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KLHL7 kelch like family member 7 [ Homo sapiens (human) ]

Gene ID: 55975, updated on 5-Mar-2024

Summary

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Official Symbol
KLHL7provided by HGNC
Official Full Name
kelch like family member 7provided by HGNC
Primary source
HGNC:HGNC:15646
See related
Ensembl:ENSG00000122550 MIM:611119; AllianceGenome:HGNC:15646
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CISS3; KLHL6; SBBI26; PERCHING
Summary
This gene encodes a BTB-Kelch-related protein. The encoded protein may be involved in protein degradation. Mutations in this gene have been associated with retinitis pigmentosa 42. [provided by RefSeq, Feb 2010]
Expression
Broad expression in heart (RPKM 18.6), testis (RPKM 12.2) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
7p15.3
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (23105785..23177914)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (23242311..23314438)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (23145404..23217533)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375186 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:23144592-23145578 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:23145579-23146565 Neighboring gene KLHL7 divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:23153733-23154678 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:23155468-23156110 Neighboring gene AK3 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25719 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25720 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:23232880-23233451 Neighboring gene nucleoporin 42 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25721 Neighboring gene uncharacterized LOC101927890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25722

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A novel PTC mutation in the BTB domain of KLHL7 gene in two patients with Bohring-Opitz syndrome-like features. Cheraghi S, et al. Eur J Med Genet, 2020 Apr. PMID 31953236
  2. Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa. Oh JK, et al. Orphanet J Rare Dis, 2019 Dec 19. PMID 31856884, Free PMC Article
  3. Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases. Jeffries L, et al. Eur J Med Genet, 2019 Sep. PMID 30300710
  4. Clinical and biological roles of Kelch-like family member 7 in breast cancer: a marker of poor prognosis. Kurozumi S, et al. Breast Cancer Res Treat, 2018 Aug. PMID 29633055
  5. Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype. Bruel AL, et al. J Med Genet, 2017 Dec. PMID 29074562

See all (42) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey.
    Title: Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey.
  2. A novel PTC mutation in the BTB domain of KLHL7 gene in two patients with Bohring-Opitz syndrome-like features.
    Title: A novel PTC mutation in the BTB domain of KLHL7 gene in two patients with Bohring-Opitz syndrome-like features.
  3. Study found novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa
    Title: Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa.
  4. A novel nonsense mutation in KLHL7 was identified in two siblings with multiple dysmorphic features and developmental delay.
    Title: Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases.
  5. KLHL7 appears to play an important role in BC progression. High KLHL7 protein expression identified a subgroup of BC with aggressive behaviour and provided independent prognostic information.
    Title: Clinical and biological roles of Kelch-like family member 7 in breast cancer: a marker of poor prognosis.
  6. We have expanded the clinical spectrum of KLHL7 autosomal recessive variants by describing a syndrome with features overlapping CS/CISS1 and BOS.
    Title: Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype.
  7. KLHL7 is a novel regulator of the nucleolus associated with TUT1 ubiquitination, and pathogenic KLHL7 mutants may provide valuable information to elucidate a mechanism of retinitis pigmentosa etiology.
    Title: KLHL7 promotes TUT1 ubiquitination associated with nucleolar integrity: Implications for retinitis pigmentosa.
  8. data further support the pathogenic role of KLHL7 mutations in a CS/CISS1-like phenotype--but they do not explain all their clinical manifestations and highlight the high phenotypic heterogeneity associated with mutations in KLHL7
    Title: Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.
  9. The phenotypes are similar among patients with 3 types of KLHL7 mutations (c.458C>T, c.449G>A, and c.457G>A).
    Title: Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7.
  10. KLHL7 forms a dimer, assembles with Cul3 through its BTB and BACK domains, and exerts E3 activity.
    Title: Ubiquitin ligase activity of Cul3-KLHL7 protein is attenuated by autosomal dominant retinitis pigmentosa causative mutation.
Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
PERCHING syndrome
MedGen: C4310742 OMIM: 617055 GeneReviews: Not available
Compare labs
Retinitis pigmentosa 42
MedGen: C2751986 OMIM: 612943 GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of kelch-like 7 (Drosophila) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in protein ubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of Cul3-RING ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in nucleolus IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
kelch-like protein 7
Names
kelch-like 6
kelch-like 7
kelch/BTB

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.

Genomic

  1. NG_016983.3 RefSeqGene

    Range
    5002..77131
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001031710.3 → NP_001026880.2  kelch-like protein 7 isoform 1

    See identical proteins and their annotated locations for NP_001026880.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC005082, AK056390, AK290479, BC039585, DC370850
    Consensus CDS
    CCDS34609.1
    UniProtKB/Swiss-Prot
    A4D144, B7Z5I9, G5E9G3, Q7Z765, Q8IXQ5, Q96MV2, Q9BQF8, Q9UDQ9
    UniProtKB/TrEMBL
    A8K364
    Related
    ENSP00000343273.4, ENST00000339077.10
    Conserved Domains (4) summary
    PHA03098
    Location:37 → 555
    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)

  2. NM_001172428.2 → NP_001165899.1  kelch-like protein 7 isoform 3

    See identical proteins and their annotated locations for NP_001165899.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (3) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AA432360, AF111113, DC370850
    Consensus CDS
    CCDS55095.1
    UniProtKB/Swiss-Prot
    Q8IXQ5
    Related
    ENSP00000323270.5, ENST00000322275.9
    Conserved Domains (1) summary
    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)

  3. NM_018846.5 → NP_061334.4  kelch-like protein 7 isoform 2

    See identical proteins and their annotated locations for NP_061334.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC005082, AK299006, BC039585, BG704835
    Consensus CDS
    CCDS5378.2
    UniProtKB/TrEMBL
    Q8IWW9
    Related
    ENSP00000386263.1, ENST00000409689.5
    Conserved Domains (4) summary
    PHA03098
    Location:6 → 507
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:324 → 368
    Kelch; KELCH repeat [structural motif]
    cd18447
    Location:92 → 189
    BACK_KLHL7; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 7 (KLHL7)
    cl38908
    Location:1 → 100
    BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily

RNA

  1. NR_033328.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC005082, AK056390, AK297595, BC039585

  2. NR_033329.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) has multiple differences, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA432360, BC009555, DC370850

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    23105785..23177914
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715757.5 → XP_006715820.1  kelch-like protein 7 isoform X1

    Conserved Domains (3) summary
    smart00225
    Location:45 → 140
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00651
    Location:34 → 138
    BTB; BTB/POZ domain
    pfam07707
    Location:160 → 261
    BACK; BTB And C-terminal Kelch

  2. XM_017012440.3 → XP_016867929.1  kelch-like protein 7 isoform X2

  3. XM_047420615.1 → XP_047276571.1  kelch-like protein 7 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    23242311..23314438
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054358649.1 → XP_054214624.1  kelch-like protein 7 isoform X1

  2. XM_054358650.1 → XP_054214625.1  kelch-like protein 7 isoform X2

  3. XM_054358651.1 → XP_054214626.1  kelch-like protein 7 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IXQ5.2 GenPept UniProtKB/Swiss-Prot:Q8IXQ5

Gene LinkOut

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