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

    Gene ID: 126823, updated on 14-Nov-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, Nov 2024]
    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_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (161098361..161100346)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (160235842..160237827)
    RS_2024_09 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 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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    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)

    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 

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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