RHBDD1
Rhomboid-related protein 4
Also known as: DKFZp547E052, RHBL4_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8TEB9
- Gene
- RHBDD1
- Ensembl
- ENSG00000144468
- Chromosome
- 2
- Canonical length
- 315 aa
- Protein class
- Enzymes, Predicted intracellular proteins, Predicted membrane proteins, Transporters
- Subcellular location
- Endoplasmic reticulum
OverviewNCBI Gene
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, Jul 2025]
Canonical amino-acid sequenceUniProt
315 residues, UniProt reviewed canonical sequence.
>Q8TEB9|RHBDD1
1 MQRRSRGINT GLILLLSQIF HVGINNIPPV TLATLALNIW FFLNPQKPLY SSCLSVEKCY
61 QQKDWQRLLL SPLHHADDWH LYFNMASMLW KGINLERRLG SRWFAYVITA FSVLTGVVYL
121 LLQFAVAEFM DEPDFKRSCA VGFSGVLFAL KVLNNHYCPG GFVNILGFPV PNRFACWVEL
181 VAIHLFSPGT SFAGHLAGIL VGLMYTQGPL KKIMEACAGG FSSSVGYPGR QYYFNSSGSS
241 GYQDYYPHGR PDHYEEAPRN YDTYTAGLSE EEQLERALQA SLWDRGNTRN SPPPYGFHLS
301 PEEMRRQRLH RFDSQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RHBDD1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 4
- Mean surface accessibility (rSASA)
- 0.38
- Highest tissue expression
- 35 nTPM
Expression across tissuesHPA
Tissue
- thymus: 35 nTPM
- testis: 16 nTPM
- tonsil: 16 nTPM
- parathyroid gland: 16 nTPM
- lymph node: 15 nTPM
- thyroid gland: 15 nTPM
Single-cell type
- plasma cells: 261 nCPM
- b-cells: 219 nCPM
- podocytes: 167 nCPM
- renal collecting duct intercalated cells: 166 nCPM
- pituitary stem cells: 164 nCPM
- ependymal cells: 161 nCPM
Immune cell
- naive B-cell: 25 nTPM
- memory B-cell: 22 nTPM
- plasmacytoid DC: 21 nTPM
- intermediate monocyte: 20 nTPM
- myeloid DC: 17 nTPM
- T-reg: 16 nTPM
Brain region
- white matter: 72 nTPM
- basal ganglia: 68 nTPM
- thalamus: 63 nTPM
- medulla oblongata: 61 nTPM
- spinal cord: 60 nTPM
- hypothalamus: 57 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.71
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.02
- DepMap mean gene effect
- 0.05
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- apoptotic process
- cellular response to unfolded protein
- cellular response to UV
- ERAD pathway
- membrane protein intracellular domain proteolysis
- membrane protein proteolysis
- membrane protein proteolysis involved in retrograde protein transport, ER to cytosol
- negative regulation of apoptotic process
- positive regulation of protein catabolic process
- positive regulation of protein processing
- positive regulation of secretion
- post-translational protein modification
- spermatid differentiation
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of RHBDD1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads RHBDD1 as an antibody target. Whether an autoantibody or antibody against RHBDD1 could matter depends on whether native RHBDD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RHBDD1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label RHBDD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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