Strong candidates:
(28) ABCC1, ATP-binding cassette subfamily C member 7
https://www.ncbi.nlm.nih.gov/gene/4363
(30) NDUFB9, NADH: Ubiquinon oxidoreductgase subunit B9 (Complex I)
(36) GHITM, Growth Hormon inducible TM-protein, MICS1
Secundary candidates
(48) ALG8, alpha-1,3- glucosyltransferase
https://www.ncbi.nlm.nih.gov/gene/79053
(49) BCS1L, BSC1 homolog, Ubiquinol-cytochrome c reductase complex chaperone https://www.ncbi.nlm.nih.gov/gene/617
No strong evidence for positive selection
(67) UBXN8, UBX domain protein 8
(73) NDUFAF1, NADH: Ubiquinone oxidoreductase complex assembly factor 1 (Complex I)
(104) NDFIP2, NDD4 family interacting protein 2
(106) ECSIT, ECSIT signaling integrator
(115) ERMP1, Endoplasmic reticulum metallopeptidase 2
(122) WFS1, Wolframin ER transmembrane glycoprotein
(123) TAPT1, Transmembrane anterior posterior transformation 1
(126) FAR2, Fatty acyl CoA- reductase 2
(128) NLRX1, NLR-family membrer X1
(130) PIGO, Phosphatidyl Inositol Glycan anchor biosynthesis Class O
(146) SCAP, SREB F Chaperone
(155) RETREG3, Reticulophagy regulator family member 3
(165) F2RL1, F2R like trypsin receptor 1
(182) TMEM39B, TM-protein 39B
(185) GPAA1, GPI-anchor attqchement 1
(218) SLC30A6, Solute Carrier family 30 member 6 (ZNT6)
(334) DPY19L1 , dpy-19 like C- mannosyl transferase 1
(335) TMEM97, Transmembraani proteiini- 97
(336) ACAD9, Acyl-CoA dehydrogenase family member 9
(337) TMED5 , TM p24 traficing protein 5
(338) PIG5, Phosphatidyl Inositol Glycan anchor biosynthesis class 5
( Numerot ovat listajärjestyksestä, jossa otsikko ja väliotsikot vievät 2 riviä kukin).
(Suom. Lisätietoja esimerkkinä eri geeneistä:
- Ihmisen proteiini NDUFB9 siirtelee elektroneja (e-) koentsyymiQ:lle mitokondriassa NADH dehydrogenaatiosta.
- Se on alayksikkö mitokondrian oksidatiivisen fosforylaation I- kompleksissa (Complex I). ( NAD on B -vitamiinilajeista nikotiinihappo, nikotinamidi, niasiini, muodostuva koentsyymi. Normaalisti ihmisessa syntetisoituu Q10 koentsyymimolekyyliä, mutta sitä käytetään myös ravintolisänä kuten B-vitamiinejakin).
- Official Symbol NDUFB9 (8q24.13)
- Name NADH:ubiquinone oxidoreductase subunit B9
- Also known as B22; LYRM3; CI-B22; UQOR22; MC1DN24
- Summary. The protein encoded by this gene is a subunit of the mitochondrial oxidative phosphorylation complex I (nicotinamide adenine dinucleotide: ubiquinone oxidoreductase). Complex I is localized to the inner mitochondrial membrane and functions to dehydrogenate nicotinamide adenine dinucleotide and to shuttle electrons to coenzyme Q. Complex I deficiency is the most common defect found in oxidative phosphorylation disorders and results in a range of conditions, including lethal neonatal disease, hypertrophic cardiomyopathy, liver disease, and adult-onset neurodegenerative disorders. Pseudogenes of this gene are found on chromosomes five, seven and eight. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
- Expressio Ubiquitous expression in heart (RPKM 119.4), kidney (RPKM 111.6) and 25 other tissues
- (suom. Ihmisen proteiini NDUFAF1 (15q15.1) kuuluu mitokondrian hengitysketjun I-kompleksiin, joka katalysoi elektroninsiirtoa NADH:sta ubikinonille (coentsyymiQ) hengitysketjun ensimmäisssä vaiheessa ja tästä seuraa protonien (H+) translokaatio mitokondrian sisemmän kalvon läpi. )
Official Symbol NDUFAF1
Official Full Name NADH:ubiquinone oxidoreductase complex assembly factor 1.
Also known as CGI65; CIA30; CGI-65; MC1DN11.
Summary This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Dec 2011] Expression Ubiquitous expression in adrenal (RPKM 10.5), testis (RPKM 9.8) and 25 other tissues.
https://www.ncbi.nlm.nih.gov/pubmed/17557076/
EMBO J. 2007 Jul 11;26(13):3227-37. Epub 2007 Jun 7.
Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease. Dunning CJ1, McKenzie M et al.
In
humans, complex I of the respiratory chain is composed of seven
mitochondrial DNA (mtDNA)-encoded and 38 nuclear-encoded subunits that
assemble together in a process that is poorly defined. To date, only two
complex I assembly factors have been identified and how each functions
is not clear. Here, we show that the human complex I assembly factor
CIA30 (complex I intermediate associated protein) associates with newly
translated mtDNA-encoded complex I subunits at early stages in their
assembly before dissociating at a later stage. Using antibodies we
identified a CIA30-deficient patient who presented with
cardioencephalomyopathy and reduced levels and activity of complex I.
Genetic analysis revealed the patient had mutations in both alleles of
the NDUFAF1 gene that encodes CIA30. Complex I assembly in patient cells
was defective at early stages with subunits being degraded.
Complementing the deficiency in patient fibroblasts with normal CIA30
using a novel lentiviral system restored steady-state complex I levels.
Our results indicate that CIA30 is a crucial component in the early
assembly of complex I and mutations in its gene can cause mitochondrial
disease.
- (suom. Ihmisen proteiini NDFIP2 , NEDD4-perheen kanssa interaktion tekevä proteiini
https://www.ncbi.nlm.nih.gov/gene/54602
https://www.genecards.org/cgi-bin/carddisp.pl?gene=NDFIP2
Aliases for NDFIP2 Gene
Nedd4 Family Interacting Protein 2
2
3
5
Putative MAPK-Activating Protein PM04/PM05/PM06/PM07 3 4
Putative NF-Kappa-B-Activating Protein 413 3 4
NEDD4 Family-Interacting Protein 2 3 4
NEDD4 WW Domain-Binding Protein 5A 3 4
N4WBP5A 3 4
MAPK-Activating Protein PM04 PM05 PM06 PM07 3
NF-Kappa-B-Activating Protein 413 3
KIAA1165 4
Putative MAPK-Activating Protein PM04/PM05/PM06/PM07 3 4
Putative NF-Kappa-B-Activating Protein 413 3 4
NEDD4 Family-Interacting Protein 2 3 4
NEDD4 WW Domain-Binding Protein 5A 3 4
N4WBP5A 3 4
MAPK-Activating Protein PM04 PM05 PM06 PM07 3
NF-Kappa-B-Activating Protein 413 3
KIAA1165 4
(Suom. Kommenttejani: MIKÄ MERKITYS TÄLLÄ NDFIP- PERHEEN PROTEIINILLA OLISI?
NDFIP perhe säätelee NEDD4-perheen HECT- domeenin omaavia E3 ubikitiiniligaaseja, joten ne kuuluvat johonkin tiettyyn signaalijärjestelmään eräinä avainmolekyyleinä.)
https://www.ncbi.nlm.nih.gov/pubmed/19343052/
EMBO Rep. 2009 May;10(5):501-7. doi: 10.1038/embor.2009.30. Epub 2009 Apr 3.
Control of the activity of WW-HECT domain E3 ubiquitin ligases by NDFIP proteins.
HECT
domain E3 ubiquitin ligases of the NEDD4 family control many cellular
processes, but their regulation is poorly understood. They contain
multiple WW domains that recognize PY elements. Here, we show that the
small PY-containing membrane proteins, NDFIP1 and NDFIP2 (NEDD4
family-interacting proteins), activate the catalytic activity of ITCH
and of several other HECT ligases by binding to them. This releases them
from an autoinhibitory intramolecular interaction, which seems to be
characteristic of these enzymes. Activation of ITCH requires multiple
PY-WW interactions, but little else. Binding of NDFIP proteins is highly
dynamic, potentially allowing activated ligases to access other
PY-containing substrates. In agreement with this, NDFIP proteins promote
ubiquitination in vivo both of Jun proteins, which have a PY motif, and
of endophilin, which does not DOI: 10.1038/embor.2009.30
- (Suom. Ihmisen proteiini GHITM (MICS1) on mitokondriakristassa ja linkkiytyy (cross-link) cytokromi- c sijaintikohdan lähelle kompleksien III ja IV väliin. Se avustaa sytokromi c:n kiinteää liittymistä mitokondrian sisäkalvoon, mutta myös apoptoottiseen cyt c irtoamiseen. )
Also known as DERP2; MICS1; My021; PTD010; TMBIM5; HSPC282 Expression Ubiquitous expression in heart (RPKM 139.5), kidney (RPKM 133.1) and 25 other tissues
Mol Biol Cell. 2008 Jun;19(6):2597-608. doi: 10.1091/mbc.E07-12-1205. Epub 2008 Apr 16.
Identification
of a novel protein MICS1 that is involved in maintenance of
mitochondrial morphology and apoptotic release of cytochrome c. Oka T1, Sayano T et al. Abstract
Mitochondrial
morphology dynamically changes in a balance of membrane fusion and
fission in response to the environment, cell cycle, and apoptotic
stimuli. Here, we report that a novel mitochondrial protein, MICS1, is
involved in mitochondrial morphology in specific cristae structures and
the apoptotic release of cytochrome c from the mitochondria. MICS1 is an
inner membrane protein with a cleavable presequence and multiple
transmembrane segments and belongs to the Bi-1 super family. MICS1
down-regulation causes mitochondrial fragmentation and cristae
disorganization and stimulates the release of proapoptotic proteins.
Expression of the anti-apoptotic protein Bcl-XL does not prevent
morphological changes of mitochondria caused by MICS1 down-regulation,
indicating that MICS1 plays a role in maintaining mitochondrial
morphology separately from the function in apoptotic pathways. MICS1
overproduction induces mitochondrial aggregation and partially inhibits
cytochrome c release during apoptosis, regardless of the occurrence of
Bax targeting. MICS1 is cross-linked to cytochrome c without disrupting
membrane integrity. Thus, MICS1 facilitates the tight association of
cytochrome c with the inner membrane. Furthermore, under low-serum
condition, the delay in apoptotic release of cytochrome c correlates
with MICS1 up-regulation without significant changes in mitochondrial
morphology, suggesting that MICS1 individually functions in
mitochondrial morphology and cytochrome c release.
CHCHD2 gene 7 https://www.ncbi.nlm.nih.gov/gene/51142 Preferred Names coiled-coil-helix-coiled-coil-helix domain-containing protein 2
Names 16.7kD protein
HCV NS2 trans-regulated protein
MIX17 homolog B
aging-associated gene 10 protein
coiled-coil-helix-coiled-coil-helix domain-containing protein 2, mitochondrial
mitochondria nuclear retrograde regulator 1
mitochondrial nuclear retrograde regulator 1
CHCH motif
CHCH domain
we have identified a
conserved motif in the LOC118487 protein that we have called the CHCH
motif. Alignment of this protein with related members showed the
presence of three subgroups of proteins, which are called the S (Small),
N (N-terminal extended) and C (C-terminal extended) subgroups. All
three sub-groups of proteins have in common that they contain a
predicted conserved [coiled coil 1]-[helix 1]-[coiled coil 2]-[helix 2]
domain (CHCH domain). Within each helix of the CHCH domain, there are
two cysteines present in a C-X9-C motif. The N-group contains an
additional double helix domain, and each helix contains the C-X9-C
motif. This family contains a number of characterized proteins: Cox19
protein - a nuclear gene of Saccharomyces cerevisiae, codes for an
11-kDa protein (Cox19p) required for expression of cytochrome oxidase.
Because cox19 mutants are able to synthesize the mitochondrial and
nuclear gene products of cytochrome oxidase, Cox19p probably functions
post-translationally during assembly of the enzyme. Cox19p is present in
the cytoplasm and mitochondria, where it exists as a soluble
intermembrane protein. This dual location is similar to what was
previously reported for Cox17p, a low molecular weight copper protein
thought to be required for maturation of the CuA centre of subunit 2 of
cytochrome oxidase. Cox19p have four conserved potential metal ligands,
these are three cysteines and one histidine. Mrp10 - belongs to the
class of yeast mitochondrial ribosomal proteins that are essential for
translation. Eukaryotic NADH-ubiquinone oxidoreductase 19 kDa (NDUFA8)
subunit. The CHCH domain was previously called DUF657.
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