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måndag 1 juli 2019

COPS4 (4q21.22) , CSN4, SGN4, CO9 alayksikkö 4. Omaa RPN5 jakson (samanlainen kuin proteosomilla 26S)

COPS4
Official Symbol
COPS4provided by HGNC
Official Full Name
COP9 signalosome subunit 4provided by HGNC
Also known as
CSN4; SGN4
Summary
This gene encodes one of eight subunits composing COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
Expression
Ubiquitous expression in testis (RPKM 26.4), brain (RPKM 21.8) and 25 other tissues See more
Ortholog
Preferred Names
COP9 signalosome complex subunit 4
Names
COP9 constitutive photomorphogenic homolog subunit 4
COP9 constitutive photomorphogenic-like protein subunit 4
JAB1-containing signalosome subunit 4
signalosome subunit 4
testis tissue sperm-binding protein Li 42a
  1. NM_001258006.2NP_001244935.1  COP9 signalosome complex subunit 4 isoform 2
    See identical proteins and their annotated locations for NP_001244935.1
    Status: REVIEWED
    Description
    Transcript Variant: This variant (2) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK094238, BC009292
    Consensus CDS
    CCDS58909.1
    UniProtKB/Swiss-Prot
    Q9BT78
    Related
    ENSP00000425976.1, ENST00000509093.5
    Conserved Domains (1) summary
    COG5071
    Location:71337
    RPN5; 26S proteasome regulatory complex component [Posttranslational modification, protein turnover, chaperones]

     ##Evidence-Data-START##
            Transcript exon combination :: AK094238.1, SRR1803613.382316.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2151119
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..352
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q21.22"
     Protein         1..352
                     /product="COP9 signalosome complex subunit 4 isoform 2"
                     /note="COP9 signalosome complex subunit 4; signalosome
                     subunit 4; JAB1-containing signalosome subunit 4; COP9
                     constitutive photomorphogenic homolog subunit 4; COP9
                     constitutive photomorphogenic-like protein subunit 4;
                     testis tissue sperm-binding protein Li 42a"
                     /calculated_mol_wt=40066
     Region          <71 ..337="" b="" note="26S proteasome regulatory complex component
                     [Posttranslational modification, protein turnover,
                     chaperones]; COG5071" region_name="RPN5">
                     /db_xref="CDD:227403"
     CDS             1..352
                     /gene="COPS4"
                     /gene_synonym="CSN4; SGN4"
                     /coded_by="NM_001258006.2:43..1101"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS58909.1"
                     /db_xref="GeneID:51138"
                     /db_xref="HGNC:HGNC:16702"
                     /db_xref="MIM:616008"
ORIGIN      
        1 maaavrqdla qlmnssgshk dlagkyrqil ekaiqlsgae qlealkafve amvnenvslv
       61 isrqlltdfc thlpnlpdst akeiyhftle kiqprvisfe eqvasirqhl asiyekeedw
      121 rnaaqvlvgi pletgqkqyn vdykletylk iarlyleddd pvqaeayinr asllqnestn
      181 eqlqihykvc yarvldyrrk fieaaqryne lsyktivhes erlealkhal hctilasagq
      241 qrsrmlatlf kdercqqlaa ygilekmyld riirgnqlqe faamlmphqk attadgssil
      301 draviehnll sasklynnit feelgallei paakhekpcq rgisrsnhfv sk
//
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