Shtn1 shootin 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Shtn1provided by MGI
Official Full Name: shootin 1provided by MGI
Primary source: MGI:MGI:1918903
See related: Ensembl:ENSMUSG00000041362 AllianceGenome:MGI:1918903
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: Shootin1; mKIAA1598; 4930506M07Rik
Summary: Enables kinesin binding activity. Involved in several processes, including endoplasmic reticulum polarization; positive regulation of neuron migration; and regulation of establishment of cell polarity. Acts upstream of or within regulation of neuron migration. Located in several cellular components, including axonal growth cone; perikaryon; and perinuclear region of cytoplasm. Part of microtubule associated complex. Is expressed in several structures, including alimentary system; lower urinary tract; nervous system; respiratory system; and sensory organ. Orthologous to human SHTN1 (shootin 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in CNS E18 (RPKM 31.8), CNS E14 (RPKM 14.5) and 9 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 D2- D3; 19 54.56 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (58961790..59064536, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (58973358..59076124, complement)

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?

Dephosphorylation of neural wiring protein shootin1 by PP1 phosphatase regulates netrin-1-induced axon guidance.
Title: Dephosphorylation of neural wiring protein shootin1 by PP1 phosphatase regulates netrin-1-induced axon guidance.
Loss of Shootin1 Causes Dysgenesis of the Olfactory Bulb and Abnormal Positioning of Olfactory Neurons.
Title: Shootin1b Mediates a Mechanical Clutch to Produce Force for Neuronal Migration.
we identified a new regulatory role for the polarity protein Shootin1. Shootin1 activates the Notch pathway by opposing activities on 2 regulatory E3 ubiquitin ligases
Title: Notch Activation by Shootin1 Opposing Activities on 2 Ubiquitin Ligases.
these results point to a role of CDKL5 in the early steps of neuronal differentiation that can be explained, at least in part, by its association with shootin1.
Title: CDKL5 and Shootin1 Interact and Concur in Regulating Neuronal Polarization.
our data demonstrate the importance of the Shootin1/KIF20B interaction to the dynamic process of pyramidal neuronal polarization and migration.
Title: Shootin1 acts in concert with KIF20B to promote polarization of migrating neurons.

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Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

30.MMHAP5FLB6.seq (e-PCR)
- UniSTS:123911

NoName (e-PCR)
- UniSTS:237985

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin filament binding	ISO Inferred from Sequence Orthology more info
enables cell adhesion molecule binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables kinesin binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Cdc42 protein signal transduction	ISO Inferred from Sequence Orthology more info
involved_in Ras protein signal transduction	ISO Inferred from Sequence Orthology more info
involved_in actin filament bundle retrograde transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within axonogenesis	ISO Inferred from Sequence Orthology more info
involved_in axonogenesis	ISO Inferred from Sequence Orthology more info
involved_in cytoplasmic actin-based contraction involved in cell motility	ISO Inferred from Sequence Orthology more info
involved_in endoplasmic reticulum polarization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within membrane depolarization	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
involved_in netrin-activated signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in neuron projection morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron projection morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of axon extension	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of neuron migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of neuron migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neuron migration	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of establishment of cell polarity	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of establishment of cell polarity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of neuron migration	IGI Inferred from Genetic Interaction more info	PubMed
involved_in substrate-dependent cell migration, cell extension	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in axon	IDA Inferred from Direct Assay more info	PubMed
is_active_in axonal growth cone	IBA Inferred from Biological aspect of Ancestor more info
located_in axonal growth cone	IDA Inferred from Direct Assay more info	PubMed
located_in axonal growth cone	ISO Inferred from Sequence Orthology more info
is_active_in cell leading edge	IBA Inferred from Biological aspect of Ancestor more info
located_in cell leading edge	IDA Inferred from Direct Assay more info	PubMed
located_in cell projection	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in filopodium	ISO Inferred from Sequence Orthology more info
located_in growth cone	IDA Inferred from Direct Assay more info	PubMed
located_in growth cone	ISO Inferred from Sequence Orthology more info	PubMed
located_in lamellipodium	ISO Inferred from Sequence Orthology more info
located_in microtubule	ISO Inferred from Sequence Orthology more info	PubMed
part_of microtubule associated complex	IDA Inferred from Direct Assay more info	PubMed
located_in microtubule cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in perikaryon	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: shootin-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_001114312.1 → NP_001107784.1 shootin-1 isoform 1

See identical proteins and their annotated locations for NP_001107784.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1, also known as shootin 1b).

Source sequence(s)

AC102604, AC124459

Consensus CDS

CCDS50481.1

UniProtKB/Swiss-Prot

Q5DTW5, Q8C4F6, Q8K2Q9

Related

ENSMUSP00000041378.8, ENSMUST00000047511.15

Conserved Domains (3) summary

pfam06156
Location:141 → 189

DUF972; Protein of unknown function (DUF972)

pfam10267
Location:268 → 350

Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

pfam10493
Location:215 → 306

Rod_C; Rough deal protein C-terminal region
NM_175172.4 → NP_780381.1 shootin-1 isoform 2

See identical proteins and their annotated locations for NP_780381.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 3' UTR and has multiple coding region differences, compared to variant 1, one of which results in a frameshift. The resulting isoform (2, also known as shootin 1a) is shorter with a distinct C-terminus compared to isoform 1.

Source sequence(s)

AK082304, DV657531

Consensus CDS

CCDS50480.1

UniProtKB/Swiss-Prot

Q8K2Q9

Related

ENSMUSP00000126227.2, ENSMUST00000163821.3

Conserved Domains (2) summary

pfam10267
Location:268 → 350

Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

pfam10493
Location:215 → 306

Rod_C; Rough deal protein C-terminal region