Seroatlas · Human Serome Atlas

PKD1L1

Polycystin-1-like protein 1

Also known as: PK1L1_HUMAN, PRO19563

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

Protein identityUniProt · HPA

UniProt accession: Q8TDX9
Gene: PKD1L1
Ensembl: ENSG00000158683
Chromosome: 7
Canonical length: 2849 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted membrane proteins, Transporters

OverviewNCBI Gene

This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

2849 residues, UniProt reviewed canonical sequence.

>Q8TDX9|PKD1L1
     1  MAEEAAQNIS DDQERCLQAA CCLSFGGELS VSTDKSWGLH LCSCSPPGGG LWVEVYANHV
    61  LLMSDGKCGC PWCALNGKAE DRESQSPSSS ASRQKNIWKT TSEAALSVVN EKTQAVVNEK
   121  TQAPLDCDNS ADRIPHKPFI IIARAWSSGG PRFHHRRLCA TGTADSTFSA LLQLQGTTSA
   181  AAPCSLKMEA SCCVLRLLCC AEDVATGLLP GTVTMETPTK VARPTQTSSQ RVPLWPISHF
   241  PTSPRSSHGL PPGIPRTPSF TASQSGSEIL YPPTQHPPVA ILARNSDNFM NPVLNCSLEV
   301  EARAPPNLGF RVHMASGEAL CLMMDFGDSS GVEMRLHNMS EAMAVTAYHQ YSKGIFFHLL
   361  HFQLDMSTYK EAETQNTTLN VYLCQSENSC LEDSDPSNLG YELISAFVTK GVYMLKAVIY
   421  NEFHGTEVEL GPYYVEIGHE AVSAFMNSSS VHEDEVLVFA DSQVNQKSTV VIHHFPSIPS
   481  YNVSFISQTQ VGDSQAWHSM TVWYKMQSVS VYTNGTVFAT DTDITFTAVT KETIPLEFEW
   541  YFGEDPPVRT TSRSIKKRLS IPQWYRVMVK ASNRMSSVVS EPHVIRVQKK IVANRLTSPS
   601  SALVNASVAF ECWINFGTDV AYLWDFGDGT VSLGSSSSSH VYSREGEFTV EVLAFNNVSA
   661  STLRQQLFIV CEPCQPPLVK NMGPGKVQIW RSQPVRLGVT FEAAVFCDIS QGLSYTWNLM
   721  DSEGLPVSLP AAVDTHRQTL ILPSHTLEYG NYTALAKVQI EGSVVYSNYC VGLEVRAQAP
   781  VSVISEGTHL FFSRTTSSPI VLRGTQSFDP DDPGATLRYH WECATAGSPA HPCFDSSTAH
   841  QLDAAAPTVS FEAQWLSDSY DQFLVMLRVS SGGRNSSETR VFLSPYPDSA FRFVHISWVS
   901  FKDTFVNWND ELSLQAMCED CSEIPNLSYS WDLFLVNATE KNRIEVPFCR VVGLLGSLGL
   961  GAISESSQLN LLPTEPGTAD PDATTTPFSR EPSPVTLGQP ATSAPRGTPT EPMTGVYWIP
  1021  PAGDSAVLGE APEEGSLDLE PGPQSKGSLM TGRSERSQPT HSPDPHLSDF EAYYSDIQEA
  1081  IPSGGRQPAK DTSFPGSGPS LSAEESPGDG DNLVDPSLSA GRAEPVLMID WPKALLGRAV
  1141  FQGYSSSGIT EQTVTIKPYS LSSGETYVLQ VSVASKHGLL GKAQLYLTVN PAPRDMACQV
  1201  QPHHGLEAHT VFSVFCMSGK PDFHYEFSYQ IGNTSKHTLY HGRDTQYYFV LPAGEHLDNY
  1261  KVMVSTEITD GKGSKVQPCT VVVTVLPRYH GNDCLGEDLY NSSLKNLSTL QLMGSYTEIR
  1321  NYITVITRIL SRLSKEDKTA SCNQWSRIQD ALISSVCRLA FVDQEEMIGS VLMLRDLVSF
  1381  SNKLGFMSAV LILKYTRALL AQGQFSGPFV IDKGVRLELI GLISRVWEVS EQENSKEEVY
  1441  RHEEGITVIS DLLLGCLSLN HVSTGQMEFR TLLHYNLQSS VQSLGSVQVH LPGDLAGHSP
  1501  AGAETQSPCY ISQLILFKKN PYPGSQAPGQ IGGVVGLNLY TCSSRRPINR QWLRKPVMVE
  1561  FGEEDGLDNR RNKTTFVLLR DKVNLHQFTE LSENPQESLQ IEIEFSKPVT RAFPVMLLVR
  1621  FSEKPTPSDF LVKQIYFWDE SIVQIYIPAA SQKDASVGYL SLLDADYDRK PPNRYLAKAV
  1681  NYTVHFQWIR CLFWDKREWK SERFSPQPGT SPEKVNCSYH RLAAFALLRR KLKASFEVSD
  1741  ISKLQSHPEN LLPSIFIMGS VILYGFLVAK SRQVDHHEKK KAGYIFLQEA SLPGHQLYAV
  1801  VIDTGFRAPA RLTSKVYIVL CGDNGLSETK ELSCPEKPLF ERNSRHTFIL SAPAQLGLLR
  1861  KIRLWHDSRG PSPGWFISHV MVKELHTGQG WFFPAQCWLS AGRHDGRVER ELTCLQGGLG
  1921  FRKLFYCKFT EYLEDFHVWL SVYSRPSSSR YLHTPRLTVS FSLLCVYACL TALVAAGGQE
  1981  QPHLDVSPTL GSFRVGLLCT LLASPGAQLL SLLFRLSKEA PGSARVEPHS PLRGGAQTEA
  2041  PHGPNSWGRI PDAQEPRKQP ASAILSGSGR AQRKAASDNG TACPAPKLQV HGADHSRTSL
  2101  MGKSHCCPPH TQAPSSGLEG LMPQWSRALQ PWWSSAVWAI CGTASLACSL GTGFLAYRFG
  2161  QEQCVQWLHL LSLSVVCCIF ITQPLMVCLM ALGFAWKRRA DNHFFTESLC EATRDLDSEL
  2221  AERSWTRLPF SSSCSIPDCA GEVEKVLAAR QQARHLRWAH PPSKAQLRGT RQRMRRESRT
  2281  RAALRDISMD ILMLLLLLCV IYGRFSQDEY SLNQAIRKEF TRNARNCLGG LRNIADWWDW
  2341  SLTTLLDGLY PGGTPSARVP GAQPGALGGK CYLIGSSVIR QLKVFPRHLC KPPRPFSALI
  2401  EDSIPTCSPE VGGPENPYLI DPENQNVTLN GPGGCGTRED CVLSLGRTRT EAHTALSRLR
  2461  ASMWIDRSTR AVSVHFTLYN PPTQLFTSVS LRVEILPTGS LVPSSLVESF SIFRSDSALQ
  2521  YHLMLPQLVF LALSLIHLCV QLYRMMDKGV LSYWRKPRNW LELSVVGVSL TYYAVSGHLV
  2581  TLAGDVTNQF HRGLCRAFMD LTLMASWNQR ARWLRGILLF LFTLKCVYLP GIQNTMASCS
  2641  SMMRHSLPSI FVAGLVGALM LAALSHLHRF LLSMWVLPPG TFTDAFPGLL FHFPRRSQKD
  2701  CLLGLSKSDQ RAMACYFGIL LIVSATLCFG MLRGFLMTLP QKRKSFQSKS FVRLKDVTAY
  2761  MWEKVLTFLR LETPKLEEAE MVENHNYYLD EFANLLDELL MKINGLSDSL QLPLLEKTSN
  2821  NTGEARTEES PLVDISSYQA AEPADIKDF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PKD1L1 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: 11
Mean surface accessibility (rSASA): 0
Highest tissue expression: 2.6 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 2.6 nTPM
tongue: 2.4 nTPM
retina: 1.6 nTPM
adipose tissue: 1.3 nTPM
heart muscle: 1.2 nTPM
thymus: 1.2 nTPM

Single-cell type

retinal bipolar cells: 127 nCPM
retinal horizontal cells: 68 nCPM
brain inhibitory neurons: 58 nCPM
vascular endothelial cells: 56 nCPM
myonuclei: 56 nCPM
retinal amacrine cells: 48 nCPM

Immune cell

basophil: 0.9 nTPM
neutrophil: 0.4 nTPM
naive B-cell: 0.2 nTPM
NK-cell: 0.2 nTPM
classical monocyte: 0.1 nTPM
eosinophil: 0.1 nTPM

Brain region

cerebellum: 11 nTPM
cerebral cortex: 10 nTPM
hypothalamus: 9.6 nTPM
white matter: 9.2 nTPM
basal ganglia: 9.1 nTPM
midbrain: 8.5 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PKD1L1.

Disease | AllUniProt

Conditions PKD1L1 is implicated in, by any mechanism.

Heterotaxy, visceral, 8, autosomal (HTX8) MIM:617205

Disease | GeneticClinVar

63 pathogenic / likely-pathogenic of 1,190 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Heterotaxy, visceral, 8, autosomal
PKD1L1-related disorder
Situs inversus
Inborn genetic diseases
Visceral heterotaxy

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): 0.73
gnomAD pLI: 0
gnomAD missense Z: 0.33
DepMap mean gene effect: -0.05
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

calcium channel activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PKD1L1 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 PKD1L1 as an antibody target. Whether an autoantibody or antibody against PKD1L1 could matter depends on whether native PKD1L1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PKD1L1 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 PKD1L1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...