Share to: share facebook share twitter share wa share telegram print page

 

KDM5C

KDM5C
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesKDM5C, DXS1272E, JARID1C, MRX13, MRXJ, MRXSCJ, MRXSJ, SMCX, XE169, lysine demethylase 5C
External IDsOMIM: 314690; MGI: 99781; HomoloGene: 79498; GeneCards: KDM5C; OMA:KDM5C - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_013668

RefSeq (protein)
Location (UCSC)Chr X: 53.18 – 53.23 MbChr X: 151.02 – 151.06 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Lysine-specific demethylase 5C is an enzyme that in humans is encoded by the KDM5C gene.[5][6][7] KDM5C belongs to the alpha-ketoglutarate-dependent hydroxylase superfamily.

Function

This gene is a member of the SMCY homolog family and encodes a protein with one ARID domain, one JmjC domain, one JmjN domain and two PHD-type zinc fingers. The DNA-binding motif suggest this protein is involved in the regulation of transcription and chromatin remodeling. Mutations in this gene have been associated with X-linked intellectual disability. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined.[7]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000126012Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025332Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Agulnik AI, Mitchell MJ, Mattei MG, Borsani G, Avner PA, Lerner JL, Bishop CE (Jun 1994). "A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human". Human Molecular Genetics. 3 (6): 879–84. doi:10.1093/hmg/3.6.879. PMID 7951230.
  6. ^ Wu J, Ellison J, Salido E, Yen P, Mohandas T, Shapiro LJ (Jan 1994). "Isolation and characterization of XE169, a novel human gene that escapes X-inactivation". Human Molecular Genetics. 3 (1): 153–60. doi:10.1093/hmg/3.1.153. PMID 8162017.
  7. ^ a b "Entrez Gene: JARID1C jumonji, AT rich interactive domain 1C".

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


Kembali kehalaman sebelumnya


Index: pl ar de en es fr it arz nl ja pt ceb sv uk vi war zh ru af ast az bg zh-min-nan bn be ca cs cy da et el eo eu fa gl ko hi hr id he ka la lv lt hu mk ms min no nn ce uz kk ro simple sk sl sr sh fi ta tt th tg azb tr ur zh-yue hy my ace als am an hyw ban bjn map-bms ba be-tarask bcl bpy bar bs br cv nv eml hif fo fy ga gd gu hak ha hsb io ig ilo ia ie os is jv kn ht ku ckb ky mrj lb lij li lmo mai mg ml zh-classical mr xmf mzn cdo mn nap new ne frr oc mhr or as pa pnb ps pms nds crh qu sa sah sco sq scn si sd szl su sw tl shn te bug vec vo wa wuu yi yo diq bat-smg zu lad kbd ang smn ab roa-rup frp arc gn av ay bh bi bo bxr cbk-zam co za dag ary se pdc dv dsb myv ext fur gv gag inh ki glk gan guw xal haw rw kbp pam csb kw km kv koi kg gom ks gcr lo lbe ltg lez nia ln jbo lg mt mi tw mwl mdf mnw nqo fj nah na nds-nl nrm nov om pi pag pap pfl pcd krc kaa ksh rm rue sm sat sc trv stq nso sn cu so srn kab roa-tara tet tpi to chr tum tk tyv udm ug vep fiu-vro vls wo xh zea ty ak bm ch ny ee ff got iu ik kl mad cr pih ami pwn pnt dz rmy rn sg st tn ss ti din chy ts kcg ve 
Prefix: a b c d e f g h i j k l m n o p q r s t u v w x y z 0 1 2 3 4 5 6 7 8 9