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RHBDL3 rhomboid like 3 [ Homo sapiens (human) ]

Gene ID: 162494, updated on 1-Jun-2020

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
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
Expression
Biased expression in brain (RPKM 5.3), adrenal (RPKM 1.6) and 5 other tissues See more
Orthologs
mouse all

Genomic context

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See RHBDL3 in Genome Data Viewer
Location:
17q11.2
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (32265832..32324661)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (30593195..30651680)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ras homolog family member T1 Neighboring gene Sharpr-MPRA regulatory region 9359 Neighboring gene uncharacterized LOC105371731 Neighboring gene uncharacterized LOC105371732 Neighboring gene chromosome 17 open reading frame 75 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. 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
  2. Emerging role of rhomboid family proteins in mammalian biology and disease. Bergbold N, et al. Biochim Biophys Acta, 2013 Dec. PMID 23562403
  3. Sampling the membrane: function of rhomboid-family proteins. Lemberg MK. Trends Cell Biol, 2013 May. PMID 23369641
  4. The rhomboid protease family: a decade of progress on function and mechanism. Urban S, et al. Genome Biol, 2011 Oct 27. PMID 22035660, Free PMC Article
  5. Ubiquitin-dependent intramembrane rhomboid protease promotes ERAD of membrane proteins. Fleig L, et al. Mol Cell, 2012 Aug 24. PMID 22795130

See all (9) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

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)

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
calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
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
  
Component Evidence Code Pubs
integral component of 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_016879768.1
XP_016879769.1

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
    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
    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
    P58872
    Related
    ENSP00000269051.4, ENST00000269051.9
    Conserved Domains (3) summary
    pfam01694
    Location:205 → 359
    Rhomboid; Rhomboid family
    pfam13499
    Location:36 → 100
    EF-hand_7; EF-hand domain pair
    cd15897
    Location:38 → 67
    EFh_PEF; EF-hand motif [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017024275.1 → XP_016879764.1  rhomboid-related protein 3 isoform X4

  2. XM_017024273.1 → XP_016879762.1  rhomboid-related protein 3 isoform X2

  3. XM_017024276.1 → XP_016879765.1  rhomboid-related protein 3 isoform X5

  4. XM_017024279.2 → XP_016879768.1  rhomboid-related protein 3 isoform X9

    UniProtKB/Swiss-Prot
    P58872
    Related
    ENSP00000466508.1, ENST00000536287.2
    Conserved Domains (1) summary
    pfam01694
    Location:107 → 261
    Rhomboid; Rhomboid family

  5. XM_006721734.3 → XP_006721797.1  rhomboid-related protein 3 isoform X6

    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_017024274.1 → XP_016879763.1  rhomboid-related protein 3 isoform X3

  7. XM_017024278.1 → XP_016879767.1  rhomboid-related protein 3 isoform X8

  8. XM_017024277.1 → XP_016879766.1  rhomboid-related protein 3 isoform X8

  9. XM_017024280.1 → XP_016879769.1  rhomboid-related protein 3 isoform X10

RNA

  1. XR_001752439.1 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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