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KLHL29 kelch like family member 29 [ Homo sapiens (human) ]

Gene ID: 114818, updated on 1-Aug-2020

Summary

Official Symbol
KLHL29provided by HGNC
Official Full Name
kelch like family member 29provided by HGNC
Primary source
HGNC:HGNC:29404
See related
Ensembl:ENSG00000119771
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KBTBD9
Expression
Ubiquitous expression in adrenal (RPKM 5.0), prostate (RPKM 2.9) and 24 other tissues See more
Orthologs

Genomic context

See KLHL29 in Genome Data Viewer
Location:
2p24.1
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (23385179..23708606)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (23608298..23931483)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723389 Neighboring gene uncharacterized LOC105374323 Neighboring gene peptidylprolyl isomerase A pseudogene 61 Neighboring gene uncharacterized LOC105374325 Neighboring gene uncharacterized LOC102723401 Neighboring gene ATPase family AAA domain containing 2B Neighboring gene phosphoglycerate mutase 1 pseudogene 6 Neighboring gene ribosomal protein S13 pseudogene 4

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 Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
NHGRI GWA Catalog
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1921

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 

General protein information

Preferred Names
kelch-like protein 29
Names
kelch repeat and BTB (POZ) domain containing 9
kelch repeat and BTB domain-containing protein 9
kelch-like 29

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.

mRNA and Protein(s)

  1. NM_052920.2NP_443152.1  kelch-like protein 29

    See identical proteins and their annotated locations for NP_443152.1

    Status: VALIDATED

    Source sequence(s)
    AB067508, AC011239, AC012506, BC013982, BE142100, DR002067
    Consensus CDS
    CCDS54335.1
    UniProtKB/Swiss-Prot
    Q96CT2
    Related
    ENSP00000420659.1, ENST00000486442.6
    Conserved Domains (6) summary
    smart00612
    Location:822870
    Kelch; Kelch domain
    PHA03098
    Location:333860
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:673716
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:319427
    BTB; BTB/POZ domain
    pfam01344
    Location:672717
    Kelch_1; Kelch motif
    pfam07707
    Location:436537
    BACK; BTB And C-terminal Kelch

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    23385179..23708606
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017003264.2XP_016858753.1  kelch-like protein 29 isoform X1

    UniProtKB/Swiss-Prot
    Q96CT2
    Conserved Domains (6) summary
    smart00612
    Location:822870
    Kelch; Kelch domain
    PHA03098
    Location:333860
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:673716
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:319427
    BTB; BTB/POZ domain
    pfam01344
    Location:672717
    Kelch_1; Kelch motif
    pfam07707
    Location:436537
    BACK; BTB And C-terminal Kelch
  2. XM_006711929.3XP_006711992.1  kelch-like protein 29 isoform X1

    See identical proteins and their annotated locations for XP_006711992.1

    UniProtKB/Swiss-Prot
    Q96CT2
    Conserved Domains (6) summary
    smart00612
    Location:822870
    Kelch; Kelch domain
    PHA03098
    Location:333860
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:673716
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:319427
    BTB; BTB/POZ domain
    pfam01344
    Location:672717
    Kelch_1; Kelch motif
    pfam07707
    Location:436537
    BACK; BTB And C-terminal Kelch
  3. XM_011532501.2XP_011530803.1  kelch-like protein 29 isoform X2

    Conserved Domains (6) summary
    smart00612
    Location:516564
    Kelch; Kelch domain
    PHA03098
    Location:27554
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:367410
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:13121
    BTB; BTB/POZ domain
    pfam01344
    Location:366411
    Kelch_1; Kelch motif
    pfam07707
    Location:130231
    BACK; BTB And C-terminal Kelch

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_025067.1: Suppressed sequence

    Description
    NM_025067.1: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.
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