F219A_HUMAN
ID F219A_HUMAN Reviewed; 185 AA.
AC Q8IW50; A2A364; B4DFE1; B4DSR8; Q5T590; Q5T591; Q5T592; Q5T594; Q5T595;
AC Q8TAZ8;
DT 16-AUG-2005, integrated into UniProtKB/Swiss-Prot.
DT 14-OCT-2008, sequence version 3.
DT 03-AUG-2022, entry version 135.
DE RecName: Full=Protein FAM219A;
GN Name=FAM219A; Synonyms=C9orf25;
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 7).
RG The Cancer Genome Anatomy Project (CGAP) at the National Cancer Institute;
RL Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2; 4 AND 6).
RC TISSUE=Brain, Cerebellum, and Teratocarcinoma;
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 [3]
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 [4]
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 113-185 (ISOFORM 2).
RC TISSUE=Brain;
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 IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=17081983; DOI=10.1016/j.cell.2006.09.026;
RA Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.;
RT "Global, in vivo, and site-specific phosphorylation dynamics in signaling
RT networks.";
RL Cell 127:635-648(2006).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-47; SER-102; THR-113; SER-115
RP AND SER-122, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE
RP 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 THR-113 AND SER-115, AND
RP IDENTIFICATION BY 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 THR-113 AND SER-115, AND
RP IDENTIFICATION BY 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).
RN [11]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, AND IDENTIFICATION BY MASS
RP 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).
CC -!- INTERACTION:
CC Q8IW50-3; P0CW20: LIMS4; NbExp=3; IntAct=EBI-13358054, EBI-10196832;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=7;
CC Name=1;
CC IsoId=Q8IW50-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8IW50-2; Sequence=VSP_035492, VSP_035493;
CC Name=3;
CC IsoId=Q8IW50-3; Sequence=VSP_035492, VSP_035493, VSP_035496;
CC Name=4;
CC IsoId=Q8IW50-4; Sequence=VSP_035492, VSP_035496;
CC Name=5;
CC IsoId=Q8IW50-5; Sequence=VSP_035493, VSP_035496;
CC Name=6;
CC IsoId=Q8IW50-6; Sequence=VSP_035493;
CC Name=7;
CC IsoId=Q8IW50-7; Sequence=VSP_035494, VSP_035495;
CC -!- SIMILARITY: Belongs to the FAM219 family. {ECO:0000305}.
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DR EMBL; AI953059; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AK096350; BAG53270.1; -; mRNA.
DR EMBL; AK123887; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AK294054; BAG57402.1; -; mRNA.
DR EMBL; AK299882; BAG61730.1; -; mRNA.
DR EMBL; AL160270; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL356494; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471071; EAW58454.1; -; Genomic_DNA.
DR EMBL; BC025348; AAH25348.1; -; mRNA.
DR EMBL; BC041009; AAH41009.1; -; mRNA.
DR CCDS; CCDS55304.1; -. [Q8IW50-1]
DR CCDS; CCDS6556.1; -. [Q8IW50-6]
DR RefSeq; NP_001171869.1; NM_001184940.1. [Q8IW50-1]
DR RefSeq; NP_001171870.1; NM_001184941.1.
DR RefSeq; NP_001171871.1; NM_001184942.1. [Q8IW50-4]
DR RefSeq; NP_001171872.1; NM_001184943.1. [Q8IW50-5]
DR RefSeq; NP_001171874.1; NM_001184945.1. [Q8IW50-3]
DR RefSeq; NP_671735.1; NM_147202.1. [Q8IW50-6]
DR RefSeq; XP_011516100.1; XM_011517798.2.
DR AlphaFoldDB; Q8IW50; -.
DR BioGRID; 128461; 51.
DR IntAct; Q8IW50; 31.
DR MINT; Q8IW50; -.
DR STRING; 9606.ENSP00000392452; -.
DR iPTMnet; Q8IW50; -.
DR PhosphoSitePlus; Q8IW50; -.
DR SwissPalm; Q8IW50; -.
DR BioMuta; FAM219A; -.
DR DMDM; 209572756; -.
DR EPD; Q8IW50; -.
DR jPOST; Q8IW50; -.
DR MassIVE; Q8IW50; -.
DR MaxQB; Q8IW50; -.
DR PaxDb; Q8IW50; -.
DR PeptideAtlas; Q8IW50; -.
DR PRIDE; Q8IW50; -.
DR ProteomicsDB; 70811; -. [Q8IW50-1]
DR ProteomicsDB; 70812; -. [Q8IW50-2]
DR ProteomicsDB; 70813; -. [Q8IW50-3]
DR ProteomicsDB; 70814; -. [Q8IW50-4]
DR ProteomicsDB; 70815; -. [Q8IW50-5]
DR ProteomicsDB; 70816; -. [Q8IW50-6]
DR ProteomicsDB; 70817; -. [Q8IW50-7]
DR Antibodypedia; 11236; 79 antibodies from 16 providers.
DR DNASU; 203259; -.
DR Ensembl; ENST00000297620.8; ENSP00000297620.4; ENSG00000164970.15. [Q8IW50-6]
DR Ensembl; ENST00000445726.5; ENSP00000392452.1; ENSG00000164970.15. [Q8IW50-1]
DR Ensembl; ENST00000651358.1; ENSP00000499069.1; ENSG00000164970.15. [Q8IW50-1]
DR GeneID; 203259; -.
DR KEGG; hsa:203259; -.
DR MANE-Select; ENST00000651358.1; ENSP00000499069.1; NM_001184940.2; NP_001171869.1.
DR UCSC; uc003zuj.4; human. [Q8IW50-1]
DR CTD; 203259; -.
DR DisGeNET; 203259; -.
DR GeneCards; FAM219A; -.
DR HGNC; HGNC:19920; FAM219A.
DR HPA; ENSG00000164970; Tissue enhanced (brain).
DR neXtProt; NX_Q8IW50; -.
DR OpenTargets; ENSG00000164970; -.
DR PharmGKB; PA134916501; -.
DR VEuPathDB; HostDB:ENSG00000164970; -.
DR eggNOG; ENOG502QS86; Eukaryota.
DR GeneTree; ENSGT00390000000860; -.
DR InParanoid; Q8IW50; -.
DR OMA; PKKNTVM; -.
DR OrthoDB; 1299495at2759; -.
DR PhylomeDB; Q8IW50; -.
DR TreeFam; TF331928; -.
DR PathwayCommons; Q8IW50; -.
DR SignaLink; Q8IW50; -.
DR BioGRID-ORCS; 203259; 36 hits in 1080 CRISPR screens.
DR ChiTaRS; FAM219A; human.
DR GenomeRNAi; 203259; -.
DR Pharos; Q8IW50; Tdark.
DR PRO; PR:Q8IW50; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q8IW50; protein.
DR Bgee; ENSG00000164970; Expressed in ventricular zone and 171 other tissues.
DR ExpressionAtlas; Q8IW50; baseline and differential.
DR Genevisible; Q8IW50; HS.
DR InterPro; IPR029339; FAM219.
DR PANTHER; PTHR31281; PTHR31281; 1.
DR Pfam; PF15260; FAM219A; 1.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Phosphoprotein; Reference proteome.
FT CHAIN 1..185
FT /note="Protein FAM219A"
FT /id="PRO_0000089676"
FT REGION 1..131
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 68..83
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 107..121
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 1
FT /note="N-acetylmethionine"
FT /evidence="ECO:0007744|PubMed:22814378"
FT MOD_RES 47
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648"
FT MOD_RES 72
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9D772"
FT MOD_RES 102
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648"
FT MOD_RES 113
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:21406692"
FT MOD_RES 115
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:21406692"
FT MOD_RES 122
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648"
FT VAR_SEQ 10..20
FT /note="Missing (in isoform 2, isoform 3 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_035492"
FT VAR_SEQ 37..53
FT /note="Missing (in isoform 2, isoform 3, isoform 5 and
FT isoform 6)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_035493"
FT VAR_SEQ 115..169
FT /note="SDDDFDMSRYSSSGYSSAEQINQDLNIQLLKDGYRLDEIPDDEDLDLIPPKS
FT VNP -> RCVWGLGGSWAAQRNLYSTSGLYRPHLLYCQNWDILQPESLQG (in
FT isoform 7)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_035494"
FT VAR_SEQ 134
FT /note="Missing (in isoform 3, isoform 4 and isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_035496"
FT VAR_SEQ 170..185
FT /note="Missing (in isoform 7)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_035495"
FT CONFLICT 123
FT /note="R -> G (in Ref. 2; AK123887)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 185 AA; 20400 MW; 114C59F2A3307D1E CRC64;
MMEEIDRFQV PTAHSEMQPL DPAAASISDG DCDAREGESV AMNYKPSPLQ VKLEKQRELA
RKGSLKNGSM GSPVNQQPKK NNVMARTRLV VPNKGYSSLD QSPDEKPLVA LDTDSDDDFD
MSRYSSSGYS SAEQINQDLN IQLLKDGYRL DEIPDDEDLD LIPPKSVNPT CMCCQATSST
ACHIQ
