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Aliases for RHBDD3 Gene

Aliases for RHBDD3 Gene

  • Rhomboid Domain Containing 3 2 3
  • C22orf3 3 4
  • Rhomboid Domain-Containing Protein 3 3
  • Chromosome 22 Open Reading Frame 3 2
  • Pituitary Tumor Apoptosis 3
  • HS984G1A 3
  • PTAG 3

External Ids for RHBDD3 Gene

Previous HGNC Symbols for RHBDD3 Gene

  • C22orf3

Previous GeneCards Identifiers for RHBDD3 Gene

  • GC22M027985
  • GC22M029655
  • GC22M012620

Summaries for RHBDD3 Gene

GeneCards Summary for RHBDD3 Gene

RHBDD3 (Rhomboid Domain Containing 3) is a Protein Coding gene. GO annotations related to this gene include serine-type endopeptidase activity.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RHBDD3 Gene

Genomics for RHBDD3 Gene

Regulatory Elements for RHBDD3 Gene

Transcription factor binding sites by QIAGEN in the RHBDD3 gene promoter:

Genomic Location for RHBDD3 Gene

Start:
29,259,852 bp from pter
End:
29,268,209 bp from pter
Size:
8,358 bases
Orientation:
Minus strand

Genomic View for RHBDD3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RHBDD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RHBDD3 Gene

Proteins for RHBDD3 Gene

  • Protein details for RHBDD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y3P4-RHBD3_HUMAN
    Recommended name:
    Rhomboid domain-containing protein 3
    Protein Accession:
    Q9Y3P4
    Secondary Accessions:
    • Q6I9X3
    • Q9UGQ7

    Protein attributes for RHBDD3 Gene

    Size:
    386 amino acids
    Molecular mass:
    40484 Da
    Quaternary structure:
    No Data Available

neXtProt entry for RHBDD3 Gene

Proteomics data for RHBDD3 Gene at MOPED

Post-translational modifications for RHBDD3 Gene

  • Ubiquitination at Lys374
  • Modification sites at PhosphoSitePlus

Other Protein References for RHBDD3 Gene

No data available for DME Specific Peptides for RHBDD3 Gene

Domains for RHBDD3 Gene

Protein Domains for RHBDD3 Gene

Suggested Antigen Peptide Sequences for RHBDD3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y3P4

UniProtKB/Swiss-Prot:

RHBD3_HUMAN :
  • Q9Y3P4
Domain:
  • Contains 1 UBA domain.
genes like me logo Genes that share domains with RHBDD3: view

No data available for Gene Families for RHBDD3 Gene

Function for RHBDD3 Gene

Gene Ontology (GO) - Molecular Function for RHBDD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with RHBDD3: view
genes like me logo Genes that share phenotypes with RHBDD3: view

Animal Models for RHBDD3 Gene

MGI Knock Outs for RHBDD3:

No data available for Molecular function , Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for RHBDD3 Gene

Localization for RHBDD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RHBDD3 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RHBDD3 Gene COMPARTMENTS Subcellular localization image for RHBDD3 gene
Compartment Confidence
plasma membrane 2
cytoskeleton 1
endoplasmic reticulum 1
extracellular 1
lysosome 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for RHBDD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with RHBDD3: view

Pathways for RHBDD3 Gene

SuperPathways for RHBDD3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RHBDD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade IEA --
GO:0001889 liver development IEA --
GO:0002673 regulation of acute inflammatory response IEA --
GO:0006508 proteolysis IEA --
GO:0009410 response to xenobiotic stimulus IEA --
genes like me logo Genes that share ontologies with RHBDD3: view

No data available for Pathways by source for RHBDD3 Gene

Transcripts for RHBDD3 Gene

Unigene Clusters for RHBDD3 Gene

Rhomboid domain containing 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RHBDD3 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - - - -
SP4: - -
SP5: - - -
SP6: - -
SP7:
SP8: -

Relevant External Links for RHBDD3 Gene

GeneLoc Exon Structure for
RHBDD3
ECgene alternative splicing isoforms for
RHBDD3

Expression for RHBDD3 Gene

mRNA expression in normal human tissues for RHBDD3 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RHBDD3 Gene

SOURCE GeneReport for Unigene cluster for RHBDD3 Gene Hs.106730

genes like me logo Genes that share expressions with RHBDD3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RHBDD3 Gene

Orthologs for RHBDD3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RHBDD3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RHBDD3 35
  • 96.49 (n)
  • 96.05 (a)
RHBDD3 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RHBDD3 35
  • 83.48 (n)
  • 82.79 (a)
RHBDD3 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RHBDD3 35
  • 84.97 (n)
  • 82.9 (a)
RHBDD3 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rhbdd3 35
  • 79.46 (n)
  • 76.24 (a)
Rhbdd3 16
Rhbdd3 36
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RHBDD3 36
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RHBDD3 36
  • 54 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rhbdd3 35
  • 79.46 (n)
  • 77.28 (a)
lizard
(Anolis carolinensis)
Reptilia RHBDD3 36
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rhbdd3 35
  • 46.47 (n)
  • 36.52 (a)
zebrafish
(Danio rerio)
Actinopterygii rhbdd3 36
  • 32 (a)
OneToOne
Species with no ortholog for RHBDD3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RHBDD3 Gene

ENSEMBL:
Gene Tree for RHBDD3 (if available)
TreeFam:
Gene Tree for RHBDD3 (if available)

Paralogs for RHBDD3 Gene

Selected SIMAP similar genes for RHBDD3 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with RHBDD3: view

No data available for Paralogs for RHBDD3 Gene

Variants for RHBDD3 Gene

Sequence variations from dbSNP and Humsavar for RHBDD3 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs879580 -- 29,263,971(-) GGGGA(A/G)GGACA synonymous-codon, reference, intron-variant
rs2231393 -- 29,264,078(-) TGCTC(A/G)CCCTG missense, reference, intron-variant
rs2231394 -- 29,263,964(-) GACAC(C/T)GCCCT reference, missense, intron-variant
rs2231395 -- 29,263,808(-) GGCCC(A/G)TGGGG intron-variant
rs2231396 -- 29,263,726(-) GGAGC(C/T)GTGCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RHBDD3 Gene

Variant ID Type Subtype PubMed ID
nsv829154 CNV Gain 20364138
nsv834171 CNV Loss 17160897

Relevant External Links for RHBDD3 Gene

HapMap Linkage Disequilibrium report
RHBDD3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RHBDD3 Gene

Disorders for RHBDD3 Gene

No disorders were found for RHBDD3 Gene.

No data available for UniProtKB/Swiss-Prot for RHBDD3 Gene

Publications for RHBDD3 Gene

  1. Isolation and characterization of a novel pituitary tumor apoptosis gene. (PMID: 15105437) Bahar A. … Farrell W.E. (Mol. Endocrinol. 2004) 2 3 23
  2. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 2 3 4
  3. Reevaluating human gene annotation: a second-generation analysis of chromosome 22. (PMID: 12529303) Collins J.E. … Dunham I. (Genome Res. 2003) 3 4
  4. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins J.E. … Dunham I. (Genome Biol. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for RHBDD3 Gene

  • antibodies-online peptides for RHBDD3
  • antibodies-online antibodies for RHBDD3
  • antibodies-online kits for RHBDD3

Sources for RHBDD3 Gene

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