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KLHDC9 kelch domain containing 9 [ Homo sapiens (human) ]

Gene ID: 126823, updated on 5-Mar-2024

Summary

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Official Symbol
KLHDC9provided by HGNC
Official Full Name
kelch domain containing 9provided by HGNC
Primary source
HGNC:HGNC:28489
See related
Ensembl:ENSG00000162755 MIM:617375; AllianceGenome:HGNC:28489
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
KARCA1
Summary
Enables cyclin binding activity. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 19.7), kidney (RPKM 4.9) and 14 other tissues See more
Orthologs
mouse all
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Genomic context

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See KLHDC9 in Genome Data Viewer
Location:
1q23.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (161098361..161100346)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (160235842..160237827)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (161068151..161070136)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Rho GTPase activating protein 30 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:161038974-161039520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1974 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:161044543-161045219 Neighboring gene nectin cell adhesion molecule 4 Neighboring gene NECTIN4 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1975 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1466 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1467 Neighboring gene prefoldin subunit 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1976 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:161087283-161088263 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:161093620-161094120 Neighboring gene nitrilase 1 Neighboring gene death effector domain containing

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. Identification of interaction partners and substrates of the cyclin A1-CDK2 complex. Diederichs S, et al. J Biol Chem, 2004 Aug 6. PMID 15159402
  2. Expressed sequence tag analysis of human retina for the NEIBank Project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts. Wistow G, et al. Mol Vis, 2002 Jun 15. PMID 12107411
  3. Genome-wide CRISPR screening reveals genetic modifiers of mutant EGFR dependence in human NSCLC. Zeng H, et al. Elife, 2019 Nov 19. PMID 31741433, Free PMC Article
  4. A germline-specific class of small RNAs binds mammalian Piwi proteins. Girard A, et al. Nature, 2006 Jul 13. PMID 16751776
  5. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. Suzuki Y, et al. Genome Res, 2004 Sep. PMID 15342556, Free PMC Article

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

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

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC33338

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cyclin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables cyclin binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  

General protein information

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Preferred Names
kelch domain-containing protein 9
Names
kelch/ankyrin repeat-containing cyclin A1-interacting 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)

  1. NM_001007255.3 → NP_001007256.1  kelch domain-containing protein 9 isoform b

    See identical proteins and their annotated locations for NP_001007256.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site compared to variant 1, that causes a frameshift. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.
    Source sequence(s)
    AL591806, AY601914, BC066896, BG718418
    Consensus CDS
    CCDS41425.1
    UniProtKB/Swiss-Prot
    Q8NEP7
    Related
    ENSP00000376030.2, ENST00000392192.6
    Conserved Domains (2) summary
    PLN02153
    Location:11 → 164
    PLN02153; epithiospecifier protein
    sd00038
    Location:28 → 76
    Kelch; KELCH repeat [structural motif]

  2. NM_152366.5 → NP_689579.3  kelch domain-containing protein 9 isoform a

    See identical proteins and their annotated locations for NP_689579.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AL591806, BC022077, BC066896, BG718418
    Consensus CDS
    CCDS30919.1
    UniProtKB/Swiss-Prot
    Q5SY56, Q6NXT9, Q6PKN4, Q8N5E1, Q8NA16, Q8NEP7
    Related
    ENSP00000356990.4, ENST00000368011.9
    Conserved Domains (3) summary
    sd00038
    Location:28 → 76
    Kelch; KELCH repeat [structural motif]
    pfam01344
    Location:78 → 118
    Kelch_1; Kelch motif
    pfam13415
    Location:37 → 85
    Kelch_3; Galactose oxidase, central domain

RNA

  1. NR_033385.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an alternate 5' terminal exon compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
    Source sequence(s)
    BC022077, BI549017, BP379202, BQ638407, BU173744
    Related
    ENST00000490724.6

  2. NR_033386.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains an alternate 5' terminal exon and uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
    Source sequence(s)
    BC022077, BI549017, BP379202, BU173744

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    161098361..161100346
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    160235842..160237827
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001007256.1: Suppressed sequence

    Description
    NM_001007256.1: This RefSeq was permanently suppressed because currently there is insufficient support for the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NEP7.2 GenPept UniProtKB/Swiss-Prot:Q8NEP7

Gene LinkOut

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