Plekha3 pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Plekha3provided by MGI
Official Full Name: pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3provided by MGI
Primary source: MGI:MGI:1932515
See related: Ensembl:ENSMUSG00000002733 AllianceGenome:MGI:1932515
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: FAPP1
Summary: Predicted to enable ceramide 1-phosphate transfer activity; identical protein binding activity; and phospholipid binding activity. Predicted to be involved in ER to Golgi ceramide transport and intermembrane lipid transfer. Predicted to be located in Golgi apparatus. Predicted to be active in cytosol. Is expressed in several structures, including alimentary system; brain; genitourinary system; orbito-sphenoid; and vascular system. Orthologous to human PLEKHA3 (pleckstrin homology domain containing A3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in genital fat pad adult (RPKM 43.1), bladder adult (RPKM 11.9) and 26 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 C3; 2 45.1 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (76505436..76527679)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (76675305..76697335)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

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Variation

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Alleles

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

Targeted (2)
Endonuclease-mediated (1)

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables lipid binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol-4-phosphate binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in endosome organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in receptor recycling	IBA Inferred from Biological aspect of Ancestor more info
involved_in retrograde transport, endosome to Golgi	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
is_active_in early endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in recycling endosome	IBA Inferred from Biological aspect of Ancestor more info
is_active_in trans-Golgi network	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: pleckstrin homology domain-containing family A member 3

Names: FAPP-1; PH domain-containing family A member 3; phosphatidylinositol-four-phosphate adapter protein 1; phosphoinositol 4-phosphate adapter protein 1

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_031256.3 → NP_112546.1 pleckstrin homology domain-containing family A member 3

See identical proteins and their annotated locations for NP_112546.1

Status: VALIDATED

Source sequence(s)

AF286163, AL928789, BY730332

Consensus CDS

CCDS16162.1

UniProtKB/Swiss-Prot

Q9ERS4

Related

ENSMUSP00000107551.2, ENSMUST00000111920.2

Conserved Domains (1) summary

cd01247
Location:1 → 100

PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

76505436..76527679

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006500446.5 → XP_006500509.1 pleckstrin homology domain-containing family A member 3 isoform X1

See identical proteins and their annotated locations for XP_006500509.1

UniProtKB/Swiss-Prot

Q9ERS4

Conserved Domains (1) summary

cd01247
Location:1 → 100

PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain