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Aliases for RHBDL1 Gene

Aliases for RHBDL1 Gene

  • Rhomboid Like 1 2 3 5
  • Rhomboid-Like Protein 1 3 4
  • EC 4 58
  • RHBDL 3 4
  • RRP 3 4
  • Rhomboid, Veinlet-Like 1 (Drosophila) 2
  • Rhomboid (Veinlet, Drosophila)-Like 2
  • Rhomboid, Drosophila, Homolog Of 3
  • Rhomboid-Related Protein 1 3
  • Rhomboid, Veinlet-Like 1 3

External Ids for RHBDL1 Gene

Previous HGNC Symbols for RHBDL1 Gene


Previous GeneCards Identifiers for RHBDL1 Gene

  • GC16P000665
  • GC16P000666
  • GC16P000725
  • GC16P000650
  • GC16P000690
  • GC16P000837
  • GC16P000865
  • GC16P000888
  • GC16P000906
  • GC16P000926

Summaries for RHBDL1 Gene

Entrez Gene Summary for RHBDL1 Gene

  • 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]

GeneCards Summary for RHBDL1 Gene

RHBDL1 (Rhomboid Like 1) is a Protein Coding gene. Diseases associated with RHBDL1 include Spastic Paraplegia 7, Autosomal Recessive and Optic Atrophy Plus Syndrome. GO annotations related to this gene include calcium ion binding and serine-type endopeptidase activity. An important paralog of this gene is RHBDL3.

UniProtKB/Swiss-Prot for RHBDL1 Gene

  • May be involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors.

Additional gene information for RHBDL1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RHBDL1 Gene

Genomics for RHBDL1 Gene

Regulatory Elements for RHBDL1 Gene

Enhancers for RHBDL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H000640 1.4 ENCODE dbSUPER 18.2 -30.1 -30111 10.1 HDGF FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 LUC7L IFT140 UBE2I CRAMP1 WDR90 WDR24 WFIKKN1 TELO2 ENSG00000262528 UNKL
GH16H000659 1.4 Ensembl ENCODE dbSUPER 18.1 -14.7 -14711 2.7 HDAC1 TBP HDGF RB1 NFIB ZNF2 RAD21 GLIS2 SCRT2 ZNF143 METTL26 WFIKKN1 RHBDL1 ENSG00000262528 RHOT2
GH16H000628 1.4 Ensembl ENCODE dbSUPER 7.7 -44.0 -44003 6.1 ARID4B YY1 GLIS2 SP3 SP5 ZNF623 ZNF592 ZNF610 GLIS1 MXD3 WFIKKN1 RAB40C RHBDL1 NARFL METTL26
GH16H000635 1.4 ENCODE dbSUPER 4.9 -38.6 -38594 4.1 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 METTL26 WDR90 CRAMP1 WFIKKN1 JMJD8 ENSG00000261505 UBE2I TELO2 NARFL ENSG00000226890
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RHBDL1 on UCSC Golden Path with GeneCards custom track

Promoters for RHBDL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000279385 134 401 HDAC1 ATF1 RB1 BACH1 CTBP1 POLR2A EGR1 ATF7 MTA2 ZNF740

Transcription factor binding sites by QIAGEN in the RHBDL1 gene promoter:

Genomic Locations for RHBDL1 Gene

Genomic Locations for RHBDL1 Gene
2,606 bases
Plus strand

Genomic View for RHBDL1 Gene

Genes around RHBDL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RHBDL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RHBDL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RHBDL1 Gene

Proteins for RHBDL1 Gene

  • Protein details for RHBDL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Rhomboid-related protein 1
    Protein Accession:
    Secondary Accessions:
    • A2IDC0
    • A2IDC1
    • Q0VAX4
    • Q9NQ85

    Protein attributes for RHBDL1 Gene

    438 amino acids
    Molecular mass:
    48314 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RHBDL1 Gene


neXtProt entry for RHBDL1 Gene

Selected DME Specific Peptides for RHBDL1 Gene


Post-translational modifications for RHBDL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RHBDL1 Gene

Domains & Families for RHBDL1 Gene

Gene Families for RHBDL1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for RHBDL1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peptidase S54 family.
  • Belongs to the peptidase S54 family.
genes like me logo Genes that share domains with RHBDL1: view

Function for RHBDL1 Gene

Molecular function for RHBDL1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Cleaves type-1 transmembrane domains using a catalytic dyad composed of serine and histidine that are contributed by different transmembrane domains.
UniProtKB/Swiss-Prot Function:
May be involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors.

Enzyme Numbers (IUBMB) for RHBDL1 Gene

Gene Ontology (GO) - Molecular Function for RHBDL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IBA --
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with RHBDL1: view
genes like me logo Genes that share phenotypes with RHBDL1: view

Animal Models for RHBDL1 Gene

MGI Knock Outs for RHBDL1:

Animal Model Products

miRNA for RHBDL1 Gene

miRTarBase miRNAs that target RHBDL1

Inhibitory RNA Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RHBDL1 Gene

Localization for RHBDL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RHBDL1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RHBDL1 gene
Compartment Confidence
plasma membrane 5
mitochondrion 2
nucleus 2
cytosol 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RHBDL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane TAS 9662444
GO:0016020 membrane TAS 9662444
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with RHBDL1: view

Pathways & Interactions for RHBDL1 Gene

SuperPathways for RHBDL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RHBDL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0007165 signal transduction TAS 9662444
GO:0016485 protein processing IBA --
genes like me logo Genes that share ontologies with RHBDL1: view

No data available for Pathways by source and SIGNOR curated interactions for RHBDL1 Gene

Drugs & Compounds for RHBDL1 Gene

No Compound Related Data Available

Transcripts for RHBDL1 Gene

Unigene Clusters for RHBDL1 Gene

Rhomboid, veinlet-like 1 (Drosophila):
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for RHBDL1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b
SP1: - -
SP2: - - -
SP3: -

Relevant External Links for RHBDL1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for RHBDL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RHBDL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RHBDL1 Gene

This gene is overexpressed in Brain - Cerebellum (x6.9), Brain - Cerebellar Hemisphere (x6.1), and Brain - Cortex (x4.6).

Protein differential expression in normal tissues from HIPED for RHBDL1 Gene

This gene is overexpressed in Frontal cortex (38.5) and Retina (30.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RHBDL1 Gene

Protein tissue co-expression partners for RHBDL1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RHBDL1 Gene:


SOURCE GeneReport for Unigene cluster for RHBDL1 Gene:


mRNA Expression by UniProt/SwissProt for RHBDL1 Gene:

Tissue specificity: Detected in heart, brain, skeletal muscle and kidney.
genes like me logo Genes that share expression patterns with RHBDL1: view

Primer Products

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for RHBDL1 Gene

Orthologs for RHBDL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RHBDL1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia RHBDL1 33 34
  • 99.63 (n)
(Ornithorhynchus anatinus)
Mammalia RHBDL1 34
  • 93 (a)
(Bos Taurus)
Mammalia RHBDL1 33 34
  • 92.05 (n)
(Canis familiaris)
Mammalia RHBDL1 33 34
  • 91.37 (n)
(Mus musculus)
Mammalia Rhbdl1 33 16 34
  • 90.35 (n)
(Rattus norvegicus)
Mammalia Rhbdl1 33
  • 90.26 (n)
(Monodelphis domestica)
Mammalia RHBDL1 34
  • 90 (a)
(Gallus gallus)
Aves RHBDL1 33 34
  • 87.46 (n)
(Anolis carolinensis)
Reptilia RHBDL1 34
  • 90 (a)
(Danio rerio)
Actinopterygii rhbdl1 33 34
  • 76.16 (n)
fruit fly
(Drosophila melanogaster)
Insecta ru 34
  • 31 (a)
rho 34
  • 29 (a)
rho-4 34
  • 26 (a)
stet 34
  • 25 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 40 (a)
Species where no ortholog for RHBDL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RHBDL1 Gene

Gene Tree for RHBDL1 (if available)
Gene Tree for RHBDL1 (if available)

Paralogs for RHBDL1 Gene

Paralogs for RHBDL1 Gene

(2) SIMAP similar genes for RHBDL1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with RHBDL1: view

Variants for RHBDL1 Gene

Sequence variations from dbSNP and Humsavar for RHBDL1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1000019896 -- 675,919(+) TCCCC(A/G)AAAGC intron-variant, upstream-variant-2KB
rs1000246681 -- 675,286(+) GAGCT(C/T)CAGCC upstream-variant-2KB
rs1000456455 -- 675,529(+) GTGGG(G/T)GCCGG upstream-variant-2KB
rs1001041769 -- 674,739(+) CCTTC(C/T)CAAGT upstream-variant-2KB
rs1001430399 -- 674,854(+) GGACT(A/G)CTGCA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for RHBDL1 Gene

Variant ID Type Subtype PubMed ID
nsv952898 CNV deletion 24416366
nsv9321 CNV gain+loss 18304495
nsv827481 CNV gain 20364138
nsv827480 CNV gain 20364138
nsv571016 CNV loss 21841781
nsv571012 CNV loss 21841781
nsv526903 CNV loss 19592680
nsv516590 CNV loss 19592680
nsv471065 CNV gain 18288195
nsv471063 CNV loss 18288195
nsv457310 CNV loss 19166990
nsv1160326 CNV duplication 26073780
nsv1160325 CNV duplication 26073780
esv2422427 CNV duplication 17116639
dgv4825n54 CNV loss 21841781

Variation tolerance for RHBDL1 Gene

Residual Variation Intolerance Score: 19.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.00; 20.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RHBDL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RHBDL1 Gene

Disorders for RHBDL1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for RHBDL1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
spastic paraplegia 7, autosomal recessive
  • hereditary spastic paraplegia
optic atrophy plus syndrome
  • optic atrophy
leber optic atrophy
  • leber hereditary optic neuropathy
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for RHBDL1

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with RHBDL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RHBDL1 Gene

Publications for RHBDL1 Gene

  1. Characterization of a mammalian cDNA encoding a protein with high sequence similarity to the Drosophila regulatory protein Rhomboid. (PMID: 9662444) Pascall JC … Brown KD (FEBS letters 1998) 2 3 4 22 60
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  3. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PMID: 11157797) Daniels RJ … Higgs DR (Human molecular genetics 2001) 3 4 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60

Products for RHBDL1 Gene

Sources for RHBDL1 Gene

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