ID CC90B_HUMAN Reviewed; 254 AA. AC Q9GZT6; A8K8I4; B3KP87; B4E3L2; Q3B781; Q9GZU6; DT 24-JUL-2007, integrated into UniProtKB/Swiss-Prot. DT 20-APR-2010, sequence version 2. DT 24-JAN-2024, entry version 145. DE RecName: Full=Coiled-coil domain-containing protein 90B, mitochondrial; DE Flags: Precursor; GN Name=CCDC90B; ORFNames=CUA003, MDS011, MDS025; 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=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 [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT LEU-10. RA Huang C., Qian B., Tu Y., Gu W., Wang Y., Han Z., Chen Z.; RT "Novel genes expressed in hematopoietic stem/progenitor cells from RT Myelodysplastic syndromes patient."; RL Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases. RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). RC TISSUE=Adrenal tumor; RA Xu X., Yang Y., Gao G., Xiao H., Chen Z., Han Z.; RL Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases. RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3), AND VARIANT RP LEU-10. RC TISSUE=Testis, and Uterus; 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 [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=16554811; DOI=10.1038/nature04632; RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G., RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., RA Hattori M., Rogers J., Lander E.S., Sakaki Y.; RT "Human chromosome 11 DNA sequence and analysis including novel gene RT identification."; RL Nature 440:497-500(2006). RN [6] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. 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 [7] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). RC TISSUE=Testis, and Urinary bladder; 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 [8] RP SUBCELLULAR LOCATION. RX PubMed=11256614; DOI=10.1093/embo-reports/kvd058; RA Simpson J.C., Wellenreuther R., Poustka A., Pepperkok R., Wiemann S.; RT "Systematic subcellular localization of novel proteins identified by large- RT scale cDNA sequencing."; RL EMBO Rep. 1:287-292(2000). RN [9] RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RX PubMed=21269460; DOI=10.1186/1752-0509-5-17; RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., RA Bennett K.L., Superti-Furga G., Colinge J.; RT "Initial characterization of the human central proteome."; RL BMC Syst. Biol. 5:17-17(2011). RN [10] 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 [11] RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RX PubMed=25944712; DOI=10.1002/pmic.201400617; RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D., RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.; RT "N-terminome analysis of the human mitochondrial proteome."; RL Proteomics 15:2519-2524(2015). RN [12] RP INTERACTION WITH MCU. RX PubMed=27184846; DOI=10.1016/j.celrep.2016.04.050; RA Tomar D., Dong Z., Shanmughapriya S., Koch D.A., Thomas T., Hoffman N.E., RA Timbalia S.A., Goldman S.J., Breves S.L., Corbally D.P., Nemani N., RA Fairweather J.P., Cutri A.R., Zhang X., Song J., Jana F., Huang J., RA Barrero C., Rabinowitz J.E., Luongo T.S., Schumacher S.M., Rockman M.E., RA Dietrich A., Merali S., Caplan J., Stathopulos P., Ahima R.S., Cheung J.Y., RA Houser S.R., Koch W.J., Patel V., Gohil V.M., Elrod J.W., Rajan S., RA Madesh M.; RT "MCUR1 is a scaffold factor for the MCU complex function and promotes RT mitochondrial bioenergetics."; RL Cell Rep. 15:1673-1685(2016). CC -!- SUBUNIT: Interacts with MCU (PubMed:27184846). CC {ECO:0000269|PubMed:27184846}. CC -!- INTERACTION: CC Q9GZT6; Q9H8Y8: GORASP2; NbExp=3; IntAct=EBI-713148, EBI-739467; CC Q9GZT6; Q92993: KAT5; NbExp=3; IntAct=EBI-713148, EBI-399080; CC Q9GZT6; Q8TAP4-4: LMO3; NbExp=3; IntAct=EBI-713148, EBI-11742507; CC Q9GZT6; Q70IA6: MOB2; NbExp=3; IntAct=EBI-713148, EBI-2558739; CC Q9GZT6; Q15047-2: SETDB1; NbExp=3; IntAct=EBI-713148, EBI-9090795; CC Q9GZT6; P61981: YWHAG; NbExp=3; IntAct=EBI-713148, EBI-359832; CC -!- SUBCELLULAR LOCATION: Mitochondrion membrane CC {ECO:0000269|PubMed:11256614}; Single-pass membrane protein CC {ECO:0000255}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=3; CC Name=1; CC IsoId=Q9GZT6-1; Sequence=Displayed; CC Name=2; CC IsoId=Q9GZT6-2; Sequence=VSP_027003; CC Name=3; CC IsoId=Q9GZT6-3; Sequence=VSP_055663; CC -!- SIMILARITY: Belongs to the CCDC90 family. {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; AL136791; CAB66725.1; -; mRNA. DR EMBL; AF182412; AAG14948.1; -; mRNA. DR EMBL; AF182424; AAG14960.1; -; mRNA. DR EMBL; AF271782; AAG44793.1; -; mRNA. DR EMBL; AK055972; BAG51599.1; -; mRNA. DR EMBL; AK292349; BAF85038.1; -; mRNA. DR EMBL; AK304769; BAG65524.1; -; mRNA. DR EMBL; AP000873; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; CH471076; EAW75089.1; -; Genomic_DNA. DR EMBL; CH471076; EAW75091.1; -; Genomic_DNA. DR EMBL; BC014573; AAH14573.1; -; mRNA. DR EMBL; BC020783; AAH20783.1; -; mRNA. DR EMBL; BC107755; AAI07756.1; -; mRNA. DR CCDS; CCDS66190.1; -. [Q9GZT6-3] DR CCDS; CCDS8266.1; -. [Q9GZT6-1] DR RefSeq; NP_001273045.1; NM_001286116.1. [Q9GZT6-3] DR RefSeq; NP_001273046.1; NM_001286117.1. [Q9GZT6-3] DR RefSeq; NP_001273047.1; NM_001286118.1. DR RefSeq; NP_001273048.1; NM_001286119.1. DR RefSeq; NP_001273049.1; NM_001286120.1. DR RefSeq; NP_068597.2; NM_021825.4. [Q9GZT6-1] DR RefSeq; XP_005274216.1; XM_005274159.3. DR RefSeq; XP_016873593.1; XM_017018104.1. DR PDB; 6H9M; X-ray; 2.10 A; A/B/C=43-126. DR PDBsum; 6H9M; -. DR AlphaFoldDB; Q9GZT6; -. DR SMR; Q9GZT6; -. DR BioGRID; 121923; 220. DR IntAct; Q9GZT6; 43. DR MINT; Q9GZT6; -. DR STRING; 9606.ENSP00000434724; -. DR iPTMnet; Q9GZT6; -. DR PhosphoSitePlus; Q9GZT6; -. DR BioMuta; CCDC90B; -. DR DMDM; 294862420; -. DR EPD; Q9GZT6; -. DR jPOST; Q9GZT6; -. DR MassIVE; Q9GZT6; -. DR MaxQB; Q9GZT6; -. DR PaxDb; 9606-ENSP00000434724; -. DR PeptideAtlas; Q9GZT6; -. DR ProteomicsDB; 3524; -. DR ProteomicsDB; 80133; -. [Q9GZT6-1] DR ProteomicsDB; 80134; -. [Q9GZT6-2] DR Pumba; Q9GZT6; -. DR TopDownProteomics; Q9GZT6-1; -. [Q9GZT6-1] DR TopDownProteomics; Q9GZT6-2; -. [Q9GZT6-2] DR Antibodypedia; 2471; 145 antibodies from 21 providers. DR DNASU; 60492; -. DR Ensembl; ENST00000455220.6; ENSP00000390990.3; ENSG00000137500.10. [Q9GZT6-3] DR Ensembl; ENST00000529689.6; ENSP00000434724.1; ENSG00000137500.10. [Q9GZT6-1] DR GeneID; 60492; -. DR KEGG; hsa:60492; -. DR MANE-Select; ENST00000529689.6; ENSP00000434724.1; NM_021825.5; NP_068597.2. DR UCSC; uc001pac.5; human. [Q9GZT6-1] DR AGR; HGNC:28108; -. DR CTD; 60492; -. DR GeneCards; CCDC90B; -. DR HGNC; HGNC:28108; CCDC90B. DR HPA; ENSG00000137500; Low tissue specificity. DR neXtProt; NX_Q9GZT6; -. DR OpenTargets; ENSG00000137500; -. DR PharmGKB; PA162381967; -. DR VEuPathDB; HostDB:ENSG00000137500; -. DR eggNOG; KOG3156; Eukaryota. DR GeneTree; ENSGT00940000155453; -. DR HOGENOM; CLU_063283_1_0_1; -. DR InParanoid; Q9GZT6; -. DR OMA; IMSHLDS; -. DR OrthoDB; 2916001at2759; -. DR PhylomeDB; Q9GZT6; -. DR TreeFam; TF331442; -. DR PathwayCommons; Q9GZT6; -. DR SignaLink; Q9GZT6; -. DR BioGRID-ORCS; 60492; 42 hits in 1161 CRISPR screens. DR ChiTaRS; CCDC90B; human. DR GeneWiki; CCDC90B; -. DR GenomeRNAi; 60492; -. DR Pharos; Q9GZT6; Tdark. DR PRO; PR:Q9GZT6; -. DR Proteomes; UP000005640; Chromosome 11. DR RNAct; Q9GZT6; Protein. DR Bgee; ENSG00000137500; Expressed in cortical plate and 202 other cell types or tissues. DR ExpressionAtlas; Q9GZT6; baseline and differential. DR GO; GO:0031966; C:mitochondrial membrane; IEA:UniProtKB-SubCell. DR GO; GO:0005739; C:mitochondrion; IDA:LIFEdb. DR Gene3D; 1.20.5.340; -; 1. DR InterPro; IPR024461; CCDC90-like. DR PANTHER; PTHR14360:SF14; COILED-COIL DOMAIN-CONTAINING PROTEIN 90B, MITOCHONDRIAL; 1. DR PANTHER; PTHR14360; UNCHARACTERIZED; 1. DR Pfam; PF07798; CCDC90-like; 1. DR Genevisible; Q9GZT6; HS. PE 1: Evidence at protein level; KW 3D-structure; Alternative splicing; Coiled coil; Membrane; Mitochondrion; KW Reference proteome; Transit peptide; Transmembrane; Transmembrane helix. FT TRANSIT 1..42 FT /note="Mitochondrion" FT /evidence="ECO:0000255" FT CHAIN 43..254 FT /note="Coiled-coil domain-containing protein 90B, FT mitochondrial" FT /id="PRO_0000295695" FT TRANSMEM 231..253 FT /note="Helical" FT /evidence="ECO:0000255" FT COILED 129..164 FT /evidence="ECO:0000255" FT VAR_SEQ 1..101 FT /note="Missing (in isoform 3)" FT /evidence="ECO:0000303|PubMed:14702039" FT /id="VSP_055663" FT VAR_SEQ 1..33 FT /note="MNSRQAWRLFLSQGRGDRWVSRPRGHFSPALRR -> MLANCGSVCEETQFR FT GTTVAPALG (in isoform 2)" FT /evidence="ECO:0000303|PubMed:14702039, FT ECO:0000303|PubMed:15489334" FT /id="VSP_027003" FT VARIANT 10 FT /note="F -> L (in dbSNP:rs494791)" FT /evidence="ECO:0000269|PubMed:14702039, ECO:0000269|Ref.2" FT /id="VAR_033322" FT HELIX 63..71 FT /evidence="ECO:0007829|PDB:6H9M" FT TURN 72..74 FT /evidence="ECO:0007829|PDB:6H9M" FT HELIX 77..101 FT /evidence="ECO:0007829|PDB:6H9M" FT HELIX 105..126 FT /evidence="ECO:0007829|PDB:6H9M" SQ SEQUENCE 254 AA; 29506 MW; 773DB2E66AB6C921 CRC64; MNSRQAWRLF LSQGRGDRWV SRPRGHFSPA LRREFFTTTT KEGYDRRPVD ITPLEQRKLT FDTHALVQDL ETHGFDKTQA ETIVSALTAL SNVSLDTIYK EMVTQAQQEI TVQQLMAHLD AIRKDMVILE KSEFANLRAE NEKMKIELDQ VKQQLMHETS RIRADNKLDI NLERSRVTDM FTDQEKQLME TTTEFTKKDT QTKSIISETS NKIDAEIASL KTLMESNKLE TIRYLAASVF TCLAIALGFY RFWK //