CIA30_MOUSE
ID CIA30_MOUSE Reviewed; 328 AA.
AC Q9CWX2; Q8VEI8;
DT 20-JUN-2002, integrated into UniProtKB/Swiss-Prot.
DT 20-JUN-2002, sequence version 2.
DT 25-MAY-2022, entry version 119.
DE RecName: Full=Complex I intermediate-associated protein 30, mitochondrial {ECO:0000305};
DE AltName: Full=NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 1;
DE Flags: Precursor;
GN Name=Ndufaf1 {ECO:0000312|MGI:MGI:1916952}; Synonyms=Cia30;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=C57BL/6J; TISSUE=Embryonic stem cell;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Mammary gland;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Brown adipose tissue, and Heart;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
CC -!- FUNCTION: As part of the MCIA complex, involved in the assembly of the
CC mitochondrial complex I. {ECO:0000250|UniProtKB:Q9Y375}.
CC -!- SUBUNIT: Part of the mitochondrial complex I assembly/MCIA complex that
CC comprises at least the core subunits TMEM126B, NDUFAF1, ECSIT and ACAD9
CC and complement subunits such as COA1 and TMEM186. Interacts with ECSIT.
CC Interacts with ACAD9. At early stages of complex I assembly, it is
CC found in intermediate subcomplexes that contain different subunits
CC including NDUFB6, NDUFA6, NDUFA9, NDUFS3, NDUFS7, ND1, ND2 and ND3.
CC Interacts with TMEM70 and TMEM242 (By similarity).
CC {ECO:0000250|UniProtKB:Q9Y375}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250|UniProtKB:Q9Y375}.
CC Mitochondrion matrix {ECO:0000250|UniProtKB:Q9Y375}. Note=Periferally
CC associated with the matrix face of the mitochondrial inner membrane.
CC {ECO:0000250|UniProtKB:Q9Y375}.
CC -!- SIMILARITY: Belongs to the CIA30 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB26855.2; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAC34201.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK010328; BAB26855.2; ALT_INIT; mRNA.
DR EMBL; AK050343; BAC34201.1; ALT_INIT; mRNA.
DR EMBL; BC018422; AAH18422.1; -; mRNA.
DR RefSeq; NP_081451.3; NM_027175.3.
DR RefSeq; XP_006500211.1; XM_006500148.1.
DR RefSeq; XP_006500212.1; XM_006500149.3.
DR AlphaFoldDB; Q9CWX2; -.
DR SMR; Q9CWX2; -.
DR BioGRID; 213626; 3.
DR DIP; DIP-59193N; -.
DR IntAct; Q9CWX2; 1.
DR STRING; 10090.ENSMUSP00000028768; -.
DR PhosphoSitePlus; Q9CWX2; -.
DR EPD; Q9CWX2; -.
DR jPOST; Q9CWX2; -.
DR MaxQB; Q9CWX2; -.
DR PaxDb; Q9CWX2; -.
DR PRIDE; Q9CWX2; -.
DR ProteomicsDB; 283621; -.
DR DNASU; 69702; -.
DR GeneID; 69702; -.
DR KEGG; mmu:69702; -.
DR CTD; 51103; -.
DR MGI; MGI:1916952; Ndufaf1.
DR eggNOG; KOG2435; Eukaryota.
DR InParanoid; Q9CWX2; -.
DR OrthoDB; 1563319at2759; -.
DR PhylomeDB; Q9CWX2; -.
DR TreeFam; TF314819; -.
DR Reactome; R-MMU-6799198; Complex I biogenesis.
DR BioGRID-ORCS; 69702; 18 hits in 75 CRISPR screens.
DR PRO; PR:Q9CWX2; -.
DR Proteomes; UP000000589; Unplaced.
DR RNAct; Q9CWX2; protein.
DR GO; GO:0005829; C:cytosol; ISO:MGI.
DR GO; GO:0005759; C:mitochondrial matrix; IEA:UniProtKB-SubCell.
DR GO; GO:0005739; C:mitochondrion; HDA:MGI.
DR GO; GO:0051082; F:unfolded protein binding; IBA:GO_Central.
DR GO; GO:0051131; P:chaperone-mediated protein complex assembly; ISO:MGI.
DR GO; GO:0006120; P:mitochondrial electron transport, NADH to ubiquinone; IBA:GO_Central.
DR GO; GO:0032981; P:mitochondrial respiratory chain complex I assembly; ISS:UniProtKB.
DR GO; GO:0010257; P:NADH dehydrogenase complex assembly; IBA:GO_Central.
DR InterPro; IPR008979; Galactose-bd-like_sf.
DR InterPro; IPR013857; NADH-UbQ_OxRdtase-assoc_prot30.
DR InterPro; IPR039131; NDUFAF1.
DR PANTHER; PTHR13194; PTHR13194; 1.
DR Pfam; PF08547; CIA30; 1.
DR SUPFAM; SSF49785; SSF49785; 1.
PE 1: Evidence at protein level;
KW Chaperone; Mitochondrion; Phosphoprotein; Reference proteome;
KW Transit peptide.
FT TRANSIT 1..24
FT /note="Mitochondrion"
FT /evidence="ECO:0000255"
FT CHAIN 25..328
FT /note="Complex I intermediate-associated protein 30,
FT mitochondrial"
FT /id="PRO_0000005465"
FT REGION 44..80
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 58..73
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 319
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9Y375"
FT CONFLICT 30
FT /note="N -> S (in Ref. 1; BAC34201/BAB26855)"
FT /evidence="ECO:0000305"
FT CONFLICT 134
FT /note="L -> F (in Ref. 1; BAB26855)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 328 AA; 37810 MW; 002B45C840BA6077 CRC64;
MSSIHKLLTG IYIHKNFLRP RAALPPFVGN HCVDYSSSSL QKKVTSVDRA SQQGKTEEGL
QGHDHKEVAL DAPSPDRTPE VSFDKAIRDE AIEHFRRLKD EIVAHLRGPD GRPLQEVIME
QARVVWQFRE KEDLDKWIVT SDKTIGGRSE IFLKMSKNNR SALLYGTLSS EPPQDGDSRQ
SGYCAMISRI PRGAFERKLS YDWSQFNTLY LRVRGDGRPW MVNIRQDTEF IQRKNQMYSY
FMFTRGGPYW QEVKIPFSKF FFSNQGRVRD VQGPLVLDKI SSIGFTLSDK VDGPFFLEID
FIGVFTDPAH TEEFAYENSP VLNPRLFR
