F184A_HUMAN
ID F184A_HUMAN Reviewed; 1140 AA.
AC Q8NB25; B9DI75; F8W8D6; Q5TBS9; Q7Z323; Q96GY8; Q9H0J8; Q9H851;
DT 16-MAY-2003, integrated into UniProtKB/Swiss-Prot.
DT 14-OCT-2008, sequence version 3.
DT 03-AUG-2022, entry version 150.
DE RecName: Full=Protein FAM184A;
GN Name=FAM184A; Synonyms=C6orf60;
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 4).
RC TISSUE=Fetal brain;
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 [2]
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 [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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 54-1140 (ISOFORM 2), AND
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 617-1140 (ISOFORM 1).
RC TISSUE=Brain;
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 MRNA] OF 688-1140 (ISOFORM 1).
RC TISSUE=Eye;
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 847-1140 (ISOFORM 3).
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).
CC -!- INTERACTION:
CC Q8NB25; P22607: FGFR3; NbExp=3; IntAct=EBI-9917523, EBI-348399;
CC Q8NB25; P06396: GSN; NbExp=3; IntAct=EBI-9917523, EBI-351506;
CC Q8NB25; P01112: HRAS; NbExp=3; IntAct=EBI-9917523, EBI-350145;
CC Q8NB25; Q96KQ4: PPP1R13B; NbExp=3; IntAct=EBI-9917523, EBI-1105153;
CC Q8NB25; Q9UMX0: UBQLN1; NbExp=3; IntAct=EBI-9917523, EBI-741480;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q8NB25-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NB25-2; Sequence=VSP_007446, VSP_007447;
CC Name=3;
CC IsoId=Q8NB25-3; Sequence=VSP_039102, VSP_039103;
CC Name=4;
CC IsoId=Q8NB25-4; Sequence=VSP_044520, VSP_007446;
CC -!- SIMILARITY: Belongs to the FAM184 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB14769.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAC03719.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; BX538186; CAD98058.1; -; mRNA.
DR EMBL; AL132874; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL137009; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL365275; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471051; EAW48188.1; -; Genomic_DNA.
DR EMBL; AK024004; BAB14769.1; ALT_INIT; mRNA.
DR EMBL; AK091682; BAC03719.1; ALT_INIT; mRNA.
DR EMBL; BC009055; AAH09055.2; -; mRNA.
DR EMBL; AL136767; CAB66701.1; -; mRNA.
DR CCDS; CCDS43499.1; -. [Q8NB25-1]
DR CCDS; CCDS43500.1; -. [Q8NB25-4]
DR RefSeq; NP_001093881.1; NM_001100411.2. [Q8NB25-4]
DR RefSeq; NP_001275505.1; NM_001288576.1.
DR RefSeq; NP_078857.5; NM_024581.5. [Q8NB25-1]
DR AlphaFoldDB; Q8NB25; -.
DR SMR; Q8NB25; -.
DR BioGRID; 122762; 67.
DR IntAct; Q8NB25; 22.
DR MINT; Q8NB25; -.
DR STRING; 9606.ENSP00000342604; -.
DR iPTMnet; Q8NB25; -.
DR PhosphoSitePlus; Q8NB25; -.
DR SwissPalm; Q8NB25; -.
DR BioMuta; FAM184A; -.
DR DMDM; 209572754; -.
DR EPD; Q8NB25; -.
DR jPOST; Q8NB25; -.
DR MassIVE; Q8NB25; -.
DR MaxQB; Q8NB25; -.
DR PaxDb; Q8NB25; -.
DR PeptideAtlas; Q8NB25; -.
DR PRIDE; Q8NB25; -.
DR ProteomicsDB; 30129; -.
DR ProteomicsDB; 72720; -. [Q8NB25-1]
DR ProteomicsDB; 72721; -. [Q8NB25-2]
DR ProteomicsDB; 72722; -. [Q8NB25-3]
DR Antibodypedia; 32589; 27 antibodies from 9 providers.
DR DNASU; 79632; -.
DR Ensembl; ENST00000338891.12; ENSP00000342604.7; ENSG00000111879.20. [Q8NB25-1]
DR Ensembl; ENST00000352896.9; ENSP00000326608.6; ENSG00000111879.20. [Q8NB25-4]
DR Ensembl; ENST00000521531.5; ENSP00000430442.1; ENSG00000111879.20. [Q8NB25-2]
DR GeneID; 79632; -.
DR KEGG; hsa:79632; -.
DR MANE-Select; ENST00000338891.12; ENSP00000342604.7; NM_024581.6; NP_078857.5.
DR UCSC; uc003pyj.5; human. [Q8NB25-1]
DR CTD; 79632; -.
DR DisGeNET; 79632; -.
DR GeneCards; FAM184A; -.
DR HGNC; HGNC:20991; FAM184A.
DR HPA; ENSG00000111879; Tissue enhanced (brain, choroid plexus).
DR neXtProt; NX_Q8NB25; -.
DR OpenTargets; ENSG00000111879; -.
DR PharmGKB; PA164719768; -.
DR VEuPathDB; HostDB:ENSG00000111879; -.
DR eggNOG; ENOG502R5KC; Eukaryota.
DR GeneTree; ENSGT00530000063669; -.
DR InParanoid; Q8NB25; -.
DR OMA; MCKKVAQ; -.
DR PhylomeDB; Q8NB25; -.
DR TreeFam; TF316006; -.
DR PathwayCommons; Q8NB25; -.
DR SignaLink; Q8NB25; -.
DR BioGRID-ORCS; 79632; 7 hits in 1078 CRISPR screens.
DR ChiTaRS; FAM184A; human.
DR GenomeRNAi; 79632; -.
DR Pharos; Q8NB25; Tdark.
DR PRO; PR:Q8NB25; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q8NB25; protein.
DR Bgee; ENSG00000111879; Expressed in caudate nucleus and 150 other tissues.
DR ExpressionAtlas; Q8NB25; baseline and differential.
DR Genevisible; Q8NB25; HS.
DR GO; GO:0005615; C:extracellular space; HDA:UniProtKB.
DR InterPro; IPR029605; FAM184.
DR InterPro; IPR029607; FAM184A.
DR InterPro; IPR039478; FAM184A/B_N.
DR PANTHER; PTHR18870; PTHR18870; 1.
DR PANTHER; PTHR18870:SF7; PTHR18870:SF7; 1.
DR Pfam; PF15665; FAM184; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Reference proteome.
FT CHAIN 1..1140
FT /note="Protein FAM184A"
FT /id="PRO_0000089512"
FT REGION 1063..1128
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 57..256
FT /evidence="ECO:0000255"
FT COILED 296..800
FT /evidence="ECO:0000255"
FT COILED 868..907
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..120
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_044520"
FT VAR_SEQ 924..972
FT /note="Missing (in isoform 2 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_007446"
FT VAR_SEQ 1012..1046
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_007447"
FT VAR_SEQ 1114..1116
FT /note="SPA -> RYQ (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:11230166"
FT /id="VSP_039102"
FT VAR_SEQ 1117..1140
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:11230166"
FT /id="VSP_039103"
FT VARIANT 174
FT /note="Q -> H (in dbSNP:rs34681930)"
FT /id="VAR_054101"
FT VARIANT 177
FT /note="V -> G (in dbSNP:rs34977570)"
FT /id="VAR_054102"
FT VARIANT 599
FT /note="D -> N (in dbSNP:rs17827619)"
FT /id="VAR_054103"
FT CONFLICT 546
FT /note="N -> D (in Ref. 1; CAD98058)"
FT /evidence="ECO:0000305"
FT CONFLICT 620
FT /note="Missing (in Ref. 4; BAC03719)"
FT /evidence="ECO:0000305"
FT CONFLICT 739
FT /note="Q -> R (in Ref. 4; BAC03719)"
FT /evidence="ECO:0000305"
FT CONFLICT 795
FT /note="F -> L (in Ref. 1; CAD98058)"
FT /evidence="ECO:0000305"
FT CONFLICT 882
FT /note="H -> R (in Ref. 1; CAD98058)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1140 AA; 132965 MW; 6565FD0C349B37E1 CRC64;
MATPGMSWQQ HYYGGSAAKF APSPATAQLA GHSMDYSQEM HLKMSKKIAQ LTKVIYALNT
KNDEHESAIQ ALKDAHEEEI QQILAETREK ILQYKSKVTE ELDLRRKIQV LESSLEDHIK
MKQQALTEFE AYKHRVEDMQ LCAEAQHVQR IVTMSREVEE IRRKFEEKLR SFGQLQVQFE
KDKRLALEDL QAAHRREIQE LLKSQQDHSA SVNKGQEKAE ELHRMEVESL NKMLEELRLE
RKKLIEDYEG KLNKAQSFYE RELDTLKRSQ LFTAESLQAS KEKEADLRKE FQGQEAILRK
TIGKLKTELQ MVQDEAGSLL DKCQKLQTAL AIAENNVQVL QKQLDDAKEG EMALLSKHKE
VESELAAARE RLQQQASDLV LKASHIGMLQ ATQMTQEVTI KDLESEKSRV NERLSQLEEE
RAFLRSKTQS LDEEQKQQIL ELEKKVNEAK RTQQEYYERE LKNLQSRLEE EVTQLNEAHS
KTLEELAWKH HMAIEAVHSN AIRDKKKLQM DLEEQHNKDK LNLEEDKNQL QQELENLKEV
LEDKLNTANQ EIGHLQDMVR KSEQGLGSAE GLIASLQDSQ ERLQNELDLT KDSLKETKDA
LLNVEGELEQ ERQQHEETIA AMKEEEKLKV DKMAHDLEIK WTENLRQECS KLREELRLQH
EEDKKSAMSQ LLQLKDREKN AARDSWQKKV EDLLNQISLL KQNLEIQLSQ SQTSLQQLQA
QFTQERQRLT QELEELEEQH QQRHKSLKEA HVLAFQTMEE EKEKEQRALE NHLQQKHSAE
LQSLKDAHRE SMEGFRIEME QELQTLRFEL EDEGKAMLAS LRSELNHQHA AAIDLLRHNH
HQELAAAKME LERSIDISRR QSKEHICRIT DLQEELRHRE HHISELDKEV QHLHENISAL
TKELEFKGKE ILRIRSESNQ QIRLHEQDLN KRLEKELDVM TADHLREKNI MRADFNKTNE
LLKEINAALQ VSLEEMEEKY LMRESKPEDI QMITELKAML TERDQIIKKL IEDNKFYQLE
LVNRETNFNK VFNSSPTVGV INPLAKQKKK NDKSPTNRFV SVPNLSALES GGVGNGHPNR
LDPIPNSPVH DIEFNSSKPL PQPVPPKGPK TFLSPAQSEA SPVASPDPQR QEWFARYFTF