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    RHBDL3 rhomboid like 3 [ Homo sapiens (human) ]

    Gene ID: 162494, updated on 28-Oct-2024

    Summary

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    Official Symbol
    RHBDL3provided by HGNC
    Official Full Name
    rhomboid like 3provided by HGNC
    Primary source
    HGNC:HGNC:16502
    See related
    Ensembl:ENSG00000141314 MIM:619017; AllianceGenome:HGNC:16502
    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
    VRHO; RHBDL4
    Summary
    Predicted to enable serine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in brain (RPKM 5.3), adrenal (RPKM 1.6) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RHBDL3 in Genome Data Viewer
    Location:
    17q11.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (32265832..32324661)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (33211602..33270432)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (30592851..30651680)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903979 Neighboring gene uncharacterized LOC105371731 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:30602126-30602349 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12027 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:30606292-30607064 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:30607065-30607835 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:30607836-30608607 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:30616355-30617002 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:30625397-30626027 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:30629544-30630417 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:30630418-30631290 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:30649649-30650528 Neighboring gene uncharacterized LOC124903980 Neighboring gene chromosome 17 open reading frame 75 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:30668222-30668404 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:30668873-30669759 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:30673436-30673617 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12028 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12029 Neighboring gene oocyte secreted protein 1 pseudogene 2 Neighboring gene microRNA 632 Neighboring gene zinc finger protein 207

    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 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. The mammalian rhomboid protein RHBDL4 protects against endoplasmic reticulum stress by regulating the morphology and distribution of ER sheets. Lastun VL, et al. J Biol Chem, 2022 Jun. PMID 35436469, Free PMC Article
    2. Cloning and expression of Ventrhoid, a novel vertebrate homologue of the Drosophila EGF pathway gene rhomboid. Jászai J, et al. Mech Dev, 2002 Apr. PMID 11900977
    3. Emerging role of rhomboid family proteins in mammalian biology and disease. Bergbold N, et al. Biochim Biophys Acta, 2013 Dec. PMID 23562403
    4. Sampling the membrane: function of rhomboid-family proteins. Lemberg MK. Trends Cell Biol, 2013 May. PMID 23369641
    5. Ubiquitin-dependent intramembrane rhomboid protease promotes ERAD of membrane proteins. Fleig L, et al. Mol Cell, 2012 Aug 24. PMID 22795130

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The mammalian rhomboid protein RHBDL4 protects against endoplasmic reticulum stress by regulating the morphology and distribution of ER sheets.
      Title: The mammalian rhomboid protein RHBDL4 protects against endoplasmic reticulum stress by regulating the morphology and distribution of ER sheets.
    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

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ45582, MGC119300, MGC119301

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    rhomboid-related protein 3
    Names
    rhomboid, veinlet-like 3
    rhomboid, veinlet-like 4
    ventrhoid transmembrane protein
    NP_001317110.1
    NP_001350763.1
    NP_001350764.1
    NP_001350765.1
    NP_612201.1
    XP_006721797.1
    XP_016879762.1
    XP_016879763.1
    XP_016879764.1
    XP_016879765.1
    XP_016879766.1
    XP_016879767.1
    XP_016879769.1
    XP_047291463.1
    XP_054171249.1
    XP_054171250.1
    XP_054171251.1
    XP_054171252.1
    XP_054171253.1
    XP_054171254.1
    XP_054171255.1
    XP_054171256.1
    XP_054171257.1

    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_001330181.2 → NP_001317110.1  rhomboid-related protein 3 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC026620, AJ313480, AK124570, AK127490, BC016953, BC100977
      Consensus CDS
      CCDS82103.1
      UniProtKB/Swiss-Prot
      P58872
      Related
      ENSP00000442092.1, ENST00000538145.5
      Conserved Domains (2) summary
      pfam01694
      Location:197 → 351
      Rhomboid; Rhomboid family
      pfam13499
      Location:38 → 92
      EF-hand_7; EF-hand domain pair

    2. NM_001363834.1 → NP_001350763.1  rhomboid-related protein 3 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC005899, AC026620
      Conserved Domains (1) summary
      pfam01694
      Location:144 → 298
      Rhomboid; Rhomboid family

    3. NM_001363835.1 → NP_001350764.1  rhomboid-related protein 3 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC005899, BC100976
      UniProtKB/TrEMBL
      A4FU16, E9PD28
      Related
      ENSP00000394849.2, ENST00000431505.6
      Conserved Domains (3) summary
      pfam13499
      Location:36 → 100
      EF-hand_7; EF-hand domain pair
      cd15897
      Location:38 → 67
      EFh_PEF; EF-hand motif [structural motif]
      cl21536
      Location:205 → 260
      Rhomboid; Rhomboid family

    4. NM_001363836.1 → NP_001350765.1  rhomboid-related protein 3 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC005899, BC100978
      Consensus CDS
      CCDS92287.1
      Related
      ENSP00000466508.1, ENST00000536287.2
      Conserved Domains (1) summary
      pfam01694
      Location:107 → 261
      Rhomboid; Rhomboid family

    5. NM_138328.3 → NP_612201.1  rhomboid-related protein 3 isoform 1

      See identical proteins and their annotated locations for NP_612201.1

      Status: VALIDATED

      Source sequence(s)
      AC026620, AJ313480, AK124570, AK127490, BC016953
      Consensus CDS
      CCDS32613.1
      UniProtKB/Swiss-Prot
      A6NMH1, P58872, Q495Y4, Q495Y5, Q495Y6
      Related
      ENSP00000269051.4, ENST00000269051.9
      Conserved Domains (2) summary
      pfam01694
      Location:205 → 359
      Rhomboid; Rhomboid family
      pfam13499
      Location:36 → 100
      EF-hand_7; EF-hand domain pair

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      32265832..32324661
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435507.1 → XP_047291463.1  rhomboid-related protein 3 isoform X6

    2. XM_017024275.2 → XP_016879764.1  rhomboid-related protein 3 isoform X3

      UniProtKB/TrEMBL
      A4FU16, E9PD28

    3. XM_017024273.2 → XP_016879762.1  rhomboid-related protein 3 isoform X1

      UniProtKB/TrEMBL
      A4FU16, E9PD28

    4. XM_017024276.2 → XP_016879765.1  rhomboid-related protein 3 isoform X4

      UniProtKB/TrEMBL
      A4FU16, E9PD28

    5. XM_006721734.4 → XP_006721797.1  rhomboid-related protein 3 isoform X5

      Conserved Domains (2) summary
      pfam01694
      Location:163 → 317
      Rhomboid; Rhomboid family
      cl08302
      Location:4 → 58
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    6. XM_017024274.2 → XP_016879763.1  rhomboid-related protein 3 isoform X2

      UniProtKB/TrEMBL
      A4FU16, E9PD28

    7. XM_017024278.2 → XP_016879767.1  rhomboid-related protein 3 isoform X7

    8. XM_017024277.2 → XP_016879766.1  rhomboid-related protein 3 isoform X7

    9. XM_017024280.2 → XP_016879769.1  rhomboid-related protein 3 isoform X8

    RNA

    1. XR_001752439.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      33211602..33270432
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315279.1 → XP_054171254.1  rhomboid-related protein 3 isoform X6

    2. XM_054315276.1 → XP_054171251.1  rhomboid-related protein 3 isoform X3

    3. XM_054315274.1 → XP_054171249.1  rhomboid-related protein 3 isoform X1

    4. XM_054315277.1 → XP_054171252.1  rhomboid-related protein 3 isoform X4

    5. XM_054315278.1 → XP_054171253.1  rhomboid-related protein 3 isoform X5

    6. XM_054315275.1 → XP_054171250.1  rhomboid-related protein 3 isoform X2

    7. XM_054315281.1 → XP_054171256.1  rhomboid-related protein 3 isoform X7

    8. XM_054315280.1 → XP_054171255.1  rhomboid-related protein 3 isoform X7

    9. XM_054315282.1 → XP_054171257.1  rhomboid-related protein 3 isoform X8

    RNA

    1. XR_008484792.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P58872.1 GenPept UniProtKB/Swiss-Prot:P58872

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