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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 3.4.21.105 4 56
  • 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

  • RHBDL

Previous GeneCards Identifiers for RHBDL1 Gene

  • GC16P000665
  • GC16P000666
  • GC16P000725
  • GC16P000650
  • GC16P000690
  • GC16P000837
  • GC16P000865
  • GC16P000888
  • GC16P000906
  • GC16P000926
  • GC16P000945

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 3-Methylglutaconic Aciduria, Type Iii. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for RHBDL1 Gene

Promoters and enhancers for RHBDL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I000674 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 556.1 -0.4 -381 2.2 HDGF ATF1 ARNT SIN3A ZNF48 GTF3C2 POLR2B ZNF143 ATF7 NCOA1 RHBDL1 ENSG00000261505 ENSG00000260051 TELO2 ENSG00000260954 RHOT2 ENSG00000262528 WASH4P WDR90 JMJD8
GH16I000676 Enhancer 0.7 ENCODE 550.8 +1.7 1720 1.5 SCRT1 KLF1 RFX1 ZBTB6 SIN3A ZEB2 BMI1 HIC1 FOXM1 ZFP69B ENSG00000279441 RHBDL1 JMJD8
GH16I000640 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 18.3 -30.1 -30111 10.1 HDGF FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 WDR90 GC16P000998 MCRIP2 IFT140 LUC7L ENSG00000262528 WFIKKN1 CRAMP1 UBE2I RHBDL1
GH16I000666 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 17.4 -7.4 -7389 3 HDGF PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 YY1 POLR2B RHOT2 METTL26 WFIKKN1 RHBDL1 ENSG00000262528 LMF1 WDR90
GH16I000659 Enhancer 1.3 Ensembl ENCODE dbSUPER 18.1 -14.7 -14710 2.7 HDGF ZNF2 GLIS2 ZNF143 SP3 REST SMARCB1 ZNF592 GMEB1 SMARCA4 METTL26 WFIKKN1 RHBDL1 ENSG00000262528 RHOT2 WDR90
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RHBDL1 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for RHBDL1 Gene

Genomic Locations for RHBDL1 Gene
chr16:675,666-678,271
(GRCh38/hg38)
Size:
2,606 bases
Orientation:
Plus strand
chr16:725,666-728,268
(GRCh37/hg19)

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:
    O75783-RHBL1_HUMAN
    Recommended name:
    Rhomboid-related protein 1
    Protein Accession:
    O75783
    Secondary Accessions:
    • A2IDC0
    • A2IDC1
    • Q0VAX4
    • Q9NQ85

    Protein attributes for RHBDL1 Gene

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

    Alternative splice isoforms for RHBDL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RHBDL1 Gene

Selected DME Specific Peptides for RHBDL1 Gene

O75783:
  • GVPLEMVHG
  • GRAVWLRF

Post-translational modifications for RHBDL1 Gene

No Post-translational modifications

Other Protein References for RHBDL1 Gene

Domains & Families for RHBDL1 Gene

Gene Families for RHBDL1 Gene

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

Suggested Antigen Peptide Sequences for RHBDL1 Gene

Graphical View of Domain Structure for InterPro Entry

O75783

UniProtKB/Swiss-Prot:

RHBL1_HUMAN :
  • Belongs to the peptidase S54 family.
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

Phenotypes From GWAS Catalog 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 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

COMPARTMENTS
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: -
SP4:

Relevant External Links for RHBDL1 Gene

GeneLoc Exon Structure for
RHBDL1
ECgene alternative splicing isoforms for
RHBDL1

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:

RHBDL1

SOURCE GeneReport for Unigene cluster for RHBDL1 Gene:

Hs.137572

mRNA Expression by UniProt/SwissProt for RHBDL1 Gene:

O75783-RHBL1_HUMAN
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
chimpanzee
(Pan troglodytes)
Mammalia RHBDL1 33 34
  • 99.63 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RHBDL1 34
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RHBDL1 33 34
  • 92.05 (n)
dog
(Canis familiaris)
Mammalia RHBDL1 33 34
  • 91.37 (n)
mouse
(Mus musculus)
Mammalia Rhbdl1 33 16 34
  • 90.35 (n)
rat
(Rattus norvegicus)
Mammalia Rhbdl1 33
  • 90.26 (n)
oppossum
(Monodelphis domestica)
Mammalia RHBDL1 34
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves RHBDL1 33 34
  • 87.46 (n)
lizard
(Anolis carolinensis)
Reptilia RHBDL1 34
  • 90 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii rhbdl1 33 34
  • 76.16 (n)
fruit fly
(Drosophila melanogaster)
Insecta ru 34
  • 31 (a)
ManyToMany
rho 34
  • 29 (a)
ManyToMany
rho-4 34
  • 26 (a)
ManyToMany
stet 34
  • 25 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 40 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for RHBDL1 (if available)
TreeFam:
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 Variation AA Info Type
rs1000019896 -- 675,919(+) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000246681 -- 675,286(+) C/T upstream_transcript_variant
rs1000456455 -- 675,529(+) G/T upstream_transcript_variant
rs1001041769 -- 674,739(+) C/T upstream_transcript_variant
rs1001430399 -- 674,854(+) A/G upstream_transcript_variant

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

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

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)

Additional Variant Information for RHBDL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RHBDL1

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

Disorders for RHBDL1 Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RHBDL1

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 58
  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 58
  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 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for RHBDL1 Gene

Sources for RHBDL1 Gene

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