ID CQ080_HUMAN Reviewed; 609 AA. AC Q9BSJ5; A8K9X3; Q5JB45; Q6YAU3; Q9H0L9; Q9H5E6; Q9NWN5; DT 17-APR-2007, integrated into UniProtKB/Swiss-Prot. DT 11-JAN-2011, sequence version 2. DT 09-APR-2025, entry version 147. DE RecName: Full=Mitochondrial nucleoid-associated protein 1; DE AltName: Full=Cell migration-inducing gene 3 protein; DE AltName: Full=Human lung cancer oncogene 8 protein; DE Short=HLC-8; DE AltName: Full=Protein C17orf80; GN Name=MTNAP1 {ECO:0000312|HGNC:HGNC:29601}; GN ORFNames=C17orf80, HLC8, MIG3; 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 2), NUCLEOTIDE SEQUENCE RP [LARGE SCALE MRNA] OF 377-609 (ISOFORM 1), AND VARIANTS LEU-356; ASN-395; RP ARG-396; HIS-420 AND THR-522. RA Kim J.W.; RT "Identification of a new human cancer-related gene (HLC-8)."; RL Submitted (OCT-2002) to the EMBL/GenBank/DDBJ databases. RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT ASN-395. RC TISSUE=Testis; RX PubMed=11230166; DOI=10.1101/gr.gr1547r; RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B., RA Klein M., Poustka A.; RT "Towards a catalog of human genes and proteins: sequencing and analysis of RT 500 novel complete protein coding human cDNAs."; RL Genome Res. 11:422-435(2001). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), AND VARIANTS RP ASN-395; HIS-420 AND THR-522. RC TISSUE=Lung, and Trachea; 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 [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=16625196; DOI=10.1038/nature04689; RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.; RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the RT human lineage."; RL Nature 440:1045-1049(2006). RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT ASN-395. RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., RA Hunkapiller M.W., Myers E.W., Venter J.C.; RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases. RN [6] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT ASN-395. RC TISSUE=Kidney; 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 [7] RP SUBCELLULAR LOCATION, AND TOPOLOGY. RX PubMed=37401363; DOI=10.1242/jcs.260822; RA Potter A., Hangas A., Goffart S., Huynen M.A., Cabrera-Orefice A., RA Spelbrink J.N.; RT "Uncharacterized protein C17orf80 - a novel interactor of human RT mitochondrial nucleoids."; RL J. Cell Sci. 136:0-0(2023). RN [8] RP FUNCTION, AND SUBCELLULAR LOCATION. RX PubMed=37676315; DOI=10.1083/jcb.202302037; RA Wu H., Zhang W., Xu F., Peng K., Liu X., Ding W., Ma Q., Cheng H., Wang X.; RT "C17orf80 binds the mitochondrial genome to promote its replication."; RL J. Cell Biol. 222:0-0(2023). CC -!- FUNCTION: Critical regulator of mitochondrial DNA (mtDNA) abundance CC (PubMed:37676315). Binds dsDNA throughout the mitochondrial genome CC without sequence specificity and controls mtDNA copy number by CC promoting its replication (PubMed:37676315). Also plays important roles CC in mitochondrial metabolism and cell proliferation (PubMed:37676315). CC {ECO:0000269|PubMed:37676315}. CC -!- INTERACTION: CC Q9BSJ5; P21333-2: FLNA; NbExp=3; IntAct=EBI-2872520, EBI-9641086; CC Q9BSJ5; Q9HB07: MYG1; NbExp=3; IntAct=EBI-2872520, EBI-709754; CC Q9BSJ5; Q8N2W9: PIAS4; NbExp=3; IntAct=EBI-2872520, EBI-473160; CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane CC {ECO:0000269|PubMed:37401363}; Single-pass type I membrane protein CC {ECO:0000305}. Mitochondrion matrix, mitochondrion nucleoid CC {ECO:0000269|PubMed:37401363, ECO:0000269|PubMed:37676315}. CC Note=Retained in nucleoids under mtDNA replication stress caused by ddC CC and EtBr. {ECO:0000269|PubMed:37401363}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=3; CC Name=1; CC IsoId=Q9BSJ5-1; Sequence=Displayed; CC Name=2; CC IsoId=Q9BSJ5-2; Sequence=VSP_024572; CC Name=3; CC IsoId=Q9BSJ5-3; Sequence=VSP_024573, VSP_024574; CC -!- SEQUENCE CAUTION: CC Sequence=AAP72185.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; CC Sequence=BAA91344.1; Type=Frameshift; Evidence={ECO:0000305}; CC Sequence=BAB15680.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AY163812; AAO25513.1; -; mRNA. DR EMBL; AY239293; AAP72185.1; ALT_INIT; mRNA. DR EMBL; AL136740; CAB66674.1; -; mRNA. DR EMBL; AK000728; BAA91344.1; ALT_FRAME; mRNA. DR EMBL; AK027166; BAB15680.1; ALT_INIT; mRNA. DR EMBL; AK292838; BAF85527.1; -; mRNA. DR EMBL; AC087301; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC097641; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; CH471099; EAW89118.1; -; Genomic_DNA. DR EMBL; BC005005; AAH05005.1; -; mRNA. DR CCDS; CCDS11694.1; -. [Q9BSJ5-1] DR CCDS; CCDS42377.1; -. [Q9BSJ5-2] DR CCDS; CCDS45767.1; -. [Q9BSJ5-3] DR RefSeq; NP_001094091.1; NM_001100621.2. [Q9BSJ5-2] DR RefSeq; NP_001094091.2; NM_001100621.3. [Q9BSJ5-2] DR RefSeq; NP_001094092.2; NM_001100622.4. [Q9BSJ5-3] DR RefSeq; NP_001275699.1; NM_001288770.1. [Q9BSJ5-2] DR RefSeq; NP_001275699.2; NM_001288770.3. [Q9BSJ5-2] DR RefSeq; NP_001338193.2; NM_001351264.2. [Q9BSJ5-1] DR RefSeq; NP_001338194.2; NM_001351265.2. [Q9BSJ5-2] DR RefSeq; NP_001373907.1; NM_001386978.1. [Q9BSJ5-3] DR RefSeq; NP_060411.2; NM_017941.5. [Q9BSJ5-1] DR RefSeq; XP_005257544.1; XM_005257487.3. DR RefSeq; XP_011523263.1; XM_011524961.2. [Q9BSJ5-1] DR RefSeq; XP_011523264.1; XM_011524962.3. [Q9BSJ5-1] DR RefSeq; XP_016880295.1; XM_017024806.1. DR RefSeq; XP_047292293.1; XM_047436337.1. [Q9BSJ5-1] DR AlphaFoldDB; Q9BSJ5; -. DR BioGRID; 120358; 266. DR IntAct; Q9BSJ5; 58. DR MINT; Q9BSJ5; -. DR STRING; 9606.ENSP00000351937; -. DR iPTMnet; Q9BSJ5; -. DR MetOSite; Q9BSJ5; -. DR PhosphoSitePlus; Q9BSJ5; -. DR SwissPalm; Q9BSJ5; -. DR BioMuta; C17orf80; -. DR DMDM; 317373351; -. DR jPOST; Q9BSJ5; -. DR MassIVE; Q9BSJ5; -. DR PaxDb; 9606-ENSP00000351937; -. DR PeptideAtlas; Q9BSJ5; -. DR ProteomicsDB; 78901; -. [Q9BSJ5-1] DR ProteomicsDB; 78902; -. [Q9BSJ5-2] DR ProteomicsDB; 78903; -. [Q9BSJ5-3] DR Pumba; Q9BSJ5; -. DR Antibodypedia; 2478; 111 antibodies from 18 providers. DR DNASU; 55028; -. DR Ensembl; ENST00000268942.12; ENSP00000268942.8; ENSG00000141219.16. [Q9BSJ5-2] DR Ensembl; ENST00000359042.6; ENSP00000351937.2; ENSG00000141219.16. [Q9BSJ5-1] DR Ensembl; ENST00000426147.6; ENSP00000396970.2; ENSG00000141219.16. [Q9BSJ5-3] DR Ensembl; ENST00000535032.7; ENSP00000440551.2; ENSG00000141219.16. [Q9BSJ5-1] DR Ensembl; ENST00000577615.5; ENSP00000464132.1; ENSG00000141219.16. [Q9BSJ5-2] DR GeneID; 55028; -. DR KEGG; hsa:55028; -. DR MANE-Select; ENST00000535032.7; ENSP00000440551.2; NM_001351264.2; NP_001338193.2. DR UCSC; uc002jjk.3; human. [Q9BSJ5-1] DR AGR; HGNC:29601; -. DR CTD; 55028; -. DR DisGeNET; 55028; -. DR GeneCards; MTNAP1; -. DR HGNC; HGNC:29601; MTNAP1. DR HPA; ENSG00000141219; Low tissue specificity. DR MIM; 620717; gene. DR neXtProt; NX_Q9BSJ5; -. DR OpenTargets; ENSG00000141219; -. DR PharmGKB; PA143485404; -. DR VEuPathDB; HostDB:ENSG00000141219; -. DR eggNOG; KOG4092; Eukaryota. DR GeneTree; ENSGT00510000049019; -. DR HOGENOM; CLU_037702_0_0_1; -. DR InParanoid; Q9BSJ5; -. DR OMA; VHTGWIR; -. DR OrthoDB; 8921675at2759; -. DR PhylomeDB; Q9BSJ5; -. DR TreeFam; TF324369; -. DR PathwayCommons; Q9BSJ5; -. DR SignaLink; Q9BSJ5; -. DR BioGRID-ORCS; 55028; 20 hits in 1140 CRISPR screens. DR ChiTaRS; C17orf80; human. DR GenomeRNAi; 55028; -. DR Pharos; Q9BSJ5; Tbio. DR PRO; PR:Q9BSJ5; -. DR Proteomes; UP000005640; Chromosome 17. DR RNAct; Q9BSJ5; protein. DR Bgee; ENSG00000141219; Expressed in sperm and 173 other cell types or tissues. DR ExpressionAtlas; Q9BSJ5; baseline and differential. DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB. DR GO; GO:0005743; C:mitochondrial inner membrane; IEA:UniProtKB-SubCell. DR GO; GO:0042645; C:mitochondrial nucleoid; IDA:UniProtKB. DR GO; GO:0005739; C:mitochondrion; HTP:FlyBase. DR InterPro; IPR037694; MTNAP1. DR PANTHER; PTHR16270; HYPOTHETICAL LOC287798; 1. DR PANTHER; PTHR16270:SF5; HYPOTHETICAL LOC287798; 1. PE 1: Evidence at protein level; KW Alternative splicing; Membrane; Mitochondrion; KW Mitochondrion inner membrane; Mitochondrion nucleoid; KW Proteomics identification; Reference proteome; Transmembrane; KW Transmembrane helix. FT CHAIN 1..609 FT /note="Mitochondrial nucleoid-associated protein 1" FT /id="PRO_0000284612" FT TOPO_DOM 1..552 FT /note="Mitochondrial matrix" FT /evidence="ECO:0000269|PubMed:37401363" FT TRANSMEM 553..573 FT /note="Helical" FT /evidence="ECO:0000255" FT TOPO_DOM 574..609 FT /note="Mitochondrial intermembrane" FT /evidence="ECO:0000269|PubMed:37401363" FT REGION 142..168 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 183..202 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 410..441 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 146..161 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 418..441 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT VAR_SEQ 505..540 FT /note="Missing (in isoform 2)" FT /evidence="ECO:0000303|PubMed:11230166, FT ECO:0000303|PubMed:14702039, ECO:0000303|Ref.1" FT /id="VSP_024572" FT VAR_SEQ 578..583 FT /note="KLCRPL -> LQRWRK (in isoform 3)" FT /evidence="ECO:0000303|PubMed:14702039" FT /id="VSP_024573" FT VAR_SEQ 584..609 FT /note="Missing (in isoform 3)" FT /evidence="ECO:0000303|PubMed:14702039" FT /id="VSP_024574" FT VARIANT 226 FT /note="G -> S (in dbSNP:rs9902726)" FT /id="VAR_031779" FT VARIANT 322 FT /note="K -> Q (in dbSNP:rs34784472)" FT /id="VAR_031780" FT VARIANT 356 FT /note="F -> L (in dbSNP:rs745143)" FT /evidence="ECO:0000269|Ref.1" FT /id="VAR_031781" FT VARIANT 395 FT /note="H -> N (in dbSNP:rs904384)" FT /evidence="ECO:0000269|PubMed:11230166, FT ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, FT ECO:0000269|Ref.1, ECO:0000269|Ref.5" FT /id="VAR_031782" FT VARIANT 396 FT /note="C -> R (in dbSNP:rs904383)" FT /evidence="ECO:0000269|Ref.1" FT /id="VAR_031783" FT VARIANT 420 FT /note="Q -> H (in dbSNP:rs745142)" FT /evidence="ECO:0000269|PubMed:14702039, ECO:0000269|Ref.1" FT /id="VAR_031784" FT VARIANT 522 FT /note="A -> T (in dbSNP:rs1566286)" FT /evidence="ECO:0000269|PubMed:14702039, ECO:0000269|Ref.1" FT /id="VAR_031785" FT CONFLICT 33 FT /note="P -> S (in Ref. 2; CAB66674)" FT /evidence="ECO:0000305" FT CONFLICT 484 FT /note="C -> R (in Ref. 4; BAB15680)" FT /evidence="ECO:0000305" FT CONFLICT 536 FT /note="G -> R (in Ref. 4; BAA91344)" FT /evidence="ECO:0000305" SQ SEQUENCE 609 AA; 67315 MW; 2579A2A739C10A43 CRC64; MSDNPPRMEV CPYCKKPFKR LKSHLPYCKM IGPTIPTDQK VYQSKPATLP RAKKMKGPIK DLIKAKGKEL ETENEERNSK LVVDKPEQTV KTFPLPAVGL ERAATTKADK DIKNPIQPSF KMLKNTKPMT TFQEETKAQF YASEKTSPKR ELAKDLPKSG ESRCNPSEAG ASLLVGSIEP SLSNQDRKYS STLPNDVQTT SGDLKLDKID PQRQELLVKL LDVPTGDCHI SPKNVSDGVK RVRTLLSNER DSKGRDHLSG VPTDVTVTET PEKNTESLIL SLKMSSLGKI QVMEKQEKGL TLGVETCGSK GNAEKSMSAT EKQERTVMSH GCENFNTRDS VTGKESQGER PHLSLFIPRE TTYQFHSVSQ SSSQSLASLA TTFLQEKKAE AQNHHCVPDV KALMESPEGQ LSLEPKSDSQ FQASHTGCQS PLCSAQRHTP QSPFTNHAAA AGRKTLRSCM GLEWFPELYP GYLGLGVLPG KPQCWNAMTQ KPQLISPQGE RLSQVSLLER SSTHIRSLEP PAGLTTSNFS LMRLLGAVQK GWIRCNTTIR KSGFGGITML FTGYFVLCCS WSFRRLKKLC RPLPWKSTVP PCIGVAKTTG DCRSKTCLD //