LOCUS       NM_001201325            2065 bp    mRNA    linear   PRI 19-AUG-2024
DEFINITION  Homo sapiens PDZ domain containing 1 (PDZK1), transcript variant 2,
            mRNA.
ACCESSION   NM_001201325
VERSION     NM_001201325.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2065)
  AUTHORS   Shao,Y., Zhang,H., Guan,H., Wu,C., Qi,W., Yang,L., Yin,J.,
            Zhang,H., Liu,L., Lu,Y., Zhao,Y., Zhang,S., Zeng,C., Wang,G.,
            Bai,X. and Cai,D.
  TITLE     PDZK1 protects against mechanical overload-induced chondrocyte
            senescence and osteoarthritis by targeting mitochondrial function
  JOURNAL   Bone Res 12 (1), 41 (2024)
   PUBMED   39019845
  REMARK    GeneRIF: PDZK1 protects against mechanical overload-induced
            chondrocyte senescence and osteoarthritis by targeting
            mitochondrial function.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2065)
  AUTHORS   Zhang,Y., Wang,F. and Huang,Y.
  TITLE     PDZK1 is correlated with DCE-MRI perfusion parameters in high-grade
            glioma
  JOURNAL   Clinics (Sao Paulo) 79, 100367 (2024)
   PUBMED   38692010
  REMARK    GeneRIF: PDZK1 is correlated with DCE-MRI perfusion parameters in
            high-grade glioma.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2065)
  AUTHORS   Ren,X., Deng,D., Xiang,S. and Feng,J.
  TITLE     Promoter hypomethylated PDZK1 acts as a tumorigenic gene in glioma
            by interacting with AKT1
  JOURNAL   Aging (Albany NY) 16 (8), 7174-7187 (2024)
   PUBMED   38669103
  REMARK    GeneRIF: Promoter hypomethylated PDZK1 acts as a tumorigenic gene
            in glioma by interacting with AKT1.
REFERENCE   4  (bases 1 to 2065)
  AUTHORS   Junyent,M., Arnett,D.K., Tsai,M.Y., Kabagambe,E.K., Straka,R.J.,
            Province,M., An,P., Lai,C.Q., Parnell,L.D., Shen,J., Lee,Y.C.,
            Borecki,I. and Ordovas,J.M.
  TITLE     Genetic variants at the PDZ-interacting domain of the scavenger
            receptor class B type I interact with diet to influence the risk of
            metabolic syndrome in obese men and women
  JOURNAL   J Nutr 139 (5), 842-848 (2009)
   PUBMED   19321583
  REMARK    GeneRIF: findings suggest that PDZ domain containing 1
            (PDZK1)_i33968C > T genetic variants may be associated with a
            higher risk of exhibiting metabolic syndrome
            GeneRIF: Observational study of gene-disease association and
            gene-environment interaction. (HuGE Navigator)
REFERENCE   5  (bases 1 to 2065)
  AUTHORS   Inoue,J., Otsuki,T., Hirasawa,A., Imoto,I., Matsuo,Y., Shimizu,S.,
            Taniwaki,M. and Inazawa,J.
  TITLE     Overexpression of PDZK1 within the 1q12-q22 amplicon is likely to
            be associated with drug-resistance phenotype in multiple myeloma
  JOURNAL   Am J Pathol 165 (1), 71-81 (2004)
   PUBMED   15215163
  REMARK    GeneRIF: Overexpression of PDZK1 is associated with a
            drug-resistance phenotype in multiple myeloma.
REFERENCE   6  (bases 1 to 2065)
  AUTHORS   Gisler,S.M., Stagljar,I., Traebert,M., Bacic,D., Biber,J. and
            Murer,H.
  TITLE     Interaction of the type IIa Na/Pi cotransporter with PDZ proteins
  JOURNAL   J Biol Chem 276 (12), 9206-9213 (2001)
   PUBMED   11099500
REFERENCE   7  (bases 1 to 2065)
  AUTHORS   Wang,S., Yue,H., Derin,R.B., Guggino,W.B. and Li,M.
  TITLE     Accessory protein facilitated CFTR-CFTR interaction, a molecular
            mechanism to potentiate the chloride channel activity
  JOURNAL   Cell 103 (1), 169-179 (2000)
   PUBMED   11051556
REFERENCE   8  (bases 1 to 2065)
  AUTHORS   Kocher,O., Comella,N., Gilchrist,A., Pal,R., Tognazzi,K.,
            Brown,L.F. and Knoll,J.H.
  TITLE     PDZK1, a novel PDZ domain-containing protein up-regulated in
            carcinomas and mapped to chromosome 1q21, interacts with cMOAT
            (MRP2), the multidrug resistance-associated protein
  JOURNAL   Lab Invest 79 (9), 1161-1170 (1999)
   PUBMED   10496535
REFERENCE   9  (bases 1 to 2065)
  AUTHORS   White,K.E., Biber,J., Murer,H. and Econs,M.J.
  TITLE     A PDZ domain-containing protein with homology to Diphor-1 maps to
            human chromosome 1q21
  JOURNAL   Ann Hum Genet 62 (Pt 4), 287-290 (1998)
   PUBMED   9924606
REFERENCE   10 (bases 1 to 2065)
  AUTHORS   Kocher,O., Comella,N., Tognazzi,K. and Brown,L.F.
  TITLE     Identification and partial characterization of PDZK1: a novel
            protein containing PDZ interaction domains
  JOURNAL   Lab Invest 78 (1), 117-125 (1998)
   PUBMED   9461128
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX477678.1, AF012281.1 and
            AC242845.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jul 10, 2019 this sequence version replaced NM_001201325.1.
            
            Summary: This gene encodes a PDZ domain-containing scaffolding
            protein. PDZ domain-containing molecules bind to and mediate the
            subcellular localization of target proteins. The encoded protein
            mediates the localization of cell surface proteins and plays a
            critical role in cholesterol metabolism by regulating the HDL
            receptor, scavenger receptor class B type 1. Single nucleotide
            polymorphisms in this gene may be associated with metabolic
            syndrome, and overexpression of this gene may play a role in drug
            resistance of multiple myeloma. Pseudogenes of this gene are
            located on the long arm of chromosome 1. Alternatively spliced
            transcript variants encoding multiple isoforms have been observed
            for this gene. [provided by RefSeq, Jan 2011].
            
            Transcript Variant: This variant (2) differs in the 5' UTR,
            compared to variant 1. Variants 1 and 2 encode the same isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.224897.1,
                                           SRR3476690.150549.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000417171.6/ ENSP00000394485.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-30                BX477678.1         103-132
            31-636              AF012281.1         10-615
            637-637             AC242845.1         137925-137925       c
            638-1757            AF012281.1         617-1736
            1758-2065           AC242845.1         126396-126703       c
FEATURES             Location/Qualifiers
     source          1..2065
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.1"
     gene            1..2065
                     /gene="PDZK1"
                     /gene_synonym="CAP70; CLAMP; NHERF-3; NHERF3; PDZD1"
                     /note="PDZ domain containing 1"
                     /db_xref="GeneID:5174"
                     /db_xref="HGNC:HGNC:8821"
                     /db_xref="MIM:603831"
     exon            1..52
                     /gene="PDZK1"
                     /gene_synonym="CAP70; CLAMP; NHERF-3; NHERF3; PDZD1"
                     /inference="alignment:Splign:2.1.0"
     exon            53..264
                     /gene="PDZK1"
                     /gene_synonym="CAP70; CLAMP; NHERF-3; NHERF3; PDZD1"
                     /inference="alignment:Splign:2.1.0"
     CDS             55..1614
                     /gene="PDZK1"
                     /gene_synonym="CAP70; CLAMP; NHERF-3; NHERF3; PDZD1"
                     /note="isoform 1 is encoded by transcript variant 2;
                     PDZ-containing kidney protein 1; Na(+)/H(+) exchange
                     regulatory cofactor NHE-RF3; naPi-Cap1; CFTR-associated
                     protein of 70 kDa; sodium-hydrogen exchanger regulatory
                     factor 3; na/Pi cotransporter C-terminal-associated
                     protein 1; Na(+)/H(+) exchange regulatory cofactor 3"
                     /codon_start=1
                     /product="Na(+)/H(+) exchange regulatory cofactor NHE-RF3
                     isoform 1"
                     /protein_id="NP_001188254.1"
                     /db_xref="CCDS:CCDS72860.1"
                     /db_xref="GeneID:5174"
                     /db_xref="HGNC:HGNC:8821"
                     /db_xref="MIM:603831"
                     /translation="MTSTFNPRECKLSKQEGQNYGFFLRIEKDTEGHLVRVVEKCSPA
                     EKAGLQDGDRVLRINGVFVDKEEHMQVVDLVRKSGNSVTLLVLDGDSYEKAVKTRVDL
                     KELGQSQKEQGLSDNILSPVMNGGVQTWTQPRLCYLVKEGGSYGFSLKTVQGKKGVYM
                     TDITPQGVAMRAGVLADDHLIEVNGENVEDASHEEVVEKVKKSGSRVMFLLVDKETDK
                     RHVEQKIQFKRETASLKLLPHQPRIVEMKKGSNGYGFYLRAGSEQKGQIIKDIDSGSP
                     AEEAGLKNNDLVVAVNGESVETLDHDSVVEMIRKGGDQTSLLVVDKETDNMYRLAHFS
                     PFLYYQSQELPNGSVKEAPAPTPTSLEVSSPPDTTEEVDHKPKLCRLAKGENGYGFHL
                     NAIRGLPGSFIKEVQKGGPADLAGLEDEDVIIEVNGVNVLDEPYEKVVDRIQSSGKNV
                     TLLVCGKKAYDYFQAKKIPIVSSLADPLDTPPDSKEGIVVESNHDSHMAKERAHSTAS
                     HSSSNSEDTEM"
     exon            265..514
                     /gene="PDZK1"
                     /gene_synonym="CAP70; CLAMP; NHERF-3; NHERF3; PDZD1"
                     /inference="alignment:Splign:2.1.0"
     exon            515..651
                     /gene="PDZK1"
                     /gene_synonym="CAP70; CLAMP; NHERF-3; NHERF3; PDZD1"
                     /inference="alignment:Splign:2.1.0"
     exon            652..847
                     /gene="PDZK1"
                     /gene_synonym="CAP70; CLAMP; NHERF-3; NHERF3; PDZD1"
                     /inference="alignment:Splign:2.1.0"
     exon            848..1044
                     /gene="PDZK1"
                     /gene_synonym="CAP70; CLAMP; NHERF-3; NHERF3; PDZD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1045..1269
                     /gene="PDZK1"
                     /gene_synonym="CAP70; CLAMP; NHERF-3; NHERF3; PDZD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1270..1560
                     /gene="PDZK1"
                     /gene_synonym="CAP70; CLAMP; NHERF-3; NHERF3; PDZD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1561..2065
                     /gene="PDZK1"
                     /gene_synonym="CAP70; CLAMP; NHERF-3; NHERF3; PDZD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1721..1726
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDZK1"
                     /gene_synonym="CAP70; CLAMP; NHERF-3; NHERF3; PDZD1"
                     /note="hexamer: AAGAAA"
     polyA_site      1743
                     /gene="PDZK1"
                     /gene_synonym="CAP70; CLAMP; NHERF-3; NHERF3; PDZD1"
                     /note="major polyA site"
     regulatory      2043..2048
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDZK1"
                     /gene_synonym="CAP70; CLAMP; NHERF-3; NHERF3; PDZD1"
                     /note="hexamer: AATAAA"
     polyA_site      2065
                     /gene="PDZK1"
                     /gene_synonym="CAP70; CLAMP; NHERF-3; NHERF3; PDZD1"
ORIGIN      
        1 agagacagaa ttcctgagtg aacgaacaga gcagctcctc ttccatctcc agaaatgacc
       61 tccaccttca acccccgaga atgtaaactg tccaagcaag aagggcaaaa ctatggcttc
      121 ttcctgcgaa ttgagaagga caccgagggc cacctggtcc gggtggttga gaagtgtagc
      181 ccagcagaga aggctggcct tcaagatgga gacagagttc ttaggatcaa tggtgtcttt
      241 gtggacaaag aagaacatat gcaggttgtg gatctggtca gaaagagtgg gaattcagtg
      301 actttactag ttctggatgg ggattcctat gagaaagcag tgaaaacacg ggtggacttg
      361 aaagagttgg gtcaaagtca gaaggagcaa ggtttgagtg ataatatact ttcccctgtg
      421 atgaatggag gtgtgcaaac ttggacccag ccccggctct gctatctcgt gaaggaagga
      481 ggcagctatg gcttctctct gaaaactgtc caaggtaaaa agggggtgta catgactgat
      541 attacacctc aaggtgtggc tatgagagct ggagttctgg ctgatgatca cttgattgaa
      601 gtgaatggag agaatgtaga ggatgccagc catgaggaag tggttgaaaa ggtgaagaag
      661 tcaggaagcc gtgtcatgtt cctgctggtg gacaaagaaa ctgacaagcg tcatgttgag
      721 cagaagatac aattcaaaag agaaacagcc agtttgaaac tgttacccca ccagccccga
      781 attgtggaga tgaagaaagg aagcaatggc tatggtttct atctgagggc aggctcagaa
      841 cagaaaggtc aaatcatcaa ggacatagat tctggaagtc cagcagagga ggctggcttg
      901 aagaacaatg atctggtagt tgctgtcaac ggcgagtctg tggaaaccct ggatcatgac
      961 agtgtggtag aaatgattag aaagggtgga gatcagactt cactgttggt ggtagacaaa
     1021 gagacggaca acatgtacag actggctcat ttttctccat ttctctacta tcaaagtcaa
     1081 gaactgccca atggctctgt caaggaggct ccagctccta ctcccacttc tctggaagtc
     1141 tcaagtccac cagatactac agaggaagta gatcataagc ctaaactctg caggctggct
     1201 aaaggtgaaa atggctatgg ctttcactta aatgcgattc ggggtctgcc aggctcattc
     1261 atcaaagagg tacagaaggg cggtcctgct gacttggctg ggctagagga tgaggatgtc
     1321 atcattgaag tgaatggggt gaatgtgcta gatgaaccct atgagaaggt ggtggataga
     1381 atccagagca gtgggaagaa tgtcacactt ctagtctgtg gaaagaaggc ctatgattat
     1441 ttccaagcta agaaaatccc tattgtttcc tccctggctg atccacttga cacccctcca
     1501 gattctaaag aaggaatagt ggtggagtca aaccatgact cgcacatggc aaaagaacgg
     1561 gcccacagta cagcctcaca ttcttcttcc aattctgaag atacagagat gtgatgaaaa
     1621 caagtaatag ctttggctgt ttatttgata gctgtttctg ggtatttaat aggaatcctt
     1681 tctcaaggaa tgagttgtga cctgtttact gtctctttag aagaaaaact ccactggaaa
     1741 ccattcacca tgtgtgattg tcttctgtta tcatttgtct tacaggcggc tattgcagac
     1801 ggctaattta tgcttaactt aggaagagat aaggcaagag ctagattttt ttcatgtgat
     1861 cttttccaag cttcaactta acttaactac atttctctgt atgatgatgt ctcttacttc
     1921 tacaggttcc ttgagcacca aagatgattc ataactctgt ataggtgaca gctgcttata
     1981 aaagcatctt agcagataag cctattaaaa ttgtgctttt gtaacaatgt tgtggttgct
     2041 agaataaata ccattaacaa atgcc
//
