PKHL1_MOUSE
ID PKHL1_MOUSE Reviewed; 4249 AA.
AC Q80ZA4; Q99PS9;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2003, sequence version 1.
DT 03-AUG-2022, entry version 119.
DE RecName: Full=Fibrocystin-L;
DE AltName: Full=Polycystic kidney and hepatic disease 1-like protein 1;
DE Short=PKHD1-like protein 1;
DE AltName: Full=Protein D86;
DE Flags: Precursor;
GN Name=Pkhd1l1;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC STRAIN=C57BL/6J;
RX PubMed=12620974; DOI=10.1093/hmg/ddg068;
RA Hogan M.C., Griffin M.D., Rossetti S., Torres V.E., Ward C.J., Harris P.C.;
RT "PKHDL1, a homolog of the autosomal recessive polycystic kidney disease
RT gene, encodes a receptor with inducible T lymphocyte expression.";
RL Hum. Mol. Genet. 12:685-698(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RC TISSUE=Lymphocyte;
RA Sato H., Taniguchi M.;
RT "Novel protein secreted from lymphocytes.";
RL Submitted (FEB-2001) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Spleen;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q80ZA4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q80ZA4-2; Sequence=VSP_031226, VSP_031227;
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DR EMBL; AY219182; AAO60073.1; -; mRNA.
DR EMBL; AB055648; BAB32449.1; -; mRNA.
DR CCDS; CCDS84169.1; -. [Q80ZA4-1]
DR RefSeq; NP_619615.2; NM_138674.2. [Q80ZA4-1]
DR STRING; 10090.ENSMUSP00000129522; -.
DR GlyGen; Q80ZA4; 4 sites.
DR iPTMnet; Q80ZA4; -.
DR PhosphoSitePlus; Q80ZA4; -.
DR EPD; Q80ZA4; -.
DR MaxQB; Q80ZA4; -.
DR PaxDb; Q80ZA4; -.
DR PRIDE; Q80ZA4; -.
DR ProteomicsDB; 289659; -. [Q80ZA4-1]
DR ProteomicsDB; 289660; -. [Q80ZA4-2]
DR Antibodypedia; 26574; 16 antibodies from 9 providers.
DR DNASU; 192190; -.
DR Ensembl; ENSMUST00000209244; ENSMUSP00000147447; ENSMUSG00000038725. [Q80ZA4-1]
DR GeneID; 192190; -.
DR KEGG; mmu:192190; -.
DR UCSC; uc007vpx.1; mouse. [Q80ZA4-2]
DR UCSC; uc007vpy.1; mouse. [Q80ZA4-1]
DR CTD; 93035; -.
DR MGI; MGI:2183153; Pkhd1l1.
DR VEuPathDB; HostDB:ENSMUSG00000038725; -.
DR eggNOG; KOG3610; Eukaryota.
DR GeneTree; ENSGT00940000157594; -.
DR InParanoid; Q80ZA4; -.
DR OMA; RSFPQKM; -.
DR OrthoDB; 323806at2759; -.
DR PhylomeDB; Q80ZA4; -.
DR BioGRID-ORCS; 192190; 3 hits in 19 CRISPR screens.
DR ChiTaRS; Pkhd1l1; mouse.
DR PRO; PR:Q80ZA4; -.
DR Proteomes; UP000000589; Chromosome 15.
DR RNAct; Q80ZA4; protein.
DR Bgee; ENSMUSG00000038725; Expressed in ureteric bud trunk and 50 other tissues.
DR ExpressionAtlas; Q80ZA4; baseline and differential.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0120234; C:stereocilium coat; IDA:MGI.
DR GO; GO:0032426; C:stereocilium tip; IDA:MGI.
DR GO; GO:0007605; P:sensory perception of sound; IMP:MGI.
DR Gene3D; 2.160.20.10; -; 1.
DR Gene3D; 2.60.40.10; -; 14.
DR Gene3D; 2.60.40.420; -; 1.
DR InterPro; IPR008972; Cupredoxin.
DR InterPro; IPR019316; G8_domain.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR014756; Ig_E-set.
DR InterPro; IPR002909; IPT_dom.
DR InterPro; IPR037524; PA14/GLEYA.
DR InterPro; IPR011658; PA14_dom.
DR InterPro; IPR006626; PbH1.
DR InterPro; IPR012334; Pectin_lyas_fold.
DR InterPro; IPR011050; Pectin_lyase_fold/virulence.
DR InterPro; IPR029927; PKHDL1.
DR PANTHER; PTHR46769:SF4; PTHR46769:SF4; 3.
DR Pfam; PF10162; G8; 2.
DR Pfam; PF07691; PA14; 1.
DR Pfam; PF01833; TIG; 14.
DR SMART; SM01225; G8; 2.
DR SMART; SM00429; IPT; 10.
DR SMART; SM00758; PA14; 1.
DR SMART; SM00710; PbH1; 12.
DR SUPFAM; SSF49503; SSF49503; 1.
DR SUPFAM; SSF51126; SSF51126; 1.
DR SUPFAM; SSF81296; SSF81296; 14.
DR PROSITE; PS51484; G8; 2.
DR PROSITE; PS51820; PA14; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Glycoprotein; Membrane; Reference proteome; Repeat;
KW Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1..20
FT /evidence="ECO:0000255"
FT CHAIN 21..4249
FT /note="Fibrocystin-L"
FT /id="PRO_0000318573"
FT TOPO_DOM 21..4222
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 4223..4243
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 4244..4249
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 31..132
FT /note="IPT/TIG 1"
FT DOMAIN 146..255
FT /note="IPT/TIG 2"
FT DOMAIN 270..361
FT /note="IPT/TIG 3"
FT DOMAIN 337..492
FT /note="PA14"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01164"
FT DOMAIN 1067..1153
FT /note="IPT/TIG 4"
FT DOMAIN 1155..1234
FT /note="IPT/TIG 5"
FT DOMAIN 1240..1323
FT /note="IPT/TIG 6"
FT DOMAIN 1329..1468
FT /note="IPT/TIG 7"
FT DOMAIN 1565..1648
FT /note="IPT/TIG 8"
FT DOMAIN 1658..1742
FT /note="IPT/TIG 9"
FT DOMAIN 1748..1827
FT /note="IPT/TIG 10"
FT DOMAIN 1830..1909
FT /note="IPT/TIG 11"
FT DOMAIN 1915..1996
FT /note="IPT/TIG 12"
FT DOMAIN 1998..2084
FT /note="IPT/TIG 13"
FT DOMAIN 2090..2175
FT /note="IPT/TIG 14"
FT DOMAIN 2183..2303
FT /note="G8 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00817"
FT REPEAT 2484..2506
FT /note="PbH1 1"
FT REPEAT 2507..2529
FT /note="PbH1 2"
FT REPEAT 2565..2587
FT /note="PbH1 3"
FT REPEAT 2664..2686
FT /note="PbH1 4"
FT REPEAT 2732..2755
FT /note="PbH1 5"
FT DOMAIN 3035..3173
FT /note="G8 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00817"
FT REPEAT 3292..3314
FT /note="PbH1 6"
FT REPEAT 3354..3376
FT /note="PbH1 7"
FT REPEAT 3415..3437
FT /note="PbH1 8"
FT REPEAT 3470..3492
FT /note="PbH1 9"
FT REPEAT 3493..3514
FT /note="PbH1 10"
FT REGION 4183..4208
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 1297
FT /note="O-linked (GalNAc...) threonine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1359
FT /note="O-linked (GalNAc...) threonine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1838
FT /note="O-linked (GalNAc...) threonine"
FT /evidence="ECO:0000255"
FT CARBOHYD 3735
FT /note="O-linked (GalNAc...) threonine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1926..1944
FT /note="LPGTEVEITGSNLGFAISD -> TPASTCLFIYCIDVMLQLY (in
FT isoform 2)"
FT /evidence="ECO:0000303|Ref.2"
FT /id="VSP_031226"
FT VAR_SEQ 1945..4249
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|Ref.2"
FT /id="VSP_031227"
SQ SEQUENCE 4249 AA; 464732 MW; 797F6AE92407B148 CRC64;
MGHLWLSGTW FLFGLLWCAA DSHKGSSETI PKVTEVIPKY GSINGATRLT IKGEGFSQAS
QFNYGADNTE LGNHVQLVSS FQSITCDVEK DSSHSTQITC YTRAMPEDTY SVRVSVDGVP
VAENNTCKGV ASSWACSFST KSFRTPTIRS ITPLSGTPGT LITIKGRLFT DVYGSNTALS
SNGRNVRILR IYIGGMPCEL LIPHSDDLYG LKLDHANGDT GSVTCKTTGT YIGHHNVSFI
LDSDYGRSFP EKMTYFVSSL NKISMFQTYP EVVMVSPSKG STEGGTLLTI HGHFFDQTDL
PVRVLVGGQA CAILNVTENT IYCKTPPKPH ILKATYPGGR GLKVEVWNNS RPAHLEDILE
YNEHTPGYMG ATWTDSASYV WPIEQDTFVA RISGFLVPPD SDVYRFYIRG DDRYAIYFSQ
TGRTEDKVRI AYYSGNANTY FSNSTQRSDE IHLQKGKEYY IEILLQEYTL SAFVDVGLYQ
YKNVFTEQQT GDALNEEQVI KSQSTVVPEV QIITLENWET ADVTNEVQQV TVTSPCVGAN
SCSLSQYRFI YNMEKTVWLP ADASDFTLKS ALNDLWSIKP DSVQVTSKRD LQSYIYTITF
VSTRGDFDLL GYEVFEGSNV TLSITEQTKG KPNLETFTLN WDGIASKPLT PESSEAEFQV
AVEEMVSAKC PPEIAHLEEG FLVKYFRDYE TDFELEHINR GQKTAETDAY CGRYSLKNPA
VLFDSTDVKP NKSPYGDILL FPYNQLCLAY KGSLANFIDL KFKYQDSGKI IRSADVQFEY
NFASGNKWTY TCIDLLDFLQ TKYAGTSFSL QRITLQKSSE FQSIYVDAVY IGQTPTVSVL
DDMPKRRPPA LANKGIFLKH FQVNRTKLNG SAMTIQYSVT ITSYNCSHNI PMMAVSFGQI
ITNETKNELV YRGNNWPGES KIRIQKIQEA SPPISGSFDV QAYGHTLKGI PAAVPAADLQ
FALQSLEEIE QVSVNREGTC AGYSWSIRWT SPRGKQPLLQ INDSNIIGEK ANVTVTTIKE
GGLFRQRIPG DMLRTLNQQP QVEVYVNGIP AKCSGDCGFT WDAMITPLIL TTTPSEGSYA
ESTILTIAGS GFSPTSAVSV SVGSTRCSLL SVEENEIKCQ ILNGSAGHVP VAVSIADVGL
AQNLEGEGSH FIYRSQISHV WPDSGSLAGG TLLTISGFGF SENSTVLVGN ETCNVIEGDL
NRITCRTSKR IEGTVDISVI TNGIQVTAKD SFSYSCLQTP VVTDFSPKER TVLGKVNLTI
KGYNFGNELA QNTVYVGRKH CQVLHSNFTD ITCLLPTLPP GKHDIYVKVR NWGLASTRNK
LNASILYILE VIHMFPQRGS LYGGTEITIM GFGFSTIPTE NSVLLGSFPC DITSSSENVI
KCTLHSTGTV FRITNNGSHL VHGLGYAWSP SVLNVTVGDT VVWSWQAHPF LRGIGYRIFS
VSSPGSVTYD DKGFTNGRQK SASGSFSYQF TSPGIYYYSS GYVDEAHSIS LQGVINVFPA
EARHIPLYLF VGNIEATYVP AGPAHLQLAS TAAGCLATEP LCGLNDTRVK HSNKLFFELS
NCISPSIINI TPSTGTANEL ITIIGHGFSS LPCANKVTIG SYPCVVEESS ENSIICHIDP
QNSMNVGIRE IVTLIVYNLG TAINTLTKAF DRRFVLLPNI DMVMPKAGST TGMTRVTIQG
SGFMSSPEGV EVFMGDFPCK VLSVTYTAIE CETSPAPQQL VLVDILIHGV PAQCQSNCSF
SYLENIAPYV TGIFPNSIQG YGNVLIKGER FGTVLEEISI FIGSQQFRVI DVNENNITVL
MTPLEAGLHS LSVVVGSKGL ALGNLTISSP AVASVSPTSG SIAGGTTLMI TGNGFSPGNT
TVTVGDQPCQ ITFISSSEVY CSTPAGRAGT ANLKISVNAI IYPPLSFTYA MEDTPFLKRI
IPNRGLPGTE VEITGSNLGF AISDVSVMIK ESVCNVTTVN DTVLQCTVGE HAGGIFPVTM
LHKTKGSAVS SVAFEYPLSI QNIYPTQGSF GGGQTLTVTG MGFDPWNSTI LVCNSECAVD
KLRSNSTTLF CVIPPNNGKG HDQVCGVSVV NGKDSSHSTK LFTYTLSLTP LITEISPRRG
STAGGTRLTV TGSGFSENTQ GVQVFVGNSK CDIQYSNKTH IVCMTSVHVP SGWVPVHVNI
KNIGLAKLEN ADFLYADVWS ANSSWGGSPP PEEGSLAVIT KGQIILLDQS TPILKMLLIQ
GGTLIFDEAN IELQAENILI TDGGVLQIGT EASPFQHRAV ITLHGHLRSP ELPVYGAKTL
GVREGTLDLH GLPIPVVWTR LTHTANAGEW TLTVQEAVTW KAGDNIVIAS TGHRHSQAEN
EKRTIASVSA DGMHITLTKP LNYTHLGITT TLPDGTVFEA RAEVGILTRN ILIRGSDNVE
WNDKIPSCPD GFDTGEFATQ TCLQGKFGEE MGSDQFGGCI MLHAPLPGAD MVTGRIEYVE
VFHAGQSFRL GRYPIHWHLL GDLQFKSYVK GCAIHQSYNR AITIHNTHHL LVERNIIYDI
KGGAFFIEDG IEHGNILQYN LAVFVQQSTS LLNDDVTPAA FWVTNPNNTI RHNAAAGGTH
FGFWYRMNDH PDGPSFDRNI CQKRIPLGEF FNNTVHSQGW FGLWIFEEYF PMQTGSCTST
VPVPAIFNSL TVWNCQKGAE WVNGGALQFH NFVMVNNNEA GIETKRILAP YVGGWGESNG
AVIKNAKIVG HLDELGMGPT FCTSKGLVLP FSQGLTVSSV HFMNFDRHAC VALGVTSITG
VCNDRCGGWS AKFVGIRYFH APNKGGFRWE HEAVLIDVDG SLTGHRGHTV VPHSSLLDPS
HCTQEPAWSI GFPGSICDAS VSFHRLAFNK PSPVSLLEKD VVLSDSFGTS IVPFQKKRLT
HMSGWMALIP NANHINWYFK GVEHLTNISY TSTFYGFKEE DYVIISHNFT QNPDMFNVVD
MRNGSANPLN WNSSKNGDWH LEANTSTLYY LVSGRSDLPQ SQPISGTLDP GVKDVIINFQ
AYCCVLQDCF PVHPPSRKPI PRKRPAAYNL WSNESFWQSS PENNYTVPRP GANVIIPEGT
WIVADVDIPP VERLIIWGVL EMEDKSEIGV AGPTYRRVVL NATYISVQGG RLIGGWEDNP
FKGELQIVLR GNHSTPEWAF PDGPNQGAKV LGVFGELDLH GLPHSVYKTK LLETAEAGSK
ILSLVDAVDW QEGEDVVITT TSYDLHQTEI RRIAKILHGH KILILNDSLS YTHLAERQWI
SGTAQSYTLS ADVGILSRNI KIVGDDYSVL SKDSFGARIL VGSFTGNMMT FKGNARISNV
EFHHSGQEGY RDSTDPRYAV TFLNLGQIQD HGLSYVRGCA FHHVFSPAIG VFGTDGVDID
DNIIYFTVGE GIRIWGDANR VRGNLVTLSV WPGTYQNRKD LSSTLWHAAI EINRGTNTVL
QNNVVAGFGR VGYRIDGEPC SSQANSMENW FNNEAHGGLY GIYMNQDGLP GCSLIQGFTI
WTCWDYGIYF QTTESVHIYN VTLVNNGMSI FSMVYMPPSV SHKISSKTVK IKNSLIVGSS
PEFNCSDVLT NDSPDVELTS AHRSSRPPSG GRSGICWPTF ASAHNMAPRK PHAGIMSYNA
ISGLLHVSDS TFVGFKDVCS GETNVIFITN PLNEDLQHPI HVKNVQLIDT IEQSKVFIHR
PDISKVNPSD CVDMVCDAKR KSFLRDLDGS FLGNSGSVIP QAEYEWDGNS QLGIGDYRIP
KAMLTYLNGS RIPVTEKAPH KGIIRDATCK YIPEWQSYQC SGMEYAMMVL ESLDSDTETR
RLSPVAIMSN GYVDLINGPQ DHGWCAGYTC QRRLSLFHGI VALNKKYEVY FTGTSPQNLR
LMLLNVEHNK AVLVGIFFST LQRLDVYVNN SLVCPKNTAW NAQKKHCELE RHLSTEQFLP
NLGSTVPGEN YFDRTYQMLY LFLKGTTPVE VHTATVIFVS FHLPVMTADE FFSSHNLVRN
LALFLKIPSD KIRVSRIIGA SLRKKRSTGH IMEFEIGAAP TQFLSNSTTG QMQLSELQEI
TDSLGQAVVL GKISTILGFN ISSMSITSPI PQPTDSGWIK VTAQPVERSA FPVHYLALVS
SLSVVAQPVA AQPGQPFPQQ PSVKAVDPEG NCVSVGITSL TLKAILKDSN NNQVGGLSGN
TTIPFSTCWA NYTDLTPHRT GKNYKIEFVL DNTVRVDSRP FSLSAQSVPG GSGSSPGSGS
SSSGHSKASS VGTPVQTLAV ITACLVGRLL LLEVFMAAVF ILNTTVGIN
