CC90B_HUMAN
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 03-AUG-2022, entry version 137.
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}.
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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; CCDS66191.1; -. [Q9GZT6-3]
DR CCDS; CCDS8266.1; -. [Q9GZT6-1]
DR RefSeq; NP_001273045.1; NM_001286116.1. [Q9GZT6-2]
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. [Q9GZT6-3]
DR RefSeq; XP_016873593.1; XM_017018104.1. [Q9GZT6-3]
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; 216.
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; Q9GZT6; -.
DR PeptideAtlas; Q9GZT6; -.
DR PRIDE; Q9GZT6; -.
DR ProteomicsDB; 3524; -.
DR ProteomicsDB; 80133; -. [Q9GZT6-1]
DR ProteomicsDB; 80134; -. [Q9GZT6-2]
DR TopDownProteomics; Q9GZT6-1; -. [Q9GZT6-1]
DR TopDownProteomics; Q9GZT6-2; -. [Q9GZT6-2]
DR Antibodypedia; 2471; 130 antibodies from 21 providers.
DR DNASU; 60492; -.
DR Ensembl; ENST00000455220.6; ENSP00000390990.2; ENSG00000137500.10. [Q9GZT6-2]
DR Ensembl; ENST00000525503.5; ENSP00000431424.1; ENSG00000137500.10. [Q9GZT6-3]
DR Ensembl; ENST00000529611.5; ENSP00000431345.1; 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 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; QAVAMMK; -.
DR OrthoDB; 1252164at2759; -.
DR PhylomeDB; Q9GZT6; -.
DR TreeFam; TF331442; -.
DR PathwayCommons; Q9GZT6; -.
DR SignaLink; Q9GZT6; -.
DR BioGRID-ORCS; 60492; 41 hits in 1081 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 200 other tissues.
DR ExpressionAtlas; Q9GZT6; baseline and differential.
DR Genevisible; Q9GZT6; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0031966; C:mitochondrial membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005739; C:mitochondrion; IDA:LIFEdb.
DR InterPro; IPR024461; CCDC90-like.
DR PANTHER; PTHR14360; PTHR14360; 1.
DR Pfam; PF07798; DUF1640; 1.
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
