Gene id |
10989 |
Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
Gene Symbol |
IMMT Gene UCSC Ensembl |
Aliases |
HMP, MICOS60, MINOS2, Mic60, P87, P87/89, P89, PIG4, PIG52 |
Gene name |
inner membrane mitochondrial protein |
Alternate names |
MICOS complex subunit MIC60, cell proliferation-inducing gene 4/52 protein, cell proliferation-inducing protein 52, heart muscle protein, mitochondrial contact site and cristae organizing system subunit 60, mitochondrial inner membrane organizing system 2, mito, |
Gene location |
2 (86195769: 86143931) Exons: 13 NC_000002.12
|
OMIM |
600378 |
Protein Summary
|
Protein general information
| Q16891
Name: MICOS complex subunit MIC60 (Cell proliferation inducing gene 4/52 protein) (Mitochondrial inner membrane protein) (Mitofilin) (p87/89)
Length: 758 Mass: 83678
|
Sequence |
MLRACQLSGVTAAAQSCLCGKFVLRPLRPCRRYSTSGSSGLTTGKIAGAGLLFVGGGIGGTILYAKWDSHFRESV EKTIPYSDKLFEMVLGPAAYNVPLPKKSIQSGPLKISSVSEVMKESKQPASQLQKQKGDTPASATAPTEAAQIIS AAGDTLSVPAPAVQPEESLKTDHPEIGEGKPTPALSEEASSSSIRERPPEEVAARLAQQEKQEQVKIESLAKSLE DALRQTASVTLQAIAAQNAAVQAVNAHSNILKAAMDNSEIAGEKKSAQWRTVEGALKERRKAVDEAADALLKAKE ELEKMKSVIENAKKKEVAGAKPHITAAEGKLHNMIVDLDNVVKKVQAAQSEAKVVSQYHELVVQARDDFKRELDS ITPEVLPGWKGMSVSDLADKLSTDDLNSLIAHAHRRIDQLNRELAEQKATEKQHITLALEKQKLEEKRAFDSAVA KALEHHRSEIQAEQDRKIEEVRDAMENEMRTQLRRQAAAHTDHLRDVLRVQEQELKSEFEQNLSEKLSEQELQFR RLSQEQVDNFTLDINTAYARLRGIEQAVQSHAVAEEEARKAHQLWLSVEALKYSMKTSSAETPTIPLGSAVEAIK ANCSDNEFTQALTAAIPPESLTRGVYSEETLRARFYAVQKLARRVAMIDETRNSLYQYFLSYLQSLLLFPPQQLK PPPELCPEDINTFKLLSYASYCIEHGDLELAAKFVNQLKGESRRVAQDWLKEARMTLETKQIVEILTAYASAVGI GTTQVQPE
|
Structural information |
|
Other Databases |
GeneCards: IMMT  Malacards: IMMT |
|
GO accession | Term name | Evidence code | Go category |
---|
GO:0061617 |
MICOS complex
|
IBA |
cellular component |
GO:0070584 |
mitochondrion morphogenes is
|
IBA |
biological process |
GO:0042407 |
cristae formation
|
IBA |
biological process |
GO:0061617 |
MICOS complex
|
IDA |
cellular component |
GO:0061617 |
MICOS complex
|
IDA |
cellular component |
GO:0005739 |
mitochondrion
|
IDA |
cellular component |
GO:0005743 |
mitochondrial inner membr ane
|
IDA |
cellular component |
GO:0005739 |
mitochondrion
|
IDA |
cellular component |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0042407 |
cristae formation
|
IMP |
biological process |
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:0016021 |
integral component of mem brane
|
IEA |
cellular component |
GO:0016020 |
membrane
|
IEA |
cellular component |
GO:0005743 |
mitochondrial inner membr ane
|
IEA |
cellular component |
GO:0005739 |
mitochondrion
|
IEA |
cellular component |
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:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0051560 |
mitochondrial calcium ion homeostasis
|
IEA |
biological process |
GO:0005758 |
mitochondrial intermembra ne space
|
IEA |
cellular component |
GO:0005739 |
mitochondrion
|
IEA |
cellular component |
GO:0005743 |
mitochondrial inner membr ane
|
IEA |
cellular component |
GO:0005739 |
mitochondrion
|
IEA |
cellular component |
GO:0005739 |
mitochondrion
|
IDA |
cellular component |
GO:0005743 |
mitochondrial inner membr ane
|
IDA |
cellular component |
GO:0007007 |
inner mitochondrial membr ane organization
|
IC |
biological process |
GO:0005739 |
mitochondrion
|
HDA |
cellular component |
GO:0003723 |
RNA binding
|
HDA |
molecular function |
GO:0016020 |
membrane
|
HDA |
cellular component |
GO:0061617 |
MICOS complex
|
HDA |
cellular component |
GO:0140275 |
MIB complex
|
HDA |
cellular component |
GO:0001401 |
SAM complex
|
HDA |
cellular component |
|
|
Associated diseases |
References |
Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
Cryptorchidism | MIK: 28606200 |
Teratozoospermia | MIK: 17327269 |
|
|
PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
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 |
|