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    RHBDL1 rhomboid like 1 [ Homo sapiens (human) ]

    Gene ID: 9028, updated on 2-Nov-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
    mouse all
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    Genomic context

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    See RHBDL1 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (675671..678268)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (679746..682343)
    RS_2024_09 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 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

    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)

    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_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
      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

    Gene LinkOut

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

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