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måndag 3 december 2018

LNX5 (Xq28) LU1, PDZK4, PDZRN4L

https://www.ncbi.nlm.nih.gov/gene/?term=LNX5


LU1; LNX5; PDZK4; PDZRN4L
Expression Biased expression in brain (RPKM 47.1), spleen (RPKM 4.7) and 4 other tissues See more
Preferred Names
PDZ domain-containing protein 4
Names
PDZ domain-containing RING finger protein 4-like protein

 https://www.ncbi.nlm.nih.gov/protein/NP_001290442.1

Conserved Domains (1) summary
smart00228
Location:144220
PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
 NP_001290441.1  PDZ domain-containing 4 isoform 1 
 
LOCUS       NP_001290442             673 aa            linear   PRI 30-JUN-2018
DEFINITION  PDZ domain-containing protein 4 isoform 3 [Homo sapiens].
ACCESSION   NP_001290442
VERSION     NP_001290442.1
DBSOURCE    REFSEQ: accession NM_001303513.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 673)
  AUTHORS   Nagayama S, Iiizumi M, Katagiri T, Toguchida J and Nakamura Y.
  TITLE     Identification of PDZK4, a novel human gene with PDZ domains, that
            is upregulated in synovial sarcomas
  JOURNAL   Oncogene 23 (32), 5551-5557 (2004)
   PUBMED   15077175
  REMARK    GeneRIF: Might play an important role in the proliferation of SS
            cells and might be a suitable target for SS drugs.
REFERENCE   2  (residues 1 to 673)
  AUTHORS   Katoh M and Katoh M.
  TITLE     Identification and characterization of human PDZRN4L gene and mouse
            Pdzrn4l gene in silico
  JOURNAL   Int. J. Mol. Med. 13 (6), 923-927 (2004)
   PUBMED   15138636
  REMARK    GeneRIF: PDZRN4L showed 49.9% total-amino-acid identity with PDZRN4
            short isoform (PDZRN4S).  PDZ, PR34H1 and PR34H2 domains were
            conserved between PDZRN4L and PDZRN4S.
REFERENCE   3  (residues 1 to 673)
  AUTHORS   Sandoval N, Bauer D, Brenner V, Coy JF, Drescher B, Kioschis P,
            Korn B, Nyakatura G, Poustka A, Reichwald K, Rosenthal A and
            Platzer M.
  TITLE     The genomic organization of a human creatine transporter (CRTR)
            gene located in Xq28
  JOURNAL   Genomics 35 (2), 383-385 (1996)
   PUBMED   8661155
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK127016.1, BC143542.1 and BC002606.2.
            
            Transcript Variant: This variant (3) contains an alternate exon in
            the 5' coding region and initiates translation at an alternate
            start codon, compared to variant 1. The encoded isoform (3) has a
            distinct N-terminus and is shorter than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC143542.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..673
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     Protein         1..673
                     /product="PDZ domain-containing protein 4 isoform 3"
                     /note="PDZ domain-containing protein 4; PDZ
                     domain-containing RING finger protein 4-like protein"
                     /calculated_mol_wt=75218
     Region          42..118
                     /region_name="PDZ"
                     /note="Domain present in PSD-95, Dlg, and ZO-1/2;
                     smart00228"
                     /db_xref="CDD:214570"
     Site            order(45..48,50,99..100,103..104)
                     /site_type="other"
                     /note="protein binding site [polypeptide binding]"
                     /db_xref="CDD:238492"
     CDS             1..673
                     /gene="PDZD4"
                     /gene_synonym="LNX5; LU1; PDZK4; PDZRN4L"
                     /coded_by="NM_001303513.1:819..2840"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="GeneID:57595"
                     /db_xref="HGNC:HGNC:21167"
                     /db_xref="MIM:300634"
ORIGIN      
        1 mtappishey ydpaefmegg pqeadrldel eyeevelyks shrdklglmv cyrtddeedl
       61 giyvgevnpn siaakdgrir egdriiqing vdvqnreeav ailsqeentn isllvarpes
      121 qlakrwkdsd rddflddfgs enegelrark lksppaqqpg neeekgapda gpglsnsqel
      181 dsgvgrtdes trneessehd llgdeppsst ntpgslrkfg lqgdalqsrd fhfsmdslla
      241 egaglgggdv pgltdeeyer yrelleikch lengnqlgll fprasggnsa ldvnrneslg
      301 hemamleeel rhlefkcrni lraqkmqqlr ercmkawlle eeslydlaas epkkhelsdi
      361 selpeksdkd stsayntges crstpllvep lpesplrram agnsnlnrtp pgpavatpak
      421 aapppgspak frslsrdpea grrqhaeerg rrnpktgltl ervgpesspy lsrrhrgqgq
      481 egehyhscvq laptrgleel ghgplslagg prvggvaaaa teaprmewkv kvrsdgtryv
      541 akrpvrdrll karalkiree rsgmttddda vsemkmgryw skeerkqhli rareqrkrre
      601 fmmqsrlecl reqqngdskp elniialshr ktmkkrnkki ldnwitiqem lahgarsadg
      661 krvynpllsv ttv
//
 

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

 

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