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RHBDL1 rhomboid like 1 [ Homo sapiens (human) ]

Gene ID: 9028, updated on 5-Mar-2024

Summary

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Official Symbol
RHBDL1provided by HGNC
Official Full Name
rhomboid like 1provided by HGNC
Primary source
HGNC:HGNC:10007
See related
Ensembl:ENSG00000103269 MIM:603264; AllianceGenome:HGNC:10007
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RRP; RHBDL
Summary
This gene encodes a protein similar to Rhomboid in Drosophila which is involved in signalling in the Spitz/epidermal growth factor receptor/mitogen-activated protein kinase pathway. The Rhomboid family of proteins consists of intramembrane serine proteases containing several transmembrane domains. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
Expression
Broad expression in brain (RPKM 2.4), kidney (RPKM 1.5) and 21 other tissues See more
Orthologs
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Genomic context

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Location:
16p13.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (675671..678268)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (679746..682343)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (725671..728268)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371038 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:699402-700224 Neighboring gene WD repeat domain 90 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:709386-710276 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:717843-718524 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6937 Neighboring gene ras homolog family member T2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:724963-725497 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6938 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6939 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6940 Neighboring gene STUB1 divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:731189-731776 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:731777-732364 Neighboring gene STIP1 homology and U-box containing protein 1 Neighboring gene jumonji domain containing 8

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
  • 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. Rhomboid proteins: a role in keratinocyte proliferation and cancer. Etheridge SL, et al. Cell Tissue Res, 2013 Feb. PMID 23263464
  2. Characterization of a mammalian cDNA encoding a protein with high sequence similarity to the Drosophila regulatory protein Rhomboid. Pascall JC, et al. FEBS Lett, 1998 Jun 16. PMID 9662444
  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. The rhomboid-like superfamily: molecular mechanisms and biological roles. Freeman M. Annu Rev Cell Dev Biol, 2014. PMID 25062361

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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
  
involved_in signal transduction TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in membrane TAS
Traceable Author Statement
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
rhomboid-related protein 1
Names
rhomboid, drosophila, homolog of
rhomboid, veinlet-like 1
rhomboid-like protein 1
NP_001265649.1
NP_001265650.1
NP_001305662.1
XP_016879338.1
XP_047290817.1
XP_054170284.1
XP_054170285.1

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_001278720.2 → NP_001265649.1  rhomboid-related protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001265649.1

    Status: REVIEWED

    Source sequence(s)
    BI600093, BM674847, Y17108
    Consensus CDS
    CCDS61779.1
    UniProtKB/Swiss-Prot
    O75783
    Related
    ENSP00000344206.3, ENST00000352681.8
    Conserved Domains (1) summary
    pfam01694
    Location:174 → 328
    Rhomboid; Rhomboid family

  2. NM_001278721.2 → NP_001265650.1  rhomboid-related protein 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    BC120875, BI544995, BI600093, BM674847, Y17108
    UniProtKB/Swiss-Prot
    O75783
    Conserved Domains (1) summary
    pfam01694
    Location:99 → 253
    Rhomboid; Rhomboid family

  3. NM_001318733.2 → NP_001305662.1  rhomboid-related protein 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    Z92544
    Consensus CDS
    CCDS10418.1
    UniProtKB/Swiss-Prot
    A2IDC0, A2IDC1, O75783, Q0VAX4, Q9NQ85
    Related
    ENSP00000219551.2, ENST00000219551.2
    Conserved Domains (1) summary
    pfam01694
    Location:239 → 393
    Rhomboid; Rhomboid family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    675671..678268
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047434861.1 → XP_047290817.1  rhomboid-related protein 1 isoform X2

  2. XM_017023849.2 → XP_016879338.1  rhomboid-related protein 1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    679746..682343
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054314310.1 → XP_054170285.1  rhomboid-related protein 1 isoform X2

  2. XM_054314309.1 → XP_054170284.1  rhomboid-related protein 1 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_003961.1: Suppressed sequence

    Description
    NM_003961.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75783.1 GenPept UniProtKB/Swiss-Prot:O75783

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