Male infertility (Homo sapiens)

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13111105, 23149617221831512204318105, 1921682242129217REC8common cell functionH2BFWT a sperm cell specific histonePRDM9BRDTinteracts with different proteinsthat conctrol the translation of mRNAs of spermatogenesis associated proteinsPRM1-3sperm specific histone like proteinsMOV10L1binds piRNA precursors, unwinds them for further processingpiRNASpecific spermatogenic functionmicroRNP 15S particleRNA-Induced Silencing ComplexretrotransposonsEndocrine functionNANOS1PIWIL 1-4Sperm specific gene expressionBuP-TEFb complexDNAsynapsed chromosome axisPIWILEPPINHORMAD1 and HORMAD21. Butyrylation of H4 by EP300 or CREBBP2. Stimulates binding of butyrylated H4 to BRDT3. Compelex of H4(Bu) and BRDT inhibits sperm cell development specific genesMeDNAPRMT6DAZLMSH5PRM2HMGA1BRCA2ARPRM2SRD5A2MOV10L1UBE2BPACRGBHMTDND1TMEM132EPRM1KLK2CXXC1PEMTSTRA8DAZLSLC46A1SHMT1DAZ1CDK9Coenzyme APOLBFASPSAT1ATMOR2W3XRCC5MMP9XRCC3CTCFLPON1CATHLA-DRAUBR2HORMAD1XPCPARP1AGO2SOD3CLOCKSIRPGPIWIL3LRWD1SOD2TRIP13FASLGCCNT1RGS9PRMT6DDX20PRM3ERCC1MSMBLOC203413CREBBPTCN2MTHFD1LIG4BCL2NOS2CHD2TSSK4AmoxicillinNOS1DAZ2INSRNQO1PON2AHRNANOS1CYP17A1MLH3YBX2PIWIL1SEPT12VCXSPO11MDM2MTHFRXRCC2DAZ3ABCB1SOX5EP300MMP2CDC42BPADDX4GPX1EPPINGNAO1SPATA17SLC16A7PRM2PIWIL4TNFCCNT2piRNA precursorABLIM1SEMG1TEX15AHRRPRDM9HIST1H4ATSSK6ARNTLPOLGUSP8DAZ4CCNA1FOLH1MLH1APOBGentamicinCRISP2Butyryl-CoAEPSTI1CCDC36XRCC4RAG1THBS1REC8BRDTNFE2L2UBDLTFETV5TAS2R38CCNKCLURFC1PUM2SEMG1MAS1LH2BFWTHIST3H3PEX10ERCC2PIWIL2MTRRMTRMSH4KDM3AESR1PMS2USP26CYP26B1HORMAD2SIRPANOS3ESR2DDX4SPO11CYP1A1BRDTHIST1H4ABuHIST1H4ABRDTCCNA1DAZLDAZLEPPINH2BFWTHORMAD1HORMAD2HORMAD1HORMAD2DNAsynapsed chromosome axis15MOV10L115NANOS117NANOS1PIWIL1PIWIL4PIWIL3PIWIL25, 235, 23piRNA5, 23PRDM9VCXCTCFLPRDM966, 1664Pathways of genes involved in specific spermatogenic functionPRM1PRM2YBX2PRM1PRM22PRMT6HIST3H3HIST1H4AHMGA1HIST1H4AMeMePOLB10Me10


Description

Pathway(s) of genes involved in male infertility. The list of genes is derived from Krausz et al.(1) and can be sorted in general (common) cell function, endocrine function and specific spermatogenic function.

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Bibliography

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  1. Kim NH, Kim SN, Seo DW, Han JW, Kim YK; ''PRMT6 overexpression upregulates TSP-1 and downregulates MMPs: its implication in motility and invasion.''; Biochem Biophys Res Commun, 2013 PubMed Europe PMC Scholia
  2. Imai Y, Baudat F, Taillepierre M, Stanzione M, Toth A, de Massy B; ''The PRDM9 KRAB domain is required for meiosis and involved in protein interactions.''; Chromosoma, 2017 PubMed Europe PMC Scholia
  3. Neale MJ, Keeney S; ''Clarifying the mechanics of DNA strand exchange in meiotic recombination.''; Nature, 2006 PubMed Europe PMC Scholia
  4. Kalmykova AI, Klenov MS, Gvozdev VA; ''Argonaute protein PIWI controls mobilization of retrotransposons in the Drosophila male germline.''; Nucleic Acids Res, 2005 PubMed Europe PMC Scholia
  5. Hashemi MS, Mozdarani H, Ghaedi K, Nasr-Esfahani MH; ''Among seven testis-specific molecular markers, SPEM1 appears to have a significant clinical value for prediction of sperm retrieval in azoospermic men.''; Andrology, 2018 PubMed Europe PMC Scholia
  6. Chen Y, Sprung R, Tang Y, Ball H, Sangras B, Kim SC, Falck JR, Peng J, Gu W, Zhao Y; ''Lysine propionylation and butyrylation are novel post-translational modifications in histones.''; Mol Cell Proteomics, 2007 PubMed Europe PMC Scholia
  7. Krausz C, Escamilla AR, Chianese C; ''Genetics of male infertility: from research to clinic.''; Reproduction, 2015 PubMed Europe PMC Scholia
  8. Goudarzi A, Zhang D, Huang H, Barral S, Kwon OK, Qi S, Tang Z, Buchou T, Vitte AL, He T, Cheng Z, Montellier E, Gaucher J, Curtet S, Debernardi A, Charbonnier G, Puthier D, Petosa C, Panne D, Rousseaux S, Roeder RG, Zhao Y, Khochbin S; ''Dynamic Competing Histone H4 K5K8 Acetylation and Butyrylation Are Hallmarks of Highly Active Gene Promoters.''; Mol Cell, 2016 PubMed Europe PMC Scholia
  9. Wojtasz L, Daniel K, Roig I, Bolcun-Filas E, Xu H, Boonsanay V, Eckmann CR, Cooke HJ, Jasin M, Keeney S, McKay MJ, Toth A; ''Mouse HORMAD1 and HORMAD2, two conserved meiotic chromosomal proteins, are depleted from synapsed chromosome axes with the help of TRIP13 AAA-ATPase.''; PLoS Genet, 2009 PubMed Europe PMC Scholia
  10. Karaman M, Budak H, Çiftci M; ''Amoxicillin and gentamicin antibiotics treatment adversely influence the fertility and morphology through decreasing the Dazl gene expression level and increasing the oxidative stress.''; Arch Physiol Biochem, 2018 PubMed Europe PMC Scholia
  11. Paasch U, Heidenreich F, Pursche T, Kuhlisch E, Kettner K, Grunewald S, Kratzsch J, Dittmar G, Glander HJ, Hoflack B, Kriegel TM; ''Identification of increased amounts of eppin protein complex components in sperm cells of diabetic and obese individuals by difference gel electrophoresis.''; Mol Cell Proteomics, 2011 PubMed Europe PMC Scholia
  12. El-Andaloussi N, Valovka T, Toueille M, Steinacher R, Focke F, Gehrig P, Covic M, Hassa PO, Schär P, Hübscher U, Hottiger MO; ''Arginine methylation regulates DNA polymerase beta.''; Mol Cell, 2006 PubMed Europe PMC Scholia
  13. Vourekas A, Zheng K, Fu Q, Maragkakis M, Alexiou P, Ma J, Pillai RS, Mourelatos Z, Wang PJ; ''The RNA helicase MOV10L1 binds piRNA precursors to initiate piRNA processing.''; Genes Dev, 2015 PubMed Europe PMC Scholia
  14. Gaucher J, Boussouar F, Montellier E, Curtet S, Buchou T, Bertrand S, Hery P, Jounier S, Depaux A, Vitte AL, Guardiola P, Pernet K, Debernardi A, Lopez F, Holota H, Imbert J, Wolgemuth DJ, Gérard M, Rousseaux S, Khochbin S; ''Bromodomain-dependent stage-specific male genomeprogramming by Brdt.''; EMBO J, 2012 PubMed Europe PMC Scholia
  15. Tekur S, Pawlak A, Guellaen G, Hecht NB; ''Contrin, the human homologue of a germ-cell Y-box-binding protein: cloning, expression, and chromosomal localization.''; J Androl, 1999 PubMed Europe PMC Scholia
  16. Reynolds N, Collier B, Maratou K, Bingham V, Speed RM, Taggart M, Semple CA, Gray NK, Cooke HJ; ''Dazl binds in vivo to specific transcripts and can regulate the pre-meiotic translation of Mvh in germ cells.''; Hum Mol Genet, 2005 PubMed Europe PMC Scholia
  17. Yan KS, Yan S, Farooq A, Han A, Zeng L, Zhou MM; ''Structure and conserved RNA binding of the PAZ domain.''; Nature, 2003 PubMed Europe PMC Scholia
  18. Giebler M, Greither T, Müller L, Mösinger C, Behre HM; ''AlteredPIWI-LIKE 1andPIWI-LIKE 2mRNA expression in ejaculated spermatozoa of men with impaired sperm characteristics.''; Asian J Androl, 2018 PubMed Europe PMC Scholia
  19. Ginter-Matuszewska B, Kusz K, Spik A, Grzeszkowiak D, Rembiszewska A, Kupryjanczyk J, Jaruzelska J; ''NANOS1 and PUMILIO2 bind microRNA biogenesis factor GEMIN3, within chromatoid body in human germ cells.''; Histochem Cell Biol, 2011 PubMed Europe PMC Scholia
  20. O'Rand MG, Widgren EE, Hamil KG, Silva EJ, Richardson RT; ''Functional studies of eppin.''; Biochem Soc Trans, 2011 PubMed Europe PMC Scholia
  21. Michaud-Levesque J, Richard S; ''Thrombospondin-1 is a transcriptional repression target of PRMT6.''; J Biol Chem, 2009 PubMed Europe PMC Scholia
  22. Aguero T, Jin Z, Chorghade S, Kalsotra A, King ML, Yang J; ''Maternal Dead-end 1 promotes translation ofnanos1by binding the eIF3 complex.''; Development, 2017 PubMed Europe PMC Scholia
  23. Altemose N, Noor N, Bitoun E, Tumian A, Imbeault M, Chapman JR, Aricescu AR, Myers SR; ''A map of human PRDM9 binding provides evidence for novel behaviors of PRDM9 and other zinc-finger proteins in meiosis.''; Elife, 2017 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
119920view09:24, 17 September 2021FehrhartUpdated SEPT12 label to SEPTIN12
116562view12:58, 7 May 2021EweitzModified title
106810view13:29, 17 September 2019MaintBotHMDB identifier normalization
105359view07:58, 4 August 2019EgonwIt's a modification
105324view10:48, 30 July 2019Fehrhartwork in progress
105323view09:02, 30 July 2019Fehrhartwork in progress
105322view09:00, 30 July 2019Fehrhartadded PRDM9
105321view08:31, 30 July 2019Fehrhartadded NANOS and PIWIL
105299view13:56, 29 July 2019EgonwReplaced a secondary ChEBI identifiers with a primary identifier.
105298view12:00, 29 July 2019FehrhartAdded MOV10L1
105297view11:33, 29 July 2019FehrhartOntology Term : 'disease pathway' added !
105296view11:33, 29 July 2019FehrhartOntology Term : 'sperm' added !
105295view11:33, 29 July 2019FehrhartOntology Term : 'male infertility' added !
105294view11:31, 29 July 2019Fehrhartadded HORMAD section
105293view11:12, 29 July 2019FehrhartModified description
105292view11:11, 29 July 2019FehrhartNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
ABCB1GeneProductENSG00000085563 (Ensembl)
ABLIM1GeneProductENSG00000099204 (Ensembl)
AGO2GeneProductENSG00000123908 (Ensembl)
AHRGeneProductENSG00000106546 (Ensembl)
AHRRGeneProductENSG00000063438 (Ensembl)
APOBGeneProductENSG00000084674 (Ensembl)
ARGeneProductENSG00000169083 (Ensembl)
ARNTLGeneProductENSG00000133794 (Ensembl)
ATMGeneProductENSG00000149311 (Ensembl)
AmoxicillinMetaboliteHMDB15193 (HMDB)
BCL2GeneProductENSG00000171791 (Ensembl)
BHMTGeneProductENSG00000145692 (Ensembl)
BRCA2GeneProductENSG00000139618 (Ensembl)
BRDTGeneProductENSG00000137948 (Ensembl)
Butyryl-CoAMetaboliteCHEBI:15517 (ChEBI)
CATGeneProductENSG00000121691 (Ensembl)
CCDC36GeneProductENSG00000173421 (Ensembl) IHO1
CCNA1GeneProductENSG00000133101 (Ensembl)
CCNKGeneProductENSG00000090061 (Ensembl)
CCNT1GeneProductENSG00000129315 (Ensembl)
CCNT2GeneProductENSG00000082258 (Ensembl)
CDC42BPAGeneProductENSG00000143776 (Ensembl)
CDK9GeneProductENSG00000136807 (Ensembl)
CHD2GeneProductENSG00000173575 (Ensembl)
CLOCKGeneProductENSG00000134852 (Ensembl)
CLUGeneProductENSG00000120885 (Ensembl)
CREBBPGeneProductENSG00000005339 (Ensembl)
CRISP2GeneProductENSG00000124490 (Ensembl)
CTCFLGeneProductENSG00000124092 (Ensembl)
CXXC1GeneProductENSG00000154832 (Ensembl)
CYP17A1GeneProductENSG00000148795 (Ensembl)
CYP1A1GeneProductENSG00000140465 (Ensembl)
CYP26B1GeneProductENSG00000003137 (Ensembl)
Coenzyme AMetaboliteHMDB01423 (HMDB)
DAZ1GeneProductENSG00000188120 (Ensembl)
DAZ2GeneProductENSG00000205944 (Ensembl)
DAZ3GeneProductENSG00000187191 (Ensembl)
DAZ4GeneProductENSG00000205916 (Ensembl)
DAZLGeneProductENSG00000092345 (Ensembl)
DDX20GeneProductENSG00000064703 (Ensembl) GEMIN3
DDX4GeneProductENSG00000152670 (Ensembl)
DND1GeneProductENSG00000256453 (Ensembl)
EP300GeneProductENSG00000100393 (Ensembl)
EPPINGeneProductENSG00000101448 (Ensembl)
EPSTI1GeneProductENSG00000133106 (Ensembl)
ERCC1GeneProductENSG00000012061 (Ensembl)
ERCC2GeneProductENSG00000104884 (Ensembl)
ESR1GeneProductENSG00000091831 (Ensembl)
ESR2GeneProductENSG00000140009 (Ensembl)
ETV5GeneProductENSG00000244405 (Ensembl)
FASGeneProductENSG00000026103 (Ensembl)
FASLGGeneProductENSG00000117560 (Ensembl)
FOLH1GeneProductENSG00000086205 (Ensembl)
GNAO1GeneProductENSG00000087258 (Ensembl)
GPX1GeneProductENSG00000233276 (Ensembl)
GentamicinMetaboliteCHEBI:17833 (ChEBI)
H2BFWTGeneProductENSG00000123569 (Ensembl)
HIST1H4AGeneProductENSG00000278637 (Ensembl)
HIST3H3GeneProductENSG00000168148 (Ensembl)
HLA-DRAGeneProductENSG00000204287 (Ensembl)
HMGA1GeneProductENSG00000137309 (Ensembl)
HORMAD1GeneProductENSG00000143452 (Ensembl)
HORMAD2GeneProductENSG00000176635 (Ensembl)
INSRGeneProductENSG00000171105 (Ensembl)
KDM3AGeneProductENSG00000115548 (Ensembl) Alternative name JMJD1A, in the article faulty as JMJDIA
KLK2GeneProductENSG00000167751 (Ensembl)
LIG4GeneProductENSG00000174405 (Ensembl)
LOC203413GeneProductLocus without annotation yet
LRWD1GeneProductENSG00000161036 (Ensembl)
LTFGeneProductENSG00000012223 (Ensembl)
MAS1LGeneProductENSG00000204687 (Ensembl)
MDM2GeneProductENSG00000135679 (Ensembl)
MLH1GeneProductENSG00000076242 (Ensembl)
MLH3GeneProductENSG00000119684 (Ensembl)
MMP2GeneProductENSG00000087245 (Ensembl)
MMP9GeneProductENSG00000100985 (Ensembl)
MOV10L1GeneProductENSG00000073146 (Ensembl)
MSH4GeneProductENSG00000057468 (Ensembl)
MSH5GeneProductENSG00000204410 (Ensembl)
MSMBGeneProductENSG00000263639 (Ensembl)
MTHFD1GeneProductENSG00000100714 (Ensembl)
MTHFRGeneProductENSG00000177000 (Ensembl)
MTRGeneProductENSG00000116984 (Ensembl)
MTRRGeneProductENSG00000124275 (Ensembl)
NANOS1GeneProductENSG00000188613 (Ensembl)
NFE2L2GeneProductENSG00000116044 (Ensembl)
NOS1GeneProductENSG00000089250 (Ensembl)
NOS2GeneProductENSG00000007171 (Ensembl)
NOS3GeneProductENSG00000164867 (Ensembl)
NQO1GeneProductENSG00000181019 (Ensembl)
OR2W3GeneProductENSG00000238243 (Ensembl)
PACRGGeneProductENSG00000112530 (Ensembl)
PARP1GeneProductENSG00000143799 (Ensembl)
PEMTGeneProductENSG00000133027 (Ensembl)
PEX10GeneProductENSG00000157911 (Ensembl)
PIWIL1GeneProductENSG00000125207 (Ensembl)
PIWIL2GeneProductENSG00000197181 (Ensembl)
PIWIL3GeneProductENSG00000184571 (Ensembl)
PIWIL4GeneProductENSG00000134627 (Ensembl)
PMS2GeneProductENSG00000122512 (Ensembl)
POLBGeneProductENSG00000070501 (Ensembl)
POLGGeneProductENSG00000140521 (Ensembl)
PON1GeneProductENSG00000005421 (Ensembl)
PON2GeneProductENSG00000105854 (Ensembl)
PRDM9GeneProductENSG00000164256 (Ensembl)
PRM1GeneProductENSG00000175646 (Ensembl)
PRM2GeneProductENSG00000122304 (Ensembl)
PRM3GeneProductENSG00000178257 (Ensembl)
PRMT6GeneProductENSG00000198890 (Ensembl)
PSAT1GeneProductENSG00000135069 (Ensembl)
PUM2GeneProductENSG00000055917 (Ensembl) PUMILIO2
RAG1GeneProductENSG00000166349 (Ensembl)
REC8GeneProductENSG00000100918 (Ensembl)
RFC1GeneProductENSG00000035928 (Ensembl)
RGS9GeneProductENSG00000108370 (Ensembl)
SEMG1GeneProductENSG00000124233 (Ensembl)
SEPT12GeneProductENSG00000140623 (Ensembl)
SHMT1GeneProductENSG00000176974 (Ensembl)
SIRPAGeneProductENSG00000198053 (Ensembl)
SIRPGGeneProductENSG00000089012 (Ensembl)
SLC16A7GeneProductENSG00000118596 (Ensembl)
SLC46A1GeneProductENSG00000076351 (Ensembl) also known as PCFT1
SOD2GeneProductENSG00000112096 (Ensembl)
SOD3GeneProductENSG00000109610 (Ensembl)
SOX5GeneProductENSG00000134532 (Ensembl)
SPATA17GeneProductENSG00000162814 (Ensembl)
SPO11GeneProductENSG00000054796 (Ensembl)
SRD5A2GeneProductENSG00000277893 (Ensembl)
STRA8GeneProductENSG00000146857 (Ensembl)
TAS2R38GeneProductENSG00000257138 (Ensembl)
TCN2GeneProductENSG00000185339 (Ensembl)
TEX15GeneProductENSG00000133863 (Ensembl)
THBS1GeneProductENSG00000137801 (Ensembl) TSP-1
TMEM132EGeneProductENSG00000181291 (Ensembl)
TNFGeneProductENSG00000232810 (Ensembl)
TRIP13GeneProductENSG00000071539 (Ensembl)
TSSK4GeneProductENSG00000139908 (Ensembl)
TSSK6GeneProductENSG00000178093 (Ensembl)
UBDGeneProductENSG00000213886 (Ensembl)
UBE2BGeneProductENSG00000119048 (Ensembl)
UBR2GeneProductENSG00000024048 (Ensembl)
USP26GeneProductENSG00000134588 (Ensembl)
USP8GeneProductENSG00000138592 (Ensembl)
VCXGeneProductENSG00000182583 (Ensembl)
XPCGeneProductENSG00000154767 (Ensembl)
XRCC2GeneProductENSG00000196584 (Ensembl)
XRCC3GeneProductENSG00000126215 (Ensembl)
XRCC4GeneProductENSG00000152422 (Ensembl)
XRCC5GeneProductENSG00000079246 (Ensembl)
YBX2GeneProductENSG00000006047 (Ensembl)
piRNA precursorRna

Annotated Interactions

No annotated interactions

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