CYBC1_HUMAN
ID CYBC1_HUMAN Reviewed; 187 AA.
AC Q9BQA9; E1B6X3; Q96NR1;
DT 20-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 135.
DE RecName: Full=Cytochrome b-245 chaperone 1 {ECO:0000305};
DE AltName: Full=Essential for reactive oxygen species protein {ECO:0000250|UniProtKB:Q3TYS2};
DE Short=Eros {ECO:0000250|UniProtKB:Q3TYS2};
GN Name=CYBC1 {ECO:0000312|HGNC:HGNC:28672};
GN Synonyms=C17orf62 {ECO:0000312|HGNC:HGNC:28672},
GN EROS {ECO:0000250|UniProtKB:Q3TYS2};
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).
RC TISSUE=Cerebellum;
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 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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton 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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Lung carcinoma;
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 [5]
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 [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [7]
RP INVOLVEMENT IN CGD5.
RX PubMed=28600779; DOI=10.1007/s00439-017-1821-8;
RA Monies D., Abouelhoda M., AlSayed M., Alhassnan Z., Alotaibi M.,
RA Kayyali H., Al-Owain M., Shah A., Rahbeeni Z., Al-Muhaizea M.A.,
RA Alzaidan H.I., Cupler E., Bohlega S., Faqeih E., Faden M., Alyounes B.,
RA Jaroudi D., Goljan E., Elbardisy H., Akilan A., Albar R., Aldhalaan H.,
RA Gulab S., Chedrawi A., Al Saud B.K., Kurdi W., Makhseed N., Alqasim T.,
RA El Khashab H.Y., Al-Mousa H., Alhashem A., Kanaan I., Algoufi T.,
RA Alsaleem K., Basha T.A., Al-Murshedi F., Khan S., Al-Kindy A., Alnemer M.,
RA Al-Hajjar S., Alyamani S., Aldhekri H., Al-Mehaidib A., Arnaout R.,
RA Dabbagh O., Shagrani M., Broering D., Tulbah M., Alqassmi A., Almugbel M.,
RA AlQuaiz M., Alsaman A., Al-Thihli K., Sulaiman R.A., Al-Dekhail W.,
RA Alsaegh A., Bashiri F.A., Qari A., Alhomadi S., Alkuraya H., Alsebayel M.,
RA Hamad M.H., Szonyi L., Abaalkhail F., Al-Mayouf S.M., Almojalli H.,
RA Alqadi K.S., Elsiesy H., Shuaib T.M., Seidahmed M.Z., Abosoudah I.,
RA Akleh H., AlGhonaium A., Alkharfy T.M., Al Mutairi F., Eyaid W.,
RA Alshanbary A., Sheikh F.R., Alsohaibani F.I., Alsonbul A., Al Tala S.,
RA Balkhy S., Bassiouni R., Alenizi A.S., Hussein M.H., Hassan S., Khalil M.,
RA Tabarki B., Alshahwan S., Oshi A., Sabr Y., Alsaadoun S., Salih M.A.,
RA Mohamed S., Sultana H., Tamim A., El-Haj M., Alshahrani S., Bubshait D.K.,
RA Alfadhel M., Faquih T., El-Kalioby M., Subhani S., Shah Z., Moghrabi N.,
RA Meyer B.F., Alkuraya F.S.;
RT "The landscape of genetic diseases in Saudi Arabia based on the first 1000
RT diagnostic panels and exomes.";
RL Hum. Genet. 136:921-939(2017).
RN [8]
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 [9]
RP SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND INDUCTION BY IFNG.
RX PubMed=28351984; DOI=10.1084/jem.20161382;
RA Thomas D.C., Clare S., Sowerby J.M., Pardo M., Juss J.K., Goulding D.A.,
RA van der Weyden L., Storisteanu D., Prakash A., Espeli M., Flint S.,
RA Lee J.C., Hoenderdos K., Kane L., Harcourt K., Mukhopadhyay S., Umrania Y.,
RA Antrobus R., Nathan J.A., Adams D.J., Bateman A., Choudhary J.S.,
RA Lyons P.A., Condliffe A.M., Chilvers E.R., Dougan G., Smith K.G.;
RT "Eros is a novel transmembrane protein that controls the phagocyte
RT respiratory burst and is essential for innate immunity.";
RL J. Exp. Med. 214:1111-1128(2017).
RN [10]
RP VARIANT CGD5 2-TYR--SER-187 DEL, CHARACTERIZATION OF VARIANT CGD5
RP 2-TYR--SER-187 DEL, AND FUNCTION.
RX PubMed=30361506; DOI=10.1038/s41467-018-06964-x;
RA Arnadottir G.A., Norddahl G.L., Gudmundsdottir S., Agustsdottir A.B.,
RA Sigurdsson S., Jensson B.O., Bjarnadottir K., Theodors F.,
RA Benonisdottir S., Ivarsdottir E.V., Oddsson A., Kristjansson R.P.,
RA Sulem G., Alexandersson K.F., Juliusdottir T., Gudmundsson K.R.,
RA Saemundsdottir J., Jonasdottir A., Jonasdottir A., Sigurdsson A.,
RA Manzanillo P., Gudjonsson S.A., Thorisson G.A., Magnusson O.T., Masson G.,
RA Orvar K.B., Holm H., Bjornsson S., Arngrimsson R., Gudbjartsson D.F.,
RA Thorsteinsdottir U., Jonsdottir I., Haraldsson A., Sulem P., Stefansson K.;
RT "A homozygous loss-of-function mutation leading to CYBC1 deficiency causes
RT chronic granulomatous disease.";
RL Nat. Commun. 9:4447-4447(2018).
CC -!- FUNCTION: Functions as a chaperone necessary for a stable expression of
CC the CYBA and CYBB subunits of the cytochrome b-245 heterodimer
CC (PubMed:30361506). Controls the phagocyte respiratory burst and is
CC essential for innate immunity (By similarity).
CC {ECO:0000250|UniProtKB:Q3TYS2, ECO:0000269|PubMed:30361506}.
CC -!- SUBUNIT: Interacts with CYBB; CYBC1 may act as a chaperone stabilizing
CC Cytochrome b-245 heterodimer. {ECO:0000269|PubMed:28351984}.
CC -!- INTERACTION:
CC Q9BQA9; Q15848: ADIPOQ; NbExp=3; IntAct=EBI-2680384, EBI-10827839;
CC Q9BQA9; Q6RW13-2: AGTRAP; NbExp=3; IntAct=EBI-2680384, EBI-11522760;
CC Q9BQA9; Q8IVF2-3: AHNAK2; NbExp=3; IntAct=EBI-2680384, EBI-12078468;
CC Q9BQA9; Q9NVV5-2: AIG1; NbExp=3; IntAct=EBI-2680384, EBI-11957045;
CC Q9BQA9; Q8NCL9: APCDD1L; NbExp=3; IntAct=EBI-2680384, EBI-12904424;
CC Q9BQA9; P02652: APOA2; NbExp=3; IntAct=EBI-2680384, EBI-1171525;
CC Q9BQA9; Q9BQE5: APOL2; NbExp=3; IntAct=EBI-2680384, EBI-4290634;
CC Q9BQA9; Q96PS8: AQP10; NbExp=3; IntAct=EBI-2680384, EBI-12820279;
CC Q9BQA9; Q13520: AQP6; NbExp=3; IntAct=EBI-2680384, EBI-13059134;
CC Q9BQA9; O94778: AQP8; NbExp=3; IntAct=EBI-2680384, EBI-19124986;
CC Q9BQA9; O15155: BET1; NbExp=3; IntAct=EBI-2680384, EBI-749204;
CC Q9BQA9; Q8WVX3-2: C4orf3; NbExp=3; IntAct=EBI-2680384, EBI-12003442;
CC Q9BQA9; P19397: CD53; NbExp=3; IntAct=EBI-2680384, EBI-6657396;
CC Q9BQA9; Q8N5K1: CISD2; NbExp=3; IntAct=EBI-2680384, EBI-1045797;
CC Q9BQA9; O95471: CLDN7; NbExp=3; IntAct=EBI-2680384, EBI-740744;
CC Q9BQA9; Q9NWW5: CLN6; NbExp=3; IntAct=EBI-2680384, EBI-6165897;
CC Q9BQA9; O75208: COQ9; NbExp=3; IntAct=EBI-2680384, EBI-724524;
CC Q9BQA9; Q7Z7G2: CPLX4; NbExp=3; IntAct=EBI-2680384, EBI-18013275;
CC Q9BQA9; P04839: CYBB; NbExp=3; IntAct=EBI-2680384, EBI-6253630;
CC Q9BQA9; Q9Y282: ERGIC3; NbExp=3; IntAct=EBI-2680384, EBI-781551;
CC Q9BQA9; P14921: ETS1; NbExp=3; IntAct=EBI-2680384, EBI-913209;
CC Q9BQA9; Q5JX71: FAM209A; NbExp=3; IntAct=EBI-2680384, EBI-18304435;
CC Q9BQA9; P48165: GJA8; NbExp=3; IntAct=EBI-2680384, EBI-17458373;
CC Q9BQA9; Q8TDV0: GPR151; NbExp=3; IntAct=EBI-2680384, EBI-11955647;
CC Q9BQA9; Q8TDT2: GPR152; NbExp=3; IntAct=EBI-2680384, EBI-13345167;
CC Q9BQA9; Q8NBQ5: HSD17B11; NbExp=3; IntAct=EBI-2680384, EBI-1052304;
CC Q9BQA9; Q7Z5P4: HSD17B13; NbExp=3; IntAct=EBI-2680384, EBI-18053395;
CC Q9BQA9; Q9Y5U4: INSIG2; NbExp=3; IntAct=EBI-2680384, EBI-8503746;
CC Q9BQA9; Q8N5M9: JAGN1; NbExp=3; IntAct=EBI-2680384, EBI-10266796;
CC Q9BQA9; Q8N6L0: KASH5; NbExp=6; IntAct=EBI-2680384, EBI-749265;
CC Q9BQA9; P43628: KIR2DL3; NbExp=3; IntAct=EBI-2680384, EBI-8632435;
CC Q9BQA9; O43561-2: LAT; NbExp=3; IntAct=EBI-2680384, EBI-8070286;
CC Q9BQA9; Q9BS40: LXN; NbExp=3; IntAct=EBI-2680384, EBI-1044504;
CC Q9BQA9; Q9GZY8-5: MFF; NbExp=3; IntAct=EBI-2680384, EBI-11956541;
CC Q9BQA9; Q5SR56: MFSD14B; NbExp=3; IntAct=EBI-2680384, EBI-373355;
CC Q9BQA9; O14880: MGST3; NbExp=3; IntAct=EBI-2680384, EBI-724754;
CC Q9BQA9; Q9H2K0: MTIF3; NbExp=3; IntAct=EBI-2680384, EBI-3923617;
CC Q9BQA9; Q9NZG7: NINJ2; NbExp=3; IntAct=EBI-2680384, EBI-10317425;
CC Q9BQA9; Q9HBY0: NOX3; NbExp=3; IntAct=EBI-2680384, EBI-13069010;
CC Q9BQA9; Q8N912: NRAC; NbExp=3; IntAct=EBI-2680384, EBI-12051377;
CC Q9BQA9; Q8IXM6: NRM; NbExp=3; IntAct=EBI-2680384, EBI-10262547;
CC Q9BQA9; P51575: P2RX1; NbExp=5; IntAct=EBI-2680384, EBI-11599725;
CC Q9BQA9; Q13113: PDZK1IP1; NbExp=3; IntAct=EBI-2680384, EBI-716063;
CC Q9BQA9; O00623: PEX12; NbExp=3; IntAct=EBI-2680384, EBI-594836;
CC Q9BQA9; O60664: PLIN3; NbExp=3; IntAct=EBI-2680384, EBI-725795;
CC Q9BQA9; P60201-2: PLP1; NbExp=3; IntAct=EBI-2680384, EBI-12188331;
CC Q9BQA9; Q04941: PLP2; NbExp=3; IntAct=EBI-2680384, EBI-608347;
CC Q9BQA9; O00767: SCD; NbExp=3; IntAct=EBI-2680384, EBI-2684237;
CC Q9BQA9; Q96DD7: SHISA4; NbExp=3; IntAct=EBI-2680384, EBI-18035902;
CC Q9BQA9; Q9NQQ7-3: SLC35C2; NbExp=3; IntAct=EBI-2680384, EBI-17295964;
CC Q9BQA9; P16150: SPN; NbExp=3; IntAct=EBI-2680384, EBI-10049055;
CC Q9BQA9; Q8WWF3: SSMEM1; NbExp=3; IntAct=EBI-2680384, EBI-17280858;
CC Q9BQA9; P32856-2: STX2; NbExp=3; IntAct=EBI-2680384, EBI-11956649;
CC Q9BQA9; P07204: THBD; NbExp=3; IntAct=EBI-2680384, EBI-941422;
CC Q9BQA9; Q96DZ7: TM4SF19; NbExp=3; IntAct=EBI-2680384, EBI-6448756;
CC Q9BQA9; Q5BJH2-2: TMEM128; NbExp=3; IntAct=EBI-2680384, EBI-10694905;
CC Q9BQA9; Q96HE8: TMEM80; NbExp=3; IntAct=EBI-2680384, EBI-11742770;
CC Q9BQA9; O15393-2: TMPRSS2; NbExp=3; IntAct=EBI-2680384, EBI-12345267;
CC Q9BQA9; Q9Y320: TMX2; NbExp=3; IntAct=EBI-2680384, EBI-6447886;
CC Q9BQA9; Q8N609: TRAM1L1; NbExp=3; IntAct=EBI-2680384, EBI-11996766;
CC Q9BQA9; O95859: TSPAN12; NbExp=3; IntAct=EBI-2680384, EBI-2466403;
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane
CC {ECO:0000269|PubMed:28351984}; Single-pass membrane protein
CC {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9BQA9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BQA9-2; Sequence=VSP_046335;
CC -!- TISSUE SPECIFICITY: Highly expressed in macrophages, neutrophils and
CC monocytes. {ECO:0000269|PubMed:28351984}.
CC -!- INDUCTION: In macrophages, expression is induced after treatment with
CC IFNG or a combination of IFNG and Salmonella Tiphimurium.
CC {ECO:0000269|PubMed:28351984}.
CC -!- DISEASE: Granulomatous disease, chronic, autosomal recessive, 5 (CGD5)
CC [MIM:618935]: A form of chronic granulomatous disease, a primary
CC immunodeficiency characterized by severe recurrent bacterial and fungal
CC infections, along with manifestations of chronic granulomatous
CC inflammation. It results from an impaired ability of phagocytes to
CC mount a burst of reactive oxygen species in response to pathogens. CGD5
CC is an autosomal recessive form characterized by onset of recurrent
CC infections and severe colitis in the first decade of life. Clinical
CC manifestations include increased susceptibility to catalase-positive
CC organisms, features of inflammatory bowel disease, lymphopenia,
CC lymphadenitis, and autoinflammatory symptoms in some patients.
CC {ECO:0000269|PubMed:28600779, ECO:0000269|PubMed:30361506}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SIMILARITY: Belongs to the CYBC1 family.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB70818.1; Type=Miscellaneous discrepancy; Note=Wrong choice of frame.; Evidence={ECO:0000305};
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DR EMBL; AK054876; BAB70818.1; ALT_SEQ; mRNA.
DR EMBL; AC132938; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471099; EAW89786.1; -; Genomic_DNA.
DR EMBL; BC004171; AAH04171.1; -; mRNA.
DR EMBL; BC003595; AAH03595.1; -; mRNA.
DR CCDS; CCDS32776.1; -. [Q9BQA9-1]
DR CCDS; CCDS45817.1; -. [Q9BQA9-2]
DR RefSeq; NP_001028218.1; NM_001033046.3. [Q9BQA9-1]
DR RefSeq; NP_001093877.1; NM_001100407.2. [Q9BQA9-1]
DR RefSeq; NP_001093878.1; NM_001100408.2. [Q9BQA9-2]
DR RefSeq; NP_001180582.1; NM_001193653.1. [Q9BQA9-1]
DR RefSeq; NP_001180583.1; NM_001193654.1. [Q9BQA9-1]
DR RefSeq; NP_001180584.1; NM_001193655.1. [Q9BQA9-1]
DR RefSeq; NP_001180586.1; NM_001193657.1. [Q9BQA9-1]
DR RefSeq; XP_006722356.1; XM_006722293.2. [Q9BQA9-2]
DR RefSeq; XP_016880563.1; XM_017025074.1. [Q9BQA9-1]
DR RefSeq; XP_016880564.1; XM_017025075.1.
DR RefSeq; XP_016880565.1; XM_017025076.1. [Q9BQA9-1]
DR RefSeq; XP_016880566.1; XM_017025077.1. [Q9BQA9-1]
DR RefSeq; XP_016880567.1; XM_017025078.1. [Q9BQA9-2]
DR AlphaFoldDB; Q9BQA9; -.
DR BioGRID; 122665; 84.
DR IntAct; Q9BQA9; 66.
DR MINT; Q9BQA9; -.
DR STRING; 9606.ENSP00000388909; -.
DR iPTMnet; Q9BQA9; -.
DR PhosphoSitePlus; Q9BQA9; -.
DR BioMuta; C17orf62; -.
DR DMDM; 74732825; -.
DR EPD; Q9BQA9; -.
DR jPOST; Q9BQA9; -.
DR MassIVE; Q9BQA9; -.
DR MaxQB; Q9BQA9; -.
DR PaxDb; Q9BQA9; -.
DR PeptideAtlas; Q9BQA9; -.
DR PRIDE; Q9BQA9; -.
DR ProteomicsDB; 15206; -.
DR ProteomicsDB; 78649; -. [Q9BQA9-1]
DR TopDownProteomics; Q9BQA9-1; -. [Q9BQA9-1]
DR Antibodypedia; 53358; 136 antibodies from 13 providers.
DR DNASU; 79415; -.
DR Ensembl; ENST00000306645.10; ENSP00000307765.5; ENSG00000178927.18. [Q9BQA9-1]
DR Ensembl; ENST00000434650.6; ENSP00000401626.2; ENSG00000178927.18. [Q9BQA9-2]
DR Ensembl; ENST00000437807.6; ENSP00000388909.2; ENSG00000178927.18. [Q9BQA9-1]
DR Ensembl; ENST00000577436.5; ENSP00000464633.1; ENSG00000178927.18. [Q9BQA9-2]
DR Ensembl; ENST00000577732.5; ENSP00000463228.1; ENSG00000178927.18. [Q9BQA9-1]
DR Ensembl; ENST00000578919.5; ENSP00000464080.1; ENSG00000178927.18. [Q9BQA9-1]
DR Ensembl; ENST00000585064.5; ENSP00000463846.1; ENSG00000178927.18. [Q9BQA9-1]
DR Ensembl; ENST00000585080.5; ENSP00000462529.1; ENSG00000178927.18. [Q9BQA9-1]
DR GeneID; 79415; -.
DR KEGG; hsa:79415; -.
DR MANE-Select; ENST00000306645.10; ENSP00000307765.5; NM_001033046.4; NP_001028218.1.
DR UCSC; uc002kfa.5; human. [Q9BQA9-1]
DR CTD; 79415; -.
DR DisGeNET; 79415; -.
DR GeneCards; CYBC1; -.
DR GeneReviews; CYBC1; -.
DR HGNC; HGNC:28672; CYBC1.
DR HPA; ENSG00000178927; Low tissue specificity.
DR MalaCards; CYBC1; -.
DR MIM; 618334; gene.
DR MIM; 618935; phenotype.
DR neXtProt; NX_Q9BQA9; -.
DR OpenTargets; ENSG00000178927; -.
DR Orphanet; 379; Chronic granulomatous disease.
DR PharmGKB; PA142672245; -.
DR VEuPathDB; HostDB:ENSG00000178927; -.
DR eggNOG; ENOG502S06T; Eukaryota.
DR GeneTree; ENSGT00390000004691; -.
DR HOGENOM; CLU_100734_0_0_1; -.
DR InParanoid; Q9BQA9; -.
DR OMA; IRSWSLC; -.
DR OrthoDB; 1293240at2759; -.
DR PhylomeDB; Q9BQA9; -.
DR TreeFam; TF332389; -.
DR PathwayCommons; Q9BQA9; -.
DR SignaLink; Q9BQA9; -.
DR BioGRID-ORCS; 79415; 15 hits in 1072 CRISPR screens.
DR ChiTaRS; C17orf62; human.
DR GenomeRNAi; 79415; -.
DR Pharos; Q9BQA9; Tdark.
DR PRO; PR:Q9BQA9; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q9BQA9; protein.
DR Bgee; ENSG00000178927; Expressed in granulocyte and 175 other tissues.
DR ExpressionAtlas; Q9BQA9; baseline and differential.
DR Genevisible; Q9BQA9; HS.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:UniProtKB.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0045087; P:innate immune response; IMP:UniProtKB.
DR GO; GO:0045728; P:respiratory burst after phagocytosis; IMP:UniProtKB.
DR InterPro; IPR027846; Cybc1.
DR PANTHER; PTHR31837; PTHR31837; 1.
DR Pfam; PF15169; Cybc1_Eros; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Chaperone; Chronic granulomatous disease;
KW Disease variant; Endoplasmic reticulum; Immunity; Innate immunity;
KW Membrane; Phosphoprotein; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..187
FT /note="Cytochrome b-245 chaperone 1"
FT /id="PRO_0000281418"
FT TRANSMEM 20..42
FT /note="Helical"
FT /evidence="ECO:0000255"
FT MOD_RES 168
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q6AYA6"
FT VAR_SEQ 29..42
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_046335"
FT VARIANT 2..187
FT /note="Missing (in CGD5; loss of protein expression;
FT decreased PMA-induced oxidative burst in neutrophils)"
FT /evidence="ECO:0000269|PubMed:30361506"
FT /id="VAR_084696"
SQ SEQUENCE 187 AA; 20774 MW; 363321B2FC5D36A7 CRC64;
MYLQVETRTS SRLHLKRAPG IRSWSLLVGI LSIGLAAAYY SGDSLGWKLF YVTGCLFVAV
QNLEDWEEAI FDKSTGKVVL KTFSLYKKLL TLFRAGHDQV VVLLHDVRDV SVEEEKVRYF
GKGYMVVLRL ATGFSHPLTQ SAVMGHRSDV EAIAKLITSF LELHCLESPT ELSQSSDSEA
GDPASQS
