rs587780573, rs587780574, rs587780575, rs587780576, rs587780577, rs587780578, rs587780579, rs587780580, rs76794400, rs587780581, rs587780582, rs587780583, rs587780584, rs587780585, rs63749748, rs61754453, rs267608546, rs587781190, rs587781191, rs587781192, rs587781193, rs587781194, rs587781195, rs587781196, rs587781197, rs587781198, rs587781199, rs587781200, rs587781201, rs587781202, rs587781203, rs587781204, rs587781205, rs587781206, rs587781207, rs587781208, rs587781209, rs587781210, rs587781211, rs587781212, rs587781213, rs587781214, rs587781215, rs587781216, rs587781217, rs587781218, rs587781219, rs587781220, rs587781221, rs587781222, rs587781223, rs587781224, rs587781225, rs1555379745, rs587781226, rs587781227, rs1555379684, rs587781228, rs587781229, rs587781231, rs587781232, rs587781233, rs587781234, rs587781235, rs587781236, rs587781237, rs587781238, rs587781239, rs587781240, rs587781241, rs587781242, rs587781243, rs587781244, rs587783097, rs587784526, rs587784520, rs587782919, rs587784519, rs587784518, rs587784516, rs587784515, rs587784514, rs587784513, rs587784512, rs587784509, rs587784508, rs587784534, rs587784533, rs587784532, rs587784531, rs587784530, rs587784529, rs1557135251, rs863225070, rs863225068, rs756564767, rs797046088, rs1555379800, rs587781230, rs797046087, rs797046086, rs797046085, rs797046084, rs863224940, rs864309508, rs864309506, rs886039516, rs886041603, rs1057519062, rs1064792950, rs1064795001, rs1064795012, rs1064793307, rs1555399937, rs1490279918, rs1555380809, rs1555391286, rs1555400239, rs1555393242, rs1566954070, rs1566959617, rs1566961418, rs1595375255, rs1595375630, rs1595804239, rs1207660411, rs1595362860, rs1595572384, rs1595591164, rs997044541, rs2074508602, rs2080231132, rs2080238010, rs1891450501
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs120074176, rs786205019
Autism Autistic Disorder rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
Unknown
Disease name Disease term dbSNP ID References
Acromicria Acromicria
Clinodactyly Clinodactyly of fingers, Clinodactyly
Dolichocephaly Long narrow head
Dwarfism Dwarfism

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