Seroatlas · Human Serome Atlas

RHBDF1

Inactive rhomboid protein 1

Also known as: C16orf8, Dist1, EGFR-RS, FLJ2235, iRhom1, RHDF1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q96CC6
Gene: RHBDF1
Ensembl: ENSG00000007384
Chromosome: 16
Canonical length: 855 aa
Protein class: Enzymes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Vesicles
Quaternary structure: Homodimer

OverviewNCBI Gene

Predicted to enable growth factor binding activity and serine-type endopeptidase activity. Involved in several processes, including negative regulation of protein secretion; regulation of epidermal growth factor receptor signaling pathway; and regulation of proteasomal protein catabolic process. Located in Golgi membrane and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

855 residues, UniProt reviewed canonical sequence.

>Q96CC6|RHBDF1
     1  MSEARRDSTS SLQRKKPPWL KLDIPSAVPL TAEEPSFLQP LRRQAFLRSV SMPAETAHIS
    61  SPHHELRRPV LQRQTSITQT IRRGTADWFG VSKDSDSTQK WQRKSIRHCS QRYGKLKPQV
   121  LRELDLPSQD NVSLTSTETP PPLYVGPCQL GMQKIIDPLA RGRAFRVADD TAEGLSAPHT
   181  PVTPGAASLC SFSSSRSGFH RLPRRRKRES VAKMSFRAAA ALMKGRSVRD GTFRRAQRRS
   241  FTPASFLEED TTDFPDELDT SFFAREGILH EELSTYPDEV FESPSEAALK DWEKAPEQAD
   301  LTGGALDRSE LERSHLMLPL ERGWRKQKEG AAAPQPKVRL RQEVVSTAGP RRGQRIAVPV
   361  RKLFAREKRP YGLGMVGRLT NRTYRKRIDS FVKRQIEDMD DHRPFFTYWL TFVHSLVTIL
   421  AVCIYGIAPV GFSQHETVDS VLRNRGVYEN VKYVQQENFW IGPSSEALIH LGAKFSPCMR
   481  QDPQVHSFIR SAREREKHSA CCVRNDRSGC VQTSEEECSS TLAVWVKWPI HPSAPELAGH
   541  KRQFGSVCHQ DPRVCDEPSS EDPHEWPEDI TKWPICTKNS AGNHTNHPHM DCVITGRPCC
   601  IGTKGRCEIT SREYCDFMRG YFHEEATLCS QVHCMDDVCG LLPFLNPEVP DQFYRLWLSL
   661  FLHAGILHCL VSICFQMTVL RDLEKLAGWH RIAIIYLLSG VTGNLASAIF LPYRAEVGPA
   721  GSQFGILACL FVELFQSWQI LARPWRAFFK LLAVVLFLFT FGLLPWIDNF AHISGFISGL
   781  FLSFAFLPYI SFGKFDLYRK RCQIIIFQVV FLGLLAGLVV LFYVYPVRCE WCEFLTCIPF
   841  TDKFCEKYEL DAQLH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RHBDF1 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: 7
Mean surface accessibility (rSASA): 0.45
Highest tissue expression: 98 nTPM

Expression across tissuesHPA

Tissue

blood vessel: 98 nTPM
vagina: 59 nTPM
prostate: 59 nTPM
cervix: 57 nTPM
lung: 56 nTPM
ovary: 53 nTPM

Single-cell type

esophageal apical cells: 49 nCPM
syncytiotrophoblasts: 41 nCPM
schwann cells: 39 nCPM
breast lactating cells: 38 nCPM
pancreatic duct cells: 33 nCPM
vascular smooth muscle cells: 26 nCPM

Immune cell

intermediate monocyte: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

thalamus: 11 nTPM
medulla oblongata: 11 nTPM
amygdala: 10 nTPM
midbrain: 10 nTPM
basal ganglia: 10 nTPM
cerebral cortex: 9.6 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): 0.94
gnomAD pLI: 0
gnomAD missense Z: 1.45
DepMap mean gene effect: -0.26
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

growth factor binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RHBDF1 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 RHBDF1 as an antibody target. Whether an autoantibody or antibody against RHBDF1 could matter depends on whether native RHBDF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RHBDF1 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 RHBDF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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