Seroatlas · Human Serome Atlas

PKHD1L1

Fibrocystin-L

Also known as: PKHL1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q86WI1
Gene: PKHD1L1
Ensembl: ENSG00000205038
Chromosome: 8
Canonical length: 4243 aa
Protein class: Predicted membrane proteins
Subcellular location: Flagellar centriole,Mid piece,Principal piece

OverviewNCBI Gene

Predicted to enable signaling receptor activity. Predicted to be involved in immune response. Predicted to act upstream of or within sensory perception of sound. Predicted to be located in cytosol; extracellular space; and membrane. Implicated in autosomal recessive nonsyndromic deafness. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

4243 residues, UniProt reviewed canonical sequence.

>Q86WI1|PKHD1L1
     1  MGHLWLLGIW GLCGLLLCAA DPSTDGSQII PKVTEIIPKY GSINGATRLT IRGEGFSQAN
    61  QFNYGVDNAE LGNSVQLISS FQSITCDVEK DASHSTQITC YTRAMPEDSY TVRVSVDGVP
   121  VTENNTCKGH INSWECTFNA KSFRTPTIRS ITPLSGTPGT LITIQGRIFT DVYGSNIALS
   181  SNGKNVRILR VYIGGMPCEL LIPQSDNLYG LKLDHPNGDM GSMVCKTTGT FIGHHNVSFI
   241  LDNDYGRSFP QKMAYFVSSL NKIAMFQTYA EVTMIFPSQG SIRGGTTLTI SGRFFDQTDF
   301  PVRVLVGGEP CDILNVTENS ICCKTPPKPH ILKTVYPGGR GLKLEVWNNS RPIRLEEILE
   361  YNEKTPGYMG ASWVDSASYI WLMEQDTFVA RFSGFLVAPD SDVYRFYIKG DDRYAIYFSQ
   421  TGLPEDKVRI AYHSANANSY FSSPTQRSDD IHLQKGKEYY IEILLQEYRL SAFVDVGLYQ
   481  YRNVYTEQQT GDAVNEEQVI KSQSTILQEV QVITLENWET TNAINEVQKI KVTSPCVEAN
   541  SCSLYQYRLI YNMEKTVFLP ADASEFILQS ALNDLWSIKP DTVQVIRTQN PQSYVYMVTF
   601  ISTRGDFDLL GYEVVEGNNV TLDITEQTKG KPNLETFTLN WDGIASKPLT LWSSEAEFQG
   661  AVEEMVSTKC PPQIANFEEG FVVKYFRDYE TDFNLEHINR GQKTAETDAY CGRYSLKNPA
   721  VLFDSADVKP NRRPYGDILL FPYNQLCLAY KGFLANYIGL KFQYQDNSKI TRSTDTQFTY
   781  NFAYGNNWTY TCIDLLDLVR TKYTGTNVSL QRISLHKASE SQSFYVDVVY IGHTSTISTL
   841  DEMPKRRLPA LANKGIFLEH FQVNQTKTNG PTMTNQYSVT MTSYNCSYNI PMMAVSFGQI
   901  ITHETENEFV YRGNNWPGES KIHIQRIQAA SPPLSGSFDI QAYGHILKGL PAAVSAADLQ
   961  FALQSLEGMG RISVTREGTC AGYAWNIKWR STCGKQNLLQ INDSNIIGEK ANMTVTRIKE
  1021  GGLFRQHVLG DLLRTPSQQP QVEVYVNGIP AKCSGDCGFT WDSNITPLVL AISPSQGSYE
  1081  EGTILTIVGS GFSPSSAVTV SVGPVGCSLL SVDEKELKCQ ILNGSAGHAP VAVSMADVGL
  1141  AQNVGGEEFY FVYQSQISHI WPDSGSIAGG TLLTLSGFGF NENSKVLVGN ETCNVIEGDL
  1201  NRITCRTPKK TEGTVDISVT TNGFQATARD AFSYNCLQTP IITDFSPKVR TILGEVNLTI
  1261  KGYNFGNELT QNMAVYVGGK TCQILHWNFT DIRCLLPKLS PGKHDIYVEV RNWGFASTRD
  1321  KLNSSIQYVL EVTSMFPQRG SLFGGTEITI RGFGFSTIPA ENTVLLGSIP CNVTSSSENV
  1381  IKCILHSTGN IFRITNNGKD SVHGLGYAWS PPVLNVSVGD TVAWHWQTHP FLRGIGYRIF
  1441  SVSSPGSVIY DGKGFTSGRQ KSTSGSFSYQ FTSPGIHYYS SGYVDEAHSI FLQGVINVLP
  1501  AETRHIPLHL FVGRSEATYA YGGPENLHLG SSVAGCLATE PLCSLNNTRV KNSKRLLFEV
  1561  SSCFSPSISN ITPSTGTVNE LITIIGHGFS NLPWANKVTI GSYPCVVEES SEDSITCHID
  1621  PQNSMDVGIR ETVTLTVYNL GTAINTLSNE FDRRFVLLPN IDLVLPNAGS TTGMTSVTIK
  1681  GSGFAVSSAG VKVLMGHFPC KVLSVNYTAI ECETSPAAQQ LVDVDLLIHG VPAQCQGNCT
  1741  FSYLESITPY ITGVFPNSVI GSVKVLIEGE GLGTVLEDIA VFIGNQQFRA IEVNENNITA
  1801  LVTPLPVGHH SVSVVVGSKG LALGNLTVSS PPVASLSPTS GSIGGGTTLV ITGNGFYPGN
  1861  TTVTIGDEPC QIISINPNEV YCRTPAGTTG MVDVKIFVNT IAYPPLLFTY ALEDTPFLRG
  1921  IIPSRGPPGT EIEITGSNFG FEILEISVMI NNIQCNVTMA NDSVVQCIVG DHAGGTFPVM
  1981  MHHKTKGSAM STVVFEYPLN IQNINPSQGS FGGGQTMTVT GTGFNPQNSI ILVCGSECAI
  2041  DRLRSDYTTL LCEIPSNNGT GAEQACEVSV VNGKDLSQSM TPFTYAVSLT PLITAVSPKR
  2101  GSTAGGTRLT VVGSGFSENM EDVHITIAEA KCDVEYSNKT HIICMTDAHT LSGWAPVCVH
  2161  IRGVGMAKLD NADFLYVDAW SSNFSWGGKS PPEEGSLVVI TKGQTILLDQ STPILKMLLI
  2221  QGGTLIFDEA DIELQAENIL ITDGGVLQIG TETSPFQHKA VITLHGHLRS PELPVYGAKT
  2281  LAVREGILDL HGVPVPVTWT RLAHTAKAGE RILILQEAVT WKPGDNIVIA STGHRHSQGE
  2341  NEKMTIASVS ADGINITLSN PLNYTHLGIT VTLPDGTLFE ARAEVGILTR NILIRGSDNV
  2401  EWNNKIPACP DGFDTGEFAT QTCLQGKFGE EIGSDQFGGC VMFHAPVPGA NMVTGRIEYV
  2461  EVFHAGQAFR LGRYPIHWHL LGDLQFKSYV RGCAIHQAYN RAVTIHNTHH LLVERNIIYD
  2521  IKGGAFFIED GIEHGNILQY NLAVFVQQST SLLNDDVTPA AFWVTNPNNT IRHNAVAGGT
  2581  HFGFWYRMNN HPDGPSYDRN ICQKRVPLGE FFNNTVHSQG WFGMWIFEEY FPMQTGSCTS
  2641  TVPAPAIFNS LTTWNCQKGA EWVNGGALQF HNFVMVNNYE AGIETKRILA PYVGGWGETN
  2701  GAVIKNAKIV GHLDELGMGS AFCTAKGLVL PFSEGLTVSS VHFMNFDRPN CVALGVTSIS
  2761  GVCNDRCGGW SAKFVDVQYS HTPNKAGFRW EHEMVMIDVD GSLTGHKGHT VIPHSSLLDP
  2821  SHCTQEAEWS IGFPGSVCDA SVSFHRLAFN QPSPVSLLEK DVVLSDSFGT SIIPFQKKRL
  2881  THMSGWMALI PNANHINWYF KGVDHITNIS YTSTFYGFKE EDYVIISHNF TQNPDMFNII
  2941  DMRNGSSNPL NWNTSKNGDW HLEANTSTLY YLVSGRNDLH QSQLISGNLD PDVKDVVINF
  3001  QAYCCILQDC FPVHPPSRKP IPKKRPATYN LWSNDSFWQS SRENNYTVPH PGANVIIPEG
  3061  TWIVADIDMP SMERLIIWGV LELEDKYNVG AAESSYREVV LNATYISLQG GRLIGGWEDN
  3121  PFKGDLKIVL RGNHTTQDWA LPEGPNQGAK VLGVFGELDL HGIPHSIYKT KLSETAFAGS
  3181  KVLSLMDAVD WQEGEEIVIT TTSYDFHQTE TRSIVKILHD HKILILNDSL SYTHFAEKYH
  3241  VPGTGESYTL AADVGILSRN IKIVGEDYPG WSEDSFGARV LVGSFTENMM TFKGNARISN
  3301  VEFYHSGQEG FRDSTDPRYA VTFLNLGQIQ EHGSSYIRGC AFHHGFSPAI GVFGTDGLDI
  3361  DDNIIHFTVG EGIRIWGNAN RVRGNLIALS VWPGTYQNRK DLSSTLWHAA IEINRGTNTV
  3421  LQNNVVAGFG RAGYRIDGEP CPGQFNPVEK WFDNEAHGGL YGIYMNQDGL PGCSLIQGFT
  3481  IWTCWDYGIY FQTTESVHIY NVTLVDNGMA IFPMIYMPAA ISHKISSKNV QIKSSLIVGS
  3541  SPGFNCSDVL TNDDPNIELT AAHRSPRSPS GGRSGICWPT FASAHNMAPR KPHAGIMSYN
  3601  AISGLLDISG STFVGFKNVC SGETNVIFIT NPLNEDLQHP IHVKNIKLVD TTEQSKIFIH
  3661  RPDISKVNPS DCVDMVCDAK RKSFLRDIDG SFLGNAGSVI PQAEYEWDGN SQVGIGDYRI
  3721  PKAMLTFLNG SRIPVTEKAP HKGIIRDSTC KYLPEWQSYQ CFGMEYAMMV IESLDPDTET
  3781  RRLSPVAIMG NGYVDLINGP QDHGWCAGYT CQRRLSLFHS IVALNKSYEV YFTGTSPQNL
  3841  RLMLLNVDHN KAVLVGIFFS TLQRLDVYVN NLLVCPKTTI WNAQQKHCEL NNHLYKDQFL
  3901  PNLDSTVLGE NYFDGTYQML YLLVKGTIPV EIHTATVIFV SFQLSVATED DFYTSHNLVK
  3961  NLALFLKIPS DKIRISKIRG KSLRRKRSMG FIIEIEIGDP PIQFISNGTT GQMQLSELQE
  4021  IAGSLGQAVI LGNISSILGF NISSMSITNP LPSPSDSGWI KVTAQPVERS AFPVHHVAFV
  4081  SSLLVITQPV AAQPGQPFPQ QPSVKATDSD GNCVSVGITA LTLRAILKDS NNNQVNGLSG
  4141  NTTIPFSSCW ANYTDLTPLR TGKNYKIEFI LDNVVGVESR TFSLLAESVS SSGSSSSSNS
  4201  KASTVGTYAQ IMTVVISCLV GRMWLLEIFM AAVSTLNITL RSY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PKHD1L1 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: 1
Mean surface accessibility (rSASA): 0
Highest tissue expression: 61 nTPM

Expression across tissuesHPA

Tissue

thyroid gland: 61 nTPM
adipose tissue: 22 nTPM
fallopian tube: 15 nTPM
cervix: 13 nTPM
heart muscle: 8 nTPM
lung: 6 nTPM

Single-cell type

lymphatic endothelial cells: 1,442 nCPM
mesothelial cells: 1,322 nCPM
epicardial cells: 1,237 nCPM
platelets: 504 nCPM
fallopian secretory cells: 237 nCPM
endometrial ciliated cells: 202 nCPM

Immune cell

memory B-cell: 0.4 nTPM
naive B-cell: 0.3 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM

Brain region

choroid plexus: 3 nTPM
white matter: 0.8 nTPM
hypothalamus: 0.5 nTPM
amygdala: 0.4 nTPM
basal ganglia: 0.3 nTPM
cerebral cortex: 0.3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PKHD1L1.

Disease | AllUniProt

Conditions PKHD1L1 is implicated in, by any mechanism.

Deafness, autosomal recessive, 124 (DFNB124) MIM:620794

Disease | GeneticClinVar

21 pathogenic / likely-pathogenic of 755 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autosomal recessive nonsyndromic hearing loss 124

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): 1.06
gnomAD pLI: 0
gnomAD missense Z: -0.72
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

signaling receptor activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PKHD1L1 as an antibody target. Whether an autoantibody or antibody against PKHD1L1 could matter depends on whether native PKHD1L1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PKHD1L1 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 PKHD1L1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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