Klhl7 kelch-like 7 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Klhl7provided by MGI
Official Full Name: kelch-like 7provided by MGI
Primary source: MGI:MGI:1196453
See related: Ensembl:ENSMUSG00000028986 AllianceGenome:MGI:1196453
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: SBBI26; D5Ertd363e; 2700038B03Rik
Summary: Predicted to enable protein homodimerization activity and ubiquitin-like ligase-substrate adaptor activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process and protein ubiquitination. Predicted to be located in several cellular components, including cytosol; nuclear lumen; and perinuclear region of cytoplasm. Predicted to be part of Cul3-RING ubiquitin ligase complex. Predicted to be active in cytoplasm. Is expressed in nervous system and neural retina. Human ortholog(s) of this gene implicated in cold-induced sweating syndrome 3 and retinitis pigmentosa 42. Orthologous to human KLHL7 (kelch like family member 7). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in CNS E18 (RPKM 23.6), CNS E14 (RPKM 20.3) and 16 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 A3; 5 10.67 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (24305563..24368363)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (24100565..24163369)

Chromosome 5 - NC_000071.7 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?

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Variation

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Alleles

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

Endonuclease-mediated (1)
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH127059 (e-PCR)
- UniSTS:167430

C81340 (e-PCR)
- UniSTS:207761

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables ubiquitin-like ligase-substrate adaptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in protein ubiquitination	ISO Inferred from Sequence Orthology more info
involved_in protein ubiquitination	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of Cul3-RING ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Cul3-RING ubiquitin ligase complex	ISO Inferred from Sequence Orthology more info
part_of Cul3-RING ubiquitin ligase complex	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: kelch-like protein 7

Names: BTB/POZ domain containing protein

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_001161800.1 → NP_001155272.1 kelch-like protein 7 isoform 2

See identical proteins and their annotated locations for NP_001155272.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an exon in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AC118010

Consensus CDS

CCDS51432.1

UniProtKB/TrEMBL

A0A0G2JF30, G3UW75

Related

ENSMUSP00000129461.2, ENSMUST00000163409.5

Conserved Domains (6) summary

smart00612
Location:383 → 430

Kelch; Kelch domain

smart00225
Location:45 → 140

BTB; Broad-Complex, Tramtrack and Bric a brac

sd00038
Location:326 → 368

Kelch; KELCH repeat [structural motif]

pfam00651
Location:34 → 138

BTB; BTB/POZ domain

pfam01344
Location:420 → 462

Kelch_1; Kelch motif

pfam07707
Location:146 → 248

BACK; BTB And C-terminal Kelch
NM_026448.3 → NP_080724.2 kelch-like protein 7 isoform 1

See identical proteins and their annotated locations for NP_080724.2

Status: VALIDATED

Description

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

Source sequence(s)

AK083358, BB841624, BQ176920

Consensus CDS

CCDS19114.1

UniProtKB/Swiss-Prot

Q8BUL5, Q9CZP4

Related

ENSMUSP00000030841.6, ENSMUST00000030841.10

Conserved Domains (5) summary

PHA03098
Location:37 → 577

PHA03098; kelch-like protein; Provisional

sd00038
Location:372 → 416

Kelch; KELCH repeat [structural motif]

cd18237
Location:23 → 148

BTB_POZ_KLHL7; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 7 (KLHL7)

cd18447
Location:140 → 237

BACK_KLHL7; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 7 (KLHL7)

pfam01344
Location:371 → 416

Kelch_1; Kelch motif

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_000071.7 Reference GRCm39 C57BL/6J

Range

24305563..24368363

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006535753.5 → XP_006535816.1 kelch-like protein 7 isoform X1

Conserved Domains (4) summary

PHA03098
Location:5 → 506

PHA03098; kelch-like protein; Provisional

sd00038
Location:301 → 345

Kelch; KELCH repeat [structural motif]

cd18447
Location:69 → 166

BACK_KLHL7; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 7 (KLHL7)

pfam01344
Location:300 → 345

Kelch_1; Kelch motif