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    CDPF1 cysteine rich DPF motif domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 150383, updated on 6-Jun-2024

    Summary

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    Official Symbol
    CDPF1provided by HGNC
    Official Full Name
    cysteine rich DPF motif domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:33710
    See related
    Ensembl:ENSG00000205643 AllianceGenome:HGNC:33710
    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
    CDKN1A; C22orf40
    Expression
    Ubiquitous expression in ovary (RPKM 2.6), spleen (RPKM 2.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CDPF1 in Genome Data Viewer
    Location:
    22q13.31
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (46244013..46250293, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (46728714..46734994, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (46639910..46646190, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905137 Neighboring gene uncharacterized LOC124905138 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:46533901-46534402 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13903 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19232 Neighboring gene uncharacterized LOC105373074 Neighboring gene peroxisome proliferator activated receptor alpha Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:46591783-46592283 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:46596710-46597314 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:46597315-46597919 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:46610267-46610768 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13905 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:46645973-46646480 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19233 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13907 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13908 Neighboring gene polycystin family receptor for egg jelly Neighboring gene tetratricopeptide repeat domain 38

    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 genome annotation-driven approach to cloning the human ORFeome. Collins JE, et al. Genome Biol, 2004. PMID 15461802, Free PMC Article
    2. Systematic protein-protein interaction mapping for clinically relevant human GPCRs. Sokolina K, et al. Mol Syst Biol, 2017 Mar 15. PMID 28298427, Free PMC Article
    3. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. Oláh J, et al. J Biol Chem, 2011 Sep 30. PMID 21832049, Free PMC Article
    4. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article
    5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. Hein MY, et al. Cell, 2015 Oct 22. PMID 26496610

    See all (8) 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

    Gene Ontology Provided by GOA

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

    General protein information

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    Preferred Names
    cysteine-rich DPF motif domain-containing protein 1
    Names
    UPF0595 protein C22orf40

    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_207327.5 → NP_997210.3  cysteine-rich DPF motif domain-containing protein 1

      See identical proteins and their annotated locations for NP_997210.3

      Status: VALIDATED

      Source sequence(s)
      AW085176, BC067871
      Consensus CDS
      CCDS33670.1
      UniProtKB/Swiss-Prot
      A6NCA1, A9IU12, A9IU16, Q3ZCR8, Q6NVV7
      UniProtKB/TrEMBL
      F6RAJ7
      Related
      ENSP00000325301.3, ENST00000314567.8
      Conserved Domains (1) summary
      pfam10170
      Location:13 → 106
      C6_DPF; Cysteine-rich domain

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      46244013..46250293 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011529960.3 → XP_011528262.1  cysteine-rich DPF motif domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011528262.1

      Conserved Domains (1) summary
      pfam10170
      Location:13 → 75
      C6_DPF; Cysteine-rich domain

    2. XM_011529965.3 → XP_011528267.1  cysteine-rich DPF motif domain-containing protein 1 isoform X2

      See identical proteins and their annotated locations for XP_011528267.1

      UniProtKB/Swiss-Prot
      A6NCA1, A9IU12, A9IU16, Q3ZCR8, Q6NVV7
      UniProtKB/TrEMBL
      F6RAJ7
      Conserved Domains (1) summary
      pfam10170
      Location:13 → 106
      C6_DPF; Cysteine-rich domain

    3. XM_047441165.1 → XP_047297121.1  cysteine-rich DPF motif domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      F6UL18
      Related
      ENSP00000385460.1, ENST00000404744.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      46728714..46734994 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325185.1 → XP_054181160.1  cysteine-rich DPF motif domain-containing protein 1 isoform X1

    2. XM_054325186.1 → XP_054181161.1  cysteine-rich DPF motif domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      F6RAJ7

    3. XM_054325187.1 → XP_054181162.1  cysteine-rich DPF motif domain-containing protein 1 isoform X3

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001008917.1: Suppressed sequence

      Description
      NM_001008917.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6NVV7.1 GenPept UniProtKB/Swiss-Prot:Q6NVV7

    Gene LinkOut

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