Zfyve27 zinc finger, FYVE domain containing 27 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Zfyve27provided by MGI
Official Full Name: zinc finger, FYVE domain containing 27provided by MGI
Primary source: MGI:MGI:1919602
See related: Ensembl:ENSMUSG00000018820 AllianceGenome:MGI:1919602
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: 2210011N02Rik; 9530077C24Rik
Summary: Predicted to enable identical protein binding activity and protein self-association. Involved in positive regulation of axon extension and vesicle-mediated transport. Located in dendrite; endoplasmic reticulum tubular network; and growth cone membrane. Is integral component of membrane. Is expressed in ganglia; genitourinary system; sensory organ; and vibrissa. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 33. Orthologous to human ZFYVE27 (zinc finger FYVE-type containing 27). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in CNS E18 (RPKM 14.2), whole brain E14.5 (RPKM 12.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 C3; 19 35.87 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (42159006..42183032)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (42170567..42194593)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Protrudin-deficient mice manifest depression-like behavior with abnormalities in activity, attention, and cued fear-conditioning.
Title: Protrudin-deficient mice manifest depression-like behavior with abnormalities in activity, attention, and cued fear-conditioning.
Protrudin and PDZD8 contribute to neuronal integrity by promoting lipid extraction required for endosome maturation.
Title: Protrudin and PDZD8 contribute to neuronal integrity by promoting lipid extraction required for endosome maturation.
Protrudin modulates seizure activity through GABAA receptor regulation.
Title: Protrudin modulates seizure activity through GABA(A) receptor regulation.
Results suggest that SRRM4 controls neurite outgrowth through regulation of alternative splicing of protrudin transcripts.
Title: SRRM4-dependent neuron-specific alternative splicing of protrudin transcripts regulates neurite outgrowth.
We found that Zfyve27, which encodes protrudin, identified a subpopulation of papillary label-retaining cells (pLRCs). With Zfyve27-CreERT2 transgenic and reporter mice we generated bitransgenic animals and performed cell-lineage analysis. Post tamoxifen, Zfyve27-CreERT2 marked cells preferentially located in the upper part of the papilla.
Title: A Subpopulation of Label-Retaining Cells of the Kidney Papilla Regenerates Injured Kidney Medullary Tubules.
Identification and characterization of protrudin-L, neuron-specific isoform of protrudin that promotes axonal elongation and contributes to the establishment of neuronal polarity.
Title: Identification and characterization of a neuron-specific isoform of protrudin.
Phosphoinositides differentially regulate protrudin localization through the FYVE domain [protrudin]
Title: Phosphoinositides differentially regulate protrudin localization through the FYVE domain.
protrudin contributes to the regulation of ER morphology and function, and that its deregulation by mutation is a causative defect in HSP.
Title: Protrudin regulates endoplasmic reticulum morphology and function associated with the pathogenesis of hereditary spastic paraplegia.
Protrudin and KIF5 interact in mouse brain.Protrudin-KIF5 complex contributes to the vesicular transport in neurons.
Title: Protrudin serves as an adaptor molecule that connects KIF5 and its cargoes in vesicular transport during process formation.
protrudin regulates Rab11-dependent membrane recycling to promote the directional membrane trafficking required for neurite formation [protrudin]
Title: Protrudin induces neurite formation by directional membrane trafficking.

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Variation

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Alleles

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

Targeted (3) 1 citation
Endonuclease-mediated (1)

General gene information

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Markers

AI593546 (e-PCR)
- UniSTS:166151

AI426636 (e-PCR)
- UniSTS:160837

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in endoplasmic reticulum tubular network formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in endoplasmic reticulum tubular network formation	ISO Inferred from Sequence Orthology more info
involved_in neuron projection development	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in neurotrophin TRK receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in neurotrophin TRK receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of axon extension	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of axon extension	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in vesicle-mediated transport	IDA Inferred from Direct Assay more info	PubMed
involved_in vesicle-mediated transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in axon	IDA Inferred from Direct Assay more info	PubMed
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
is_active_in endoplasmic reticulum tubular network	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum tubular network	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum tubular network	ISO Inferred from Sequence Orthology more info
located_in endosome	IEA Inferred from Electronic Annotation more info
is_active_in growth cone membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in growth cone membrane	IDA Inferred from Direct Assay more info	PubMed
located_in growth cone membrane	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in recycling endosome membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: protrudin

Names: zinc finger FYVE domain-containing protein 27

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_001164531.1 → NP_001158003.1 protrudin isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and lacks an exon in the coding region compared to variant 1. The encoded protein (isoform 2) is shorter than isoform 1.

Source sequence(s)

AK159065, BC042595, CK333536, CK781433

Consensus CDS

CCDS50440.1

UniProtKB/Swiss-Prot

Q3TXX3

Related

ENSMUSP00000097042.5, ENSMUST00000099443.11

Conserved Domains (1) summary

cd15723
Location:346 → 406

FYVE_protrudin; FYVE-related domain found in protrudin and similar proteins
NM_177319.3 → NP_796293.2 protrudin isoform 1

See identical proteins and their annotated locations for NP_796293.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

BC042595, CK781433

Consensus CDS

CCDS29825.2

UniProtKB/Swiss-Prot

Q3TXX3, Q8CFP8

Related

ENSMUSP00000130684.2, ENSMUST00000169536.8

Conserved Domains (1) summary

cd15723
Location:353 → 413

FYVE_protrudin; FYVE-related domain found in protrudin and similar proteins