Seroatlas · Human Serome Atlas

ROM1

Rod outer segment membrane protein 1

Also known as: ROM, ROM1_HUMAN, TSPAN23

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

Protein identityUniProt · HPA

UniProt accession: Q03395
Gene: ROM1
Ensembl: ENSG00000149489
Chromosome: 11
Canonical length: 351 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Nucleoplasm,Plasma membrane,Cytosol
Quaternary structure: Homotetramer

OverviewNCBI Gene

This gene is a member of a photoreceptor-specific gene family and encodes an integral membrane protein found in the photoreceptor disk rim of the eye. This protein can form homodimers or can heterodimerize with another photoreceptor, retinal degeneration slow (RDS). It is essential for disk morphogenesis, and may also function as an adhesion molecule involved in the stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. Certain defects in this gene have been associated with the degenerative eye disease retinitis pigmentosa. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

351 residues, UniProt reviewed canonical sequence.

>Q03395|ROM1
     1  MAPVLPLVLP LQPRIRLAQG LWLLSWLLAL AGGVILLCSG HLLVQLRHLG TFLAPSCQFP
    61  VLPQAALAAG AVALGTGLVG VGASRASLNA ALYPPWRGVL GPLLVAGTAG GGGLLVVGLG
   121  LALALPGSLD EALEEGLVTA LAHYKDTEVP GHCQAKRLVD ELQLRYHCCG RHGYKDWFGV
   181  QWVSSRYLDP GDRDVADRIQ SNVEGLYLTD GVPFSCCNPH SPRPCLQNRL SDSYAHPLFD
   241  PRQPNQNLWA QGCHEVLLEH LQDLAGTLGS MLAVTFLLQA LVLLGLRYLQ TALEGLGGVI
   301  DAGGETQGYL FPSGLKDMLK TAWLQGGVAC RPAPEEAPPG EAPPKEDLSE A

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ROM1 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: 4
Mean surface accessibility (rSASA): 0.33
Highest tissue expression: 1,101 nTPM

Expression across tissuesHPA

Tissue

retina: 1,101 nTPM
spinal cord: 68 nTPM
midbrain: 59 nTPM
amygdala: 50 nTPM
basal ganglia: 50 nTPM
hippocampal formation: 44 nTPM

Single-cell type

rod photoreceptor cells: 1,647 nCPM
cone photoreceptor cells: 186 nCPM
retinal pigment epithelial cells: 94 nCPM
müller glia: 91 nCPM
retinal bipolar cells: 70 nCPM
esophageal apical cells: 45 nCPM

Immune cell

NK-cell: 2.7 nTPM
memory CD4 T-cell: 1.2 nTPM
MAIT T-cell: 0.9 nTPM
naive CD8 T-cell: 0.6 nTPM
naive CD4 T-cell: 0.5 nTPM
total PBMC: 0.5 nTPM

Brain region

medulla oblongata: 52 nTPM
thalamus: 42 nTPM
white matter: 38 nTPM
midbrain: 36 nTPM
basal ganglia: 35 nTPM
spinal cord: 35 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ROM1.

Disease | AllUniProt

Conditions ROM1 is implicated in, by any mechanism.

Retinitis pigmentosa 7 (RP7) MIM:608133

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): 1.1
gnomAD pLI: 0
gnomAD missense Z: -0.91
DepMap mean gene effect: 0.04
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

Molecular functions

protein homodimerization activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ROM1 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 ROM1 as an antibody target. Whether an autoantibody or antibody against ROM1 could matter depends on whether native ROM1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ROM1 is annotated at the cell surface, where native ROM1 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 ROM1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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