ID H2PJC2_PONAB Unreviewed; 4074 AA.
AC H2PJC2; A0A2J8SQ15;
DT 21-MAR-2012, integrated into UniProtKB/TrEMBL.
DT 25-MAY-2022, sequence version 2.
DT 27-MAR-2024, entry version 70.
DE SubName: Full=PKHD1 ciliary IPT domain containing fibrocystin/polyductin {ECO:0000313|Ensembl:ENSPPYP00000018684.3};
DE SubName: Full=PKHD1 isoform 1 {ECO:0000313|EMBL:PNJ22870.1};
GN Name=PKHD1 {ECO:0000313|Ensembl:ENSPPYP00000018684.3};
GN ORFNames=CR201_G0041322 {ECO:0000313|EMBL:PNJ22870.1};
OS Pongo abelii (Sumatran orangutan) (Pongo pygmaeus abelii).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Pongo.
OX NCBI_TaxID=9601 {ECO:0000313|Ensembl:ENSPPYP00000018684.3, ECO:0000313|Proteomes:UP000001595};
RN [1] {ECO:0000313|Ensembl:ENSPPYP00000018684.3, ECO:0000313|Proteomes:UP000001595}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Wilson R.K., Mardis E.;
RT "A 6x draft sequence assembly of the Pongo pygmaeus abelii genome.";
RL Submitted (FEB-2008) to the EMBL/GenBank/DDBJ databases.
RN [2] {ECO:0000313|EMBL:PNJ22870.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Susie {ECO:0000313|EMBL:PNJ22870.1};
RA Pollen A., Hastie A., Hormozdiari F., Dougherty M., Liu R., Chaisson M.,
RA Hoppe E., Hill C., Pang A., Hillier L., Baker C., Armstrong J.,
RA Shendure J., Paten B., Wilson R., Chao H., Schneider V., Ventura M.,
RA Kronenberg Z., Murali S., Gordon D., Cantsilieris S., Munson K., Nelson B.,
RA Raja A., Underwood J., Diekhans M., Fiddes I., Haussler D., Eichler E.;
RT "High-resolution comparative analysis of great ape genomes.";
RL Submitted (DEC-2017) to the EMBL/GenBank/DDBJ databases.
RN [3] {ECO:0000313|Ensembl:ENSPPYP00000018684.3}
RP IDENTIFICATION.
RG Ensembl;
RL Submitted (NOV-2023) to UniProtKB.
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DR EMBL; NDHI03003556; PNJ22870.1; -; Genomic_DNA.
DR STRING; 9601.ENSPPYP00000018684; -.
DR Ensembl; ENSPPYT00000019425.3; ENSPPYP00000018684.3; ENSPPYG00000016702.3.
DR eggNOG; ENOG502QR85; Eukaryota.
DR GeneTree; ENSGT00940000160697; -.
DR HOGENOM; CLU_000057_1_0_1; -.
DR OMA; QSCAINV; -.
DR OrthoDB; 4766at2759; -.
DR TreeFam; TF329582; -.
DR Proteomes; UP000001595; Chromosome 6.
DR GO; GO:0097731; C:9+0 non-motile cilium; IEA:Ensembl.
DR GO; GO:0016324; C:apical plasma membrane; IEA:Ensembl.
DR GO; GO:0005813; C:centrosome; IEA:Ensembl.
DR GO; GO:0036064; C:ciliary basal body; IEA:Ensembl.
DR GO; GO:0005783; C:endoplasmic reticulum; IEA:Ensembl.
DR GO; GO:0070062; C:extracellular exosome; IEA:Ensembl.
DR GO; GO:0005794; C:Golgi apparatus; IEA:Ensembl.
DR GO; GO:0072686; C:mitotic spindle; IEA:Ensembl.
DR GO; GO:0048471; C:perinuclear region of cytoplasm; IEA:Ensembl.
DR GO; GO:0048754; P:branching morphogenesis of an epithelial tube; IEA:Ensembl.
DR GO; GO:0045216; P:cell-cell junction organization; IEA:Ensembl.
DR GO; GO:0060271; P:cilium assembly; IEA:Ensembl.
DR GO; GO:0000132; P:establishment of mitotic spindle orientation; IEA:Ensembl.
DR GO; GO:0006874; P:intracellular calcium ion homeostasis; IEA:Ensembl.
DR GO; GO:0001822; P:kidney development; IEA:Ensembl.
DR GO; GO:1904036; P:negative regulation of epithelial cell apoptotic process; IEA:Ensembl.
DR GO; GO:0051898; P:negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; IEA:Ensembl.
DR GO; GO:0050679; P:positive regulation of epithelial cell proliferation; IEA:Ensembl.
DR GO; GO:0010824; P:regulation of centrosome duplication; IEA:Ensembl.
DR GO; GO:1904054; P:regulation of cholangiocyte proliferation; IEA:Ensembl.
DR GO; GO:0070372; P:regulation of ERK1 and ERK2 cascade; IEA:Ensembl.
DR GO; GO:0090175; P:regulation of establishment of planar polarity; IEA:Ensembl.
DR GO; GO:0032006; P:regulation of TOR signaling; IEA:Ensembl.
DR CDD; cd00603; IPT_PCSR; 6.
DR Gene3D; 2.60.40.10; Immunoglobulins; 6.
DR Gene3D; 2.160.20.10; Single-stranded right-handed beta-helix, Pectin lyase-like; 2.
DR InterPro; IPR039448; Beta_helix.
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; IPR006626; PbH1.
DR InterPro; IPR012334; Pectin_lyas_fold.
DR InterPro; IPR011050; Pectin_lyase_fold/virulence.
DR PANTHER; PTHR46769:SF1; FIBROCYSTIN; 1.
DR PANTHER; PTHR46769; POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 (AUTOSOMAL RECESSIVE)-LIKE 1; 1.
DR Pfam; PF13229; Beta_helix; 1.
DR Pfam; PF10162; G8; 2.
DR Pfam; PF01833; TIG; 8.
DR SMART; SM01225; G8; 2.
DR SMART; SM00429; IPT; 7.
DR SMART; SM00710; PbH1; 10.
DR SUPFAM; SSF56988; Anthrax protective antigen; 1.
DR SUPFAM; SSF81296; E set domains; 6.
DR SUPFAM; SSF51126; Pectin lyase-like; 2.
DR PROSITE; PS51484; G8; 2.
DR PROSITE; PS51820; PA14; 1.
PE 4: Predicted;
KW Glycoprotein {ECO:0000256|ARBA:ARBA00023180};
KW Membrane {ECO:0000256|SAM:Phobius};
KW Reference proteome {ECO:0000313|Proteomes:UP000001595};
KW Repeat {ECO:0000256|ARBA:ARBA00022737}; Signal {ECO:0000256|SAM:SignalP};
KW Transmembrane {ECO:0000256|ARBA:ARBA00022692, ECO:0000256|SAM:Phobius};
KW Transmembrane helix {ECO:0000256|ARBA:ARBA00022989,
KW ECO:0000256|SAM:Phobius}.
FT SIGNAL 1..17
FT /evidence="ECO:0000256|SAM:SignalP"
FT CHAIN 18..4074
FT /evidence="ECO:0000256|SAM:SignalP"
FT /id="PRO_5041117722"
FT TRANSMEM 3859..3882
FT /note="Helical"
FT /evidence="ECO:0000256|SAM:Phobius"
FT DOMAIN 322..485
FT /note="PA14"
FT /evidence="ECO:0000259|PROSITE:PS51820"
FT DOMAIN 1932..2053
FT /note="G8"
FT /evidence="ECO:0000259|PROSITE:PS51484"
FT DOMAIN 2747..2873
FT /note="G8"
FT /evidence="ECO:0000259|PROSITE:PS51484"
FT REGION 3889..3925
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 3908..3925
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 4074 AA; 446677 MW; 6563D6D39E2118AC CRC64;
MTAWLISLMS IEVLLLAVPH LSLHIEPEEG SLAGGTWITV IFDGLELGVL YPNNGSQLEI
HLVNVNMVVP ALRSIPCDVF PVFLDLPVVT CRTRSVLSEA HEGLYFLEAY FRGQLVSSPN
PGPRDSCTFK FSKAQTPIVH HVYPPSGVPG KLIHVYGWII TGRLETFDFD AEYIDSPVIL
EAQGDKWVTP CSLINRQTGR CYPIQEDHGL GTLQCRVEGD YIGSQNVSFS VFNKGKSMVH
KKAWLISAKQ DLFLYQTHSE ILSVFPETGS LGGRTDITIT GDFFDSSAQV TIAGIPCDIR
HVSPRKIECT TRAPGKDVRL TTPQPGNRGL LFEVGDAVEG LELTEATPGY RWQIVPNASS
PFGFWSQEGQ PFRARLSGFF VAPETNNYTF WIQADSQASL HFSWSEEPRT KVKVASISVG
TADWFDSWEQ NRDEGTWQQK TPKLELLGGA KYYLEAEHHG IAPSRGMRIG VQIHNTWLNP
DVVTTYLREK HQIRVQAQRL PEVQVLNVSG RGNFFLTWDN VSSQPIPANA TAHLIQTNIE
ELLAVKCKLE PLWANILLRL GFEQGPEVSN SDGDLISGTE PFCGRFSLCQ PRHLVLTPPA
AQKGYWLDQY THLCLAYKGH MNKILKMTVS FTIGFQNMVK NTTCDWSLTR TSPESWQFHC
TDLWETCVRC SGDLQPPPAN SPVLVHQIDL LPLAQETGLF YVDEIIIADT NVTVSQADSG
TARPGGNLVE SVSVVGSPPV YSVTSWLAGC GTELPLITAR SVPTEGTEEG SGLVLVTTQR
RQWTSPPLGG HFRIQLPNTV ISDVPVQISA HHLQQLLQNN ANDFTSRYLN ASDFTVKEDL
YTCYEHVWTL SWSTQIGDLP NFIRVSDGNL TGVNPAAAMR VVYDGGVFLG PIFGDMLATA
NQHSQVVVRV NDVPAHCPGS CSFQYLQGST PCVHSVWYSI DGDINLMIYI TGTGFSGDSQ
FLQVTVNKTN CKVIFSNQTN VVCQTDLLPV GMHRILMLVR PSGLAISATG EDLFLNVEPR
LDMVEPSRAA DIGGLWATIR GSSLEGVSLI LFGSYSCAIN VTTSNSSRIQ CKVPPRGKDG
HIVNVTVIRG DHFAVLPRAF TYVSSLNPVI VTLSRNTSNI AGGETLVIGV ARLVNYTDMD
VEVHVQDALA PVHTQSAWGL EVALPPLPAG LHRISVSING VSIRSQGVDL HIQYLTEVFS
IEPCCGSLLG GTILSISGIG FSRDPALVWV LVGNRSCDIV NLTEVSIWCE TLPAPQIPHA
DTPTVPAAVE VWAGNRSFAH GPSPSLVGKG FTFMYEAAAT PVVTAMQGEI TNSSLSLHVG
GSNLSNSVIL LGNLNCDVET QSFQGNASLS GCSIPLHSLE AGIYPLQVCQ KQMGFANMSV
VPQQFAVMPR IMAIFPSQGS ACGGTILTVR GLLLNSRRRS VRVDLSGPFT CVILSLGDHT
ILCQVSLEGD PLPGASFSLN VTVLVNGLTS ECQGNCALFI REEASPVMDA LSTNTSGSLT
TVLIRGQRLA TTADEPMVFV DDQLPCNVTF LNASHVVCQT RDLAPGPHYL SVFYTRNGYA
CSGNVSRHFY IMPQVFHYFP KNFSMHGGSL LTIEGTGLRG QNTTSVYIDQ QACLTVSIGA
ELIRCIVPTG NGSVALEIEV DGLWRHIGVI GYNNAFTPEL ISISQSDDIL TFAVAQISGA
ANIDIFIGTS PCMGVSGNHT VLQCVVPSLP AGEYHVRGYD CIRGWASSAL VFTSRVIITA
VTENFGCLGG RLVHVFGAGF SPGNVSAAVC GAPCRVLANA TVSAFSCLVL PLDVSLAFLC
GLKDEEDSCE AARHTYVQCD LTVAVGMEQL LESWPYLYIC EESSQCLFVP DHWAESMSPS
FSGLFISPKV ERDEVLIYNS SCNITMETEA EMECETPNQP ITVKITEIRK RWGQNTQGNF
SLQFCRRWSR THSWFPERLP QDGDNVTVEN GQLLLLDTNT SILNLLHIKG GKLIFMAPGP
IELRAHAILV SDGGELRIGS EDKPFQGRAQ ITLYGSSYST PFFPYGVKFL AVRNGTLSLH
GSLPEVIVTS LRATAHAQDT VLALEDAVDW HPGDEVVIIS GTGVEGAKPM EEIVTVETVQ
DTDLYLKSPL RYSHNFTENW VAGEQHILKA TVALLSRSIT IQGNLTNERE KLLVSCQEAN
APEGNLQHCL YSMSEKILGS RDMGARVIVQ SFPEEPSQVQ LKGVQFRVLG QAFHKHLSSL
TLVGAMRESF IQGCTVRNSF SRGLSMCGTL GLKVDSNVFY NILGHALLVG TCMEMRYISW
EAIHGRKDDW SGHGNIIRNN VIIRVSGAEG LSNPEMLTPS GIYIRSPTNV IEGNRVCGAG
YGYFFHLMTN KTSQAPLLSF TQNIAHSCTR YGLFVYPKFQ PPWDNVTGTT LFQSFTVWES
AGGAQIFRSS NLRLKNFQVY SCRDFGIDIL ESDANTSVTD SLLLGHFAHK GSLCMSSGIK
TPKRWELMVS NTTFVNFDLI NCVAIRTCSD CSQGQGGFTV KTSQLKFTNS SNLVAFPFPH
AAILEDLDGS LSGKNRSHIL ASMETLSPSC LVNASFGRVV HGSACGRGVL FHRMSIGLAH
TPEVYYDLTM TDSRNKTTTV NYVCDTLSNP HGWMALLVDQ ETYSLQSENL WINRSLQYSA
TFDNFAPGNY LLLVHTDLPP YPDILLRCGS RVGLSFPFLP SPGQNQGCDW FFNSQLRQLT
YLVSGEGQVQ VILRVKEGMP PTISASTSAP ESALKWSLPE TWQGVEEGWG GYNNTIPGPG
DDVLILPNRT VLVDTDLPFF KGLYVMGTLD FPVDRSNVLS VACMVIAGGE LKVGTLENPL
EKEQKLLILL RASEGVFCDR MNGIHIDPGT IGVYGKVQLY SAYPKNSWTH LGADIASGNE
RIIVEDAVDW RPHDKIVLSS SSYEPHEAEV LTVKEVKGHH VRIYEQLKHR HIGSVHVTED
GRHIRLAAEV GLLTRNIQIQ PDVSCRGRLF VGSFRKSSGE EFSGVLQLLN VEIQNFGSPL
YSSVEFSNVS AGSWIISSTL HQSCGGGIHA AASHGVLLND NIVFGTTGHG IDLEGQAYTV
TNNLVVLMTQ PAWSTIWVAG IKVNQVKDIN LHGNVVAGSE RLGFHIRGHK CSSCELLWSD
NVAHSNLHGL HLYKESGLDN CTRISGFLAF KNFDYGAMLH VENSVEIENI TLVDNTIGLL
AVVYVFSAPQ NSIKKVQIVL RNSVIVATSS SFDCIQDKVK PHSANLTSTD RAPSNPRGGR
VGILWPVFTS EPNQWPQEPW HKVRNDRSIS GIMKLQDVTF SSFVKSCYNN DLDVCILPNA
ENSGIMHPIT AERTRMLKIK DKNKFYFPSL QPRKDLGKVV CPELDCVSPR KYLFKDLDGR
ALGLPPPVSV FPKTEAEWTA SFFNAGTFRE EQKCTYRFLM QGFICKQTDQ VVLILDSTDA
IWAIQKLYPV VSVTSGFVDV FSSVNANIPC STSGSVSTFY SILPTRQISK VCFMDQTPQV
LRFFLLGNKS TSKLLLAVFY HELQSPHVFL GESFIPPTLV QSASLLLNES IGANYFNIMD
NLLYVVLQGE EPIEIRSGVS IHLALTVMVS VLEKGWEIVI LERLTNFLQI GRNQIRFIHE
MPGHEETLKA IADNRAKRKR NCPTVTCTSH YRRVGQRRPL MMEMNSYRAS PPTTVETISK
VIVIEIGDSP TVRSTGTISS LSSNKLQNLA HQVITAQQTG VLENVLNMTI GALLVTQSKG
VIGYGNTSSF KTGNLIYIRP YALSILVQPS DGEVGNELPV QPQLVFLDGQ NRRVESLGPP
SEPWTISASL EGASDSVLKG CTQAETQDGY VSFYNLAVLI SGSNWHFIFT VTSPPGVNFT
ARSKPFAVLP VTRKEKSTII LAASLSSVAS WLALSCLVCC WLKRSKSRKT KPEEIPESQT
NNQNNHIHIS SKRRESQGPK KEDTVVGEDM RMRVMLGKVN QSPHQLMNGV SRRKVSRHIV
REEEAAVPAP GTTGITSHGH ICAPGAPAQQ MYLQETGNWK EGQEQLLRYQ LAGQDQLLLL
CPDFRQERQQ LPGQSRLSKQ SGSLGLSQEK KASCGATEAF CLHSVHPETI QEQL
//
