• Gene id: 10765

Gene Summary

• Gene Symbol: KDM5B   Gene   UCSC   Ensembl
• Aliases: CT31, JARID1B, MRT65, PLU-1, PLU1, PPP1R98, PUT1, RBBP2H1A, RBP2-H1
• Gene name: lysine demethylase 5B
• Alternate names: lysine-specific demethylase 5B, cancer/testis antigen 31, histone demethylase JARID1B, jumonji, AT rich interactive domain 1B, jumonji/ARID domain-containing protein 1B, lysine (K)-specific demethylase 5B, protein phosphatase 1, regulatory subunit 98, putative D,
• Gene location: 1q32.1 (202809469: 202724494)     Exons: 30     NC_000001.11
• Gene summary(Entrez): This gene encodes a lysine-specific histone demethylase that belongs to the jumonji/ARID domain-containing family of histone demethylases. The encoded protein is capable of demethylating tri-, di- and monomethylated lysine 4 of histone H3. This protein pl
• OMIM: 605393

Protein Summary

• Protein general information: Q9UGL1  
  • Name: Lysine specific demethylase 5B (EC 1.14.11. ) (Cancer/testis antigen 31) (CT31) (Histone demethylase JARID1B) (Jumonji/ARID domain containing protein 1B) (PLU 1) (Retinoblastoma binding protein 2 homolog 1) (RBP2 H1)
  • Length: 1544  
  • Mass: 175658
  • Tissue specificity: Ubiquitously expressed, with highest levels in testis. Down-regulated in melanoma and glioblastoma. Up-regulated in breast cancer (at protein level). {ECO
• Sequence:

  MEAATTLHPGPRPALPLGGPGPLGEFLPPPECPVFEPSWEEFADPFAFIHKIRPIAEQTGICKVRPPPDWQPPFA
  CDVDKLHFTPRIQRLNELEAQTRVKLNFLDQIAKYWELQGSTLKIPHVERKILDLFQLNKLVAEEGGFAVVCKDR
  KWTKIATKMGFAPGKAVGSHIRGHYERILNPYNLFLSGDSLRCLQKPNLTTDTKDKEYKPHDIPQRQSVQPSETC
  PPARRAKRMRAEAMNIKIEPEETTEARTHNLRRRMGCPTPKCENEKEMKSSIKQEPIERKDYIVENEKEKPKSRS
  KKATNAVDLYVCLLCGSGNDEDRLLLCDGCDDSYHTFCLIPPLHDVPKGDWRCPKCLAQECSKPQEAFGFEQAAR
  DYTLRTFGEMADAFKSDYFNMPVHMVPTELVEKEFWRLVSTIEEDVTVEYGADIASKEFGSGFPVRDGKIKLSPE
  EEEYLDSGWNLNNMPVMEQSVLAHITADICGMKLPWLYVGMCFSSFCWHIEDHWSYSINYLHWGEPKTWYGVPGY
  AAEQLENVMKKLAPELFVSQPDLLHQLVTIMNPNTLMTHEVPVYRTNQCAGEFVITFPRAYHSGFNQGFNFAEAV
  NFCTVDWLPLGRQCVEHYRLLHRYCVFSHDEMICKMASKADVLDVVVASTVQKDMAIMIEDEKALRETVRKLGVI
  DSERMDFELLPDDERQCVKCKTTCFMSAISCSCKPGLLVCLHHVKELCSCPPYKYKLRYRYTLDDLYPMMNALKL
  RAESYNEWALNVNEALEAKINKKKSLVSFKALIEESEMKKFPDNDLLRHLRLVTQDAEKCASVAQQLLNGKRQTR
  YRSGGGKSQNQLTVNELRQFVTQLYALPCVLSQTPLLKDLLNRVEDFQQHSQKLLSEETPSAAELQDLLDVSFEF
  DVELPQLAEMRIRLEQARWLEEVQQACLDPSSLTLDDMRRLIDLGVGLAPYSAVEKAMARLQELLTVSEHWDDKA
  KSLLKARPRHSLNSLATAVKEIEEIPAYLPNGAALKDSVQRARDWLQDVEGLQAGGRVPVLDTLIELVTRGRSIP
  VHLNSLPRLETLVAEVQAWKECAVNTFLTENSPYSLLEVLCPRCDIGLLGLKRKQRKLKEPLPNGKKKSTKLESL
  SDLERALTESKETASAMATLGEARLREMEALQSLRLANEGKLLSPLQDVDIKICLCQKAPAAPMIQCELCRDAFH
  TSCVAVPSISQGLRIWLCPHCRRSEKPPLEKILPLLASLQRIRVRLPEGDALRYMIERTVNWQHRAQQLLSSGNL
  KFVQDRVGSGLLYSRWQASAGQVSDTNKVSQPPGTTSFSLPDDWDNRTSYLHSPFSTGRSCIPLHGVSPEVNELL
  MEAQLLQVSLPEIQELYQTLLAKPSPAQQTDRSSPVRPSSEKNDCCRGKRDGINSLERKLKRRLEREGLSSERWE
  RVKKMRTPKKKKIKLSHPKDMNNFKLERERSYELVRSAETHSLPSDTSYSEQEDSEDEDAICPAVSCLQPEGDEV
  DWVQCDGSCNQWFHQVCVGVSPEMAEKEDYICVRCTVKDAPSRK

• Structural information:
  • Protein Domains: (32..7-)
    (/note="JmjN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00537-)
    (97..18-)
    (/note="ARID-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00355-)
    (453..61-)
    (/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: 2MA5 2MNY 2MNZ 5A1F 5A3N 5A3P 5A3T 5A3W 5FPL 5FPU 5FUN 5FUP 5FV3 5FY4 5FY5 5FY9 5FYB 5FYS 5FYT 5FYU 5FYV 5FYY 5FYZ 5FZ0 5FZ1 5FZ3 5FZ4 5FZ6 5FZ7 5FZ8 5FZ9 5FZA 5FZB 5FZC 5FZD 5FZE 5FZF 5FZG 5FZH 5FZI 5FZK 5FZL 5FZM 5LW9 5LWB 6EIN 6EIU 6EIY 6EJ0 6EJ1 6EK6 6H4Z 6H50 6H51 6H52
  • PDBsum: 2MA5 2MNY 2MNZ 5A1F 5A3N 5A3P 5A3T 5A3W 5FPL 5FPU 5FUN 5FUP 5FV3 5FY4 5FY5 5FY9 5FYB 5FYS 5FYT 5FYU 5FYV 5FYY 5FYZ 5FZ0 5FZ1 5FZ3 5FZ4 5FZ6 5FZ7 5FZ8 5FZ9 5FZA 5FZB 5FZC 5FZD 5FZE 5FZF 5FZG 5FZH 5FZI 5FZK 5FZL 5FZM 5LW9 5LWB 6EIN 6EIU 6EIY 6EJ0 6EJ1 6EK6 6H4Z 6H50 6H51 6H52
  • DIP: 53652
  • STRING: ENSP00000356234
• Other Databases: GeneCards:  KDM5B  Malacards:  KDM5B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032453	histone demethylase activity (H3-K4 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:0042393	histone binding	IDA	molecular function
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:0032453	histone demethylase activity (H3-K4 specific)	IMP	molecular function
GO:0008270	zinc ion binding	IMP	molecular function
GO:0032453	histone demethylase activity (H3-K4 specific)	IMP	molecular function
GO:0032453	histone demethylase activity (H3-K4 specific)	IMP	molecular function
GO:0034720	histone H3-K4 demethylation	IMP	biological process
GO:0034720	histone H3-K4 demethylation	IMP	biological process
GO:0034720	histone H3-K4 demethylation	IMP	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0048511	rhythmic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0034647	histone demethylase activity (H3-trimethyl-K4 specific)	IEA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0007338	single fertilization	IEA	biological process
GO:0009791	post-embryonic development	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0032453	histone demethylase activity (H3-K4 specific)	IEA	molecular function
GO:0033601	positive regulation of mammary gland epithelial cell proliferation	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:2000864	regulation of estradiol secretion	IEA	biological process
GO:0044344	cellular response to fibroblast growth factor stimulus	IEA	biological process
GO:0060992	response to fungicide	IEA	biological process
GO:0070306	lens fiber cell differentiation	IEA	biological process
GO:0034720	histone H3-K4 demethylation	IEA	biological process
GO:0060444	branching involved in mammary gland duct morphogenesis	IEA	biological process
GO:0060763	mammary duct terminal end bud growth	IEA	biological process
GO:0061038	uterus morphogenesis	IEA	biological process
GO:1990830	cellular response to leukemia inhibitory factor	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	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:0034721	histone H3-K4 demethylation, trimethyl-H3-K4-specific	IEA	biological process
GO:1990837	sequence-specific double-stranded DNA binding	IMP	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0034647	histone demethylase activity (H3-trimethyl-K4 specific)	IMP	molecular function
GO:0003714	transcription corepressor activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Prostate cancer	PMID:18048344
urinary bladder cancer	PMID:20226085
Breast cancer	PMID:21369698
Malignant glioma	PMID:25450384
Malignant glioma	PMID:25450384
Esophagus squamous cell carcinoma	PMID:22534467
Uveal melanoma	PMID:22669717
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881