Seroatlas · Human Serome Atlas

RHBDL1

Rhomboid-related protein 1

Also known as: RHBDL, RHBL1_HUMAN, RRP

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: O75783
Gene: RHBDL1
Ensembl: ENSG00000103269
Chromosome: 16
Canonical length: 438 aa
Protein class: Enzymes, Predicted membrane proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

This gene encodes a protein similar to Rhomboid in Drosophila which is involved in signalling in the Spitz/epidermal growth factor receptor/mitogen-activated protein kinase pathway. The Rhomboid family of proteins consists of intramembrane serine proteases containing several transmembrane domains. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

Canonical amino-acid sequenceUniProt

438 residues, UniProt reviewed canonical sequence.

>O75783|RHBDL1
     1  MGRVEDGGTT EELEDWDPGT SALPAPGIKQ GPREQTGTGP LSQKCWEPEP DAPSQPGPAL
    61  WSRGRARTQA LAGGSSLQQL DPENTGFIGA DTFTGLVHSH ELPLDPAKLD MLVALAQSNE
   121  QGQVCYQELV DLISSKRSSS FKRAIANGQR ALPRDGPLDE PGLGVYKRFV RYVAYEILPC
   181  EVDRRWYFYR HRSCPPPVFM ASVTLAQIIV FLCYGARLNK WVLQTYHPEY MKSPLVYHPG
   241  HRARAWRFLT YMFMHVGLEQ LGFNALLQLM IGVPLEMVHG LLRISLLYLA GVLAGSLTVS
   301  ITDMRAPVVG GSGGVYALCS AHLANVVMNW AGMRCPYKLL RMVLALVCMS SEVGRAVWLR
   361  FSPPLPASGP QPSFMAHLAG AVVGVSMGLT ILRSYEERLR DQCGWWVVLL AYGTFLLFAV
   421  FWNVFAYDLL GAHIPPPP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RHBDL1 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: Cell surface
Secreted: No
Transmembrane segments: 7
Mean surface accessibility (rSASA): 0.36
Highest tissue expression: 37 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 37 nTPM
cerebral cortex: 28 nTPM
amygdala: 18 nTPM
hypothalamus: 18 nTPM
hippocampal formation: 15 nTPM
basal ganglia: 14 nTPM

Single-cell type

other brain neurons: 47 nCPM
epididymal basal cells: 39 nCPM
brain excitatory neurons: 38 nCPM
corticotrophs: 37 nCPM
brain inhibitory neurons: 36 nCPM
retinal amacrine cells: 29 nCPM

Immune cell

memory CD4 T-cell: 0.8 nTPM
memory B-cell: 0.5 nTPM
NK-cell: 0.4 nTPM
T-reg: 0.3 nTPM
naive B-cell: 0.1 nTPM
naive CD4 T-cell: 0.1 nTPM

Brain region

cerebral cortex: 29 nTPM
basal ganglia: 23 nTPM
cerebellum: 23 nTPM
white matter: 20 nTPM
hypothalamus: 19 nTPM
amygdala: 19 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): 0.53
gnomAD pLI: 0.32
gnomAD missense Z: 1.22
DepMap mean gene effect: -0.06
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

serine-type endopeptidase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RHBDL1 as an antibody target. Whether an autoantibody or antibody against RHBDL1 could matter depends on whether native RHBDL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RHBDL1 is annotated at the cell surface, where native RHBDL1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label RHBDL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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