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RHBDL3 rhomboid like 3 [ Homo sapiens (human) ]

Gene ID: 162494, updated on 7-Sep-2023

Summary

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Official Symbol
RHBDL3provided by HGNC
Official Full Name
rhomboid like 3provided by HGNC
Primary source
HGNC:HGNC:16502
See related
Ensembl:ENSG00000141314 MIM:619017; AllianceGenome:HGNC:16502
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
VRHO; RHBDL4
Summary
Predicted to enable serine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in brain (RPKM 5.3), adrenal (RPKM 1.6) and 5 other tissues See more
Orthologs
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Genomic context

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See RHBDL3 in Genome Data Viewer
Location:
17q11.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (32265832..32324661)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (33211602..33270432)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (30592851..30651680)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903979 Neighboring gene uncharacterized LOC105371731 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:30606292-30607064 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:30607065-30607835 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:30607836-30608607 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:30616355-30617002 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:30625397-30626027 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:30629544-30630417 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:30630418-30631290 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:30649649-30650528 Neighboring gene uncharacterized LOC124903980 Neighboring gene chromosome 17 open reading frame 75 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:30668873-30669759 Neighboring gene oocyte secreted protein 1 pseudogene 2 Neighboring gene microRNA 632 Neighboring gene zinc finger protein 207

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. The mammalian rhomboid protein RHBDL4 protects against endoplasmic reticulum stress by regulating the morphology and distribution of ER sheets. Lastun VL, et al. J Biol Chem, 2022 Jun. PMID 35436469, Free PMC Article
  2. Cloning and expression of Ventrhoid, a novel vertebrate homologue of the Drosophila EGF pathway gene rhomboid. Jászai J, et al. Mech Dev, 2002 Apr. PMID 11900977
  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. Ubiquitin-dependent intramembrane rhomboid protease promotes ERAD of membrane proteins. Fleig L, et al. Mol Cell, 2012 Aug 24. PMID 22795130

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The mammalian rhomboid protein RHBDL4 protects against endoplasmic reticulum stress by regulating the morphology and distribution of ER sheets.
    Title: The mammalian rhomboid protein RHBDL4 protects against endoplasmic reticulum stress by regulating the morphology and distribution of ER sheets.
Submit: New GeneRIF Correction

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

Clone Names

  • FLJ45582, MGC119300, MGC119301

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Process Evidence Code Pubs
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
rhomboid-related protein 3
Names
rhomboid, veinlet-like 3
rhomboid, veinlet-like 4
ventrhoid transmembrane protein
NP_001317110.1
NP_001350763.1
NP_001350764.1
NP_001350765.1
NP_612201.1
XP_006721797.1
XP_016879762.1
XP_016879763.1
XP_016879764.1
XP_016879765.1
XP_016879766.1
XP_016879767.1
XP_016879769.1
XP_047291463.1
XP_054171249.1
XP_054171250.1
XP_054171251.1
XP_054171252.1
XP_054171253.1
XP_054171254.1
XP_054171255.1
XP_054171256.1
XP_054171257.1

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_001330181.2 → NP_001317110.1  rhomboid-related protein 3 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC026620, AJ313480, AK124570, AK127490, BC016953, BC100977
    Consensus CDS
    CCDS82103.1
    UniProtKB/Swiss-Prot
    P58872
    Related
    ENSP00000442092.1, ENST00000538145.5
    Conserved Domains (2) summary
    pfam01694
    Location:197 → 351
    Rhomboid; Rhomboid family
    pfam13499
    Location:38 → 92
    EF-hand_7; EF-hand domain pair

  2. NM_001363834.1 → NP_001350763.1  rhomboid-related protein 3 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC005899, AC026620
    Conserved Domains (1) summary
    pfam01694
    Location:144 → 298
    Rhomboid; Rhomboid family

  3. NM_001363835.1 → NP_001350764.1  rhomboid-related protein 3 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC005899, BC100976
    UniProtKB/TrEMBL
    A4FU16, E9PD28
    Related
    ENSP00000394849.2, ENST00000431505.6
    Conserved Domains (3) summary
    pfam13499
    Location:36 → 100
    EF-hand_7; EF-hand domain pair
    cd15897
    Location:38 → 67
    EFh_PEF; EF-hand motif [structural motif]
    cl21536
    Location:205 → 260
    Rhomboid; Rhomboid family

  4. NM_001363836.1 → NP_001350765.1  rhomboid-related protein 3 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC005899, BC100978
    Consensus CDS
    CCDS92287.1
    Related
    ENSP00000466508.1, ENST00000536287.2
    Conserved Domains (1) summary
    pfam01694
    Location:107 → 261
    Rhomboid; Rhomboid family

  5. NM_138328.3 → NP_612201.1  rhomboid-related protein 3 isoform 1

    See identical proteins and their annotated locations for NP_612201.1

    Status: VALIDATED

    Source sequence(s)
    AC026620, AJ313480, AK124570, AK127490, BC016953
    Consensus CDS
    CCDS32613.1
    UniProtKB/Swiss-Prot
    A6NMH1, P58872, Q495Y4, Q495Y5, Q495Y6
    Related
    ENSP00000269051.4, ENST00000269051.9
    Conserved Domains (2) summary
    pfam01694
    Location:205 → 359
    Rhomboid; Rhomboid family
    pfam13499
    Location:36 → 100
    EF-hand_7; EF-hand domain pair

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    32265832..32324661
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047435507.1 → XP_047291463.1  rhomboid-related protein 3 isoform X6

  2. XM_017024275.2 → XP_016879764.1  rhomboid-related protein 3 isoform X3

    UniProtKB/TrEMBL
    A4FU16, E9PD28

  3. XM_017024273.2 → XP_016879762.1  rhomboid-related protein 3 isoform X1

    UniProtKB/TrEMBL
    A4FU16, E9PD28

  4. XM_017024276.2 → XP_016879765.1  rhomboid-related protein 3 isoform X4

    UniProtKB/TrEMBL
    A4FU16, E9PD28

  5. XM_006721734.4 → XP_006721797.1  rhomboid-related protein 3 isoform X5

    Conserved Domains (2) summary
    pfam01694
    Location:163 → 317
    Rhomboid; Rhomboid family
    cl08302
    Location:4 → 58
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

  6. XM_017024274.2 → XP_016879763.1  rhomboid-related protein 3 isoform X2

    UniProtKB/TrEMBL
    A4FU16, E9PD28

  7. XM_017024278.2 → XP_016879767.1  rhomboid-related protein 3 isoform X7

  8. XM_017024277.2 → XP_016879766.1  rhomboid-related protein 3 isoform X7

  9. XM_017024280.2 → XP_016879769.1  rhomboid-related protein 3 isoform X8

RNA

  1. XR_001752439.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    33211602..33270432
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054315279.1 → XP_054171254.1  rhomboid-related protein 3 isoform X6

  2. XM_054315276.1 → XP_054171251.1  rhomboid-related protein 3 isoform X3

    UniProtKB/TrEMBL
    A4FU16, E9PD28

  3. XM_054315274.1 → XP_054171249.1  rhomboid-related protein 3 isoform X1

    UniProtKB/TrEMBL
    A4FU16, E9PD28

  4. XM_054315277.1 → XP_054171252.1  rhomboid-related protein 3 isoform X4

    UniProtKB/TrEMBL
    A4FU16, E9PD28

  5. XM_054315278.1 → XP_054171253.1  rhomboid-related protein 3 isoform X5

  6. XM_054315275.1 → XP_054171250.1  rhomboid-related protein 3 isoform X2

    UniProtKB/TrEMBL
    A4FU16, E9PD28

  7. XM_054315281.1 → XP_054171256.1  rhomboid-related protein 3 isoform X7

  8. XM_054315280.1 → XP_054171255.1  rhomboid-related protein 3 isoform X7

  9. XM_054315282.1 → XP_054171257.1  rhomboid-related protein 3 isoform X8

RNA

  1. XR_008484792.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P58872.1 GenPept UniProtKB/Swiss-Prot:P58872

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