BBLN_HUMAN
ID BBLN_HUMAN Reviewed; 83 AA.
AC Q9BUW7; Q5SYV8; Q9Y3F7;
DT 31-JAN-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 148.
DE RecName: Full=Bublin coiled-coil protein {ECO:0000312|HGNC:HGNC:17823};
DE AltName: Full=UPF0184 protein C9orf16;
GN Name=BBLN {ECO:0000312|HGNC:HGNC:17823}; Synonyms=C9orf16;
GN ORFNames=EST00098;
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].
RC TISSUE=Thymus;
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=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Muscle;
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 NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 27-83.
RX PubMed=10369878; DOI=10.1093/hmg/8.7.1313;
RA Gilley J., Fried M.;
RT "Extensive gene order differences within regions of conserved synteny
RT between the Fugu and human genomes: implications for chromosomal evolution
RT and the cloning of disease genes.";
RL Hum. Mol. Genet. 8:1313-1320(1999).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-82, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=16964243; DOI=10.1038/nbt1240;
RA Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P.;
RT "A probability-based approach for high-throughput protein phosphorylation
RT analysis and site localization.";
RL Nat. Biotechnol. 24:1285-1292(2006).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-82, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [8]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in a
RT refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [9]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-82, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [10]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-82, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full phosphorylation
RT site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [11]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-82, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T.,
RA Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.;
RT "System-wide temporal characterization of the proteome and phosphoproteome
RT of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
CC -!- INTERACTION:
CC Q9BUW7; Q92870-2: APBB2; NbExp=3; IntAct=EBI-752084, EBI-21535880;
CC Q9BUW7; Q6PJ05: ATP6V1D; NbExp=5; IntAct=EBI-752084, EBI-10253919;
CC Q9BUW7; Q9Y5K8: ATP6V1D; NbExp=5; IntAct=EBI-752084, EBI-2684998;
CC Q9BUW7; Q96A05: ATP6V1E2; NbExp=3; IntAct=EBI-752084, EBI-8650380;
CC Q9BUW7; O15078: CEP290; NbExp=6; IntAct=EBI-752084, EBI-1811944;
CC Q9BUW7; Q49A55: FGD4; NbExp=3; IntAct=EBI-752084, EBI-12186431;
CC Q9BUW7; P42858: HTT; NbExp=6; IntAct=EBI-752084, EBI-466029;
CC Q9BUW7; Q70UQ0: IKBIP; NbExp=3; IntAct=EBI-752084, EBI-2557212;
CC Q9BUW7; P35900: KRT20; NbExp=9; IntAct=EBI-752084, EBI-742094;
CC Q9BUW7; Q7Z412: PEX26; NbExp=3; IntAct=EBI-752084, EBI-752057;
CC Q9BUW7; D3DTS7: PMP22; NbExp=3; IntAct=EBI-752084, EBI-25882629;
CC -!- SIMILARITY: Belongs to the UPF0184 (EST00098) family. {ECO:0000305}.
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DR EMBL; AK315753; BAG38107.1; -; mRNA.
DR EMBL; AL590708; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471090; EAW87751.1; -; Genomic_DNA.
DR EMBL; BC001857; AAH01857.1; -; mRNA.
DR EMBL; BC008887; AAH08887.1; -; mRNA.
DR EMBL; Y17450; CAB44344.1; -; Genomic_DNA.
DR CCDS; CCDS6893.1; -.
DR RefSeq; NP_077017.1; NM_024112.3.
DR AlphaFoldDB; Q9BUW7; -.
DR SMR; Q9BUW7; -.
DR BioGRID; 122542; 46.
DR DIP; DIP-29481N; -.
DR IntAct; Q9BUW7; 21.
DR STRING; 9606.ENSP00000362085; -.
DR GlyGen; Q9BUW7; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9BUW7; -.
DR PhosphoSitePlus; Q9BUW7; -.
DR BioMuta; C9orf16; -.
DR DMDM; 20137930; -.
DR EPD; Q9BUW7; -.
DR jPOST; Q9BUW7; -.
DR MassIVE; Q9BUW7; -.
DR MaxQB; Q9BUW7; -.
DR PaxDb; Q9BUW7; -.
DR PeptideAtlas; Q9BUW7; -.
DR PRIDE; Q9BUW7; -.
DR ProteomicsDB; 79140; -.
DR Antibodypedia; 17364; 83 antibodies from 16 providers.
DR DNASU; 79095; -.
DR Ensembl; ENST00000372994.2; ENSP00000362085.1; ENSG00000171159.5.
DR GeneID; 79095; -.
DR KEGG; hsa:79095; -.
DR MANE-Select; ENST00000372994.2; ENSP00000362085.1; NM_024112.4; NP_077017.1.
DR UCSC; uc004btp.1; human.
DR CTD; 79095; -.
DR DisGeNET; 79095; -.
DR GeneCards; BBLN; -.
DR HGNC; HGNC:17823; BBLN.
DR HPA; ENSG00000171159; Tissue enhanced (adrenal).
DR neXtProt; NX_Q9BUW7; -.
DR OpenTargets; ENSG00000171159; -.
DR VEuPathDB; HostDB:ENSG00000171159; -.
DR eggNOG; ENOG502SAFB; Eukaryota.
DR GeneTree; ENSGT00390000001761; -.
DR HOGENOM; CLU_167244_0_0_1; -.
DR InParanoid; Q9BUW7; -.
DR OMA; YAAINNM; -.
DR OrthoDB; 1545221at2759; -.
DR PhylomeDB; Q9BUW7; -.
DR TreeFam; TF324640; -.
DR PathwayCommons; Q9BUW7; -.
DR SignaLink; Q9BUW7; -.
DR BioGRID-ORCS; 79095; 63 hits in 1031 CRISPR screens.
DR GenomeRNAi; 79095; -.
DR Pharos; Q9BUW7; Tdark.
DR PRO; PR:Q9BUW7; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q9BUW7; protein.
DR Bgee; ENSG00000171159; Expressed in right adrenal gland cortex and 202 other tissues.
DR Genevisible; Q9BUW7; HS.
DR InterPro; IPR005374; BBLN_eukaryota.
DR PANTHER; PTHR34344; PTHR34344; 1.
PE 1: Evidence at protein level;
KW Coiled coil; Phosphoprotein; Reference proteome.
FT CHAIN 1..83
FT /note="Bublin coiled-coil protein"
FT /id="PRO_0000195161"
FT REGION 1..24
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 25..74
FT /evidence="ECO:0000255"
FT MOD_RES 82
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:16964243,
FT ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
FT ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692"
FT CONFLICT 35
FT /note="L -> V (in Ref. 5; CAB44344)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 83 AA; 9054 MW; EBE1D0AFAAD6DABB CRC64;
MSGPNGDLGM PVEAGAEGEE DGFGEAEYAA INSMLDQINS CLDHLEEKND HLHARLQELL
ESNRQTRLEF QQQLGEAPSD ASP
