Prpf6 pre-mRNA splicing factor 6 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Prpf6provided by MGI
Official Full Name: pre-mRNA splicing factor 6provided by MGI
Primary source: MGI:MGI:1922946
See related: Ensembl:ENSMUSG00000002455 AllianceGenome:MGI:1922946
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ANT-1; U5-102K; 1190003A07Rik; 2610031L17Rik
Summary: Predicted to enable several functions, including identical protein binding activity; nuclear androgen receptor binding activity; and transcription coactivator activity. Predicted to be involved in spliceosomal tri-snRNP complex assembly. Predicted to act upstream of or within RNA localization and positive regulation of transcription by RNA polymerase II. Predicted to be located in nuclear speck. Predicted to be part of nucleus. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; hemolymphoid system; and integumental system. Human ortholog(s) of this gene implicated in retinitis pigmentosa 60. Orthologous to human PRPF6 (pre-mRNA processing factor 6). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 22.6), placenta adult (RPKM 18.6) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 H4; 2 103.67 cM

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (181243112..181297454)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (181601319..181655661)

Chromosome 2 - NC_000068.8 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: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The existence of these functional domains may further support the idea that ANT-1 can function as an AR-AF-1-specific coactivator while mediating a transcription-splicing coupling.
Title: Identification of the functional domains of ANT-1, a novel coactivator of the androgen receptor.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Prpf6 (e-PCR), detects polymorphism
- UniSTS:478980

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables RNA binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables nuclear androgen receptor binding	ISO Inferred from Sequence Orthology more info	PubMed
enables protein-macromolecule adaptor activity	ISO Inferred from Sequence Orthology more info
enables protein-macromolecule adaptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables ribonucleoprotein complex binding	IEA Inferred from Electronic Annotation more info
enables ribonucleoprotein complex binding	ISO Inferred from Sequence Orthology more info
enables transcription coactivator activity	ISO Inferred from Sequence Orthology more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within RNA localization	ISO Inferred from Sequence Orthology more info
involved_in mRNA splicing, via spliceosome	IBA Inferred from Biological aspect of Ancestor more info
involved_in mRNA splicing, via spliceosome	ISO Inferred from Sequence Orthology more info
involved_in mRNA splicing, via spliceosome	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info	PubMed
involved_in spliceosomal tri-snRNP complex assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in spliceosomal tri-snRNP complex assembly	ISO Inferred from Sequence Orthology more info
involved_in spliceosomal tri-snRNP complex assembly	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of U2-type precatalytic spliceosome	ISO Inferred from Sequence Orthology more info
part_of U2-type precatalytic spliceosome	ISS Inferred from Sequence or Structural Similarity more info
part_of U4/U6 x U5 tri-snRNP complex	IBA Inferred from Biological aspect of Ancestor more info
part_of U4/U6 x U5 tri-snRNP complex	IEA Inferred from Electronic Annotation more info
part_of U4/U6 x U5 tri-snRNP complex	ISO Inferred from Sequence Orthology more info
part_of U5 snRNP	IEA Inferred from Electronic Annotation more info
part_of U5 snRNP	ISO Inferred from Sequence Orthology more info
part_of catalytic step 2 spliceosome	IBA Inferred from Biological aspect of Ancestor more info
part_of catalytic step 2 spliceosome	IEA Inferred from Electronic Annotation more info
part_of catalytic step 2 spliceosome	ISO Inferred from Sequence Orthology more info
located_in nuclear speck	ISO Inferred from Sequence Orthology more info
located_in nuclear speck	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: pre-mRNA-processing factor 6

Names: PRP6 homolog; PRP6 pre-mRNA splicing factor 6 homolog; U5 snRNP-associated 102 kDa protein; U5-102 kDa protein

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_133701.2 → NP_598462.1 pre-mRNA-processing factor 6

See identical proteins and their annotated locations for NP_598462.1

Status: VALIDATED

Source sequence(s)

AK081998, BY735790, CJ228927

Consensus CDS

CCDS38381.1

UniProtKB/Swiss-Prot

Q3ULJ7, Q542P0, Q8CIK9, Q8R3M8, Q91YR7, Q99JN1, Q9CSZ0

Related

ENSMUSP00000002529.7, ENSMUST00000002529.7

Conserved Domains (6) summary

smart00386
Location:444 → 476

HAT; HAT (Half-A-TPR) repeats

sd00006
Location:708 → 738

TPR; TPR repeat [structural motif]

pfam06424
Location:13 → 169

PRP1_N; PRP1 splicing factor, N-terminal

pfam13414
Location:709 → 774

TPR_11; TPR repeat

pfam13428
Location:404 → 443

TPR_14; Tetratricopeptide repeat

pfam14559
Location:621 → 673

TPR_19; Tetratricopeptide repeat