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

Gene ID: 55975, updated on 27-Dec-2018

Summary

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
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
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

Genomic context

See KLHL7 in Genome Data Viewer
Location:
7p15.3
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (23105734..23175421)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (23145353..23215040)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375186 Neighboring gene KLHL7 divergent transcript Neighboring gene adenylate kinase 3 pseudogene 3 Neighboring gene nucleoporin like 2 Neighboring gene uncharacterized LOC101927890

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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_016983.2 RefSeqGene

    Range
    5001..74688
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001031710.3NP_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
    Q8IXQ5
    UniProtKB/TrEMBL
    A8K364
    Related
    ENSP00000343273.4, ENST00000339077.9
    Conserved Domains (2) summary
    sd00038
    Location:372416
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:37555
    BTB; Broad-Complex, Tramtrack and Bric a brac
  2. NM_001172428.1NP_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
    pfam00651
    Location:34140
    BTB; BTB/POZ domain
  3. NM_018846.4NP_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)
    AK299006, BC039585, BG704835
    Consensus CDS
    CCDS5378.2
    UniProtKB/Swiss-Prot
    Q8IXQ5
    Related
    ENSP00000386263.1, ENST00000409689.5
    Conserved Domains (2) summary
    sd00038
    Location:324368
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:6507
    BTB; Broad-Complex, Tramtrack and Bric a brac

RNA

  1. NR_033328.1 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)
    AK056390, AK297595, BC039585, DC370850
    Related
    ENST00000521082.5
  2. NR_033329.1 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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    23105734..23175421
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715754.3XP_006715817.1  kelch-like protein 7 isoform X2

    See identical proteins and their annotated locations for XP_006715817.1

    Conserved Domains (2) summary
    sd00038
    Location:363407
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:20546
    BTB; Broad-Complex, Tramtrack and Bric a brac
  2. XM_017012441.2XP_016867930.1  kelch-like protein 7 isoform X7

  3. XM_006715753.3XP_006715816.1  kelch-like protein 7 isoform X1

    Conserved Domains (2) summary
    sd00038
    Location:385429
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:37568
    BTB; Broad-Complex, Tramtrack and Bric a brac
  4. XM_006715757.4XP_006715820.1  kelch-like protein 7 isoform X5

    Conserved Domains (3) summary
    smart00225
    Location:45140
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00651
    Location:34138
    BTB; BTB/POZ domain
    pfam07707
    Location:160261
    BACK; BTB And C-terminal Kelch
  5. XM_017012440.2XP_016867929.1  kelch-like protein 7 isoform X6

  6. XM_006715755.3XP_006715818.1  kelch-like protein 7 isoform X2

    See identical proteins and their annotated locations for XP_006715818.1

    Conserved Domains (2) summary
    sd00038
    Location:363407
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:20546
    BTB; Broad-Complex, Tramtrack and Bric a brac
  7. XM_017012439.2XP_016867928.1  kelch-like protein 7 isoform X3

    UniProtKB/Swiss-Prot
    Q8IXQ5
    UniProtKB/TrEMBL
    A0A024RA10
    Conserved Domains (2) summary
    sd00038
    Location:350394
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:20533
    BTB; Broad-Complex, Tramtrack and Bric a brac
  8. XM_006715756.3XP_006715819.1  kelch-like protein 7 isoform X4

    Conserved Domains (6) summary
    smart00612
    Location:396446
    Kelch; Kelch domain
    PHA03098
    Location:6520
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:337381
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:190
    BTB; BTB/POZ domain
    pfam01344
    Location:435480
    Kelch_1; Kelch motif
    pfam07707
    Location:112213
    BACK; BTB And C-terminal Kelch
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