PDZD7_PONAB
ID PDZD7_PONAB Reviewed; 1005 AA.
AC Q5RBI7; A0A2J8XYB2;
DT 16-AUG-2005, integrated into UniProtKB/Swiss-Prot.
DT 05-DEC-2018, sequence version 2.
DT 03-AUG-2022, entry version 63.
DE RecName: Full=PDZ domain-containing protein 7;
GN Name=PDZD7; Synonyms=PDZK7;
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;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Brain cortex;
RG The German cDNA consortium;
RL Submitted (NOV-2004) to the EMBL/GenBank/DDBJ databases.
CC -!- FUNCTION: In cochlear developing hair cells, essential in organizing
CC the USH2 complex at stereocilia ankle links. Blocks inhibition of
CC adenylate cyclase activity mediated by ADGRV1.
CC {ECO:0000250|UniProtKB:E9Q9W7}.
CC -!- SUBUNIT: Homodimerizes (via PDZ2 domain). Component of USH2 complex,
CC composed of ADGRV1, PDZD7, USH2A and WHRN. Interacts (via PDZ domains)
CC with WHRN; the interaction is direct (By similarity). Interacts with
CC USH1G. Interacts with ADGRV1 (via the cytoplasmic region). Interacts
CC with USH2A (via the cytoplasmic region) (By similarity). Interacts with
CC MYO7A (via MyTH4-FERM domains) (By similarity).
CC {ECO:0000250|UniProtKB:E9Q9W7, ECO:0000250|UniProtKB:Q9H5P4}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium
CC {ECO:0000250|UniProtKB:Q9H5P4}. Nucleus {ECO:0000250|UniProtKB:Q9H5P4}.
CC Cell projection, stereocilium {ECO:0000250|UniProtKB:E9Q9W7}.
CC Note=Localizes at the ankle region of the stereocilia.
CC {ECO:0000250|UniProtKB:E9Q9W7}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q5RBI7-2; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5RBI7-1; Sequence=VSP_059944;
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DR EMBL; NDHI03003286; PNJ87003.1; -; Genomic_DNA.
DR EMBL; CR858660; CAH90873.1; -; mRNA.
DR RefSeq; NP_001125499.1; NM_001132027.1.
DR AlphaFoldDB; Q5RBI7; -.
DR SMR; Q5RBI7; -.
DR GeneID; 100172408; -.
DR KEGG; pon:100172408; -.
DR CTD; 79955; -.
DR InParanoid; Q5RBI7; -.
DR OrthoDB; 168224at2759; -.
DR Proteomes; UP000001595; Unplaced.
DR GO; GO:0005929; C:cilium; IEA:UniProtKB-SubCell.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0002141; C:stereocilia ankle link; ISS:UniProtKB.
DR GO; GO:0002142; C:stereocilia ankle link complex; ISS:UniProtKB.
DR GO; GO:0032420; C:stereocilium; ISS:UniProtKB.
DR GO; GO:0060117; P:auditory receptor cell development; ISS:UniProtKB.
DR GO; GO:0060088; P:auditory receptor cell stereocilium organization; ISS:UniProtKB.
DR GO; GO:0050910; P:detection of mechanical stimulus involved in sensory perception of sound; ISS:UniProtKB.
DR GO; GO:0045184; P:establishment of protein localization; ISS:UniProtKB.
DR CDD; cd07358; HN_PDZD7_like; 1.
DR Gene3D; 2.30.42.10; -; 3.
DR InterPro; IPR001478; PDZ.
DR InterPro; IPR036034; PDZ_sf.
DR InterPro; IPR042786; PDZD7_HN-like.
DR Pfam; PF00595; PDZ; 3.
DR SMART; SM00228; PDZ; 3.
DR SUPFAM; SSF50156; SSF50156; 3.
DR PROSITE; PS50106; PDZ; 3.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell projection; Cilium; Nucleus; Reference proteome;
KW Repeat.
FT CHAIN 1..1005
FT /note="PDZ domain-containing protein 7"
FT /id="PRO_0000058298"
FT DOMAIN 86..168
FT /note="PDZ 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00143"
FT DOMAIN 210..293
FT /note="PDZ 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00143"
FT REGION 353..378
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 700..859
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 949..1005
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 772..786
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 984..998
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 442..1005
FT /note="EEKKQRKKEKSGSTGEKGALQRSKTLMNLFFKGGRQGRLARDGRREAWTPDS
FT GSLAKTCPRLDMEKAGGMGPVQKFVTWRLRRDRERGRALLSARSGSPSSQLPNVDEQVQ
FT AWESRRPLIQDLAQRLLTDDEVLAVTRHCSRYVHEGGIEDLVRPLLAILDRPEKLLLLR
FT DIRSVVAPTDLGRFDSMVMPVELEAFEALKSRAVRPPALRPARQDTPPKRHLITPVPDS
FT RGGFYLLPVNGFPEEEDDEELRERLGALKVSPSASAPRHPHKGIPPLQDVPVDAFTPLR
FT SACTPPPQLPHVARRPPRPNWLLTEPLSREHPPQSQIRGRAQSRSRSRSRSRSRSRSSR
FT GQGKSPGRRSPSPVPIPAPSMANGRYHKPQKARPPLPRPLDGEAAKMGAKQGSSENGTG
FT GTAEEAAMKTPSGELKTVTLSKMKQSLGISISGGIESKVQPMVKIEKIFPGGAAFLSGA
FT LQAGFELVAVDGESLEQVTHQRAVDTIRRAYRNKAREPMELVVRVPGPSPRPSPSDSSA
FT LTDGGLPAAHQPLDAAPVPAHWLPEPPTNPQTPPTDARLL -> APPVAPSVCRGEEAA
FT EEGEVGVHWGEGCPAALQDADEPLLQGREAGEASTGRAQRGLDTGQREPGQNLPSPGHG
FT ERWSFALVVQAGV (in isoform 2)"
FT /id="VSP_059944"
FT CONFLICT 16
FT /note="D -> H (in Ref. 2; CAH90873)"
FT /evidence="ECO:0000305"
FT CONFLICT 187
FT /note="R -> Q (in Ref. 2; CAH90873)"
FT /evidence="ECO:0000305"
FT CONFLICT 207
FT /note="I -> V (in Ref. 2; CAH90873)"
FT /evidence="ECO:0000305"
FT CONFLICT 379
FT /note="R -> Q (in Ref. 2; CAH90873)"
FT /evidence="ECO:0000305"
FT CONFLICT 393
FT /note="R -> K (in Ref. 2; CAH90873)"
FT /evidence="ECO:0000305"
FT CONFLICT 407
FT /note="C -> R (in Ref. 2; CAH90873)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1005 AA; 109051 MW; B072DA0416CA072A CRC64;
MAQGFAVGFD PLGLGDLSSG SLSSLSSRGH LGSDSGSTAT RYLLRKQQRL PNVPPRGIRA
SSPMGRVILI NSPIEANSDE SDIIHSVRVE KSPAGRLGFS VRGGSEHGLG IFVSKVEEGS
SAERAGLCVG DKITEVNGLS LESTTMGSAV KVLTGSSRLH MMVRRMGRVP GIKFSKEKTT
WVDVVNRRLV VEKCSSTPSD TSSEDGIRRI VHLYTTSDDF CLGFNIRGGK EFGLGIYVSK
VDHGGLAEEN GIKVGDQVLA ANGVRFDDIS HSQAVEVLKG QTHIMLTIKE TGRYPAYKEM
VSEYCWLDRL SNGVLQQLSP ASESSSSVFS CASSAPYSSD SLPSDRMDIC LGPEEPGSRG
PGWGRADTAM QTEPDAGGRV ETWCSVRPTV ILRDTTIRSD GPQPGRCLDS AISESPKTAL
LLALSRPRPP ITRSQSYLTL WEEKKQRKKE KSGSTGEKGA LQRSKTLMNL FFKGGRQGRL
ARDGRREAWT PDSGSLAKTC PRLDMEKAGG MGPVQKFVTW RLRRDRERGR ALLSARSGSP
SSQLPNVDEQ VQAWESRRPL IQDLAQRLLT DDEVLAVTRH CSRYVHEGGI EDLVRPLLAI
LDRPEKLLLL RDIRSVVAPT DLGRFDSMVM PVELEAFEAL KSRAVRPPAL RPARQDTPPK
RHLITPVPDS RGGFYLLPVN GFPEEEDDEE LRERLGALKV SPSASAPRHP HKGIPPLQDV
PVDAFTPLRS ACTPPPQLPH VARRPPRPNW LLTEPLSREH PPQSQIRGRA QSRSRSRSRS
RSRSRSSRGQ GKSPGRRSPS PVPIPAPSMA NGRYHKPQKA RPPLPRPLDG EAAKMGAKQG
SSENGTGGTA EEAAMKTPSG ELKTVTLSKM KQSLGISISG GIESKVQPMV KIEKIFPGGA
AFLSGALQAG FELVAVDGES LEQVTHQRAV DTIRRAYRNK AREPMELVVR VPGPSPRPSP
SDSSALTDGG LPAAHQPLDA APVPAHWLPE PPTNPQTPPT DARLL
