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RHBDD1 rhomboid domain containing 1 [ Homo sapiens (human) ]

Gene ID: 84236, updated on 23-Nov-2021

Summary

Official Symbol
RHBDD1provided by HGNC
Official Full Name
rhomboid domain containing 1provided by HGNC
Primary source
HGNC:HGNC:23081
See related
Ensembl:ENSG00000144468 MIM:617515
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
RRP4; RHBDL4
Expression
Ubiquitous expression in testis (RPKM 3.8), thyroid (RPKM 3.6) and 25 other tissues See more
Orthologs
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Genomic context

See RHBDD1 in Genome Data Viewer
Location:
2q36.3
Exon count:
15
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (226800159..226999210)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (227664875..227863926)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 3334 Neighboring gene Sharpr-MPRA regulatory region 11623 Neighboring gene insulin receptor substrate 1 Neighboring gene Sharpr-MPRA regulatory region 3963 Neighboring gene collagen type IV alpha 4 chain Neighboring gene collagen type IV alpha 3 chain Neighboring gene MFF divergent transcript Neighboring gene stress induced phosphoprotein 1 pseudogene 2 Neighboring gene mitochondrial fission factor

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Framingham Heart Study genome-wide association: results for pulmonary function measures.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ45341, FLJ46780, MGC117258, DKFZp547E052

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in ERAD pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to UV ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to unfolded protein IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cellular response to unfolded protein IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in cellular response to unfolded protein ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in membrane protein intracellular domain proteolysis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in membrane protein proteolysis involved in retrograde protein transport, ER to cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of protein processing ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in post-translational protein modification ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT involved_in regulation of male germ cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in spermatid differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in endoplasmic reticulum quality control compartment ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in integral component of endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in mitochondrial membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
rhomboid-related protein 4
Names
rhomboid domain-containing protein 1
rhomboid-like protein 4
NP_001161080.1
NP_001335998.1
NP_001336000.1
NP_001336001.1
NP_115652.2
XP_016860572.1
XP_016860573.1
XP_016860574.1
XP_016860575.1
XP_016860576.1
XP_016860577.1
XP_016860579.1
XP_016860581.1
XP_016860582.1
XP_016860583.1
XP_016860584.1

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_001167608.3NP_001161080.1  rhomboid-related protein 4

    See identical proteins and their annotated locations for NP_001161080.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-5 encode the same protein.
    Source sequence(s)
    AC010735, AC073149, CA434330, DB024396
    Consensus CDS
    CCDS2464.1
    UniProtKB/Swiss-Prot
    Q8TEB9
    UniProtKB/TrEMBL
    A0A024R455
    Related
    ENSP00000375914.2, ENST00000392062.7
    Conserved Domains (1) summary
    cl21536
    Location:64206
    Rhomboid; Rhomboid family
  2. NM_001349069.2NP_001335998.1  rhomboid-related protein 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-5 encode the same protein.
    Source sequence(s)
    AC010735, AC073149, CA434330
    Consensus CDS
    CCDS2464.1
    Conserved Domains (1) summary
    cl21536
    Location:64206
    Rhomboid; Rhomboid family
  3. NM_001349071.2NP_001336000.1  rhomboid-related protein 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1-5 encode the same protein.
    Source sequence(s)
    AC010735, AC073149, CA434330
    Consensus CDS
    CCDS2464.1
    Conserved Domains (1) summary
    cl21536
    Location:64206
    Rhomboid; Rhomboid family
  4. NM_001349072.2NP_001336001.1  rhomboid-related protein 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1-5 encode the same protein.
    Source sequence(s)
    AC010735, AC073149, CA434330
    Consensus CDS
    CCDS2464.1
    Conserved Domains (1) summary
    cl21536
    Location:64206
    Rhomboid; Rhomboid family
  5. NM_032276.5NP_115652.2  rhomboid-related protein 4

    See identical proteins and their annotated locations for NP_115652.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) and variants 2-5 encode the same protein.
    Source sequence(s)
    AC010735, AC073149, AK074258, CA434330
    Consensus CDS
    CCDS2464.1
    UniProtKB/Swiss-Prot
    Q8TEB9
    UniProtKB/TrEMBL
    A0A024R455
    Related
    ENSP00000344779.3, ENST00000341329.7
    Conserved Domains (1) summary
    cl21536
    Location:64206
    Rhomboid; Rhomboid family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    226800159..226999210
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017005094.1XP_016860583.1  rhomboid-related protein 4 isoform X2

  2. XM_017005085.2XP_016860574.1  rhomboid-related protein 4 isoform X1

    UniProtKB/Swiss-Prot
    Q8TEB9
    UniProtKB/TrEMBL
    A0A024R455
    Conserved Domains (1) summary
    cl21536
    Location:64206
    Rhomboid; Rhomboid family
  3. XM_017005087.2XP_016860576.1  rhomboid-related protein 4 isoform X1

    UniProtKB/Swiss-Prot
    Q8TEB9
    UniProtKB/TrEMBL
    A0A024R455
    Conserved Domains (1) summary
    cl21536
    Location:64206
    Rhomboid; Rhomboid family
  4. XM_017005084.2XP_016860573.1  rhomboid-related protein 4 isoform X1

    UniProtKB/Swiss-Prot
    Q8TEB9
    UniProtKB/TrEMBL
    A0A024R455
    Conserved Domains (1) summary
    cl21536
    Location:64206
    Rhomboid; Rhomboid family
  5. XM_017005092.2XP_016860581.1  rhomboid-related protein 4 isoform X1

    UniProtKB/Swiss-Prot
    Q8TEB9
    UniProtKB/TrEMBL
    A0A024R455
    Conserved Domains (1) summary
    cl21536
    Location:64206
    Rhomboid; Rhomboid family
  6. XM_017005090.2XP_016860579.1  rhomboid-related protein 4 isoform X1

    UniProtKB/Swiss-Prot
    Q8TEB9
    UniProtKB/TrEMBL
    A0A024R455
    Conserved Domains (1) summary
    cl21536
    Location:64206
    Rhomboid; Rhomboid family
  7. XM_017005086.2XP_016860575.1  rhomboid-related protein 4 isoform X1

    UniProtKB/Swiss-Prot
    Q8TEB9
    UniProtKB/TrEMBL
    A0A024R455
    Conserved Domains (1) summary
    cl21536
    Location:64206
    Rhomboid; Rhomboid family
  8. XM_017005083.1XP_016860572.1  rhomboid-related protein 4 isoform X1

    UniProtKB/Swiss-Prot
    Q8TEB9
    UniProtKB/TrEMBL
    A0A024R455
    Conserved Domains (1) summary
    cl21536
    Location:64206
    Rhomboid; Rhomboid family
  9. XM_017005088.1XP_016860577.1  rhomboid-related protein 4 isoform X1

    UniProtKB/Swiss-Prot
    Q8TEB9
    UniProtKB/TrEMBL
    A0A024R455
    Conserved Domains (1) summary
    cl21536
    Location:64206
    Rhomboid; Rhomboid family
  10. XM_017005093.1XP_016860582.1  rhomboid-related protein 4 isoform X2

  11. XM_017005095.1XP_016860584.1  rhomboid-related protein 4 isoform X3

RNA

  1. XR_001738988.2 RNA Sequence

  2. XR_001738984.2 RNA Sequence

  3. XR_001738990.2 RNA Sequence

  4. XR_001738985.2 RNA Sequence

  5. XR_001738987.2 RNA Sequence

  6. XR_001738983.2 RNA Sequence

  7. XR_001738991.2 RNA Sequence

  8. XR_001738982.2 RNA Sequence

  9. XR_001738989.2 RNA Sequence

  10. XR_001738986.2 RNA Sequence

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