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RHBDL3 rhomboid like 3 [ Homo sapiens (human) ]

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

Summary

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

Genomic context

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

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

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

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)

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_001330181.2NP_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:197351
    Rhomboid; Rhomboid family
    pfam13499
    Location:3892
    EF-hand_7; EF-hand domain pair
  2. NM_001363834.1NP_001350763.1  rhomboid-related protein 3 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC005899, AC026620
    Conserved Domains (1) summary
    pfam01694
    Location:144298
    Rhomboid; Rhomboid family
  3. NM_001363835.1NP_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:36100
    EF-hand_7; EF-hand domain pair
    cd15897
    Location:3867
    EFh_PEF; EF-hand motif [structural motif]
    cl21536
    Location:205260
    Rhomboid; Rhomboid family
  4. NM_001363836.1NP_001350765.1  rhomboid-related protein 3 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC005899, BC100978
    Conserved Domains (1) summary
    pfam01694
    Location:107261
    Rhomboid; Rhomboid family
  5. NM_138328.3NP_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:205359
    Rhomboid; Rhomboid family
    pfam13499
    Location:36100
    EF-hand_7; EF-hand domain pair
    cd15897
    Location:3867
    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_017024275.1XP_016879764.1  rhomboid-related protein 3 isoform X4

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

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

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

    UniProtKB/Swiss-Prot
    P58872
    Related
    ENSP00000466508.1, ENST00000536287.2
    Conserved Domains (1) summary
    pfam01694
    Location:107261
    Rhomboid; Rhomboid family
  5. XM_006721734.3XP_006721797.1  rhomboid-related protein 3 isoform X6

    Conserved Domains (2) summary
    pfam01694
    Location:163317
    Rhomboid; Rhomboid family
    cl08302
    Location:458
    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_017024274.1XP_016879763.1  rhomboid-related protein 3 isoform X3

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

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

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

RNA

  1. XR_001752439.1 RNA Sequence

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