KDM5D

Last updated
KDM5D
Protein KDM5D PDB 2E6R.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases KDM5D , HY, HYA, JARID1D, SMCY, lysine demethylase 5D
External IDs OMIM: 426000 MGI: 99780 HomoloGene: 55838 GeneCards: KDM5D
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001146705
NM_001146706
NM_004653

NM_011419

RefSeq (protein)

NP_001140177
NP_001140178
NP_004644

NP_035549

Location (UCSC) Chr Y: 19.7 – 19.74 Mb Chr Y: 0.9 – 0.96 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Lysine-specific demethylase 5D is an enzyme that in humans is encoded by the KDM5D gene. [5] [6] [7] KDM5D belongs to the alpha-ketoglutarate-dependent hydroxylases superfamily.

Contents

This gene encodes a protein containing zinc finger domains. A short peptide derived from this protein is a minor histocompatibility antigen which can lead to graft rejection of male donor cells in a female recipient. [7]

Related Research Articles

Demethylases are enzymes that remove methyl (CH3-) groups from nucleic acids, proteins (in particular histones), and other molecules. Demethylase enzymes are important in epigenetic modification mechanisms. The demethylase proteins alter transcriptional regulation of the genome by controlling the methylation levels that occur on DNA and histones and, in turn, regulate the chromatin state at specific gene loci within organisms.

PHD finger

The PHD finger was discovered in 1993 as a Cys4-His-Cys3 motif in the plant homeodomain proteins HAT3.1 in Arabidopsis and maize ZmHox1a. The PHD zinc finger motif resembles the metal binding RING domain (Cys3-His-Cys4) and FYVE domain. It occurs as a single finger, but often in clusters of two or three, and it also occurs together with other domains, such as the chromodomain and the bromodomain.

KDM1A

Lysine-specific histone demethylase 1A (LSD1) also known as lysine (K)-specific demethylase 1A (KDM1A) is a protein in humans that is encoded by the KDM1A gene. LSD1 is a flavin-dependent monoamine oxidase, which can demethylate mono- and di-methylated lysines, specifically histone 3, lysines 4 and 9. This enzyme can have roles critical in embryogenesis and tissue-specific differentiation, as well as oocyte growth. KDM1A was the first histone demethylase to be discovered though more than 30 have been described.

Minor histocompatibility antigen

Minor histocompatibility antigen are receptors on the cellular surface of donated organs that are known to give an immunological response in some organ transplants. They cause problems of rejection less frequently than those of the major histocompatibility complex (MHC). Minor histocompatibility antigens (MiHAs) are diverse, short segments of proteins and are referred to as peptides. These peptides are normally around 9-12 amino acids in length and are bound to both the major histocompatibility complex (MHC) class I and class II proteins. Peptide sequences can differ among individuals and these differences arise from SNPs in the coding region of genes, gene deletions, frameshift mutations, or insertions. About a third of the characterized MiHAs come from the Y chromosome. The proteins are composed of a single immunogenic HLA allele. Prior to becoming a short peptide sequence, the proteins expressed by these polymorphic or diverse genes need to be digested in the proteasome into shorter peptides. These endogenous or self peptides are then transported into the endoplasmic reticulum with a peptide transporter pump called TAP where they encounter and bind to the MHC class I molecule. This contrasts with MHC class II molecules's antigens which are peptides derived from phagocytosis/endocytosis and molecular degradation of non-self entities' proteins, usually by antigen-presenting cells. MiHA antigens are either ubiquitously expressed in most tissue like skin and intestines or restrictively expressed in the immune cells.

Major histocompatibility complex, class II, DQ alpha 1

Major histocompatibility complex, class II, DQ alpha 1, also known as HLA-DQA1, is a human gene present on short arm of chromosome 6 (6p21.3) and also denotes the genetic locus which contains this gene. The protein encoded by this gene is one of two proteins that are required to form the DQ heterodimer, a cell surface receptor essential to the function of the immune system.

KDM5A Protein-coding gene in the species Homo sapiens

Lysine-specific demethylase 5A is an enzyme that in humans is encoded by the KDM5A gene.

HM13 Protein-coding gene in the species Homo sapiens

Minor histocompatibility antigen H13 is a protein that in humans is encoded by the HM13 gene.

KDM4A Lysine-specific demethylase 4A is an enzyme that in humans is encoded by the Kdm4a gene

Lysine-specific demethylase 4A is an enzyme that in humans is encoded by the KDM4A gene.

<span class="mw-page-title-main">ZFY</span> Protein-coding gene in the species Homo sapiens

Zinc finger Y-chromosomal protein is a protein that in humans is encoded by the ZFY gene of the Y chromosome.

<span class="mw-page-title-main">DDX3Y</span> Protein-coding gene in the species Homo sapiens

ATP-dependent RNA helicase DDX3Y is an enzyme that in humans is encoded by the DDX3Y gene.

<span class="mw-page-title-main">CD1E</span> Mammalian protein found in Homo sapiens

T-cell surface glycoprotein CD1e, membrane-associated is a protein that in humans is encoded by the CD1E gene.

HMHA1 Protein-coding gene in the species Homo sapiens

Minor histocompatibility protein HA-1 is a protein that in humans is encoded by the HMHA1 gene.

KDM5C Protein-coding gene in the species Homo sapiens

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

KDM3B Protein-coding gene in the species Homo sapiens

Lysine-specific demethylase 3B is an enzyme that in humans is encoded by the KDM3B gene. KDM3B belongs to the alpha-ketoglutarate-dependent hydroxylase superfamily.

UTY (gene) Protein-coding gene in the species Homo sapiens

Histone demethylase UTY is an enzyme that in humans is encoded by the UTY gene.

JARID1B Protein-coding gene in the species Homo sapiens

Lysine-specific demethylase 5B also known as histone demethylase JARID1B is a demethylase enzyme that in humans is encoded by the KDM5B gene. JARID1B belongs to the alpha-ketoglutarate-dependent hydroxylase superfamily.

KDM4B Protein-coding gene in the species Homo sapiens

Lysine-specific demethylase 4B is an enzyme that in humans is encoded by the KDM4B gene. KDM4B belongs to the alpha-ketoglutarate-dependent hydroxylase superfamily.

<span class="mw-page-title-main">UTX (gene)</span> Protein-coding gene in the species Homo sapiens

Lysine-specific demethylase 6A also known as Ubiquitously transcribed tetratricopeptide repeat, X chromosome (UTX), is a protein which in humans is encoded by the KDM6A gene. It belongs to the 2-oxoglutarate (2OG)-dependent dioxygenase superfamily.

H-Y antigen is a male tissue specific antigen. Originally thought to trigger the formation of testes it is now known that it does not trigger the formation of testes but may be activated by the formation of testes.

Xp11.2 duplication

Xp11.2 duplication is a genomic variation marked by the duplication of an X chromosome region on the short arm p at position 11.2, defined by standard karyotyping (G-banding). This gene-rich, rearrangement prone region can be further divided into three loci - Xp11.21, Xp11.22 and Xp11.23. The duplication could involve any combination of these three loci. While the length of the duplication can vary from 0.5Mb to 55 Mb, most duplications measure about 4.5Mb and typically occur in the region of 11.22-11.23. Most affected females show preferential activation of the duplicated X chromosome. Features of affected individuals vary significantly, even among members of the same family. The Xp11.2 duplication can be 'silent' - presenting no obvious symptoms in carriers - which is known from the asymptomatic parents of affected children carrying the duplication. The common symptoms include intellectual disabilities, speech delay and learning difficulties, while in rare cases, children have seizures and a recognizable brain wave pattern when assessed by EEG (electroencephalography).

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000012817 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000056673 - Ensembl, 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. Froggatt P (Feb 1977). "The foundation of the "Inst" medical department and its association with the Belfast Fever Hospital". The Ulster Medical Journal. 45 (2): 107–45. PMC   2385577 . PMID   795123.
  6. Kent-First MG, Maffitt M, Muallem A, Brisco P, Shultz J, Ekenberg S, Agulnik AI, Agulnik I, Shramm D, Bavister B, Abdul-Mawgood A, VandeBerg J (October 1996). "Gene sequence and evolutionary conservation of human SMCY". Nature Genetics. 14 (2): 128–9. doi:10.1038/ng1096-128. PMID   8841177. S2CID   23054699.
  7. 1 2 "Entrez Gene: JARID1D jumonji, AT rich interactive domain 1D".

Further reading

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