MIGA1_HUMAN
ID MIGA1_HUMAN Reviewed; 632 AA.
AC Q8NAN2; Q6MZG0;
DT 01-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=Mitoguardin 1 {ECO:0000303|PubMed:26711011};
DE AltName: Full=Protein FAM73A {ECO:0000305};
GN Name=MIGA1 {ECO:0000303|PubMed:26711011, ECO:0000312|HGNC:HGNC:24741};
GN Synonyms=FAM73A {ECO:0000312|HGNC:HGNC:24741};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Placenta;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 164-632 (ISOFORM 2).
RC TISSUE=Salivary gland, and Uterine endothelium;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
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 [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
RN [5]
RP FUNCTION, SUBCELLULAR LOCATION, SUBUNIT, AND INTERACTION WITH MIGA2 AND
RP PLD6.
RX PubMed=26711011; DOI=10.1016/j.molcel.2015.11.017;
RA Zhang Y., Liu X., Bai J., Tian X., Zhao X., Liu W., Duan X., Shang W.,
RA Fan H.Y., Tong C.;
RT "Mitoguardin regulates mitochondrial fusion through MitoPLD and is required
RT for neuronal homeostasis.";
RL Mol. Cell 61:111-124(2016).
CC -!- FUNCTION: Regulator of mitochondrial fusion: acts by forming homo- and
CC heterodimers at the mitochondrial outer membrane and facilitating the
CC formation of PLD6/MitoPLD dimers. May act by regulating phospholipid
CC metabolism via PLD6/MitoPLD. {ECO:0000269|PubMed:26711011}.
CC -!- SUBUNIT: Homodimer and heterodimer; forms heterodimers with MIGA2
CC (PubMed:26711011). Interacts with PLD6/MitoPLD (PubMed:26711011).
CC {ECO:0000269|PubMed:26711011}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion outer membrane
CC {ECO:0000269|PubMed:26711011}; Single-pass membrane protein
CC {ECO:0000255}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8NAN2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NAN2-2; Sequence=VSP_024878, VSP_024879;
CC -!- SIMILARITY: Belongs to the mitoguardin family. {ECO:0000305}.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-33 is the initiator.
CC {ECO:0000305}.
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DR EMBL; AK092412; BAC03880.1; -; mRNA.
DR EMBL; BX537792; CAD97844.1; -; mRNA.
DR EMBL; BX641170; CAE46075.1; -; mRNA.
DR EMBL; BC130387; AAI30388.1; -; mRNA.
DR CCDS; CCDS681.1; -. [Q8NAN2-1]
DR RefSeq; NP_001257313.1; NM_001270384.1.
DR RefSeq; NP_940951.1; NM_198549.3. [Q8NAN2-1]
DR AlphaFoldDB; Q8NAN2; -.
DR SMR; Q8NAN2; -.
DR BioGRID; 131945; 48.
DR IntAct; Q8NAN2; 15.
DR MINT; Q8NAN2; -.
DR STRING; 9606.ENSP00000393675; -.
DR TCDB; 8.A.167.1.3; the mitoguardin (miga) family.
DR iPTMnet; Q8NAN2; -.
DR PhosphoSitePlus; Q8NAN2; -.
DR BioMuta; MIGA1; -.
DR DMDM; 74729966; -.
DR EPD; Q8NAN2; -.
DR jPOST; Q8NAN2; -.
DR MassIVE; Q8NAN2; -.
DR MaxQB; Q8NAN2; -.
DR PaxDb; Q8NAN2; -.
DR PeptideAtlas; Q8NAN2; -.
DR PRIDE; Q8NAN2; -.
DR ProteomicsDB; 72682; -. [Q8NAN2-1]
DR ProteomicsDB; 72683; -. [Q8NAN2-2]
DR Antibodypedia; 2672; 30 antibodies from 13 providers.
DR DNASU; 374986; -.
DR Ensembl; ENST00000370791.8; ENSP00000359827.3; ENSG00000180488.16. [Q8NAN2-1]
DR Ensembl; ENST00000643143.1; ENSP00000495281.1; ENSG00000180488.16. [Q8NAN2-1]
DR GeneID; 374986; -.
DR KEGG; hsa:374986; -.
DR MANE-Select; ENST00000370791.8; ENSP00000359827.3; NM_198549.4; NP_940951.1.
DR UCSC; uc001dhx.5; human. [Q8NAN2-1]
DR CTD; 374986; -.
DR DisGeNET; 374986; -.
DR GeneCards; MIGA1; -.
DR HGNC; HGNC:24741; MIGA1.
DR HPA; ENSG00000180488; Low tissue specificity.
DR MIM; 616773; gene.
DR neXtProt; NX_Q8NAN2; -.
DR OpenTargets; ENSG00000180488; -.
DR PharmGKB; PA142671836; -.
DR VEuPathDB; HostDB:ENSG00000180488; -.
DR eggNOG; KOG3831; Eukaryota.
DR GeneTree; ENSGT00390000008565; -.
DR InParanoid; Q8NAN2; -.
DR OrthoDB; 341855at2759; -.
DR PhylomeDB; Q8NAN2; -.
DR TreeFam; TF313896; -.
DR PathwayCommons; Q8NAN2; -.
DR Reactome; R-HSA-1483166; Synthesis of PA.
DR SignaLink; Q8NAN2; -.
DR BioGRID-ORCS; 374986; 10 hits in 1079 CRISPR screens.
DR ChiTaRS; MIGA1; human.
DR GenomeRNAi; 374986; -.
DR Pharos; Q8NAN2; Tbio.
DR PRO; PR:Q8NAN2; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q8NAN2; protein.
DR Bgee; ENSG00000180488; Expressed in oviduct epithelium and 191 other tissues.
DR ExpressionAtlas; Q8NAN2; baseline and differential.
DR Genevisible; Q8NAN2; HS.
DR GO; GO:0005887; C:integral component of plasma membrane; IDA:UniProtKB.
DR GO; GO:0005741; C:mitochondrial outer membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005739; C:mitochondrion; IDA:HPA.
DR GO; GO:0046982; F:protein heterodimerization activity; IDA:UniProtKB.
DR GO; GO:0042803; F:protein homodimerization activity; IDA:UniProtKB.
DR GO; GO:0008053; P:mitochondrial fusion; IDA:UniProtKB.
DR InterPro; IPR019392; Miga.
DR PANTHER; PTHR21508; PTHR21508; 1.
DR Pfam; PF10265; Miga; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Membrane; Mitochondrion;
KW Mitochondrion outer membrane; Phosphoprotein; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..632
FT /note="Mitoguardin 1"
FT /id="PRO_0000285646"
FT TRANSMEM 70..90
FT /note="Helical"
FT /evidence="ECO:0000255"
FT MOD_RES 289
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q4QQM5"
FT MOD_RES 293
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q4QQM5"
FT VAR_SEQ 373..384
FT /note="TEMLECLGDSDF -> YHFSFVYVYEGY (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_024878"
FT VAR_SEQ 385..632
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_024879"
SQ SEQUENCE 632 AA; 71006 MW; EB717ACABAF8DD83 CRC64;
MSDCCSAPGI SWEAGVGRPA VPGLELQIRR GAMSEETVSE SQFSLKTAAL RVFDLPLTWY
YSLSQIKFSP VAKKLFVVTA VSAISVIFLA HHFKRKRGKK KGKILPWEPE HLILEYTKRA
ASDKGSSCSS SRQNLTLSLS STKDKGSQVC NYANGGLFSK YSGSAQSLAS VQSVNSCHSC
ACGNSNSWDK ADEDDIKLVN IPVTTPENLY LMGMELFEEA LRRWEQALTF RNRQAEDEAC
GSIKLGAGDA IAEENVDDII STEFIHKLEA LLQRAYRLQE EFEATLGASD PNSLADDIDK
DTDITMKGNV EDFGLRDTLS IASTDSFASA AELAEHREVR HTYSLESLCH CPFYEEAMHL
VEEGKIYSRV LRTEMLECLG DSDFLAKLHC IRQAFQVILS ESANRIFLAE SGRKILSALI
VKARKNPKKF EDVFDEMIYF LEQTDHWGST EMELAARGVK NLNFYDVVLD FILMDSFEDL
ENPPTSIQNV VNNRWLNSSF KETAVASSCW SVLKQKRQQM KIPDGFFAHF YAICEHISPV
LAWGFLGPRN SLYDLCCFFK NQVLLFLKDI FDFEKVRYSS TETLAEDLMQ LLIRRTELLM
AYLEADALRH TSSCLSSHGH VMSTGLLEAK VQ
