Klhl17 kelch-like 17 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Klhl17provided by MGI
Official Full Name: kelch-like 17provided by MGI
Primary source: MGI:MGI:2678948
See related: Ensembl:ENSMUSG00002076083 AllianceGenome:MGI:2678948
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
Summary: Predicted to enable POZ domain binding activity; actin filament binding activity; and molecular adaptor activity. Predicted to be involved in actin cytoskeleton organization and brain development. Predicted to be located in neuronal cell body and postsynaptic density. Predicted to be active in actin cytoskeleton and dendrite cytoplasm. Orthologous to human KLHL17 (kelch like family member 17). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in ovary adult (RPKM 47.1), thymus adult (RPKM 36.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 E2; 4 88.63 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (156313501..156319314, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (156229044..156234857, 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?

KLHL17/Actinfilin, a brain-specific gene associated with infantile spasms and autism, regulates dendritic spine enlargement.
Title: KLHL17/Actinfilin, a brain-specific gene associated with infantile spasms and autism, regulates dendritic spine enlargement.

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Variation

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Alleles

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

Endonuclease-mediated (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables POZ domain binding	ISO Inferred from Sequence Orthology more info
enables actin binding	IEA Inferred from Electronic Annotation more info
enables actin filament binding	ISO Inferred from Sequence Orthology more info
enables molecular adaptor activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	ISO Inferred from Sequence Orthology more info
involved_in regulation protein catabolic process at postsynapse	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in actin cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in dendrite cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
is_active_in postsynapse	ISO Inferred from Sequence Orthology more info
located_in synapse	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: kelch-like protein 17

Names: actinfilin

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_198305.2 → NP_938047.1 kelch-like protein 17

See identical proteins and their annotated locations for NP_938047.1

Status: VALIDATED

Source sequence(s)

AY423764, CAAA01066806, CN666867

Consensus CDS

CCDS38999.1

UniProtKB/Swiss-Prot

Q6TDP3

UniProtKB/TrEMBL

B2RTE7

Related

ENSMUSP00000101194.4, ENSMUST00000105569.5

Conserved Domains (5) summary

smart00612
Location:577 → 621

Kelch; Kelch domain

PHA03098
Location:90 → 556

PHA03098; kelch-like protein; Provisional

sd00038
Location:377 → 420

Kelch; KELCH repeat [structural motif]

cd18246
Location:51 → 189

BTB_POZ_KLHL17_actinfilin; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 17 (KLHL17)

cl28903
Location:187 → 288

BACK; BACK (BTB and C-terminal Kelch) domain