FertilityOnline | Spermatogenes

Detail Information of SG007016

General information

SG ID

SG007016

Gene Name

RPS12

Gene Synonyms/Alias

S12

Organism

Homo sapiens

NCBI Taxonomy ID

9606

Ensembl Gene ID

ENSG00000112306

Ensembl Protein ID

ENSP00000230050

Description

ribosomal protein S12 [Homo sapiens (human)]

Orthology

Species	Uniprot	Gene stable ID	Gene Name
Rattus norvegicus	D3ZV36	RGD:1561102	RGD1561102
Rattus norvegicus	D4AAJ3	RGD:1562265	RGD1562265
Rattus norvegicus	D4A9C8	Ensembl:ENSRNOG00000042277	-

More Orthology >>

Status

Uncertain

Functional information

Function in Stage

Function in Cell Type

The information of related literature

Figures for illustrating the function of this protein/gene

Functional description

Protein complex

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Complex name	Subunits(UniProt IDs)	Functional comment
40S ribosomal subunit, cytoplasmic	P62861 P46783 P62280 P25398 P62277 P62263 P62841 P62244 P62249 P08708 P62269 P39019 P15880 P60866 P63220 P62266 P62847 P62851 P62854 P42677 P62979 P62857 P62273 P23396 P61247 P62701 P46782 P62753 P62081 P62241 P46781 P08865 (P22090 Q8TD47)
Ribosome, cytoplasmic	P62861 P27635 P62906 P62913 P30050 P26373 P40429 P50914 P61313 P18621 Q07020 Q02543 P84098 P46778 P35268 P62829 P62750 P83731 P61254 P61353 P46776 P46779 P47914 P39023 P62888 P62899 P62910 P49207 P42766 P18077 Q9Y3U8 P83881 P61927 P61513 P63173 P62891 P36578 P62945 P46777 Q02878 P18124 P62424 P62917 P32969 P05388 P05386 P05387 P46783 P62280 P25398 P62277 P62263 P62841 P62244 P62249 P08708 P62269 P39019 P15880 P60866 P63220 P62266 P62847 P62851 P62854 P42677 P62979 P62857 P62273 P23396 P61247 P62701 P46782 P62753 P62081 P62241 P46781 P08865 P62987 (P22090 Q8TD47)
40S ribosomal subunit, cytoplasmic	P62861 P46783 P62280 P25398 P62277 P62263 P62841 P62244 P62249 P08708 P62269 P39019 P15880 P60866 P63220 P62266 P62847 P62851 P62854 P62979 P62857 P62273 P23396 P61247 P62701 P46782 P62753 P62081 P62241 P46781 P08865
Nop56p-associated pre-rRNA complex	P62736 P63267 Q8TDN6 Q9NR30 Q08211 Q99848 P68104 P13639 P22087 Q9BVP2 Q92522 P16402 Q99879 P09651 P52272 Q00839 Q9NZI8 Q12905 Q12906 Q9Y383 Q9NX58 Q9BQG0 P55209 P19338 P55769 Q9Y2X3 O00567 Q14978 P06748 Q13610 Q9NW13 P27635 P62906 P62913 P30050 P26373 P40429 P50914 P61313 P18621 Q07020 Q02543 P84098 P46778 P35268 P62829 P62750 P83731 P61254 P61353 P46776 P46779 P47914 P39023 P62888 P62899 P62910 P42766 P18077 Q9Y3U8 P83881 P61513 P62891 P36578 P46777 Q02878 P18124 P62424 P62917 P32969 P05388 P05386 P05387 P62280 P25398 P62277 P62263 P62841 P62244 P62249 P08708 P62269 P15880 P62266 P62847 P62273 P61247 P62753 P62081 P62241 P46781 O76021 Q6P3W7 P05141 P37108 Q96SB4 Q13428 P11387 Q71U36 Q9H4B7 P49411 Q01081 P26368 P67809	Identification of pre-rRNA species within hNop56p-associated pre-ribosomal ribonucleoprotein complexes, coupled with the known functions of yeast orthologs of the probable trans-acting factors identified in man, demonstrated that hNop56p functions in the early to middle stages of 60 S subunit synthesis.

Pathway

ReactomeID: R-HSA-975957
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)

Human diseases

OMIM

603660

Spermatogenesis failure

Expression and location

Tissue specificity (in Homo sapiens)	Expressed highest in ovary
Testicular Cell specificity (in Mus musculus)	Expressed highest in sertoli cell
Testicular scRNA-seq (in Homo sapiens)	View detail
Testicular scRNA-seq (in Mus musculus)	View detail
Subcellular location	Cytoplasm.

Mutation

Variants founded in public databases	1000G (Phase 3): 163 ESP6500 (SI-V2): 63 ExAC (r0.3.1): 438 dbSNP(Build 147): 679
Variants founded in in-house datasets	Chinese health control (254): 11 European health control (283): 6 Chinese patients (168):
De novo Mutation Rate	Gene Name: RPS12 DNMR-average: 0.000005358 DNMR-SC: 0.00000574592

Other information

Protein-Protein interaction information

Protein A	Gene name A	Protein B	Gene name B	Evidence
ENSMUSP00000073581	Rps12	ENSMUSP00000073864		experimental
ENSMUSP00000073581	Rps12	ENSMUSP00000073880	Rps7	experimental
ENSMUSP00000073581	Rps12	ENSMUSP00000074160	Snrnp70	experimental

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Protein family and Domain

P25398