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KDM5C

From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens
KDM5C
Available structures
PDBOrtholog search:PDBeRCSB
List of PDB id codes

2JRZ,5FWJ

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
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for KDM5C
Genomic location for KDM5C
BandXp11.22Start53,176,283bp[1]
End53,225,422bp[1]
Gene location (Mouse)
X chromosome (mouse)
Chr.X chromosome (mouse)[2]
X chromosome (mouse)
Genomic location for KDM5C
Genomic location for KDM5C
BandX F3|X 68.46 cMStart151,016,016bp[2]
End151,057,531bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • sural nerve

  • stromal cell of endometrium

  • right uterine tube

  • body of uterus

  • left ovary

  • granulocyte

  • right ovary

  • ectocervix

  • skin of leg

  • skin of abdomen
Top expressed in
  • epithelium of lens

  • yolk sac

  • pineal gland

  • neural layer of retina

  • fossa

  • condyle

  • substantia nigra

  • trigeminal ganglion

  • retinal pigment epithelium

  • ventricular zone
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

8242

20591

Ensembl

ENSG00000126012

ENSMUSG00000025332

UniProt

P41229

P41230

RefSeq (mRNA)
NM_001146702
NM_001282622
NM_004187
NM_001353978
NM_001353979

NM_001353981
NM_001353982
NM_001353984

NM_013668

RefSeq (protein)
NP_001140174
NP_001269551
NP_004178
NP_001340907
NP_001340908

NP_001340910
NP_001340911
NP_001340913

NP_038696
NP_001390000
NP_001390001
NP_001390002
NP_001390003

NP_001390004
NP_001390005

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 anenzyme that in humans is encoded by theKDM5Cgene.[5][6][7] KDM5C belongs to thealpha-ketoglutarate-dependent hydroxylase superfamily.

Function

[edit]

This gene is a member of the SMCY homolog family and encodes a protein with oneARID domain, one JmjC domain, one JmjN domain and twoPHD-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 withX-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

[edit]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000126012Ensembl, May 2017
  2. ^abcGRCm38: 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. ^ab"Entrez Gene: JARID1C jumonji, AT rich interactive domain 1C".

Further reading

[edit]

External links

[edit]

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.

(1) Basic domains
(1.1) Basicleucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3)bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2)Zinc finger DNA-binding domains
(2.1)Nuclear receptor(Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3.1)Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3)Fork head /winged helix
(3.4)Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4)β-Scaffold factors with minor groove contacts
(4.1)Rel homology region
(4.2)STAT
(4.3) p53-like
(4.4)MADS box
(4.6)TATA-binding proteins
(4.7)High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3)Pocket domain
(0.5)AP-2/EREBP-related factors
(0.6) Miscellaneous
1.14.11:2-oxoglutarate
1.14.13:NADH orNADPH
1.14.14: reducedflavin orflavoprotein
1.14.15: reducediron–sulfur protein
1.14.16: reducedpteridine (BH4 dependent)
1.14.17: reducedascorbate
1.14.18-19: other
1.14.99 - miscellaneous
Activity
Regulation
Classification
Kinetics
Types
Portal:


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