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söndag 24 maj 2020

TRPS1 ((8q23.3), LGCR, GC79 , ( GATAD- ryhmän sinkkisormiproteiineista )

 GATAD -ryhmän inkkisormiproteiinit ovat  luvultaan 15 ja niistä kaikki 15  ovat transkriptiotekijöitä.  GATAD-ryhmän sinkkisormiproteiinit  sitoutuvat  DNA-konsensusdomeeniin  (AT)GATA(AG). Tämä proteiini toimii  transkriptionaalisena repressorina   ja myös kiinnittyy dyneiiniproteiinin kevyeeseen ketjuun. Dyneiinillä on  GATA välitteinen säätely.
 SARS-2 viruksen   oletettu mikroRNA  pitää tätä proteiinia TRPS1 kohdeproteiinina.
  895..938
                     /region_name="ZnF_GATA"
                     /note="zinc finger binding to DNA consensus sequence
                     [AT]GATA[AG]; smart00401"
                     /db_xref="CDD:214648"


https://www.ncbi.nlm.nih.gov/protein/NP_001269831.1
   Genomics 29 (1), 87-97 (1995)
   PUBMED   8530105
REFERENCE   9  (residues 1 to 1285)
  AUTHORS   Maas,S., Shaw,A., Bikker,H. and Hennekam,R.C.M.
  TITLE     Trichorhinophalangeal Syndrome
  JOURNAL   (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens
            K and Amemiya A (Eds.);
            GENEREVIEWS((R));
            (1993)
   PUBMED   28426188
REFERENCE   10 (residues 1 to 1285)
  AUTHORS   Hamers A, Jongbloet P, Peeters G, Fryns JP and Geraedts J.
  TITLE     Severe mental retardation in a patient with tricho-rhino-phalangeal
            syndrome type I and 8q deletion
  JOURNAL   Eur. J. Pediatr. 149 (9), 618-620 (1990)
   PUBMED   2373110
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF178030.3, DC339831.1,
            AK304046.1, AF183810.1, KF454923.1 and KC877306.1.
            On Sep 21, 2013 this sequence version replaced XP_005251105.1.
            
            Summary: This gene encodes a transcription factor that represses
            GATA-regulated genes and binds to a dynein light chain protein.
            Binding of the encoded protein to the dynein light chain protein
            affects binding to GATA consensus sequences and suppresses its
            transcriptional activity. Defects in this gene are a cause of
            tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) uses an alternate 5' structure
            which results in the use of an alternate start codon, compared to
            variant 1. The encoded isoform (2) is shorter and has a distinct
            N-terminus, compared to 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 :: SRR1803614.6752.1, AK304046.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467148, SAMEA2467150
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1285
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q23.3"
     Protein         1..1285
                     /product="zinc finger transcription factor Trps1 isoform
                     2"
                     /note="zinc finger transcription factor Trps1; zinc finger
                     protein GC79; trichorhinophalangeal syndrome I;
                     tricho-rhino-phalangeal syndrome type I protein"
                     /calculated_mol_wt=141851
     Region          895..938
                     /region_name="ZnF_GATA"
                     /note="zinc finger binding to DNA consensus sequence
                     [AT]GATA[AG]; smart00401"
                     /db_xref="CDD:214648"
     Region          899..955
                     /region_name="ZnF_GATA"
                     /note="Zinc finger DNA binding domain; binds specifically
                     to DNA consensus sequence [AT]GATA[AG] promoter elements;
                     a subset of family members may also bind protein;
                     zinc-finger consensus topology is C-X(2)-C-X(17)-C-X(2)-C;
                     cd00202"
                     /db_xref="CDD:238123"
     Site            order(900,903,921,924)
                     /site_type="other"
                     /note="zinc binding site [ion binding]"
                     /db_xref="CDD:238123"
     Site            order(909..910,912,921..931,952,954..955)
                     /site_type="DNA binding"
                     /note="DNA-binding region [nucleotide binding]"
                     /db_xref="CDD:238123"
     CDS             1..1285
                     /gene="TRPS1"
                     /gene_synonym="GC79; LGCR"
                     /coded_by="NM_001282902.3:131..3988"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS64957.1"
                     /db_xref="GeneID:7227"
                     /db_xref="HGNC:HGNC:12340"
                     /db_xref="MIM:604386"

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