Klhl1 kelch-like 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Klhl1provided by MGI
Official Full Name: kelch-like 1provided by MGI
Primary source: MGI:MGI:2136335
See related: Ensembl:ENSMUSG00000022076 AllianceGenome:MGI:2136335
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: mKIAA1490
Summary: Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Acts upstream of or within adult walking behavior; cerebellar Purkinje cell layer development; and dendrite development. Located in dendrite and neuronal cell body. Is expressed in brain; extrinsic ocular muscle; and ventral grey horn. Orthologous to human KLHL1 (kelch like family member 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in CNS E18 (RPKM 3.1), whole brain E14.5 (RPKM 2.5) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 E2.1; 14 46.92 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (96342695..96756525, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (96105265..96519034, complement)

Chromosome 14 - NC_000080.7 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?

KLHL1 requires actin-polymerization to increase T-Type Calcium Channel alpha(1H) currents
Title: Kelch-like 1 protein upregulates T-type currents by an actin-F dependent increase in α(1H) channels via the recycling endosome.
KLHL1 interacts with Cav3.2 and modulates T-type calcium currents by increasing current deactivation kinetics and current density and calcium influx.
Title: T-type current modulation by the actin-binding protein Kelch-like 1.
Dlk1 is required to prevent premature expression of Dat in meso-diencephalic dopamine neuronal precursors as part of the multifaceted process of neuronal differentiation driven by Nurr1 and Pitx3.
Title: Identification of Dlk1, Ptpru and Klhl1 as novel Nurr1 target genes in meso-diencephalic dopamine neurons.
KLHL! was widely distributed throughout the mouse brain. In the mouse testis, Sca8 transcript colocalized with Klhl1 mRNA in the spermatogenic cells.
Title: SCA8 mRNA expression suggests an antisense regulation of KLHL1 and correlates to SCA8 pathology.
MRP2/KLHL1 has a role, through its interaction with actin, in the process elongation of oligodendrocytes
Title: Process elongation of oligodendrocytes is promoted by the Kelch-related protein MRP2/KLHL1.

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Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S3690 (e-PCR)
- UniSTS:474268

D14Mit71 (e-PCR), detects polymorphism
- UniSTS:127428

KLHL1 (e-PCR)
- UniSTS:505338

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin binding	IEA Inferred from Electronic Annotation more info
enables ubiquitin-like ligase-substrate adaptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within adult walking behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cerebellar Purkinje cell layer development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dendrite development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within dendrite development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of Cul3-RING ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor 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 cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
is_active_in dendrite	IBA Inferred from Biological aspect of Ancestor more info
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
is_active_in neuronal cell body	IBA Inferred from Biological aspect of Ancestor more info
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: kelch-like protein 1

Names: kelch-l like

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_053105.3 → NP_444335.2 kelch-like protein 1

See identical proteins and their annotated locations for NP_444335.2

Status: VALIDATED

Source sequence(s)

AC131920, AC131989, AC154580, CT025590

Consensus CDS

CCDS27308.1

UniProtKB/Swiss-Prot

Q505E9, Q9JI74

UniProtKB/TrEMBL

Q8CCY1

Related

ENSMUSP00000022666.8, ENSMUST00000022666.9

Conserved Domains (6) summary

smart00612
Location:704 → 748

Kelch; Kelch domain

PHA03098
Location:209 → 731

PHA03098; kelch-like protein; Provisional

sd00038
Location:499 → 542

Kelch; KELCH repeat [structural motif]

pfam00651
Location:205 → 308

BTB; BTB/POZ domain

pfam01344
Location:498 → 543

Kelch_1; Kelch motif

pfam07707
Location:317 → 416

BACK; BTB And C-terminal Kelch