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

Gene ID: 84236, updated on 17-Mar-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
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Try the new Transcript table

Genomic context

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