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    RHBDD3 rhomboid domain containing 3 [ Homo sapiens (human) ]

    Gene ID: 25807, updated on 27-Nov-2024

    Summary

    Official Symbol
    RHBDD3provided by HGNC
    Official Full Name
    rhomboid domain containing 3provided by HGNC
    Primary source
    HGNC:HGNC:1308
    See related
    Ensembl:ENSG00000100263 AllianceGenome:HGNC:1308
    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
    PTAG; C22orf3; HS984G1A
    Summary
    Predicted to enable serine-type endopeptidase activity. Predicted to act upstream of or within several processes, including MAPK cascade; negative regulation of natural killer cell activation; and positive regulation of protein catabolic process. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 5.8), prostate (RPKM 4.1) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See RHBDD3 in Genome Data Viewer
    Location:
    22q12.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (29259852..29268163, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (29723344..29731654, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (29655841..29664152, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29611869-29612448 Neighboring gene uncharacterized LOC124905099 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29612449-29613028 Neighboring gene EMI domain containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29613609-29614188 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29614189-29614768 Neighboring gene uncharacterized LOC105372985 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29619669-29620170 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29629634-29630134 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29630135-29630635 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29655585-29656439 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29656440-29657293 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29663849-29664720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18813 Neighboring gene EWS RNA binding protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29698939-29699439 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29701647-29702392 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29702393-29703136 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13591 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18815 Neighboring gene growth arrest specific 2 like 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
    EBI GWAS Catalog
    Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in liver development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of natural killer cell activation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of acute inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of protein secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    rhomboid domain-containing protein 3
    Names
    hypothetical protein HS984G1A
    pituitary tumor apoptosis

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001329536.1NP_001316465.1  rhomboid domain-containing protein 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AL031186
      Consensus CDS
      CCDS13850.1
      UniProtKB/Swiss-Prot
      Q6I9X3, Q9UGQ7, Q9Y3P4
      Conserved Domains (1) summary
      cd14289
      Location:327370
      UBA_RHBD3; UBA domain found in vertebrate rhomboid domain-containing protein 3 (RHBD3)
    2. NM_012265.3NP_036397.1  rhomboid domain-containing protein 3

      See identical proteins and their annotated locations for NP_036397.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AL050346, HY120483
      Consensus CDS
      CCDS13850.1
      UniProtKB/Swiss-Prot
      Q6I9X3, Q9UGQ7, Q9Y3P4
      Related
      ENSP00000216085.7, ENST00000216085.12
      Conserved Domains (1) summary
      cd14289
      Location:327370
      UBA_RHBD3; UBA domain found in vertebrate rhomboid domain-containing protein 3 (RHBD3)

    RNA

    1. NR_138044.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon and contains another alternate exon compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AL031186
      Related
      ENST00000413137.6

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      29259852..29268163 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024452209.2XP_024307977.1  rhomboid domain-containing protein 3 isoform X1

      Conserved Domains (1) summary
      cd14289
      Location:330373
      UBA_RHBD3; UBA domain found in vertebrate rhomboid domain-containing protein 3 (RHBD3)
    2. XM_006724224.5XP_006724287.1  rhomboid domain-containing protein 3 isoform X2

      Conserved Domains (1) summary
      cd14289
      Location:199242
      UBA_RHBD3; UBA domain found in vertebrate rhomboid domain-containing protein 3 (RHBD3)
    3. XM_024452208.2XP_024307976.1  rhomboid domain-containing protein 3 isoform X1

      Conserved Domains (1) summary
      cd14289
      Location:330373
      UBA_RHBD3; UBA domain found in vertebrate rhomboid domain-containing protein 3 (RHBD3)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      29723344..29731654 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325486.1XP_054181461.1  rhomboid domain-containing protein 3 isoform X1

    2. XM_054325487.1XP_054181462.1  rhomboid domain-containing protein 3 isoform X2

    3. XM_054325485.1XP_054181460.1  rhomboid domain-containing protein 3 isoform X1