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Fibrocystin-L (Polycystic kidney and hepatic disease 1-like protein 1) (PKHD1-like protein 1)

 PKHL1_HUMAN             Reviewed;        4243 AA.
Q86WI1; Q567P2; Q9UF27;
05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
24-NOV-2009, sequence version 2.
12-SEP-2018, entry version 116.
RecName: Full=Fibrocystin-L;
AltName: Full=Polycystic kidney and hepatic disease 1-like protein 1;
Short=PKHD1-like protein 1;
Flags: Precursor;
Name=PKHD1L1;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, AND VARIANT LEU-1965.
PubMed=12620974; DOI=10.1093/hmg/ddg068;
Hogan M.C., Griffin M.D., Rossetti S., Torres V.E., Ward C.J.,
Harris P.C.;
"PKHDL1, a homolog of the autosomal recessive polycystic kidney
disease gene, encodes a receptor with inducible T lymphocyte
expression.";
Hum. Mol. Genet. 12:685-698(2003).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16421571; DOI=10.1038/nature04406;
Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S.,
Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A.,
Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
Allen N.R., Anderson S., Asakawa T., Blechschmidt K., Bloom T.,
Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K.,
DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G.,
Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B.,
Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C.,
O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K.,
Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R.,
Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K.,
Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q.,
Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N.,
Lander E.S.;
"DNA sequence and analysis of human chromosome 8.";
Nature 439:331-335(2006).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-268.
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 3820-4243.
TISSUE=Uterus;
PubMed=17974005; DOI=10.1186/1471-2164-8-399;
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
"The full-ORF clone resource of the German cDNA consortium.";
BMC Genomics 8:399-399(2007).
-!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
protein {ECO:0000305}.
-!- TISSUE SPECIFICITY: Ubiquitous. Expressed in spleen and thymus as
well as in activated T-cells and B-lymphoblasts.
{ECO:0000269|PubMed:12620974}.
-!- SEQUENCE CAUTION:
Sequence=AAH93096.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
-----------------------------------------------------------------------
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EMBL; AY219181; AAO60072.1; -; mRNA.
EMBL; AC021001; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AC021237; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC093096; AAH93096.1; ALT_SEQ; mRNA.
EMBL; AL133640; CAB63761.1; -; mRNA.
CCDS; CCDS47911.1; -.
PIR; T43498; T43498.
RefSeq; NP_803875.2; NM_177531.4.
UniGene; Hs.170128; -.
UniGene; Hs.607451; -.
ProteinModelPortal; Q86WI1; -.
SMR; Q86WI1; -.
DIP; DIP-59023N; -.
IntAct; Q86WI1; 1.
CarbonylDB; Q86WI1; -.
iPTMnet; Q86WI1; -.
PhosphoSitePlus; Q86WI1; -.
BioMuta; PKHD1L1; -.
DMDM; 269849629; -.
PaxDb; Q86WI1; -.
PeptideAtlas; Q86WI1; -.
PRIDE; Q86WI1; -.
ProteomicsDB; 70165; -.
Ensembl; ENST00000378402; ENSP00000367655; ENSG00000205038.
GeneID; 93035; -.
KEGG; hsa:93035; -.
UCSC; uc003yne.4; human.
CTD; 93035; -.
DisGeNET; 93035; -.
EuPathDB; HostDB:ENSG00000205038.11; -.
GeneCards; PKHD1L1; -.
H-InvDB; HIX0034733; -.
H-InvDB; HIX0201302; -.
HGNC; HGNC:20313; PKHD1L1.
HPA; HPA044458; -.
MIM; 607843; gene.
neXtProt; NX_Q86WI1; -.
OpenTargets; ENSG00000205038; -.
PharmGKB; PA134950222; -.
eggNOG; ENOG410IEIF; Eukaryota.
eggNOG; ENOG410XQ01; LUCA.
GeneTree; ENSGT00780000121902; -.
HOGENOM; HOG000010311; -.
HOVERGEN; HBG099795; -.
InParanoid; Q86WI1; -.
OMA; GRSGICW; -.
OrthoDB; EOG091G000V; -.
PhylomeDB; Q86WI1; -.
TreeFam; TF329582; -.
ChiTaRS; PKHD1L1; human.
GenomeRNAi; 93035; -.
PRO; PR:Q86WI1; -.
Proteomes; UP000005640; Chromosome 8.
Bgee; ENSG00000205038; Expressed in 102 organ(s), highest expression level in right uterine tube.
CleanEx; HS_PKHD1L1; -.
ExpressionAtlas; Q86WI1; baseline and differential.
Genevisible; Q86WI1; HS.
GO; GO:0005929; C:cilium; IEA:Ensembl.
GO; GO:0005829; C:cytosol; TAS:UniProtKB.
GO; GO:0005615; C:extracellular space; NAS:UniProtKB.
GO; GO:0016021; C:integral component of membrane; NAS:UniProtKB.
GO; GO:0038023; F:signaling receptor activity; NAS:UniProtKB.
GO; GO:0006955; P:immune response; NAS:UniProtKB.
Gene3D; 2.160.20.10; -; 1.
Gene3D; 2.60.40.10; -; 14.
Gene3D; 2.60.40.420; -; 1.
InterPro; IPR008972; Cupredoxin.
InterPro; IPR019316; G8_domain.
InterPro; IPR013783; Ig-like_fold.
InterPro; IPR014756; Ig_E-set.
InterPro; IPR002909; IPT_dom.
InterPro; IPR037524; PA14/GLEYA.
InterPro; IPR011658; PA14_dom.
InterPro; IPR006626; PbH1.
InterPro; IPR012334; Pectin_lyas_fold.
InterPro; IPR011050; Pectin_lyase_fold/virulence.
InterPro; IPR029927; PKHDL1.
PANTHER; PTHR44854; PTHR44854; 1.
Pfam; PF10162; G8; 2.
Pfam; PF07691; PA14; 1.
Pfam; PF01833; TIG; 14.
SMART; SM01225; G8; 2.
SMART; SM00429; IPT; 14.
SMART; SM00758; PA14; 1.
SMART; SM00710; PbH1; 10.
SUPFAM; SSF49503; SSF49503; 1.
SUPFAM; SSF51126; SSF51126; 2.
SUPFAM; SSF81296; SSF81296; 14.
PROSITE; PS51484; G8; 2.
PROSITE; PS51820; PA14; 1.
2: Evidence at transcript level;
Complete proteome; Glycoprotein; Membrane; Polymorphism; Receptor;
Reference proteome; Repeat; Signal; Transmembrane;
Transmembrane helix.
SIGNAL 1 20 {ECO:0000255}.
CHAIN 21 4243 Fibrocystin-L.
/FTId=PRO_0000318572.
TOPO_DOM 21 4210 Extracellular. {ECO:0000255}.
TRANSMEM 4211 4231 Helical. {ECO:0000255}.
TOPO_DOM 4232 4243 Cytoplasmic. {ECO:0000255}.
DOMAIN 31 129 IPT/TIG 1.
DOMAIN 146 255 IPT/TIG 2.
DOMAIN 270 361 IPT/TIG 3.
DOMAIN 337 492 PA14. {ECO:0000255|PROSITE-
ProRule:PRU01164}.
DOMAIN 1067 1151 IPT/TIG 4.
DOMAIN 1155 1234 IPT/TIG 5.
DOMAIN 1240 1322 IPT/TIG 6.
DOMAIN 1330 1469 IPT/TIG 7.
DOMAIN 1566 1649 IPT/TIG 8.
DOMAIN 1659 1743 IPT/TIG 9.
DOMAIN 1749 1828 IPT/TIG 10.
DOMAIN 1831 1910 IPT/TIG 11.
DOMAIN 1916 1997 IPT/TIG 12.
DOMAIN 1999 2085 IPT/TIG 13.
DOMAIN 2091 2176 IPT/TIG 14.
DOMAIN 2184 2304 G8 1. {ECO:0000255|PROSITE-
ProRule:PRU00817}.
REPEAT 2508 2530 PbH1 1.
REPEAT 2566 2588 PbH1 2.
REPEAT 2665 2687 PbH1 3.
REPEAT 2733 2756 PbH1 4.
DOMAIN 3036 3174 G8 2. {ECO:0000255|PROSITE-
ProRule:PRU00817}.
REPEAT 3293 3315 PbH1 5.
REPEAT 3355 3377 PbH1 6.
REPEAT 3416 3438 PbH1 7.
REPEAT 3471 3493 PbH1 8.
REPEAT 3527 3548 PbH1 9.
COMPBIAS 4188 4200 Poly-Ser.
CARBOHYD 122 122 O-linked (GalNAc...) threonine.
{ECO:0000255}.
CARBOHYD 445 445 O-linked (GalNAc...) threonine.
{ECO:0000255}.
CARBOHYD 1803 1803 O-linked (GalNAc...) threonine.
{ECO:0000255}.
CARBOHYD 1839 1839 O-linked (GalNAc...) threonine.
{ECO:0000255}.
CARBOHYD 2320 2320 O-linked (GalNAc...) threonine.
{ECO:0000255}.
CARBOHYD 3736 3736 O-linked (GalNAc...) threonine.
{ECO:0000255}.
VARIANT 373 373 W -> C (in dbSNP:rs16879428).
/FTId=VAR_038760.
VARIANT 440 440 Y -> H (in dbSNP:rs964307).
/FTId=VAR_038761.
VARIANT 923 923 H -> R (in dbSNP:rs4735133).
/FTId=VAR_038762.
VARIANT 943 943 Y -> H (in dbSNP:rs16879534).
/FTId=VAR_038763.
VARIANT 957 957 A -> E (in dbSNP:rs35375999).
/FTId=VAR_038764.
VARIANT 1192 1192 T -> A (in dbSNP:rs10093885).
/FTId=VAR_038765.
VARIANT 1514 1514 R -> S (in dbSNP:rs1673408).
/FTId=VAR_038766.
VARIANT 1539 1539 T -> R (in dbSNP:rs7820062).
/FTId=VAR_038767.
VARIANT 1965 1965 V -> L (in dbSNP:rs1673407).
{ECO:0000269|PubMed:12620974}.
/FTId=VAR_038768.
VARIANT 3050 3050 H -> Q (in dbSNP:rs1783147).
/FTId=VAR_038769.
VARIANT 3080 3080 V -> I (in dbSNP:rs10441509).
/FTId=VAR_038770.
VARIANT 3411 3411 I -> V (in dbSNP:rs16879659).
/FTId=VAR_038771.
VARIANT 3607 3607 D -> E (in dbSNP:rs9774677).
/FTId=VAR_038772.
VARIANT 3862 3862 L -> F (in dbSNP:rs16879693).
/FTId=VAR_038773.
VARIANT 4220 4220 V -> I (in dbSNP:rs1783174).
/FTId=VAR_038774.
CONFLICT 4061 4061 K -> N (in Ref. 4; CAB63761).
{ECO:0000305}.
SEQUENCE 4243 AA; 465734 MW; A3A50CA85C5DA500 CRC64;
MGHLWLLGIW GLCGLLLCAA DPSTDGSQII PKVTEIIPKY GSINGATRLT IRGEGFSQAN
QFNYGVDNAE LGNSVQLISS FQSITCDVEK DASHSTQITC YTRAMPEDSY TVRVSVDGVP
VTENNTCKGH INSWECTFNA KSFRTPTIRS ITPLSGTPGT LITIQGRIFT DVYGSNIALS
SNGKNVRILR VYIGGMPCEL LIPQSDNLYG LKLDHPNGDM GSMVCKTTGT FIGHHNVSFI
LDNDYGRSFP QKMAYFVSSL NKIAMFQTYA EVTMIFPSQG SIRGGTTLTI SGRFFDQTDF
PVRVLVGGEP CDILNVTENS ICCKTPPKPH ILKTVYPGGR GLKLEVWNNS RPIRLEEILE
YNEKTPGYMG ASWVDSASYI WLMEQDTFVA RFSGFLVAPD SDVYRFYIKG DDRYAIYFSQ
TGLPEDKVRI AYHSANANSY FSSPTQRSDD IHLQKGKEYY IEILLQEYRL SAFVDVGLYQ
YRNVYTEQQT GDAVNEEQVI KSQSTILQEV QVITLENWET TNAINEVQKI KVTSPCVEAN
SCSLYQYRLI YNMEKTVFLP ADASEFILQS ALNDLWSIKP DTVQVIRTQN PQSYVYMVTF
ISTRGDFDLL GYEVVEGNNV TLDITEQTKG KPNLETFTLN WDGIASKPLT LWSSEAEFQG
AVEEMVSTKC PPQIANFEEG FVVKYFRDYE TDFNLEHINR GQKTAETDAY CGRYSLKNPA
VLFDSADVKP NRRPYGDILL FPYNQLCLAY KGFLANYIGL KFQYQDNSKI TRSTDTQFTY
NFAYGNNWTY TCIDLLDLVR TKYTGTNVSL QRISLHKASE SQSFYVDVVY IGHTSTISTL
DEMPKRRLPA LANKGIFLEH FQVNQTKTNG PTMTNQYSVT MTSYNCSYNI PMMAVSFGQI
ITHETENEFV YRGNNWPGES KIHIQRIQAA SPPLSGSFDI QAYGHILKGL PAAVSAADLQ
FALQSLEGMG RISVTREGTC AGYAWNIKWR STCGKQNLLQ INDSNIIGEK ANMTVTRIKE
GGLFRQHVLG DLLRTPSQQP QVEVYVNGIP AKCSGDCGFT WDSNITPLVL AISPSQGSYE
EGTILTIVGS GFSPSSAVTV SVGPVGCSLL SVDEKELKCQ ILNGSAGHAP VAVSMADVGL
AQNVGGEEFY FVYQSQISHI WPDSGSIAGG TLLTLSGFGF NENSKVLVGN ETCNVIEGDL
NRITCRTPKK TEGTVDISVT TNGFQATARD AFSYNCLQTP IITDFSPKVR TILGEVNLTI
KGYNFGNELT QNMAVYVGGK TCQILHWNFT DIRCLLPKLS PGKHDIYVEV RNWGFASTRD
KLNSSIQYVL EVTSMFPQRG SLFGGTEITI RGFGFSTIPA ENTVLLGSIP CNVTSSSENV
IKCILHSTGN IFRITNNGKD SVHGLGYAWS PPVLNVSVGD TVAWHWQTHP FLRGIGYRIF
SVSSPGSVIY DGKGFTSGRQ KSTSGSFSYQ FTSPGIHYYS SGYVDEAHSI FLQGVINVLP
AETRHIPLHL FVGRSEATYA YGGPENLHLG SSVAGCLATE PLCSLNNTRV KNSKRLLFEV
SSCFSPSISN ITPSTGTVNE LITIIGHGFS NLPWANKVTI GSYPCVVEES SEDSITCHID
PQNSMDVGIR ETVTLTVYNL GTAINTLSNE FDRRFVLLPN IDLVLPNAGS TTGMTSVTIK
GSGFAVSSAG VKVLMGHFPC KVLSVNYTAI ECETSPAAQQ LVDVDLLIHG VPAQCQGNCT
FSYLESITPY ITGVFPNSVI GSVKVLIEGE GLGTVLEDIA VFIGNQQFRA IEVNENNITA
LVTPLPVGHH SVSVVVGSKG LALGNLTVSS PPVASLSPTS GSIGGGTTLV ITGNGFYPGN
TTVTIGDEPC QIISINPNEV YCRTPAGTTG MVDVKIFVNT IAYPPLLFTY ALEDTPFLRG
IIPSRGPPGT EIEITGSNFG FEILEISVMI NNIQCNVTMA NDSVVQCIVG DHAGGTFPVM
MHHKTKGSAM STVVFEYPLN IQNINPSQGS FGGGQTMTVT GTGFNPQNSI ILVCGSECAI
DRLRSDYTTL LCEIPSNNGT GAEQACEVSV VNGKDLSQSM TPFTYAVSLT PLITAVSPKR
GSTAGGTRLT VVGSGFSENM EDVHITIAEA KCDVEYSNKT HIICMTDAHT LSGWAPVCVH
IRGVGMAKLD NADFLYVDAW SSNFSWGGKS PPEEGSLVVI TKGQTILLDQ STPILKMLLI
QGGTLIFDEA DIELQAENIL ITDGGVLQIG TETSPFQHKA VITLHGHLRS PELPVYGAKT
LAVREGILDL HGVPVPVTWT RLAHTAKAGE RILILQEAVT WKPGDNIVIA STGHRHSQGE
NEKMTIASVS ADGINITLSN PLNYTHLGIT VTLPDGTLFE ARAEVGILTR NILIRGSDNV
EWNNKIPACP DGFDTGEFAT QTCLQGKFGE EIGSDQFGGC VMFHAPVPGA NMVTGRIEYV
EVFHAGQAFR LGRYPIHWHL LGDLQFKSYV RGCAIHQAYN RAVTIHNTHH LLVERNIIYD
IKGGAFFIED GIEHGNILQY NLAVFVQQST SLLNDDVTPA AFWVTNPNNT IRHNAVAGGT
HFGFWYRMNN HPDGPSYDRN ICQKRVPLGE FFNNTVHSQG WFGMWIFEEY FPMQTGSCTS
TVPAPAIFNS LTTWNCQKGA EWVNGGALQF HNFVMVNNYE AGIETKRILA PYVGGWGETN
GAVIKNAKIV GHLDELGMGS AFCTAKGLVL PFSEGLTVSS VHFMNFDRPN CVALGVTSIS
GVCNDRCGGW SAKFVDVQYS HTPNKAGFRW EHEMVMIDVD GSLTGHKGHT VIPHSSLLDP
SHCTQEAEWS IGFPGSVCDA SVSFHRLAFN QPSPVSLLEK DVVLSDSFGT SIIPFQKKRL
THMSGWMALI PNANHINWYF KGVDHITNIS YTSTFYGFKE EDYVIISHNF TQNPDMFNII
DMRNGSSNPL NWNTSKNGDW HLEANTSTLY YLVSGRNDLH QSQLISGNLD PDVKDVVINF
QAYCCILQDC FPVHPPSRKP IPKKRPATYN LWSNDSFWQS SRENNYTVPH PGANVIIPEG
TWIVADIDMP SMERLIIWGV LELEDKYNVG AAESSYREVV LNATYISLQG GRLIGGWEDN
PFKGDLKIVL RGNHTTQDWA LPEGPNQGAK VLGVFGELDL HGIPHSIYKT KLSETAFAGS
KVLSLMDAVD WQEGEEIVIT TTSYDFHQTE TRSIVKILHD HKILILNDSL SYTHFAEKYH
VPGTGESYTL AADVGILSRN IKIVGEDYPG WSEDSFGARV LVGSFTENMM TFKGNARISN
VEFYHSGQEG FRDSTDPRYA VTFLNLGQIQ EHGSSYIRGC AFHHGFSPAI GVFGTDGLDI
DDNIIHFTVG EGIRIWGNAN RVRGNLIALS VWPGTYQNRK DLSSTLWHAA IEINRGTNTV
LQNNVVAGFG RAGYRIDGEP CPGQFNPVEK WFDNEAHGGL YGIYMNQDGL PGCSLIQGFT
IWTCWDYGIY FQTTESVHIY NVTLVDNGMA IFPMIYMPAA ISHKISSKNV QIKSSLIVGS
SPGFNCSDVL TNDDPNIELT AAHRSPRSPS GGRSGICWPT FASAHNMAPR KPHAGIMSYN
AISGLLDISG STFVGFKNVC SGETNVIFIT NPLNEDLQHP IHVKNIKLVD TTEQSKIFIH
RPDISKVNPS DCVDMVCDAK RKSFLRDIDG SFLGNAGSVI PQAEYEWDGN SQVGIGDYRI
PKAMLTFLNG SRIPVTEKAP HKGIIRDSTC KYLPEWQSYQ CFGMEYAMMV IESLDPDTET
RRLSPVAIMG NGYVDLINGP QDHGWCAGYT CQRRLSLFHS IVALNKSYEV YFTGTSPQNL
RLMLLNVDHN KAVLVGIFFS TLQRLDVYVN NLLVCPKTTI WNAQQKHCEL NNHLYKDQFL
PNLDSTVLGE NYFDGTYQML YLLVKGTIPV EIHTATVIFV SFQLSVATED DFYTSHNLVK
NLALFLKIPS DKIRISKIRG KSLRRKRSMG FIIEIEIGDP PIQFISNGTT GQMQLSELQE
IAGSLGQAVI LGNISSILGF NISSMSITNP LPSPSDSGWI KVTAQPVERS AFPVHHVAFV
SSLLVITQPV AAQPGQPFPQ QPSVKATDSD GNCVSVGITA LTLRAILKDS NNNQVNGLSG
NTTIPFSSCW ANYTDLTPLR TGKNYKIEFI LDNVVGVESR TFSLLAESVS SSGSSSSSNS
KASTVGTYAQ IMTVVISCLV GRMWLLEIFM AAVSTLNITL RSY


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547, Yurok Circle
San Jose, CA 95123
CA 95123
Tel (408) 780-0908,
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Genprice Inc, Invoices and accounting
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San Jose, CA 95123




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NL850396268B01 KVK nummer 52327027
Kuiper 1
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