Seroatlas · Human Serome Atlas

RP1L1

Retinitis pigmentosa 1-like 1 protein

Also known as: DCDC4B, RP1L1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q8IWN7
Gene
RP1L1
Ensembl
ENSG00000183638
Chromosome
8
Canonical length
2400 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, and two C-terminal large repetitive regions, both of which contain a high percentage of glutamine and glutamic acid residues. This protein is a retinal-specific protein. Its exact length varies among individuals due to the presence of a 16aa repeat in the first C-terminal repetitive region. The 16aa repeat is encoded by the highly polymorphic 48-bp repeat, and 1-6 copies of the 16aa repeat have been identified in normal individuals. The current reference sequence shown here has a single copy of the 16aa repeat. This protein and the RP1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Mutations in this gene cause occult macular dystrophy (OMD). [provided by RefSeq, Sep 2010]

Canonical amino-acid sequenceUniProt

2400 residues, UniProt reviewed canonical sequence.

>Q8IWN7|RP1L1
     1  MNSTPRNAQA PSHRECFLPS VARTPSVTKV TPAKKITFLK RGDPRFAGVR LAVHQRAFKT
    61  FSALMDELSQ RVPLSFGVRS VTTPRGLHSL SALEQLEDGG CYLCSDKKPP KTPSGPGRPQ
   121  ERNPTAQQLR DVEGQREAPG TSSSRKSLKT PRRILLIKNM DPRLQQTVVL SHRNTRNLAA
   181  FLGKASDLLR FPVKQLYTTS GKKVDSLQAL LHSPSVLVCA GHEAFRTPAM KNARRSEAET
   241  LSGLTSRNKN GSWGPKTKPS VIHSRSPPGS TPRLPERPGP SNPPVGPAPG RHPQDTPAQS
   301  GPLVAGDDMK KKVRMNEDGS LSVEMKVRFH LVGEDTLLWS RRMGRASALT AASGEDPVLG
   361  EVDPLCCVWE GYPWGFSEPG VWGPRPCRVG CREVFGRGGQ PGPKYEIWTN PLHASQGERV
   421  AARKRWGLAQ HVRCSGLWGH GTAGRERCSQ DSASPASSTG LPEGSEPESS CCPRTPEDGV
   481  DSASPSAQIG AERKAGGSLG EDPGLCIDGA GLGGPEQGGR LTPRARSEEG ASSDSSASTG
   541  SHEGSSEWGG RPQGCPGKAR AETSQQEASE GGDPASPALS LSSLRSDDLQ AETQGQGTEQ
   601  ATGAAVTREP LVLGLSCSWD SEGASSTPST CTSSQQGQRR HRSRASAMSS PSSPGLGRVA
   661  PRGHPRHSHY RKDTHSPLDS SVTKQVPRPP ERRRACQDGS VPRYSGSSSS TRTQASGNLR
   721  PPSSGSLPSQ DLLGTSSATV TPAVHSDFVS GVSPHNAPSA GWAGDAGSRT CSPAPIPPHT
   781  SDSCSKSGAA SLGEEARDTP QPSSPLVLQV GRPEQGAVGP HRSHCCSQPG TQPAQEAQRG
   841  PSPEASWLCG RYCPTPPRGR PCPQRRSSSC GSTGSSHQST ARGPGGSPQE GTRQPGPTPS
   901  PGPNSGASRR SSASQGAGSR GLSEEKTLRS GGGPQGQEEA SGVSPSSLPR SSPEAVVREW
   961  LDNIPEEPIL MTYELADETT GAAGGGLRGP EVDPGDDHSL EGLGEPAQAG QQSLEGDPGQ
  1021  DPEPEGALLG SSDTGPQSGE GVPQGAAPEG VSEAPAEAGA DREAPAGCRV SLRALPGRVS
  1081  ASTQIMRALM GSKQGRPSSV PEVSRPMARR LSCSAGALIT CLASLQLFEE DLGSPASKVR
  1141  FKDSPRYQEL LSISKDLWPG CDVGEDQLDS GLWELTWSQA LPDLGSHAMT ENFTPTSSSG
  1201  VDISSGSGGS GESSVPCAMD GTLVTQGTEL PLKTSNQRPD SRTYESPGDL ENQQQCCFPT
  1261  FLNARACACA TNEDEAERDS EEQRASSNLE QLAENTVQEE VQLEETKEGT EGEGLQEEAV
  1321  QLEETKTEEG LQEEGVQLEE TKETEGEGQQ EEEAQLEEIE ETGGEGLQEE GVQLEEVKEG
  1381  PEGGLQGEAL EEGLKEEGLP EEGSVHGQEL SEASSPDGKG SQEDDPVQEE EAGRASASAE
  1441  PCPAEGTEEP TEPPSHLSET DPSASERQSG SQLEPGLEKP PGATMMGQEH TQAQPTQGAA
  1501  ERSSSVACSA ALDCDPIWVS VLLKKTEKAF LAHLASAVAE LRARWGLQDN DLLDQMAAEL
  1561  QQDVAQRLQD STKRELQKLQ GRAGRMVLEP PREALTGELL LQTQQRRHRL RGLRNLSAFS
  1621  ERTLGLGPLS FTLEDEPALS TALGSQLGEE AEGEEFCPCE ACVRKKVSPM SPKATMGATR
  1681  GPIKEAFDLQ QILQRKRGEH TDGEAAEVAP GKTHTDPTST RTVQGAEGGL GPGLSQGPGV
  1741  DEGEDGEGSQ RLNRDKDPKL GEAEGDAMAQ EREGKTHNSE TSAGSELGEA EQEGEGISER
  1801  GETGGQGSGH EDNLQGEAAA GGDQDPGQSD GAEGIEAPEA EGEAQPESEG VEAPEAEGDA
  1861  QEAEGEAQPE SEDVEAPEAE GEAQPESEDV ETPEAEWEVQ PESEGAEAPE AEKEAQPETE
  1921  SVEALETEGE DEPESEGAEA QEAEEAAQEA EGQTQPESEV IESQEAEEEA QPESEDVEAL
  1981  EVEVETQEAE GEAQPESEDV EAPEAEGEMQ EAEEEAQPES DGVEAQPKSE GEEAQEVEGE
  2041  TQKTEGDAQP ESDGVEAPEA EEEAQEAEGE VQEAEGEAHP ESEDVDAQEA EGEAQPESEG
  2101  VEAPEAEGEA QKAEGIEAPE TEGEAQPESE GIEAPEAEGE AQPESEGVEA QDAEGEAQPE
  2161  SEGIEAQEAE EEAQPELEGV EAPEAEGEAQ PESEGIEAPE AEGEAQPELE GVEAPEAEEE
  2221  AQPEPEGVET PEAEGEAQPE SEGETQGEKK GSPQVSLGDG QSEEASESSS PVPEDRPTPP
  2281  PSPGGDTPHQ RPGSQTGPSS SRASSWGNCW QKDSENDHVL GDTRSPDAKS TGTPHAERKA
  2341  TRMYPESSTS EQEEAPLGSR TPEQGASEGY DLQEDQALGS LAPTEAVGRA DGFGQDDLDF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RP1L1 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)
0.61
Highest tissue expression
41 nTPM

Expression across tissuesHPA

Tissue

  • retina: 41 nTPM
  • skin: 0.3 nTPM
  • pituitary gland: 0.2 nTPM
  • bone marrow: 0.1 nTPM
  • breast: 0.1 nTPM
  • cervix: 0.1 nTPM

Single-cell type

  • rod photoreceptor cells: 17 nCPM
  • cone photoreceptor cells: 12 nCPM
  • conjunctival goblet cells: 1.9 nCPM
  • distal convoluted tubule cells: 1.7 nCPM
  • papillary tip epithelial cells: 1.3 nCPM
  • brain inhibitory neurons: 0.7 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

  • choroid plexus: 0.1 nTPM
  • hypothalamus: 0.1 nTPM
  • medulla oblongata: 0.1 nTPM
  • midbrain: 0.1 nTPM
  • pons: 0.1 nTPM
  • thalamus: 0.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RP1L1.

Disease | AllUniProt

Conditions RP1L1 is implicated in, by any mechanism.

Disease | GeneticClinVar

50 pathogenic / likely-pathogenic of 1,746 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
1.95
gnomAD pLI
0
gnomAD missense Z
-10
DepMap mean gene effect
0.06
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RP1L1 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 RP1L1 as an antibody target. Whether an autoantibody or antibody against RP1L1 could matter depends on whether native RP1L1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RP1L1 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 RP1L1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/RP1L1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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