• Gene id: 29102

Gene Summary

• Gene Symbol: DROSHA   Gene   UCSC   Ensembl
• Aliases: ETOHI2, HSA242976, RANSE3L, RN3, RNASE3L, RNASEN
• Gene name: drosha ribonuclease III
• Alternate names: ribonuclease 3, RNase III, drosha, double-stranded RNA-specific endoribonuclease, nuclear RNase III Drosha, p241, putative protein p241 which interacts with transcription factor Sp1, putative ribonuclease III, ribonuclease type III, nuclear,
• Gene location: 5p13.3 (31532174: 31400493)     Exons: 39     NC_000005.10
• Gene summary(Entrez): This gene encodes a ribonuclease (RNase) III double-stranded RNA-specific ribonuclease and subunit of the microprocessor protein complex, which catalyzes the initial processing step of microRNA (miRNA) synthesis. The encoded protein cleaves the stem loop
• OMIM: 608828

SNPs

rs642321

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.31400896T>A
NC_000005.10   g.31400896T>C
NC_000005.9   g.31401003T>A
NC_000005.9   g.31401003T>C
NG_051574.1   g.136280A>T
NG_051574.1   g.136280A>G
NM_013235.5   c.*536A>T
NM_013235.5   c.*536A>G
NM_013235.4   c.*536A>T
NM_013235.4   c.*536A>G
NM_00110  

rs10719

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.31401340A>G
NC_000005.10   g.31401340A>T
NC_000005.9   g.31401447A>G
NC_000005.9   g.31401447A>T
NG_051574.1   g.135836T>C
NG_051574.1   g.135836T>A
NM_013235.5   c.*92T>C
NM_013235.5   c.*92T>A
NM_013235.4   c.*92T>C
NM_013235.4   c.*92T>A
NM_001100412  

rs2291109

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.31532322A>G
NC_000005.10   g.31532322A>T
NC_000005.9   g.31532429A>G
NC_000005.9   g.31532429A>T
NG_051574.1   g.4854T>C
NG_051574.1   g.4854T>A
NM_018356.3   c.-71A>G
NM_018356.3   c.-71A>T
NM_018356.2   c.-71A>G
NM_018356.2   c.-71A>T
XM_011514062.3   c

rs17409893

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.31532682A>G
NC_000005.9   g.31532789A>G
NG_051574.1   g.4494T>C|SEQ=[A/G]|GENE=DROSHA
C5orf22   55322

Protein Summary

• Protein general information: Q9NRR4  
  • Name: Ribonuclease 3 (EC 3.1.26.3) (Protein Drosha) (Ribonuclease III) (RNase III) (p241)
  • Length: 1374  
  • Mass: 159,316
• Sequence:

  MMQGNTCHRMSFHPGRGCPRGRGGHGARPSAPSFRPQNLRLLHPQQPPVQYQYEPPSAPSTTFSNSPAPNFLPPR
  PDFVPFPPPMPPSAQGPLPPCPIRPPFPNHQMRHPFPVPPCFPPMPPPMPCPNNPPVPGAPPGQGTFPFMMPPPS
  MPHPPPPPVMPQQVNYQYPPGYSHHNFPPPSFNSFQNNPSSFLPSANNSSSPHFRHLPPYPLPKAPSERRSPERL
  KHYDDHRHRDHSHGRGERHRSLDRRERGRSPDRRRQDSRYRSDYDRGRTPSRHRSYERSRERERERHRHRDNRRS
  PSLERSYKKEYKRSGRSYGLSVVPEPAGCTPELPGEIIKNTDSWAPPLEIVNHRSPSREKKRARWEEEKDRWSDN
  QSSGKDKNYTSIKEKEPEETMPDKNEEEEEELLKPVWIRCTHSENYYSSDPMDQVGDSTVVGTSRLRDLYDKFEE
  ELGSRQEKAKAARPPWEPPKTKLDEDLESSSESECESDEDSTCSSSSDSEVFDVIAEIKRKKAHPDRLHDELWYN
  DPGQMNDGPLCKCSAKARRTGIRHSIYPGEEAIKPCRPMTNNAGRLFHYRITVSPPTNFLTDRPTVIEYDDHEYI
  FEGFSMFAHAPLTNIPLCKVIRFNIDYTIHFIEEMMPENFCVKGLELFSLFLFRDILELYDWNLKGPLFEDSPPC
  CPRFHFMPRFVRFLPDGGKEVLSMHQILLYLLRCSKALVPEEEIANMLQWEELEWQKYAEECKGMIVTNPGTKPS
  SVRIDQLDREQFNPDVITFPIIVHFGIRPAQLSYAGDPQYQKLWKSYVKLRHLLANSPKVKQTDKQKLAQREEAL
  QKIRQKNTMRREVTVELSSQGFWKTGIRSDVCQHAMMLPVLTHHIRYHQCLMHLDKLIGYTFQDRCLLQLAMTHP
  SHHLNFGMNPDHARNSLSNCGIRQPKYGDRKVHHMHMRKKGINTLINIMSRLGQDDPTPSRINHNERLEFLGDAV
  VEFLTSVHLYYLFPSLEEGGLATYRTAIVQNQHLAMLAKKLELDRFMLYAHGPDLCRESDLRHAMANCFEALIGA
  VYLEGSLEEAKQLFGRLLFNDPDLREVWLNYPLHPLQLQEPNTDRQLIETSPVLQKLTEFEEAIGVIFTHVRLLA
  RAFTLRTVGFNHLTLGHNQRMEFLGDSIMQLVATEYLFIHFPDHHEGHLTLLRSSLVNNRTQAKVAEELGMQEYA
  ITNDKTKRPVALRTKTLADLLESFIAALYIDKDLEYVHTFMNVCFFPRLKEFILNQDWNDPKSQLQQCCLTLRTE
  GKEPDIPLYKTLQTVGPSHARTYTVAVYFKGERIGCGKGPSIQQAEMGAAMDALEKYNFPQMAHQKRFIERKYRQ
  ELKEMRWEREHQEREPDETEDIKK

• Structural information:
  • Protein Domains: RNase (876-1056)
    RNase (1107-1233)
    DRBM. (1260-1334)
  • Interpro: IPR014720  IPR011907  IPR000999  IPR036389  
  • Prosite: PS50137 PS00517 PS50142
  • CDD: cd00593
  • PDB: 2KHX 2NA2 5B16
  • PDBsum: 2KHX 2NA2 5B16
  • DIP: 33300
  • STRING: ENSP00000339845
• Other Databases: GeneCards:  DROSHA  Malacards:  DROSHA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001530	lipopolysaccharide binding	IDA	molecular function
GO:0003725	double-stranded RNA binding	IBA	molecular function
GO:0004525	ribonuclease III activity	IDA	molecular function
GO:0004525	ribonuclease III activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0010586	miRNA metabolic process	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0016075	rRNA catabolic process	IEA	biological process
GO:0030422	production of siRNA involved in RNA interference	IBA	biological process
GO:0031047	gene silencing by RNA	TAS	biological process
GO:0031053	primary miRNA processing	IDA	biological process
GO:0031053	primary miRNA processing	IMP	biological process
GO:0031053	primary miRNA processing	IDA	biological process
GO:0031054	pre-miRNA processing	IBA	biological process
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0050829	defense response to Gram-negative bacterium	IDA	biological process
GO:0050830	defense response to Gram-positive bacterium	IDA	biological process
GO:0070877	microprocessor complex	IDA	cellular component
GO:0070878	primary miRNA binding	NAS	molecular function
GO:0090502	RNA phosphodiester bond hydrolysis, endonucleolytic	IEA	biological process
GO:2000628	regulation of miRNA metabolic process	IEA	biological process
GO:0001530	lipopolysaccharide binding	IDA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0003725	double-stranded RNA binding	IBA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0004519	endonuclease activity	IEA	molecular function
GO:0004521	endoribonuclease activity	IEA	molecular function
GO:0004525	ribonuclease III activity	IEA	molecular function
GO:0004525	ribonuclease III activity	IEA	molecular function
GO:0004525	ribonuclease III activity	IDA	molecular function
GO:0004525	ribonuclease III activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0006396	RNA processing	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0010586	miRNA metabolic process	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0016075	rRNA catabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0030422	production of siRNA involved in RNA interference	IBA	biological process
GO:0031047	gene silencing by RNA	IEA	biological process
GO:0031047	gene silencing by RNA	TAS	biological process
GO:0031053	primary miRNA processing	IDA	biological process
GO:0031053	primary miRNA processing	IMP	biological process
GO:0031053	primary miRNA processing	IDA	biological process
GO:0031054	pre-miRNA processing	IEA	biological process
GO:0031054	pre-miRNA processing	IBA	biological process
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0050829	defense response to Gram-negative bacterium	IDA	biological process
GO:0050830	defense response to Gram-positive bacterium	IDA	biological process
GO:0070877	microprocessor complex	IDA	cellular component
GO:0070878	primary miRNA binding	NAS	molecular function
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090501	RNA phosphodiester bond hydrolysis	IEA	biological process
GO:0090502	RNA phosphodiester bond hydrolysis, endonucleolytic	IEA	biological process
GO:2000628	regulation of miRNA metabolic process	IEA	biological process
GO:0001530	lipopolysaccharide binding	IDA	molecular function
GO:0003725	double-stranded RNA binding	IBA	molecular function
GO:0004525	ribonuclease III activity	IDA	molecular function
GO:0004525	ribonuclease III activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0030422	production of siRNA involved in RNA interference	IBA	biological process
GO:0031047	gene silencing by RNA	TAS	biological process
GO:0031053	primary miRNA processing	IDA	biological process
GO:0031053	primary miRNA processing	IMP	biological process
GO:0031053	primary miRNA processing	IDA	biological process
GO:0031054	pre-miRNA processing	IBA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0050829	defense response to Gram-negative bacterium	IDA	biological process
GO:0050830	defense response to Gram-positive bacterium	IDA	biological process
GO:0070877	microprocessor complex	IDA	cellular component
GO:0070878	primary miRNA binding	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05205	Proteoglycans in cancer

Diseases

Associated diseases	References
Cancer (esophageal)	GAD: 19138993
Cancer (Renal cell)	GAD: 19047128
Cancer (head and neck)	GAD: 20819778
Cancer (lung)	GAD: 20721975
Premature ovarian insufficiency (POI)	INFBASE: 23549446
Female infertility	INFBASE: 23549446
Male factor infertility	MIK: 22381205
Azoospermia	MIK: 27264823
Azoospermia	MIK: 27264823
Gonadal sexual differentiation	MIK: 29187591
Male infertility	MIK: 22381205
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
27264823	Azoospermia	DICER rs3742330, DROSHA rs10719		612 (330 patients with primary azoospermia, 282 fertile male controls)	Male infertility	DICER DROSHA
22381205	Idiopathic male infertility,	DICER1 (rs13078, rs1057035 and rs12323635), DROSHA (rs10719, rs2291109, rs17409893 and rs642321)		1086 ( 667 infertile patients, 419 controls)	Male infertility
29187591	Gonadal sexual differentiation, Male infertility				Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)