Sign in to NCBI
Format

Send to:

Choose Destination

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

Gene ID: 150383, updated on 21-Dec-2019

Summary

Go to the top of the page Help
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
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
mouse all

Genomic context

Go to the top of the page Help
See CDPF1 in Genome Data Viewer
Location:
22q13.31
Exon count:
6
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (46244013..46250780, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (46639910..46646193, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene MIRLET7B host gene Neighboring gene microRNA let-7b 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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. 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
  3. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. Hein MY, et al. Cell, 2015 Oct 22. PMID 26496610
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

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

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

Go to the top of the page Help
Preferred Names
cysteine-rich DPF motif domain-containing protein 1
Names
UPF0595 protein C22orf40

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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
    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 Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    46244013..46250780 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529960.2 → 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_011529965.2 → XP_011528267.1  cysteine-rich DPF motif domain-containing protein 1 isoform X4

    See identical proteins and their annotated locations for XP_011528267.1

    UniProtKB/Swiss-Prot
    Q6NVV7
    Conserved Domains (1) summary
    pfam10170
    Location:13 → 106
    C6_DPF; Cysteine-rich domain

  3. XM_011529963.2 → XP_011528265.1  cysteine-rich DPF motif domain-containing protein 1 isoform X2

    Conserved Domains (1) summary
    pfam10170
    Location:13 → 36
    C6_DPF; Cysteine-rich domain

  4. XM_011529964.2 → XP_011528266.1  cysteine-rich DPF motif domain-containing protein 1 isoform X3

    Related
    ENSP00000385460.1, ENST00000404744.1
    Conserved Domains (1) summary
    pfam10170
    Location:13 → 36
    C6_DPF; Cysteine-rich domain

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

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous
You are here: NCBI > Genes & Expression > Gene
Support Center