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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
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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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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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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

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