CF089_HUMAN
ID CF089_HUMAN Reviewed; 347 AA.
AC Q6UWU4; B4DTT1; B7Z9L9; F4NAR0; F4NAR1; Q5TDC5; Q6ZMG5; Q7Z356; Q8IZ35;
DT 30-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 21-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 126.
DE RecName: Full=Bombesin receptor-activated protein C6orf89;
DE AltName: Full=Amfion {ECO:0000303|PubMed:23460338};
GN Name=C6orf89; Synonyms=BRAP; ORFNames=UNQ177/PRO203;
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 [MRNA] (ISOFORMS 1 AND 2), FUNCTION, SUBCELLULAR
RP LOCATION (ISOFORMS 1; 2 AND 3), INTERACTION WITH SIN3B, TOPOLOGY,
RP GLYCOSYLATION, AND SUBUNIT.
RC TISSUE=Adipocyte;
RX PubMed=23460338; DOI=10.1002/jcp.24355;
RA Lalioti V.S., Vergarajauregui S., Villasante A., Pulido D., Sandoval I.V.;
RT "C6orf89 encodes three distinct HDAC enhancers that function in the
RT nucleolus, the Golgi and the midbody.";
RL J. Cell. Physiol. 228:1907-1921(2013).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3).
RC TISSUE=Placenta;
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 MRNA] (ISOFORM 2).
RC TISSUE=Colon endothelium;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
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=Muscle, and Placenta;
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 FUNCTION, INTERACTION WITH BRS3, AND SUBCELLULAR LOCATION (ISOFORM 2).
RX PubMed=21857995; DOI=10.1371/journal.pone.0023072;
RA Liu H.J., Tan Y.R., Li M.L., Liu C., Xiang Y., Qin X.Q.;
RT "Cloning of a novel protein interacting with BRS-3 and its effects in wound
RT repair of bronchial epithelial cells.";
RL PLoS ONE 6:E23072-E23072(2011).
CC -!- FUNCTION: Exhibits histone deacetylase (HDAC) enhancer properties
CC (PubMed:23460338). May play a role in cell cycle progression and wound
CC repair of bronchial epithelial cells (PubMed:21857995).
CC {ECO:0000269|PubMed:21857995, ECO:0000269|PubMed:23460338}.
CC -!- SUBUNIT: Homodimer (PubMed:23460338). Interacts with BRS3
CC (PubMed:21857995). Interacts (via N-terminus) with SIN3B
CC (PubMed:23460338). {ECO:0000269|PubMed:21857995,
CC ECO:0000269|PubMed:23460338}.
CC -!- INTERACTION:
CC Q6UWU4-2; A5PKU2: TUSC5; NbExp=3; IntAct=EBI-13322241, EBI-11988865;
CC -!- SUBCELLULAR LOCATION: [Isoform 1]: Golgi apparatus membrane
CC {ECO:0000269|PubMed:23460338}; Single-pass type II membrane protein
CC {ECO:0000269|PubMed:23460338}. Midbody {ECO:0000269|PubMed:23460338}.
CC -!- SUBCELLULAR LOCATION: [Isoform 2]: Golgi apparatus membrane
CC {ECO:0000269|PubMed:23460338}; Single-pass type II membrane protein
CC {ECO:0000269|PubMed:23460338}. Midbody {ECO:0000269|PubMed:23460338}.
CC -!- SUBCELLULAR LOCATION: [Isoform 3]: Cytoplasm
CC {ECO:0000269|PubMed:21857995}. Nucleus, nucleolus
CC {ECO:0000269|PubMed:21857995, ECO:0000269|PubMed:23460338}.
CC Note=Retained in nucleolar organiser regions (NORs) in mitotic cells
CC (PubMed:23460338). {ECO:0000269|PubMed:23460338}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1; Synonyms=42/116mp;
CC IsoId=Q6UWU4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6UWU4-2; Sequence=VSP_018598;
CC Name=3; Synonyms=34/64sp;
CC IsoId=Q6UWU4-3; Sequence=VSP_058111;
CC -!- PTM: Glycosylated. {ECO:0000269|PubMed:23460338}.
CC -!- MISCELLANEOUS: Named amfion, after 'the 4 Amfion heroes in Greek
CC mythology and their deeds in different locations within the mother
CC land. {ECO:0000303|PubMed:23460338}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH23605.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=CAD98021.1; Type=Erroneous initiation; Note=Extended 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; FR832871; CCA30148.1; -; mRNA.
DR EMBL; FR832872; CCA30149.1; -; mRNA.
DR EMBL; AY358637; AAQ89000.1; -; mRNA.
DR EMBL; AK172780; BAD18761.1; -; mRNA.
DR EMBL; AK300351; BAG62093.1; -; mRNA.
DR EMBL; AK315984; BAH14355.1; -; mRNA.
DR EMBL; BX538108; CAD98021.1; ALT_INIT; mRNA.
DR EMBL; AL122034; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471081; EAX03920.1; -; Genomic_DNA.
DR EMBL; CH471081; EAX03919.1; -; Genomic_DNA.
DR EMBL; BC023605; AAH23605.2; ALT_INIT; mRNA.
DR EMBL; BC095423; AAH95423.1; -; mRNA.
DR EMBL; BC105947; AAI05948.1; -; mRNA.
DR EMBL; BC107489; AAI07490.1; -; mRNA.
DR EMBL; BC105946; AAI05947.1; -; mRNA.
DR CCDS; CCDS4827.1; -. [Q6UWU4-2]
DR CCDS; CCDS69100.1; -. [Q6UWU4-1]
DR CCDS; CCDS75444.1; -. [Q6UWU4-3]
DR RefSeq; NP_001273564.1; NM_001286635.1. [Q6UWU4-1]
DR RefSeq; NP_001273565.1; NM_001286636.1. [Q6UWU4-3]
DR RefSeq; NP_001273566.1; NM_001286637.1. [Q6UWU4-3]
DR RefSeq; NP_689947.2; NM_152734.3. [Q6UWU4-2]
DR RefSeq; XP_011512679.1; XM_011514377.2. [Q6UWU4-1]
DR RefSeq; XP_016865921.1; XM_017010432.1. [Q6UWU4-1]
DR RefSeq; XP_016865922.1; XM_017010433.1. [Q6UWU4-1]
DR RefSeq; XP_016865923.1; XM_017010434.1. [Q6UWU4-1]
DR AlphaFoldDB; Q6UWU4; -.
DR SMR; Q6UWU4; -.
DR BioGRID; 128732; 7.
DR IntAct; Q6UWU4; 3.
DR STRING; 9606.ENSP00000347322; -.
DR iPTMnet; Q6UWU4; -.
DR PhosphoSitePlus; Q6UWU4; -.
DR BioMuta; C6orf89; -.
DR EPD; Q6UWU4; -.
DR jPOST; Q6UWU4; -.
DR MassIVE; Q6UWU4; -.
DR MaxQB; Q6UWU4; -.
DR PaxDb; Q6UWU4; -.
DR PeptideAtlas; Q6UWU4; -.
DR PRIDE; Q6UWU4; -.
DR ProteomicsDB; 65011; -.
DR ProteomicsDB; 67525; -. [Q6UWU4-1]
DR ProteomicsDB; 67526; -. [Q6UWU4-2]
DR Antibodypedia; 2729; 37 antibodies from 11 providers.
DR DNASU; 221477; -.
DR Ensembl; ENST00000355190.7; ENSP00000347322.3; ENSG00000198663.17. [Q6UWU4-2]
DR Ensembl; ENST00000359359.6; ENSP00000352316.2; ENSG00000198663.17. [Q6UWU4-3]
DR Ensembl; ENST00000373685.1; ENSP00000362789.1; ENSG00000198663.17. [Q6UWU4-1]
DR Ensembl; ENST00000480824.7; ENSP00000475947.1; ENSG00000198663.17. [Q6UWU4-1]
DR GeneID; 221477; -.
DR KEGG; hsa:221477; -.
DR MANE-Select; ENST00000480824.7; ENSP00000475947.1; NM_001286635.2; NP_001273564.1.
DR UCSC; uc003omw.4; human. [Q6UWU4-1]
DR UCSC; uc063oez.1; human.
DR CTD; 221477; -.
DR DisGeNET; 221477; -.
DR GeneCards; C6orf89; -.
DR HGNC; HGNC:21114; C6orf89.
DR HPA; ENSG00000198663; Low tissue specificity.
DR MIM; 616642; gene.
DR neXtProt; NX_Q6UWU4; -.
DR OpenTargets; ENSG00000198663; -.
DR PharmGKB; PA134986915; -.
DR VEuPathDB; HostDB:ENSG00000198663; -.
DR eggNOG; ENOG502S363; Eukaryota.
DR GeneTree; ENSGT00390000014270; -.
DR HOGENOM; CLU_796829_0_0_1; -.
DR InParanoid; Q6UWU4; -.
DR OMA; HCEMFKV; -.
DR OrthoDB; 1010604at2759; -.
DR PhylomeDB; Q6UWU4; -.
DR TreeFam; TF335525; -.
DR PathwayCommons; Q6UWU4; -.
DR SignaLink; Q6UWU4; -.
DR BioGRID-ORCS; 221477; 46 hits in 1066 CRISPR screens.
DR ChiTaRS; C6orf89; human.
DR GeneWiki; C6orf89; -.
DR GenomeRNAi; 221477; -.
DR Pharos; Q6UWU4; Tbio.
DR PRO; PR:Q6UWU4; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q6UWU4; protein.
DR Bgee; ENSG00000198663; Expressed in left ventricle myocardium and 190 other tissues.
DR ExpressionAtlas; Q6UWU4; baseline and differential.
DR Genevisible; Q6UWU4; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0000139; C:Golgi membrane; IDA:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0030496; C:midbody; IDA:UniProtKB.
DR GO; GO:0005730; C:nucleolus; IDA:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR GO; GO:0050673; P:epithelial cell proliferation; IDA:UniProtKB.
DR GO; GO:0045787; P:positive regulation of cell cycle; IDA:UniProtKB.
DR GO; GO:1901727; P:positive regulation of histone deacetylase activity; IDA:UniProtKB.
DR GO; GO:0042060; P:wound healing; IDA:UniProtKB.
DR InterPro; IPR038757; BRAP.
DR PANTHER; PTHR35259; PTHR35259; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Glycoprotein; Golgi apparatus; Membrane;
KW Nucleus; Reference proteome; Signal-anchor; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..347
FT /note="Bombesin receptor-activated protein C6orf89"
FT /id="PRO_0000237621"
FT TOPO_DOM 1..58
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305|PubMed:23460338"
FT TRANSMEM 59..79
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 80..347
FT /note="Extracellular"
FT /evidence="ECO:0000305|PubMed:23460338"
FT VAR_SEQ 1..106
FT /note="Missing (in isoform 3)"
FT /id="VSP_058111"
FT VAR_SEQ 1
FT /note="M -> MDFILEDM (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334, ECO:0000303|PubMed:17974005,
FT ECO:0000303|PubMed:23460338"
FT /id="VSP_018598"
FT CONFLICT 5
FT /note="A -> V (in Ref. 4; CAD98021)"
FT /evidence="ECO:0000305"
FT CONFLICT 171
FT /note="D -> H (in Ref. 1; CCA30148/CCA30149)"
FT /evidence="ECO:0000305"
FT CONFLICT 189
FT /note="P -> A (in Ref. 3; BAH14355)"
FT /evidence="ECO:0000305"
FT CONFLICT 327
FT /note="Y -> C (in Ref. 4; CAD98021)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 347 AA; 39870 MW; EFE39F1A9A514595 CRC64;
MDLAANEISI YDKLSETVDL VRQTGHQCGM SEKAIEKFIR QLLEKNEPQR PPPQYPLLIV
VYKVLATLGL ILLTAYFVIQ PFSPLAPEPV LSGAHTWRSL IHHIRLMSLP IAKKYMSENK
GVPLHGGDED RPFPDFDPWW TNDCEQNESE PIPANCTGCA QKHLKVMLLE DAPRKFERLH
PLVIKTGKPL LEEEIQHFLC QYPEATEGFS EGFFAKWWRC FPERWFPFPY PWRRPLNRSQ
MLRELFPVFT HLPFPKDASL NKCSFLHPEP VVGSKMHKMP DLFIIGSGEA MLQLIPPFQC
RRHCQSVAMP IEPGDIGYVD TTHWKVYVIA RGVQPLVICD GTAFSEL
