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

    Gene ID: 84236, updated on 17-Jun-2024

    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; AllianceGenome:HGNC:23081
    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
    Summary
    Enables serine-type endopeptidase activity. Involved in several processes, including cellular response to unfolded protein; membrane protein proteolysis; and positive regulation of protein catabolic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 3.8), thyroid (RPKM 3.6) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RHBDD1 in Genome Data Viewer
    Location:
    2q36.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (226800159..226999210)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (227283017..227481905)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (227664875..227863926)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak4064 silencer Neighboring gene MPRA-validated peak4065 silencer Neighboring gene microRNA 5702 Neighboring gene Sharpr-MPRA regulatory region 3334 Neighboring gene MPRA-validated peak4066 silencer Neighboring gene Sharpr-MPRA regulatory region 11623 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12389 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:227661675-227662624 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12390 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12391 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12392 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12393 Neighboring gene insulin receptor substrate 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:227677874-227678445 Neighboring gene Sharpr-MPRA regulatory region 3963 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17195 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12395 Neighboring gene MPRA-validated peak4067 silencer Neighboring gene small nucleolar RNA SNORA48 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17196 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:227859794-227860993 Neighboring gene collagen type IV alpha 4 chain Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:227929821-227930408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:228028248-228029149 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12397 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:228050272-228050810 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:228055439-228056638 Neighboring gene collagen type IV alpha 3 chain Neighboring gene MFF divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:228185522-228186050 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12398 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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    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
     
    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
     
    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
     
    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 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 4
    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_016860583.1
    XP_047301937.1
    XP_047301938.1
    XP_047301939.1
    XP_047301940.1
    XP_047301941.1
    XP_047301942.1
    XP_047301943.1
    XP_047301944.1
    XP_047301945.1
    XP_047301947.1
    XP_047301948.1
    XP_047301949.1
    XP_047301950.1
    XP_047301951.1
    XP_047301953.1
    XP_047301954.1
    XP_047301955.1
    XP_047301956.1
    XP_047301957.1
    XP_047301958.1
    XP_047301960.1
    XP_047301961.1
    XP_047301962.1
    XP_047301963.1
    XP_054200121.1
    XP_054200122.1
    XP_054200123.1
    XP_054200124.1
    XP_054200125.1
    XP_054200126.1
    XP_054200127.1
    XP_054200128.1
    XP_054200129.1
    XP_054200130.1
    XP_054200131.1
    XP_054200132.1
    XP_054200133.1
    XP_054200134.1
    XP_054200135.1
    XP_054200136.1
    XP_054200137.1
    XP_054200138.1
    XP_054200139.1
    XP_054200140.1
    XP_054200141.1
    XP_054200142.1
    XP_054200143.1
    XP_054200144.1
    XP_054200145.1
    XP_054200146.1
    XP_054200147.1
    XP_054200148.1
    XP_054200149.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      Q495B9, Q53S43, Q5EBM8, Q6P5V8, Q8IV60, Q8TEB9, Q9H057
      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
      UniProtKB/Swiss-Prot
      Q495B9, Q53S43, Q5EBM8, Q6P5V8, Q8IV60, Q8TEB9, Q9H057
      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
      UniProtKB/Swiss-Prot
      Q495B9, Q53S43, Q5EBM8, Q6P5V8, Q8IV60, Q8TEB9, Q9H057
      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
      UniProtKB/Swiss-Prot
      Q495B9, Q53S43, Q5EBM8, Q6P5V8, Q8IV60, Q8TEB9, Q9H057
      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
      Q495B9, Q53S43, Q5EBM8, Q6P5V8, Q8IV60, Q8TEB9, Q9H057
      Related
      ENSP00000344779.3, ENST00000341329.7
      Conserved Domains (1) summary
      cl21536
      Location:64206
      Rhomboid; Rhomboid family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_047445998.1XP_047301954.1  rhomboid-related protein 4 isoform X2

      UniProtKB/Swiss-Prot
      Q495B9, Q53S43, Q5EBM8, Q6P5V8, Q8IV60, Q8TEB9, Q9H057
    2. XM_047445995.1XP_047301951.1  rhomboid-related protein 4 isoform X2

      UniProtKB/Swiss-Prot
      Q495B9, Q53S43, Q5EBM8, Q6P5V8, Q8IV60, Q8TEB9, Q9H057
    3. XM_017005083.2XP_016860572.1  rhomboid-related protein 4 isoform X2

      UniProtKB/Swiss-Prot
      Q495B9, Q53S43, Q5EBM8, Q6P5V8, Q8IV60, Q8TEB9, Q9H057
      Conserved Domains (1) summary
      cl21536
      Location:64206
      Rhomboid; Rhomboid family
    4. XM_017005088.2XP_016860577.1  rhomboid-related protein 4 isoform X2

      UniProtKB/Swiss-Prot
      Q495B9, Q53S43, Q5EBM8, Q6P5V8, Q8IV60, Q8TEB9, Q9H057
      Conserved Domains (1) summary
      cl21536
      Location:64206
      Rhomboid; Rhomboid family
    5. XM_017005085.3XP_016860574.1  rhomboid-related protein 4 isoform X2

      UniProtKB/Swiss-Prot
      Q495B9, Q53S43, Q5EBM8, Q6P5V8, Q8IV60, Q8TEB9, Q9H057
      Conserved Domains (1) summary
      cl21536
      Location:64206
      Rhomboid; Rhomboid family
    6. XM_017005087.3XP_016860576.1  rhomboid-related protein 4 isoform X2

      UniProtKB/Swiss-Prot
      Q495B9, Q53S43, Q5EBM8, Q6P5V8, Q8IV60, Q8TEB9, Q9H057
      Conserved Domains (1) summary
      cl21536
      Location:64206
      Rhomboid; Rhomboid family
    7. XM_017005084.3XP_016860573.1  rhomboid-related protein 4 isoform X2

      UniProtKB/Swiss-Prot
      Q495B9, Q53S43, Q5EBM8, Q6P5V8, Q8IV60, Q8TEB9, Q9H057
      Conserved Domains (1) summary
      cl21536
      Location:64206
      Rhomboid; Rhomboid family
    8. XM_017005090.3XP_016860579.1  rhomboid-related protein 4 isoform X2

      UniProtKB/Swiss-Prot
      Q495B9, Q53S43, Q5EBM8, Q6P5V8, Q8IV60, Q8TEB9, Q9H057
      Conserved Domains (1) summary
      cl21536
      Location:64206
      Rhomboid; Rhomboid family
    9. XM_017005086.3XP_016860575.1  rhomboid-related protein 4 isoform X2

      UniProtKB/Swiss-Prot
      Q495B9, Q53S43, Q5EBM8, Q6P5V8, Q8IV60, Q8TEB9, Q9H057
      Conserved Domains (1) summary
      cl21536
      Location:64206
      Rhomboid; Rhomboid family
    10. XM_017005092.3XP_016860581.1  rhomboid-related protein 4 isoform X2

      UniProtKB/Swiss-Prot
      Q495B9, Q53S43, Q5EBM8, Q6P5V8, Q8IV60, Q8TEB9, Q9H057
      Conserved Domains (1) summary
      cl21536
      Location:64206
      Rhomboid; Rhomboid family
    11. XM_047445999.1XP_047301955.1  rhomboid-related protein 4 isoform X2

      UniProtKB/Swiss-Prot
      Q495B9, Q53S43, Q5EBM8, Q6P5V8, Q8IV60, Q8TEB9, Q9H057
    12. XM_047445997.1XP_047301953.1  rhomboid-related protein 4 isoform X2

      UniProtKB/Swiss-Prot
      Q495B9, Q53S43, Q5EBM8, Q6P5V8, Q8IV60, Q8TEB9, Q9H057
    13. XM_047445981.1XP_047301937.1  rhomboid-related protein 4 isoform X1

    14. XM_047445993.1XP_047301949.1  rhomboid-related protein 4 isoform X1

    15. XM_047445984.1XP_047301940.1  rhomboid-related protein 4 isoform X1

    16. XM_047445987.1XP_047301943.1  rhomboid-related protein 4 isoform X1

    17. XM_047445982.1XP_047301938.1  rhomboid-related protein 4 isoform X1

    18. XM_047445985.1XP_047301941.1  rhomboid-related protein 4 isoform X1

    19. XM_047445989.1XP_047301945.1  rhomboid-related protein 4 isoform X1

    20. XM_047445991.1XP_047301947.1  rhomboid-related protein 4 isoform X1

    21. XM_047445992.1XP_047301948.1  rhomboid-related protein 4 isoform X1

    22. XM_047445983.1XP_047301939.1  rhomboid-related protein 4 isoform X1

    23. XM_047445988.1XP_047301944.1  rhomboid-related protein 4 isoform X1

    24. XM_047445994.1XP_047301950.1  rhomboid-related protein 4 isoform X1

    25. XM_047445986.1XP_047301942.1  rhomboid-related protein 4 isoform X1

    26. XM_047446002.1XP_047301958.1  rhomboid-related protein 4 isoform X3

    27. XM_047446005.1XP_047301961.1  rhomboid-related protein 4 isoform X4

    28. XM_047446001.1XP_047301957.1  rhomboid-related protein 4 isoform X3

    29. XM_017005094.2XP_016860583.1  rhomboid-related protein 4 isoform X3

    30. XM_047446000.1XP_047301956.1  rhomboid-related protein 4 isoform X3

    31. XM_047446004.1XP_047301960.1  rhomboid-related protein 4 isoform X3

    32. XM_047446007.1XP_047301963.1  rhomboid-related protein 4 isoform X5

    33. XM_047446006.1XP_047301962.1  rhomboid-related protein 4 isoform X5

    RNA

    1. XR_007082541.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      227283017..227481905
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344167.1XP_054200142.1  rhomboid-related protein 4 isoform X2

      UniProtKB/Swiss-Prot
      Q495B9, Q53S43, Q5EBM8, Q6P5V8, Q8IV60, Q8TEB9, Q9H057
    2. XM_054344159.1XP_054200134.1  rhomboid-related protein 4 isoform X2

      UniProtKB/Swiss-Prot
      Q495B9, Q53S43, Q5EBM8, Q6P5V8, Q8IV60, Q8TEB9, Q9H057
    3. XM_054344148.1XP_054200123.1  rhomboid-related protein 4 isoform X1

    4. XM_054344163.1XP_054200138.1  rhomboid-related protein 4 isoform X2

      UniProtKB/Swiss-Prot
      Q495B9, Q53S43, Q5EBM8, Q6P5V8, Q8IV60, Q8TEB9, Q9H057
    5. XM_054344147.1XP_054200122.1  rhomboid-related protein 4 isoform X1

    6. XM_054344152.1XP_054200127.1  rhomboid-related protein 4 isoform X1

    7. XM_054344157.1XP_054200132.1  rhomboid-related protein 4 isoform X1

    8. XM_054344150.1XP_054200125.1  rhomboid-related protein 4 isoform X1

    9. XM_054344168.1XP_054200143.1  rhomboid-related protein 4 isoform X3

    10. XM_054344171.1XP_054200146.1  rhomboid-related protein 4 isoform X3

    11. XM_054344174.1XP_054200149.1  rhomboid-related protein 4 isoform X5

    12. XM_054344165.1XP_054200140.1  rhomboid-related protein 4 isoform X2

      UniProtKB/Swiss-Prot
      Q495B9, Q53S43, Q5EBM8, Q6P5V8, Q8IV60, Q8TEB9, Q9H057
    13. XM_054344153.1XP_054200128.1  rhomboid-related protein 4 isoform X1

    14. XM_054344164.1XP_054200139.1  rhomboid-related protein 4 isoform X2

      UniProtKB/Swiss-Prot
      Q495B9, Q53S43, Q5EBM8, Q6P5V8, Q8IV60, Q8TEB9, Q9H057
    15. XM_054344162.1XP_054200137.1  rhomboid-related protein 4 isoform X2

      UniProtKB/Swiss-Prot
      Q495B9, Q53S43, Q5EBM8, Q6P5V8, Q8IV60, Q8TEB9, Q9H057
    16. XM_054344158.1XP_054200133.1  rhomboid-related protein 4 isoform X2

      UniProtKB/Swiss-Prot
      Q495B9, Q53S43, Q5EBM8, Q6P5V8, Q8IV60, Q8TEB9, Q9H057
    17. XM_054344161.1XP_054200136.1  rhomboid-related protein 4 isoform X2

      UniProtKB/Swiss-Prot
      Q495B9, Q53S43, Q5EBM8, Q6P5V8, Q8IV60, Q8TEB9, Q9H057
    18. XM_054344151.1XP_054200126.1  rhomboid-related protein 4 isoform X1

    19. XM_054344146.1XP_054200121.1  rhomboid-related protein 4 isoform X1

    20. XM_054344170.1XP_054200145.1  rhomboid-related protein 4 isoform X3

    21. XM_054344173.1XP_054200148.1  rhomboid-related protein 4 isoform X4

    22. XM_054344172.1XP_054200147.1  rhomboid-related protein 4 isoform X3

    23. XM_054344149.1XP_054200124.1  rhomboid-related protein 4 isoform X1

    24. XM_054344155.1XP_054200130.1  rhomboid-related protein 4 isoform X1

    25. XM_054344169.1XP_054200144.1  rhomboid-related protein 4 isoform X3

    26. XM_054344160.1XP_054200135.1  rhomboid-related protein 4 isoform X2

      UniProtKB/Swiss-Prot
      Q495B9, Q53S43, Q5EBM8, Q6P5V8, Q8IV60, Q8TEB9, Q9H057
    27. XM_054344154.1XP_054200129.1  rhomboid-related protein 4 isoform X1

    28. XM_054344166.1XP_054200141.1  rhomboid-related protein 4 isoform X2

      UniProtKB/Swiss-Prot
      Q495B9, Q53S43, Q5EBM8, Q6P5V8, Q8IV60, Q8TEB9, Q9H057
    29. XM_054344156.1XP_054200131.1  rhomboid-related protein 4 isoform X1

    RNA

    1. XR_008486545.1 RNA Sequence