• Gene id: 5927

Gene Summary

• Gene Symbol: KDM5A   Gene   UCSC   Ensembl
• Aliases: RBBP-2, RBBP2, RBP2
• Gene name: lysine demethylase 5A
• Alternate names: lysine-specific demethylase 5A, Jumonji, AT rich interactive domain 1A (RBP2-like), histone demethylase JARID1A, jumonji/ARID domain-containing protein 1A, lysine (K)-specific demethylase 5A, retinoblastoma binding protein 2,
• Gene location: 12p13.33 (389319: 280056)     Exons: 28     NC_000012.12
• Gene summary(Entrez): This gene encodes a member of the Jumonji, AT-rich interactive domain 1 (JARID1) histone demethylase protein family. The encoded protein plays a role in gene regulation through the histone code by specifically demethylating lysine 4 of histone H3. The enc
• OMIM: 604651

Protein Summary

• Protein general information: P29375  
  • Name: Lysine specific demethylase 5A (EC 1.14.11. ) (Histone demethylase JARID1A) (Jumonji/ARID domain containing protein 1A) (Retinoblastoma binding protein 2) (RBBP 2)
  • Length: 1690  
  • Mass: 192095
• Sequence:

  MAGVGPGGYAAEFVPPPECPVFEPSWEEFTDPLSFIGRIRPLAEKTGICKIRPPKDWQPPFACEVKSFRFTPRVQ
  RLNELEAMTRVRLDFLDQLAKFWELQGSTLKIPVVERKILDLYALSKIVASKGGFEMVTKEKKWSKVGSRLGYLP
  GKGTGSLLKSHYERILYPYELFQSGVSLMGVQMPNLDLKEKVEPEVLSTDTQTSPEPGTRMNILPKRTRRVKTQS
  ESGDVSRNTELKKLQIFGAGPKVVGLAMGTKDKEDEVTRRRKVTNRSDAFNMQMRQRKGTLSVNFVDLYVCMFCG
  RGNNEDKLLLCDGCDDSYHTFCLIPPLPDVPKGDWRCPKCVAEECSKPREAFGFEQAVREYTLQSFGEMADNFKS
  DYFNMPVHMVPTELVEKEFWRLVSSIEEDVIVEYGADISSKDFGSGFPVKDGRRKILPEEEEYALSGWNLNNMPV
  LEQSVLAHINVDISGMKVPWLYVGMCFSSFCWHIEDHWSYSINYLHWGEPKTWYGVPSHAAEQLEEVMRELAPEL
  FESQPDLLHQLVTIMNPNVLMEHGVPVYRTNQCAGEFVVTFPRAYHSGFNQGYNFAEAVNFCTADWLPIGRQCVN
  HYRRLRRHCVFSHEELIFKMAADPECLDVGLAAMVCKELTLMTEEETRLRESVVQMGVLMSEEEVFELVPDDERQ
  CSACRTTCFLSALTCSCNPERLVCLYHPTDLCPCPMQKKCLRYRYPLEDLPSLLYGVKVRAQSYDTWVSRVTEAL
  SANFNHKKDLIELRVMLEDAEDRKYPENDLFRKLRDAVKEAETCASVAQLLLSKKQKHRQSPDSGRTRTKLTVEE
  LKAFVQQLFSLPCVISQARQVKNLLDDVEEFHERAQEAMMDETPDSSKLQMLIDMGSSLYVELPELPRLKQELQQ
  ARWLDEVRLTLSDPQQVTLDVMKKLIDSGVGLAPHHAVEKAMAELQELLTVSERWEEKAKVCLQARPRHSVASLE
  SIVNEAKNIPAFLPNVLSLKEALQKAREWTAKVEAIQSGSNYAYLEQLESLSAKGRPIPVRLEALPQVESQVAAA
  RAWRERTGRTFLKKNSSHTLLQVLSPRTDIGVYGSGKNRRKKVKELIEKEKEKDLDLEPLSDLEEGLEETRDTAM
  VVAVFKEREQKEIEAMHSLRAANLAKMTMVDRIEEVKFCICRKTASGFMLQCELCKDWFHNSCVPLPKSSSQKKG
  SSWQAKEVKFLCPLCMRSRRPRLETILSLLVSLQKLPVRLPEGEALQCLTERAMSWQDRARQALATDELSSALAK
  LSVLSQRMVEQAAREKTEKIISAELQKAAANPDLQGHLPSFQQSAFNRVVSSVSSSPRQTMDYDDEETDSDEDIR
  ETYGYDMKDTASVKSSSSLEPNLFCDEEIPIKSEEVVTHMWTAPSFCAEHAYSSASKSCSQGSSTPRKQPRKSPL
  VPRSLEPPVLELSPGAKAQLEELMMVGDLLEVSLDETQHIWRILQATHPPSEDRFLHIMEDDSMEEKPLKVKGKD
  SSEKKRKRKLEKVEQLFGEGKQKSKELKKMDKPRKKKLKLGADKSKELNKLAKKLAKEEERKKKKEKAAAAKVEL
  VKESTEKKREKKVLDIPSKYDWSGAEESDDENAVCAAQNCQRPCKDKVDWVQCDGGCDEWFHQVCVGVSPEMAEN
  EDYICINCAKKQGPVSPGPAPPPSFIMSYKLPMEDLKETS

• Structural information:
  • Protein Domains: (19..6-)
    (/note="JmjN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00537-)
    (84..17-)
    (/note="ARID-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00355-)
    (437..60-)
    (/note="JmjC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00538"-)
  • Interpro: IPR001606  IPR036431  IPR003347  IPR003349  IPR013637   IPR019786  IPR004198  IPR011011  IPR001965  IPR019787  IPR013083  
  • Prosite: PS51011 PS51184 PS51183 PS01359 PS50016
  • PDB: 2JXJ 2KGG 2KGI 3GL6 5C11 5CEH 5E6H 5ISL 5IVB 5IVC 5IVE 5IVF 5IVJ 5IVV 5IVY 5IW0 5IWF 5K4L 5V9P 5V9T 6BGU 6BGV 6BGW 6BGX 6BGY 6BGZ 6BH0 6BH1 6BH2 6BH3 6BH4 6BH5 6DQ4 6DQ5 6DQ6 6DQ7 6DQ8 6DQ9 6DQA 6DQB 6DQC 6DQD 6DQE 6DQF
  • PDBsum: 2JXJ 2KGG 2KGI 3GL6 5C11 5CEH 5E6H 5ISL 5IVB 5IVC 5IVE 5IVF 5IVJ 5IVV 5IVY 5IW0 5IWF 5K4L 5V9P 5V9T 6BGU 6BGV 6BGW 6BGX 6BGY 6BGZ 6BH0 6BH1 6BH2 6BH3 6BH4 6BH5 6DQ4 6DQ5 6DQ6 6DQ7 6DQ8 6DQ9 6DQA 6DQB 6DQC 6DQD 6DQE 6DQF
  • DIP: 472
  • STRING: ENSP00000382688
• Other Databases: GeneCards:  KDM5A  Malacards:  KDM5A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	molecular function
GO:0035097	histone methyltransferase complex	IBA	cellular component
GO:0034647	histone demethylase activity (H3-trimethyl-K4 specific)	IBA	molecular function
GO:0032452	histone demethylase activity	IBA	molecular function
GO:0006338	chromatin remodeling	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0008270	zinc ion binding	IDA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0035064	methylated histone binding	IDA	molecular function
GO:0042393	histone binding	IDA	molecular function
GO:1901726	negative regulation of histone deacetylase activity	ISS	biological process
GO:0003713	transcription coactivator activity	ISS	molecular function
GO:0032922	circadian regulation of gene expression	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0048511	rhythmic process	IEA	biological process
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0034647	histone demethylase activity (H3-trimethyl-K4 specific)	IEA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0034720	histone H3-K4 demethylation	IEA	biological process
GO:0032922	circadian regulation of gene expression	IEA	biological process
GO:0031490	chromatin DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003713	transcription coactivator activity	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0034720	histone H3-K4 demethylation	IEA	biological process
GO:0008584	male gonad development	IEA	biological process
GO:1901726	negative regulation of histone deacetylase activity	IEA	biological process
GO:0032993	protein-DNA complex	IEA	cellular component
GO:0003682	chromatin binding	IEA	molecular function
GO:0007283	spermatogenesis	IEA	biological process
GO:0005730	nucleolus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0034721	histone H3-K4 demethylation, trimethyl-H3-K4-specific	IEA	biological process
GO:0034721	histone H3-K4 demethylation, trimethyl-H3-K4-specific	IEA	biological process
GO:0034721	histone H3-K4 demethylation, trimethyl-H3-K4-specific	IEA	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IMP	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0051090	regulation of DNA-binding transcription factor activity	IMP	biological process
GO:0034647	histone demethylase activity (H3-trimethyl-K4 specific)	IDA	molecular function
GO:0034720	histone H3-K4 demethylation	IDA	biological process
GO:0034648	histone demethylase activity (H3-dimethyl-K4 specific)	IDA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process

Diseases

Associated diseases	References
Prostate cancer	PMID:24200674
Breast cancer	PMID:23266085
lung non-small cell carcinoma	PMID:25162518
stomach carcinoma	PMID:23794145
Ankylosing spondylitis	PMID:24069348
Alopecia areata	PMID:21936853
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881