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    RHBDF1 rhomboid 5 homolog 1 [ Homo sapiens (human) ]

    Gene ID: 64285, updated on 2-Nov-2024

    Summary

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    Official Symbol
    RHBDF1provided by HGNC
    Official Full Name
    rhomboid 5 homolog 1provided by HGNC
    Primary source
    HGNC:HGNC:20561
    See related
    Ensembl:ENSG00000007384 MIM:614403; AllianceGenome:HGNC:20561
    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
    Dist1; hDist1; C16orf8; EGFR-RS; gene-89; gene-90
    Summary
    Predicted to enable growth factor binding activity and serine-type endopeptidase activity. Involved in several processes, including negative regulation of protein secretion; regulation of epidermal growth factor receptor signaling pathway; and regulation of proteasomal protein catabolic process. Located in Golgi membrane and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in placenta (RPKM 12.8), prostate (RPKM 9.9) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RHBDF1 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (58059..76360, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (51596..69903, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (108058..122629, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:102874-103400 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6897 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6898 Neighboring gene RNA polymerase III subunit K Neighboring gene small nuclear ribonucleoprotein U11/U12 subunit 25 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10199 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:120389-121206 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:122199-122382 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6899 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:122843-123660 Neighboring gene uncharacterized LOC124903617 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:123661-124478 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:124479-125296 Neighboring gene Sharpr-MPRA regulatory region 13767 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:133607-134462 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6901 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10200 Neighboring gene N-methylpurine DNA glycosylase Neighboring gene alpha-globin locus control region Neighboring gene NPR3 like, GATOR1 complex subunit Neighboring gene hemoglobin subunit zeta

    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. Human rhomboid family-1 gene silencing causes apoptosis or autophagy to epithelial cancer cells and inhibits xenograft tumor growth. Yan Z, et al. Mol Cancer Ther, 2008 Jun. PMID 18524845, Free PMC Article
    2. Alternative splicing of the human rhomboid family-1 gene RHBDF1 inhibits epidermal growth factor receptor activation. Ji R, et al. J Biol Chem, 2022 Jun. PMID 35595096, Free PMC Article
    3. RHBDF1 promotes AP-1-activated endothelial-mesenchymal transition in tumor fibrotic stroma formation. Gao S, et al. Signal Transduct Target Ther, 2021 Jul 19. PMID 34276048, Free PMC Article
    4. Perturbation of epithelial apicobasal polarity by rhomboid family-1 gene overexpression. Peng XM, et al. FASEB J, 2018 Oct. PMID 29727209
    5. Human rhomboid family-1 modulates clathrin coated vesicle-dependent pro-transforming growth factor α membrane trafficking to promote breast cancer progression. Li J, et al. EBioMedicine, 2018 Oct. PMID 30279141, Free PMC Article

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RHBDF1 deficiency suppresses melanoma glycolysis and enhances efficacy of immunotherapy by facilitating glucose-6-phosphate isomerase degradation via TRIM32.
      Title: RHBDF1 deficiency suppresses melanoma glycolysis and enhances efficacy of immunotherapy by facilitating glucose-6-phosphate isomerase degradation via TRIM32.
    2. Alternative splicing of the human rhomboid family-1 gene RHBDF1 inhibits epidermal growth factor receptor activation.
      Title: Alternative splicing of the human rhomboid family-1 gene RHBDF1 inhibits epidermal growth factor receptor activation.
    3. Attenuation of Excess TNF-alpha Release in Crohn's Disease by Silencing of iRHOMs 1/2 and the Restoration of TGF-beta Mediated Immunosuppression Through Modulation of TACE Trafficking.
      Title: Attenuation of Excess TNF-α Release in Crohn's Disease by Silencing of iRHOMs 1/2 and the Restoration of TGF-β Mediated Immunosuppression Through Modulation of TACE Trafficking.
    4. RHBDF1 promotes AP-1-activated endothelial-mesenchymal transition in tumor fibrotic stroma formation.
      Title: RHBDF1 promotes AP-1-activated endothelial-mesenchymal transition in tumor fibrotic stroma formation.
    5. Results revealed that cervical cancer (CC) tissues had higher levels of iRhom1 than adjacent normal tissues. Its increased expression was significantly associated with tumor stage, size, and parametrium invasion as well as poor outcomes. Knockdown of iRhom1 in HeLa cells inhibited cell growth, disrupted the cell cycle, and promoted apoptosis.
      Title: Association of iRhom1 and iRhom2 expression with prognosis in patients with cervical cancer and possible signaling pathways.
    6. findings indicate that perturbations of apicobasal polarity by high levels of RHBDF1 is a significant attribute in the development of breast neoplasia.
      Title: Perturbation of epithelial apicobasal polarity by rhomboid family-1 gene overexpression.
    7. that the regulatory effects of RHBDF1 on epithelial-to-mesenchymal transition and on cell proliferation are partially attributable to the Wnt/beta-catenin signalling pathway
      Title: RHBDF1 regulates APC-mediated stimulation of the epithelial-to-mesenchymal transition and proliferation of colorectal cancer cells in part via the Wnt/β-catenin signalling pathway.
    8. RHBDF1 is an indispensable component of the protein trafficking machinery involved in GPCR-mediated EGFR transactivation, and is an attractive therapeutic target for cancer.
      Title: Human rhomboid family-1 modulates clathrin coated vesicle-dependent pro-transforming growth factor α membrane trafficking to promote breast cancer progression.
    9. results explain how loss of the amino terminus in iRhom1 and iRhom2 impairs TNF signaling, despite enhancing ADAM17 activity
      Title: Deletions in the cytoplasmic domain of iRhom1 and iRhom2 promote shedding of the TNF receptor by the protease ADAM17.
    10. The expression of iRhom1 was increased by endoplasmic reticulum (ER) stressors, such as thapsigargin and tunicamycin, leading to the enhancement of proteasome activity, especially in ER-containing microsomes.
      Title: iRhom1 regulates proteasome activity via PAC1/2 under ER stress.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    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

    • FLJ2235, FLJ22357

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables growth factor binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    NOT enables serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    NOT enables serine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of protein secretion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of epidermal growth factor receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of epidermal growth factor receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of proteasomal protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of protein secretion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of protein secretion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    inactive rhomboid protein 1
    Names
    epidermal growth factor receptor, related sequence
    epidermal growth factor receptor-related protein
    iRhom1
    p100hRho
    rhomboid family 1
    rhomboid family member 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_022450.5 → NP_071895.3  inactive rhomboid protein 1

      See identical proteins and their annotated locations for NP_071895.3

      Status: VALIDATED

      Source sequence(s)
      KF511222, KF511226, Z69719, Z69720
      Consensus CDS
      CCDS32344.1
      UniProtKB/Swiss-Prot
      Q04842, Q1W6H2, Q4TT59, Q96CC6, Q96S34, Q9H6E1
      Related
      ENSP00000262316.5, ENST00000262316.10
      Conserved Domains (2) summary
      pfam01694
      Location:647 → 788
      Rhomboid; Rhomboid family
      pfam12595
      Location:91 → 308
      Rhomboid_SP; Rhomboid serine protease

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      58059..76360 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017023556.2 → XP_016879045.1  inactive rhomboid protein 1 isoform X3

      Conserved Domains (2) summary
      pfam01694
      Location:670 → 811
      Rhomboid; Rhomboid family
      pfam12595
      Location:114 → 331
      Rhomboid_SP; Rhomboid serine protease

    2. XM_047434482.1 → XP_047290438.1  inactive rhomboid protein 1 isoform X6

    3. XM_047434481.1 → XP_047290437.1  inactive rhomboid protein 1 isoform X5

    4. XM_006720921.2 → XP_006720984.1  inactive rhomboid protein 1 isoform X3

      Conserved Domains (2) summary
      pfam01694
      Location:670 → 811
      Rhomboid; Rhomboid family
      pfam12595
      Location:114 → 331
      Rhomboid_SP; Rhomboid serine protease

    5. XM_047434478.1 → XP_047290434.1  inactive rhomboid protein 1 isoform X1

    6. XM_047434479.1 → XP_047290435.1  inactive rhomboid protein 1 isoform X2

    7. XM_047434480.1 → XP_047290436.1  inactive rhomboid protein 1 isoform X4

    8. XM_017023558.1 → XP_016879047.1  inactive rhomboid protein 1 isoform X7

      UniProtKB/TrEMBL
      B3KPT2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      51596..69903 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054313667.1 → XP_054169642.1  inactive rhomboid protein 1 isoform X3

    2. XM_054313670.1 → XP_054169645.1  inactive rhomboid protein 1 isoform X6

    3. XM_054313669.1 → XP_054169644.1  inactive rhomboid protein 1 isoform X5

    4. XM_054313666.1 → XP_054169641.1  inactive rhomboid protein 1 isoform X3

    5. XM_054313664.1 → XP_054169639.1  inactive rhomboid protein 1 isoform X1

    6. XM_054313665.1 → XP_054169640.1  inactive rhomboid protein 1 isoform X2

    7. XM_054313668.1 → XP_054169643.1  inactive rhomboid protein 1 isoform X4

    8. XM_054313671.1 → XP_054169646.1  inactive rhomboid protein 1 isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96CC6.2 GenPept UniProtKB/Swiss-Prot:Q96CC6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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