PDZD9_HUMAN
ID PDZD9_HUMAN Reviewed; 264 AA.
AC Q8IXQ8; F5GWW8;
DT 09-JAN-2007, integrated into UniProtKB/Swiss-Prot.
DT 09-JAN-2007, sequence version 2.
DT 03-AUG-2022, entry version 127.
DE RecName: Full=PDZ domain-containing protein 9;
GN Name=PDZD9; Synonyms=C16orf65;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15616553; DOI=10.1038/nature03187;
RA Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G.,
RA Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E.,
RA Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M.,
RA Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C.,
RA Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M.,
RA Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M.,
RA Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D.,
RA Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L.,
RA Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E.,
RA Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H.,
RA Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y.,
RA Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
RA Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
RA Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S.,
RA Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A.,
RA Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M.,
RA Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H.,
RA Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A.,
RA Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J.,
RA DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J.,
RA Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M.,
RA Myers R.M., Rubin E.M., Pennacchio L.A.;
RT "The sequence and analysis of duplication-rich human chromosome 16.";
RL Nature 432:988-994(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Brain, and Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8IXQ8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8IXQ8-2; Sequence=VSP_022286, VSP_022287;
CC Name=3;
CC IsoId=Q8IXQ8-3; Sequence=VSP_053798;
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AC092119; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC021724; AAH21724.1; -; mRNA.
DR EMBL; BC028605; AAH28605.1; -; mRNA.
DR EMBL; BC039562; AAH39562.1; -; mRNA.
DR CCDS; CCDS10602.2; -. [Q8IXQ8-3]
DR RefSeq; NP_776167.2; NM_173806.3. [Q8IXQ8-3]
DR RefSeq; XP_006721092.1; XM_006721029.3.
DR AlphaFoldDB; Q8IXQ8; -.
DR SMR; Q8IXQ8; -.
DR BioGRID; 129119; 8.
DR IntAct; Q8IXQ8; 1.
DR MINT; Q8IXQ8; -.
DR STRING; 9606.ENSP00000441685; -.
DR iPTMnet; Q8IXQ8; -.
DR PhosphoSitePlus; Q8IXQ8; -.
DR BioMuta; PDZD9; -.
DR DMDM; 122063376; -.
DR MassIVE; Q8IXQ8; -.
DR PaxDb; Q8IXQ8; -.
DR PeptideAtlas; Q8IXQ8; -.
DR PRIDE; Q8IXQ8; -.
DR Antibodypedia; 25794; 59 antibodies from 13 providers.
DR DNASU; 255762; -.
DR Ensembl; ENST00000424898.3; ENSP00000400514.2; ENSG00000155714.14. [Q8IXQ8-1]
DR Ensembl; ENST00000537222.6; ENSP00000441685.2; ENSG00000155714.14. [Q8IXQ8-3]
DR Ensembl; ENST00000639637.2; ENSP00000492626.2; ENSG00000284316.2. [Q8IXQ8-1]
DR Ensembl; ENST00000639732.2; ENSP00000491386.1; ENSG00000284316.2. [Q8IXQ8-1]
DR GeneID; 255762; -.
DR KEGG; hsa:255762; -.
DR MANE-Select; ENST00000424898.3; ENSP00000400514.2; NM_001363519.1; NP_001350448.1.
DR UCSC; uc021ter.2; human. [Q8IXQ8-1]
DR CTD; 255762; -.
DR DisGeNET; 255762; -.
DR GeneCards; PDZD9; -.
DR HGNC; HGNC:28740; PDZD9.
DR HPA; ENSG00000155714; Tissue enriched (testis).
DR MalaCards; PDZD9; -.
DR neXtProt; NX_Q8IXQ8; -.
DR OpenTargets; ENSG00000155714; -.
DR PharmGKB; PA165450481; -.
DR VEuPathDB; HostDB:ENSG00000155714; -.
DR eggNOG; ENOG502RYRV; Eukaryota.
DR GeneTree; ENSGT00390000008326; -.
DR HOGENOM; CLU_095719_0_0_1; -.
DR InParanoid; Q8IXQ8; -.
DR OMA; GYKKKNR; -.
DR OrthoDB; 1459151at2759; -.
DR PhylomeDB; Q8IXQ8; -.
DR TreeFam; TF337738; -.
DR PathwayCommons; Q8IXQ8; -.
DR SignaLink; Q8IXQ8; -.
DR BioGRID-ORCS; 255762; 23 hits in 1061 CRISPR screens.
DR ChiTaRS; PDZD9; human.
DR GenomeRNAi; 255762; -.
DR Pharos; Q8IXQ8; Tdark.
DR PRO; PR:Q8IXQ8; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; Q8IXQ8; protein.
DR Bgee; ENSG00000155714; Expressed in left testis and 89 other tissues.
DR ExpressionAtlas; Q8IXQ8; baseline and differential.
DR Genevisible; Q8IXQ8; HS.
DR Gene3D; 2.30.42.10; -; 1.
DR InterPro; IPR001478; PDZ.
DR InterPro; IPR041489; PDZ_6.
DR InterPro; IPR036034; PDZ_sf.
DR InterPro; IPR039179; PDZD9.
DR PANTHER; PTHR22698; PTHR22698; 1.
DR Pfam; PF17820; PDZ_6; 1.
DR SMART; SM00228; PDZ; 1.
DR SUPFAM; SSF50156; SSF50156; 1.
DR PROSITE; PS50106; PDZ; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..264
FT /note="PDZ domain-containing protein 9"
FT /id="PRO_0000271215"
FT DOMAIN 30..109
FT /note="PDZ"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00143"
FT VAR_SEQ 1..62
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_022286"
FT VAR_SEQ 11..70
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_053798"
FT VAR_SEQ 63..70
FT /note="ANDGKLQP -> MAEGEEEG (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_022287"
SQ SEQUENCE 264 AA; 29904 MW; 07C95742DFE26201 CRC64;
MQKASHKNKK ERGVSNKVKT SVHNLSKTQQ TKLTVGSLGL GLIIIQHGPY LQITHLIRKG
AAANDGKLQP GDVLISVGHA NVLGYTLREF LQLLQHITIG TVLQIKVYRD FINIPEEWQE
IYDLIPEAKF PVTSTPKKIE LAKDESFTSS DDNENVDLDK RLQYYRYPWS TVHHPARRPI
SISRDWHGYK KKNHTISVGK DINCDVMIHR DDKKEVRAPS PYWIMVKQDN ESSSSSTSST
SDAFWLEDCA QVEEGKAQLV SKVG
