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CDV3 CDV3 homolog [ Homo sapiens (human) ]

Gene ID: 55573, updated on 7-Apr-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, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (133573686..133590274)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (136318831..136335422)
105.20220307 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 (45) 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)

Genotypes

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

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
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

    See identical proteins and their annotated locations for NP_001127894.1

    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

    See identical proteins and their annotated locations for NP_001127895.1

    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

    See identical proteins and their annotated locations for NP_001269691.1

    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

    See identical proteins and their annotated locations for NP_001269692.1

    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

    See identical proteins and their annotated locations for NP_060018.1

    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_2023_10

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

    See identical proteins and their annotated locations for XP_011511264.1

    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

    See identical proteins and their annotated locations for XP_005247649.1

    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

    See identical proteins and their annotated locations for XP_005247651.1

    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

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