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

Gene ID: 150383, updated on 12-Aug-2022

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
C22orf40
Expression
Ubiquitous expression in ovary (RPKM 2.6), spleen (RPKM 2.6) and 25 other tissues See more
Orthologs
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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
110 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (46244013..46250293, complement)
110 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 uncharacterized LOC105373074 Neighboring gene peroxisome proliferator activated receptor alpha 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

See citations in PubMed for homologs of this gene provided by HomoloGene

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
    Q3ZCR8, Q6NVV7
    Related
    ENSP00000325301.3, ENST00000314567.8
    Conserved Domains (1) summary
    pfam10170
    Location:13 → 106
    C6_DPF; Cysteine-rich domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    Q3ZCR8, Q6NVV7
    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)

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

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