Seroatlas · Human Serome Atlas

RP1

Oxygen-regulated protein 1

Also known as: DCDC4A, ORP1, RP1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: P56715
Gene: RP1
Ensembl: ENSG00000104237
Chromosome: 8
Canonical length: 2156 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Mid piece

OverviewNCBI Gene

This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains, which bind microtubules and regulate microtubule polymerization. The encoded protein is a photoreceptor microtubule-associated protein and is required for correct stacking of outer segment disc. This protein and the RP1L1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Because of its response to in vivo retinal oxygen levels, this protein was initially named ORP1 (oxygen-regulated protein-1). This protein was subsequently designated RP1 (retinitis pigmentosa 1) when it was found that mutations in this gene cause autosomal dominant retinitis pigmentosa. Mutations in this gene also cause autosomal recessive retinitis pigmentosa. Transcript variants resulted from an alternative promoter and alternative splicings have been found, which overlap the current reference sequence and has several exons upstream and downstream of the current reference sequence. However, the biological validity and full-length nature of some variants cannot be determined at this time.[provided by RefSeq, Sep 2010]

Canonical amino-acid sequenceUniProt

2156 residues, UniProt reviewed canonical sequence.

>P56715|RP1
     1  MSDTPSTGFS IIHPTSSEGQ VPPPRHLSLT HPVVAKRISF YKSGDPQFGG VRVVVNPRSF
    61  KSFDALLDNL SRKVPLPFGV RNISTPRGRH SITRLEELED GESYLCSHGR KVQPVDLDKA
   121  RRRPRPWLSS RAISAHSPPH PVAVAAPGMP RPPRSLVVFR NGDPKTRRAV LLSRRVTQSF
   181  EAFLQHLTEV MQRPVVKLYA TDGRRVPSLQ AVILSSGAVV AAGREPFKPG NYDIQKYLLP
   241  ARLPGISQRV YPKGNAKSES RKISTHMSSS SRSQIYSVSS EKTHNNDCYL DYSFVPEKYL
   301  ALEKNDSQNL PIYPSEDDIE KSIIFNQDGT MTVEMKVRFR IKEEETIKWT TTVSKTGPSN
   361  NDEKSEMSFP GRTESRSSGL KLAACSFSAD VSPMERSSNQ EGSLAEEINI QMTDQVAETC
   421  SSASWENATV DTDIIQGTQD QAKHRFYRPP TPGLRRVRQK KSVIGSVTLV SETEVQEKMI
   481  GQFSYSEERE SGENKSEYHM FTHSCSKMSS VSNKPVLVQI NNNDQMEESS LERKKENSLL
   541  KSSAISAGVI EITSQKMLEM SHNNGLPSTI SNNSIVEEDV VDCVVLDNKT GIKNFKTYGN
   601  TNDRFSPISA DATHFSSNNS GTDKNISEAP ASEASSTVTA RIDRLINEFA QCGLTKLPKN
   661  EKKILSSVAS KKKKKSRQQA INSRYQDGQL ATKGILNKNE RINTKGRITK EMIVQDSDSP
   721  LKGGILCEED LQKSDTVIES NTFCSKSNLN STISKNFHRN KLNTTQNSKV QGLLTKRKSR
   781  SLNKISLGAP KKREIGQRDK VFPHNESKYC KSTFENKSLF HVFNILEQKP KDFYAPQSQA
   841  EVASGYLRGM AKKSLVSKVT DSHITLKSQK KRKGDKVKAS AILSKQHATT RANSLASLKK
   901  PDFPEAIAHH SIQNYIQSWL QNINPYPTLK PIKSAPVCRN ETSVVNCSNN SFSGNDPHTN
   961  SGKISNFVME SNKHITKIAG LTGDNLCKEG DKSFIANDTG EEDLHETQVG SLNDAYLVPL
  1021  HEHCTLSQSA INDHNTKSHI AAEKSGPEKK LVYQEINLAR KRQSVEAAIQ VDPIEEETPK
  1081  DLLPVLMLHQ LQASVPGIHK TQNGVVQMPG SLAGVPFHSA ICNSSTNLLL AWLLVLNLKG
  1141  SMNSFCQVDA HKATNKSSET LALLEILKHI AITEEADDLK AAVANLVEST TSHFGLSEKE
  1201  QDMVPIDLSA NCSTVNIQSV PKCSENERTQ GISSLDGGCS ASEACAPEVC VLEVTCSPCE
  1261  MCTVNKAYSP KETCNPSDTF FPSDGYGVDQ TSMNKACFLG EVCSLTDTVF SDKACAQKEN
  1321  HTYEGACPID ETYVPVNVCN TIDFLNSKEN TYTDNLDSTE ELERGDDIQK DLNILTDPEY
  1381  KNGFNTLVSH QNVSNLSSCG LCLSEKEAEL DKKHSSLDDF ENCSLRKFQD ENAYTSFDME
  1441  EPRTSEEPGS ITNSMTSSER NISELESFEE LENHDTDIFN TVVNGGEQAT EELIQEEVEA
  1501  SKTLELIDIS SKNIMEEKRM NGIIYEIISK RLATPPSLDF CYDSKQNSEK ETNEGETKMV
  1561  KMMVKTMETG SYSESSPDLK KCIKSPVTSD WSDYRPDSDS EQPYKTSSDD PNDSGELTQE
  1621  KEYNIGFVKR AIEKLYGKAD IIKPSFFPGS TRKSQVCPYN SVEFQCSRKA SLYDSEGQSF
  1681  GSSEQVSSSS SMLQEFQEER QDKCDVSAVR DNYCRGDIVE PGTKQNDDSR ILTDIEEGVL
  1741  IDKGKWLLKE NHLLRMSSEN PGMCGNADTT SVDTLLDNNS SEVPYSHFGN LAPGPTMDEL
  1801  SSSELEELTQ PLELKCNYFN MPHGSDSEPF HEDLLDVRNE TCAKERIANH HTEEKGSHQS
  1861  ERVCTSVTHS FISAGNKVYP VSDDAIKNQP LPGSNMIHGT LQEADSLDKL YALCGQHCPI
  1921  LTVIIQPMNE EDRGFAYRKE SDIENFLGFY LWMKIHPYLL QTDKNVFREE NNKASMRQNL
  1981  IDNAIGDIFD QFYFSNTFDL MGKRRKQKRI NFLGLEEEGN LKKFQPDLKE RFCMNFLHTS
  2041  LLVVGNVDSN TQDLSGQTNE IFKAVDENNN LLNNRFQGSR TNLNQVVREN INCHYFFEML
  2101  GQACLLDICQ VETSLNISNR NILELCMFEG ENLFIWEEED ILNLTDLESS REQEDL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RP1 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: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.62
Highest tissue expression: 219 nTPM

Expression across tissuesHPA

Tissue

retina: 219 nTPM
fallopian tube: 9.5 nTPM
lung: 3.3 nTPM
testis: 1.2 nTPM
kidney: 0.7 nTPM
breast: 0.6 nTPM

Single-cell type

respiratory ciliated cells: 2,985 nCPM
rod photoreceptor cells: 946 nCPM
endometrial ciliated cells: 659 nCPM
fallopian tube ciliated cells: 587 nCPM
transitional alveolar cells: 341 nCPM
loop of henle epithelial cells: 330 nCPM

Immune cell

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

Brain region

medulla oblongata: 1.3 nTPM
midbrain: 0.9 nTPM
amygdala: 0.6 nTPM
cerebral cortex: 0.6 nTPM
hippocampal formation: 0.6 nTPM
pons: 0.6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RP1.

Disease | AllUniProt

Conditions RP1 is implicated in, by any mechanism.

Retinitis pigmentosa 1 (RP1) MIM:180100

Disease | GeneticClinVar

337 pathogenic / likely-pathogenic of 1,838 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Retinal dystrophy
Retinitis pigmentosa 1
Retinitis pigmentosa
Autosomal recessive retinitis pigmentosa
Retinal disorder

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): 0.7
gnomAD pLI: 0
gnomAD missense Z: -0.89
DepMap mean gene effect: -0.07
DepMap dependency class: selective

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

microtubule binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RP1 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 RP1 as an antibody target. Whether an autoantibody or antibody against RP1 could matter depends on whether native RP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RP1 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 RP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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