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    CDV3 CDV3 homolog [ Homo sapiens (human) ]

    Gene ID: 55573, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CDV3provided by HGNC
    Official Full Name
    CDV3 homologprovided by HGNC
    Primary source
    HGNC:HGNC:26928
    See related
    Ensembl:ENSG00000091527 MIM:618789; AllianceGenome:HGNC:26928
    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
    H41
    Summary
    Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in lymph node (RPKM 58.2), appendix (RPKM 45.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CDV3 in Genome Data Viewer
    Location:
    3q22.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (133573686..133590274)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (136318831..136335422)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (133292530..133309118)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene BFSP2 antisense RNA 1 Neighboring gene MAF1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20549 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20550 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:133270481-133270980 Neighboring gene FAM76A pseudogene 1 Neighboring gene NANOG hESC enhancer GRCh37_chr3:133291701-133292202 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14746 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14747 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14748 Neighboring gene uncharacterized LOC124909437 Neighboring gene DNA topoisomerase II binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20553 Neighboring gene uncharacterized LOC124909487 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14749

    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 two-phase case-control study for colorectal cancer genetic susceptibility: candidate genes from chromosomal regions 9q22 and 3q22. Abulí A, et al. Br J Cancer, 2011 Sep 6. PMID 21811255, Free PMC Article
    2. Novel mRNA molecules are induced in hypertrophied ventricles of carnitine-deficient mice and belong to a family of up-regulated gene in cells overexpressing c-erbB-2. Fukumaru S, et al. Biochim Biophys Acta, 2002 Sep 27. PMID 12359334
    3. Identification of differentially expressed genes associated with HER-2/neu overexpression in human breast cancer cells. Oh JJ, et al. Nucleic Acids Res, 1999 Oct 15. PMID 10497265, Free PMC Article
    4. Akt and 14-3-3eta regulate Miz1 to control cell-cycle arrest after DNA damage. Wanzel M, et al. Nat Cell Biol, 2005 Jan. PMID 15580267
    5. Analysis of HIV-1 Gag protein interactions via biotin ligase tagging. Ritchie C, et al. J Virol, 2015 Apr. PMID 25631074, Free PMC Article

    See all (56) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Differential mRNA display shows increased levels of CDV3 in mice with cardiac hypertrophy.
      Title: Novel mRNA molecules are induced in hypertrophied ventricles of carnitine-deficient mice and belong to a family of up-regulated gene in cells overexpressing c-erbB-2.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Genetic variants associated with disordered eating.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag Cellular biotinylated CDV3 mouse homolog protein is incorporated into HIV-1 Gag virus-like particles PubMed

    Go to the HIV-1, Human Interaction Database

    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

    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    protein CDV3 homolog
    Names
    carnitine deficiency-associated gene expressed in ventricle 3

    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_001134422.2 → NP_001127894.1  protein CDV3 homolog isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform a.
      Source sequence(s)
      AK096865, BC007338, BM676291, BP336445, CB268158, CR991255
      Consensus CDS
      CCDS46917.1
      UniProtKB/Swiss-Prot
      Q9UKY7
      Related
      ENSP00000391955.2, ENST00000431519.6
      Conserved Domains (1) summary
      pfam15359
      Location:81 → 201
      CDV3; Carnitine deficiency-associated protein 3

    2. NM_001134423.2 → NP_001127895.1  protein CDV3 homolog isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in its 5' UTR, uses an alternate in-frame splice site in the 3' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (c) is shorter, compared to isoform a.
      Source sequence(s)
      AC016255, AK096865, BG773216, BM676291
      Consensus CDS
      CCDS46918.1
      UniProtKB/Swiss-Prot
      Q9UKY7
      Related
      ENSP00000413272.2, ENST00000420115.6
      Conserved Domains (1) summary
      pfam15359
      Location:1 → 99
      CDV3; Carnitine deficiency-associated protein 3

    3. NM_001282762.2 → NP_001269691.1  protein CDV3 homolog isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has multiple differences in its UTRs and the coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (d) has a shorter N-terminus and distinct C-terminus, compared to isoform a. Both variants 4 and 5 encode the same isoform.
      Source sequence(s)
      AC016255, AF103803, AK096865, BM676291, BM798790, DA949679
      Consensus CDS
      CCDS75013.1
      UniProtKB/TrEMBL
      D6R9V8
      Conserved Domains (1) summary
      pfam15359
      Location:1 → 99
      CDV3; Carnitine deficiency-associated protein 3

    4. NM_001282763.1 → NP_001269692.1  protein CDV3 homolog isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) has multiple differences in its UTRs and the coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (d) has a shorter N-terminus and distinct C-terminus, compared to isoform a. Both variants 4 and 5 encode the same isoform.
      Source sequence(s)
      AC016255, AF103803, AK096865, BG773216, BM676291
      Consensus CDS
      CCDS75013.1
      UniProtKB/TrEMBL
      D6R9V8
      Related
      ENSP00000422866.1, ENST00000508481.5
      Conserved Domains (1) summary
      pfam15359
      Location:1 → 99
      CDV3; Carnitine deficiency-associated protein 3

    5. NM_001282764.1 → NP_001269693.1  protein CDV3 homolog isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) has multiple differences in its UTRs and the coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (e) has a shorter N-terminus and distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AC016255, AK096865, BG773216, BM676291, BP215961, DB455474
      Consensus CDS
      CCDS75014.1
      UniProtKB/TrEMBL
      D6RFH2
      Related
      ENSP00000421495.1, ENST00000515421.1
      Conserved Domains (1) summary
      pfam15359
      Location:1 → 99
      CDV3; Carnitine deficiency-associated protein 3

    6. NM_001282765.1 → NP_001269694.1  protein CDV3 homolog isoform f

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) differs in its 5' UTR, uses two alternate in-frame splice sites in the 3' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (f) is shorter, compared to isoform a.
      Source sequence(s)
      AC016255, AK096865, BG773216, BM676291, BP215961, DB066830, DB455474
      Consensus CDS
      CCDS75015.1
      UniProtKB/TrEMBL
      D6RDN0
      Related
      ENSP00000425297.1, ENST00000511392.5
      Conserved Domains (1) summary
      pfam15359
      Location:1 → 97
      CDV3; Carnitine deficiency-associated protein 3

    7. NM_001410823.1 → NP_001397752.1  protein CDV3 homolog isoform g

      Status: VALIDATED

      Source sequence(s)
      AC016255
      Consensus CDS
      CCDS93387.1
      UniProtKB/TrEMBL
      A0A8I5KX85
      Related
      ENSP00000508628.1, ENST00000688838.1

    8. NM_017548.5 → NP_060018.1  protein CDV3 homolog isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3'-terminal exon, compared to variant 1. The encoded isoform (b) has a longer and distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AF103803, AK096865, BM676291, BM798790, BP336445
      Consensus CDS
      CCDS3079.1
      UniProtKB/Swiss-Prot
      B3KUC2, Q96IP9, Q9UKY7
      Related
      ENSP00000264993.3, ENST00000264993.8
      Conserved Domains (1) summary
      pfam15359
      Location:81 → 201
      CDV3; Carnitine deficiency-associated protein 3

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      133573686..133590274
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005247588.6 → XP_005247645.1  protein CDV3 homolog isoform X1

      Conserved Domains (1) summary
      pfam15359
      Location:81 → 201
      CDV3; Carnitine deficiency-associated protein 3

    2. XM_011512961.4 → XP_011511263.1  protein CDV3 homolog isoform X3

      Conserved Domains (1) summary
      pfam15359
      Location:81 → 201
      CDV3; Carnitine deficiency-associated protein 3

    3. XM_005247591.6 → XP_005247648.1  protein CDV3 homolog isoform X5

      Conserved Domains (1) summary
      pfam15359
      Location:81 → 201
      CDV3; Carnitine deficiency-associated protein 3

    4. XM_005247589.6 → XP_005247646.1  protein CDV3 homolog isoform X2

      Conserved Domains (1) summary
      pfam15359
      Location:81 → 200
      CDV3; Carnitine deficiency-associated protein 3

    5. XM_047448520.1 → XP_047304476.1  protein CDV3 homolog isoform X4

    6. XM_047448521.1 → XP_047304477.1  protein CDV3 homolog isoform X6

    7. XM_047448524.1 → XP_047304480.1  protein CDV3 homolog isoform X7

    8. XM_047448523.1 → XP_047304479.1  protein CDV3 homolog isoform X7

    9. XM_011512962.3 → XP_011511264.1  protein CDV3 homolog isoform X7

      Conserved Domains (1) summary
      pfam15359
      Location:1 → 99
      CDV3; Carnitine deficiency-associated protein 3

    10. XM_047448525.1 → XP_047304481.1  protein CDV3 homolog isoform X7

    11. XM_005247592.5 → XP_005247649.1  protein CDV3 homolog isoform X7

      Conserved Domains (1) summary
      pfam15359
      Location:1 → 99
      CDV3; Carnitine deficiency-associated protein 3

    12. XM_005247594.6 → XP_005247651.1  protein CDV3 homolog isoform X8

      Conserved Domains (1) summary
      pfam15359
      Location:1 → 98
      CDV3; Carnitine deficiency-associated protein 3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      136318831..136335422
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347184.1 → XP_054203159.1  protein CDV3 homolog isoform X1

    2. XM_054347186.1 → XP_054203161.1  protein CDV3 homolog isoform X3

    3. XM_054347188.1 → XP_054203163.1  protein CDV3 homolog isoform X5

    4. XM_054347185.1 → XP_054203160.1  protein CDV3 homolog isoform X2

    5. XM_054347187.1 → XP_054203162.1  protein CDV3 homolog isoform X4

    6. XM_054347189.1 → XP_054203164.1  protein CDV3 homolog isoform X6

    7. XM_054347192.1 → XP_054203167.1  protein CDV3 homolog isoform X7

    8. XM_054347190.1 → XP_054203165.1  protein CDV3 homolog isoform X7

    9. XM_054347193.1 → XP_054203168.1  protein CDV3 homolog isoform X7

    10. XM_054347194.1 → XP_054203169.1  protein CDV3 homolog isoform X8

    11. XM_054347191.1 → XP_054203166.1  protein CDV3 homolog isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UKY7.1 GenPept UniProtKB/Swiss-Prot:Q9UKY7

    Gene LinkOut

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