|
Gene id |
28977 |
| Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
MRPL42 Gene UCSC Ensembl |
|
Aliases |
HSPC204, L31MT, L42MT, MRP-L31, MRP-L42, MRP-S32, MRPL31, MRPS32, PTD007, RPML31, S32MT |
|
Gene name |
mitochondrial ribosomal protein L42 |
|
Alternate names |
39S ribosomal protein L42, mitochondrial, 28S ribosomal protein S32, mitochondrial, 39S ribosomal protein L31, mitochondrial, mitochondrial large ribosomal subunit protein mL42, |
|
Gene location |
12q22 (93467513: 93516213) Exons: 7 NC_000012.12
|
|
Gene summary(Entrez) |
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% prot
|
|
OMIM |
611847 |
Protein Summary
|
| Protein general information
| Q9Y6G3
Name: 39S ribosomal protein L42, mitochondrial (L42mt) (MRP L42) (39S ribosomal protein L31, mitochondrial) (L31mt) (MRP L31) (Mitochondrial large ribosomal subunit protein mL42)
Length: 142 Mass: 16661
|
| Sequence |
MAVAAVKWVMSKRTILKHLFPVQNGALYCVCHKSTYSPLPDDYNCNVELALTSDGRTIVCYHPSVDIPYEHTKPI
PRPDPVHNNEETHDQVLKTRLEEKVEHLEEGPMIEQLSKMFFTTKHRWYPHGRYHRCRKNLNPPKDR
|
| Structural information |
|
| Other Databases |
GeneCards: MRPL42 Malacards: MRPL42 |
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Associated diseases |
References |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Cryptorchidism | MIK: 28606200 |
| Spermatogenic defects | MIK: 31037746 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
| 31037746 |
Spermatoge
nic defect
s
|
|
|
16 (1 control,
15 cases)
|
Male infertility |
GSE6023 analyzed using GEO2R
|
Show abstract |
|