Format

Send to:

Choose Destination

RHBDL1 rhomboid like 1 [ Homo sapiens (human) ]

Gene ID: 9028, updated on 18-Aug-2020

Summary

Official Symbol
RHBDL1provided by HGNC
Official Full Name
rhomboid like 1provided by HGNC
Primary source
HGNC:HGNC:10007
See related
Ensembl:ENSG00000103269 MIM:603264
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

Genomic context

See RHBDL1 in Genome Data Viewer
Location:
16p13.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (675671..678271)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (725666..728268)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene WD repeat domain 90 Neighboring gene uncharacterized LOC107984861 Neighboring gene ras homolog family member T2 Neighboring gene long intergenic non-protein coding RNA 2867 Neighboring gene STIP1 homology and U-box containing protein 1 Neighboring gene jumonji domain containing 8

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
proteolysis IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
membrane TAS
Traceable Author Statement
more info
PubMed 

General protein information

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_016879339.1
XP_024306253.1

NCBI Reference Sequences (RefSeq)

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_001278720.2NP_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, ENST00000352681.7
    Conserved Domains (1) summary
    pfam01694
    Location:174328
    Rhomboid; Rhomboid family
  2. NM_001278721.2NP_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:99253
    Rhomboid; Rhomboid family
  3. NM_001318733.2NP_001305662.1  rhomboid-related protein 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    Z92544
    Consensus CDS
    CCDS10418.1
    UniProtKB/Swiss-Prot
    O75783
    Related
    ENSP00000219551.2, ENST00000219551.2
    Conserved Domains (1) summary
    pfam01694
    Location:239393
    Rhomboid; Rhomboid family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    675671..678271
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450485.1XP_024306253.1  rhomboid-related protein 1 isoform X1

    Conserved Domains (1) summary
    cl21536
    Location:239295
    Rhomboid; Rhomboid family
  2. XM_017023849.1XP_016879338.1  rhomboid-related protein 1 isoform X2

  3. XM_017023850.1XP_016879339.1  rhomboid-related protein 1 isoform X3

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.
Support Center