Pithd1 PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pithd1provided by MGI
Official Full Name: PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1provided by MGI
Primary source: MGI:MGI:1913443
See related: Ensembl:ENSMUSG00000028669 AllianceGenome:MGI:1913443
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: Trp26; 1110049F12Rik
Summary: Involved in positive regulation of megakaryocyte differentiation. Acts upstream of or within several processes, including penetration of cumulus oophorus; penetration of zona pellucida; and regulation of proteasomal protein catabolic process. Located in sperm cytoplasmic droplet. Is expressed in several structures, including central nervous system; ganglia; nose; respiratory system; and tooth. Orthologous to human PITHD1 (PITH domain containing 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in thymus adult (RPKM 52.8), colon adult (RPKM 47.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 D3; 4 68.34 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (135702913..135714555, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (135975602..135987244, complement)

Chromosome 4 - NC_000070.7 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
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?

PITHD1 is a proteasome-interacting protein essential for male fertilization.
Title: PITHD1 is a proteasome-interacting protein essential for male fertilization.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (2) 1 citation
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH125775 (e-PCR)
- UniSTS:162523

RH124681 (e-PCR)
- UniSTS:161503

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within penetration of cumulus oophorus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within penetration of zona pellucida	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of megakaryocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of megakaryocyte differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of proteasomal protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sperm motility	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spermatid development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in sperm cytoplasmic droplet	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: PITH domain-containing protein 1

Names: AD039; thioredoxin family Trp26

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.