ZBED4 (22q13.33) geeni ilmentyy eniten luuytimessä ja paksusuolessa. Sen mRNA:ta on retinan tapeissa valoreseptoreissa ja Müllerin gliasoluissa. Proteiinilla on 1171 aminohappoa ja sen N-tgerminaalisessa domeenissa ilmenee neljä BED tyyppistä sinkkisormea. C-terminaalissa on lisäksi katalyyttinen aluea, alfa-helikaalinen domeeni ja imeerisoitumiskohta.
Katson sen neljää BED ZNF domeenia ja niissä olevat H ja C kombinaatiot ovat seuraavat:
HCCHH, HHCCHH, HHCCCCHH, HCCHCCHH .
https://www.ncbi.nlm.nih.gov/gene/9889
KUVA:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3606216/figure/pone-0059940-g001/
- Official Symbol
- ZBED4provided by HGNC
- Official Full Name
- zinc finger BED-type containing 4provided by HGNC
- Expression: Ubiquitous expression in bone marrow (RPKM 4.8), colon (RPKM 4.3) and 25 other tissues See more
- Preferred Names
- zinc finger BED domain-containing protein 4
- Names
- zinc finger, BED domain containing 4
- NM_014838.3 → NP_055653.2 zinc finger BED domain-containing protein 4
- Conserved Domains (2) summary
-
- pfam02892
Location:118 → 166 - zf-BED; BED zinc finger
- pfam05699
Location:1088 → 1164 - Dimer_Tnp_hAT; hAT family C-terminal dimerisation region
- pfam02892
FEATURES Location/Qualifiers source 1..1171 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="22" /map="22q13.33" Protein 1..1171 /product="zinc finger BED domain-containing protein 4" /note="zinc finger, BED domain containing 4" /calculated_mol_wt=130192 Region 118..166 /region_name="zf-BED" /note="BED zinc finger; pfam02892" /db_xref="CDD:308506" Region 288..336 /region_name="zf-BED" /note="BED zinc finger; pfam02892" /db_xref="CDD:308506" Region 459..506 /region_name="zf-BED" /note="BED zinc finger; pfam02892" /db_xref="CDD:308506" Region 561..609 /region_name="zf-BED" /note="BED zinc finger; pfam02892" /db_xref="CDD:308506" Site 624 /site_type="phosphorylation" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine. {ECO:0000244|PubMed:23186163}; propagated from UniProtKB/Swiss-Prot (O75132.2)" Region 1088..1164 /region_name="Dimer_Tnp_hAT" /note="hAT family C-terminal dimerisation region; pfam05699" /db_xref="CDD:310361" CDS 1..1171 /gene="ZBED4" /coded_by="NM_014838.3:476..3991" /db_xref="CCDS:CCDS33677.1" /db_xref="GeneID:9889" /db_xref="HGNC:HGNC:20721" /db_xref="MIM:612552" ORIGIN 1 mennlktcpk edgdfvsdki kfkieeeddd gippdslerm dfkseqedmk qtdsggerag 61 lggtgcsckp pgkylsaese ddygalfsqy sstlydvame avtqsllssr nmssrkkspa 121 wkhffisprd stkaicmycv kefsrgknek dlstsclmrh vrrahptvli qengsvsavs 181 sfpspslllp pqpadagdls tilspiklvq kvaskipspd riteesvsvv sseeissdms 241 vsekcgreea lvgssphlpa lhydepaenl aekslplpks tsgsrrrsav wkhfylspld 301 nskavcihcm nefsrgkngk dlgtsclirh mwrahraivl qenggtgipp lystpptllp 361 sllppegels svssspvkpv respsasssp drltedlqsh lnpgdglmed vaafsssddi 421 geasasspek qqadglsprl fesgaifqqn kkvmkrlkse vwhhfslapm dslkaecryc 481 gcaisrgkkg dvgtsclmrh lyrrhpevvg sqkgflgasl anspyatlas aesssskltd 541 lptvvtknnq vmfpvnskkt sklwnhfsic sadstkvvcl hcgrtisrgk kptnlgtscl 601 lrhlqrfhsn vlktevseta rpsspdtrvp rgtelsgass fddtnekfyd shpvakkits 661 liaemialdl qpysfvdnvg fnrlleylkp qyslpapsyf srtaipgmyd nvkqiimshl 721 keaesgvihf tsgiwmsnqt reyltltahw vsfesparpr cddhhcsall dvsqvdcdys 781 gnsiqkqlec wweawvtstg lqvgitvtdn asigktlneg ehssvqcfsh tvnlivseai 841 ksqrmvqnll slarkicerv hrspkakekl aelqreyalp qhhliqdvps kwstsfhmle 901 rlieqkrain emsvecnfre liscdqwevm qsvcralkpf eaasremstq mstlsqvipm 961 vhilnrkvem lfeetmgidt mlrslkeamv srlsatlhdp ryvfatlldp rykaslftee 1021 eaeqykqdli relelmnsts edvaashrcd agspskdsaa eenlwslvak vkkkdprekl 1081 peamvlayle eevlehscdp ltywnlkkas wpglsalavr flgcppsivp seklfntpte 1141 ngslgqsrlm mehfeklifl kvnlpliyfq y //
- ZBED4, a novel retinal protein expressed in cones and Müller cells. Farber DB, et al. Adv Exp Med Biol, 2010. PMID 20238005
- Human DNA replication-related element binding factor (hDREF) self-association via hATC domain is necessary for its nuclear accumulation and DNA binding. Yamashita D, et al. J Biol Chem, 2007 Mar 9. PMID 17209048
-
ZBED4, a BED-type zinc-finger protein in the cones of the human retina.
Saghizadeh M, et al. Invest Ophthalmol Vis Sci, 2009 Aug. PMID 19369242, Free PMC Article RESULTS: One of 80 cDNAs differentially expressed in normal
and cd dog retinas corresponded to a novel gene, ZBED4, which is also
expressed in human and mouse retinas. ZBED4 mRNA was found to be present
in cone photoreceptors. When ZBED4 cDNA was transfected into HEK293
cells, the expressed protein showed nuclear localization. However, in
human retinas, ZBED4 was localized to cone nuclei, inner segments, and
pedicles, as well as to Müller cell endfeet. Confirming these
immunohistochemical results, the 135-kDa ZBED4 was found in both the
nuclear and cytosolic extracts of human retinas. ZBED4 has four
predicted DNA-binding domains, a dimerization domain, and two LXXLL
motifs characteristic of coactivators/corepressors of nuclear hormone
receptors. CONCLUSIONS:
ZBED4 cellular/subcellular localization and domains suggest a regulatory role for this protein, which may exert its effects in cones and Müller cells through multiple ways of action.
GeneRIFs: Gene References Into Functions
- There was no association between SNPs in the BRD1 and ZBED4 genes and schizophrenia in the Chinese population.
- ZBED4, a novel protein that in human retina is localized to cone photoreceptors and glial Muller cells.
- Observational study of gene-disease association. (HuGE Navigator)
- ZBED4 cellular/subcellular localization and domains suggest a regulatory role for this protein, which may exert its effects in cones and Muller cells through multiple ways of action.
Inga kommentarer:
Skicka en kommentar