(6) RNF150 (Kr. 4q31.21) , PA- TM-RING, RNF- alaperhe

RNF150 (Kr. 4q31.21)

https://www.ncbi.nlm.nih.gov/gene/57484

Ilmenee runsaasti rasvassa, lisämunuaisessa ja 21 muussa kudoksessa. Exoniluku 11. Erityistä liittyymä kliinisiin tauteihin ei artikkeleista näe, poikkeusken  kuitenkin on kiinalaisväestöstä tietoa COPD- riskin liittymisestä  tämän geenin variantteihin. 

RNF prekurosirproteiinin pituus aignaalipeptidi + RNF150 on 438 aminohappoa, joten se on näistä  GRAIL-in kaltaisista PA-TM-RING proteiineista pisin. 

 ( https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021871/
Kts. tässä artikkelissa olevia kaavoja ja siinä kuvaa 3, josa on  esitetty PA-TM-RING proteiineja.  Lsitan alussa nkyy olevan tmä PA-TM-RING- ryhmän   10 jäsentä,  9 jolla on  PA domeeni ja poikkeusjäsen  myös RNF122, jotla puuttuu signaaliryhmäja PA). 

Related articles in PubMed

1. EGLN2 and RNF150 genetic variants are associated with chronic obstructive pulmonary disease risk in the Chinese population. Ding Y, et al. Int J Chron Obstruct Pulmon Dis, 2015. PMID 25609945, Free PMC Article
2. Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease. Kim DK, et al. Am J Respir Crit Care Med, 2012 Dec 15. PMID 23144326, Free PMC Article
3. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 1999 Oct 29. PMID 10574462
4. A comprehensive framework of E2-RING E3 interactions of the human ubiquitin-proteasome system. van Wijk SJ, et al. Mol Syst Biol, 2009. PMID 19690564, Free PMC Article
5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Hillier LW, et al. Nature, 2005 Apr 7. PMID 15815621
   

See all (13) citations in PubMed
See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

1. rs10007052 in the RNF150 gene is significantly associated with the risk of COPD in Chinese populations of Hainan province.
2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
   

https://www.ncbi.nlm.nih.gov/protein/NP_065775.1

Precursor protein RNF150

Go to:

LOCUS       NP_065775                438 aa            linear   PRI 12-MAY-2018
DEFINITION  RING finger protein 150 precursor [Homo sapiens].
ACCESSION   NP_065775 XP_371709
VERSION     NP_065775.1
DBSOURCE    REFSEQ: accession NM_020724.1
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 438)
  AUTHORS   Ding Y, Niu H, Yang H, Sun P, Chen Y, Duan M, Xu D, Xu J and Jin T.
  TITLE     EGLN2 and RNF150 genetic variants are associated with chronic
            obstructive pulmonary disease risk in the Chinese population
  JOURNAL   Int J Chron Obstruct Pulmon Dis 10, 145-151 (2015)
   PUBMED   25609945
  REMARK    GeneRIF: rs10007052 in the RNF150 gene is significantly associated
            with the risk of COPD in Chinese populations of Hainan province.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 438)
  AUTHORS   Kim DK, Cho MH, Hersh CP, Lomas DA, Miller BE, Kong X, Bakke P,
            Gulsvik A, Agusti A, Wouters E, Celli B, Coxson H, Vestbo J, MacNee
            W, Yates JC, Rennard S, Litonjua A, Qiu W, Beaty TH, Crapo JD,
            Riley JH, Tal-Singer R and Silverman EK.
  CONSRTM   ECLIPSE, ICGN, and COPDGene Investigators
  TITLE     Genome-wide association analysis of blood biomarkers in chronic
            obstructive pulmonary disease
  JOURNAL   Am. J. Respir. Crit. Care Med. 186 (12), 1238-1247 (2012)
   PUBMED   23144326
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB033040.1 and AK130520.1.
            On Jan 31, 2005 this sequence version replaced XP_371709.3.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed/partial sample support SAMEA1965299,
                              SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..438
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q31.21"
     Protein         1..438
                     /product="RING finger protein 150 precursor"
                     /calculated_mol_wt=44338
     sig_peptide     1..34
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=3753
     mat_peptide     35..438
                     /product="RING finger protein 150"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULK6.2)"
                     /calculated_mol_wt=44338
     Region          45..193
                     /region_name="PA_GRAIL_like"
                     /note="PA _GRAIL_like: Protease-associated (PA) domain
                     GRAIL-like. This group includes PA domain containing E3
                     (ubiquitin ligases) similar to human GRAIL (gene related
                     to anergy in lymphocytes) protein. Proteins in this group
                     contain a C3H2C3 RING finger. E3...; cd02122"
                     /db_xref="CDD:239037"
     Site            154..156
                     /site_type="other"
                     /note="PA/protease or protease-like domain interface
                     [polypeptide binding]"
                     /db_xref="CDD:239037"
     Region          <207 ..="">232
                     /region_name="UPF0233"
                     /note="uncharacterized protein family (UPF0233); cl11506"
                     /db_xref="CDD:299753"
     Site            209..229
                     /site_type="transmembrane region"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULK6.2)"
     Region          276..319
                     /region_name="zf-RING_2"
                     /note="Ring finger domain; pfam13639"
                     /db_xref="CDD:290367"
     Site            order(278,281,296,298,301,304,315,318)
                     /site_type="other"
                     /note="cross-brace motif"
                     /db_xref="CDD:238093"
     CDS             1..438
                     /gene="RNF150"
                     /coded_by="NM_020724.1:655..1971"
                     /db_xref="CCDS:CCDS34065.1"
                     /db_xref="GeneID:57484"
                     /db_xref="HGNC:HGNC:23138"
ORIGIN      
        1 mamsliqacc slalstwlls fcfvhllcld ftvaekeewy tafvnityae papdpgagaa
       61 ggggaelhte ktecgrygeh spkqdargev vmassahdrl acdpntkfaa ptrgknwial
      121 ipkgnctyrd kirnaflqna savvifnvgs ntnetitmph agvedivaim ipepkgkeiv
      181 sllernitvt myitigtrnl qkyvsrtsvv fvsisfivlm iislawlvfy yiqrfryana
      241 rdrnqrrlgd aakkaisklq irtikkgdke tesdfdncav ciegykpndv vrilpcrhlf
      301 hkscvdpwll dhrtcpmckm nilkalgipp nadcmddlpt dfegslggpp tnqitgasdt
      361 tvnessvtld pavrtvgalq vvqdtdpipq egdvifttns eqepavssds dislimamev
      421 glsdvelstd qdceevks
//