F86C1_HUMAN
ID F86C1_HUMAN Reviewed; 165 AA.
AC Q9NVL1; Q8N5D3;
DT 23-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 30-NOV-2010, sequence version 3.
DT 03-AUG-2022, entry version 124.
DE RecName: Full=Putative protein FAM86C1P;
DE EC=2.1.1.- {ECO:0000250|UniProtKB:P47163};
DE AltName: Full=Protein FAM86C;
GN Name=FAM86C1P {ECO:0000312|HGNC:HGNC:25561}; Synonyms=FAM86C, FAM86C1;
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 1), AND VARIANTS SER-7;
RP PRO-30 AND ALA-70.
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], AND VARIANT ALA-70.
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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 [4]
RP INTERACTION WITH EEF2KMT.
RX PubMed=23349634; DOI=10.1371/journal.pgen.1003210;
RA Cloutier P., Lavallee-Adam M., Faubert D., Blanchette M., Coulombe B.;
RT "A newly uncovered group of distantly related lysine methyltransferases
RT preferentially interact with molecular chaperones to regulate their
RT activity.";
RL PLoS Genet. 9:E1003210-E1003210(2013).
CC -!- SUBUNIT: Interacts with EEF2KMT. {ECO:0000269|PubMed:23349634}.
CC -!- INTERACTION:
CC Q9NVL1; Q13077: TRAF1; NbExp=3; IntAct=EBI-751617, EBI-359224;
CC Q9NVL1-2; Q49AR9: ANKS1A; NbExp=3; IntAct=EBI-12845222, EBI-11954519;
CC Q9NVL1-2; O75934: BCAS2; NbExp=3; IntAct=EBI-12845222, EBI-1050106;
CC Q9NVL1-2; Q9NX04: C1orf109; NbExp=3; IntAct=EBI-12845222, EBI-8643161;
CC Q9NVL1-2; P55273: CDKN2D; NbExp=3; IntAct=EBI-12845222, EBI-745859;
CC Q9NVL1-2; Q86X02: CDR2L; NbExp=3; IntAct=EBI-12845222, EBI-11063830;
CC Q9NVL1-2; P27658: COL8A1; NbExp=5; IntAct=EBI-12845222, EBI-747133;
CC Q9NVL1-2; Q9BSW2: CRACR2A; NbExp=3; IntAct=EBI-12845222, EBI-739773;
CC Q9NVL1-2; P67870: CSNK2B; NbExp=3; IntAct=EBI-12845222, EBI-348169;
CC Q9NVL1-2; Q8WZ74: CTTNBP2; NbExp=3; IntAct=EBI-12845222, EBI-1774260;
CC Q9NVL1-2; Q6PKX4: DOK6; NbExp=3; IntAct=EBI-12845222, EBI-2880244;
CC Q9NVL1-2; Q9Y4H4: GPSM3; NbExp=5; IntAct=EBI-12845222, EBI-347538;
CC Q9NVL1-2; P52597: HNRNPF; NbExp=3; IntAct=EBI-12845222, EBI-352986;
CC Q9NVL1-2; Q7Z3Y9: KRT26; NbExp=3; IntAct=EBI-12845222, EBI-12084444;
CC Q9NVL1-2; Q16719-2: KYNU; NbExp=3; IntAct=EBI-12845222, EBI-12351611;
CC Q9NVL1-2; Q96JG8: MAGED4; NbExp=3; IntAct=EBI-12845222, EBI-721864;
CC Q9NVL1-2; Q92824-2: PCSK5; NbExp=3; IntAct=EBI-12845222, EBI-11956269;
CC Q9NVL1-2; Q12837: POU4F2; NbExp=5; IntAct=EBI-12845222, EBI-17236143;
CC Q9NVL1-2; P21673: SAT1; NbExp=3; IntAct=EBI-12845222, EBI-711613;
CC Q9NVL1-2; Q8NB12: SMYD1; NbExp=3; IntAct=EBI-12845222, EBI-8463848;
CC Q9NVL1-2; Q9NZD8: SPG21; NbExp=3; IntAct=EBI-12845222, EBI-742688;
CC Q9NVL1-2; O95231: VENTX; NbExp=3; IntAct=EBI-12845222, EBI-10191303;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9NVL1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9NVL1-2; Sequence=VSP_028752;
CC Name=3;
CC IsoId=Q9NVL1-3; Sequence=VSP_042069;
CC -!- SIMILARITY: Belongs to the class I-like SAM-binding methyltransferase
CC superfamily. EEF2KMT family. {ECO:0000305}.
CC -!- CAUTION: Could be the product of a pseudogene. {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; AK001523; BAA91739.1; -; mRNA.
DR EMBL; AP002495; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC032519; AAH32519.1; -; mRNA.
DR RefSeq; NP_001093123.1; NM_001099653.1.
DR RefSeq; NP_060642.2; NM_018172.2.
DR RefSeq; NP_689776.1; NM_152563.2.
DR AlphaFoldDB; Q9NVL1; -.
DR SMR; Q9NVL1; -.
DR BioGRID; 120496; 34.
DR IntAct; Q9NVL1; 22.
DR STRING; 9606.ENSP00000352182; -.
DR iPTMnet; Q9NVL1; -.
DR PhosphoSitePlus; Q9NVL1; -.
DR BioMuta; FAM86C1; -.
DR DMDM; 313104234; -.
DR jPOST; Q9NVL1; -.
DR MassIVE; Q9NVL1; -.
DR MaxQB; Q9NVL1; -.
DR PaxDb; Q9NVL1; -.
DR PeptideAtlas; Q9NVL1; -.
DR PRIDE; Q9NVL1; -.
DR DNASU; 55199; -.
DR GeneID; 55199; -.
DR UCSC; uc001oqv.5; human. [Q9NVL1-1]
DR CTD; 55199; -.
DR DisGeNET; 55199; -.
DR GeneCards; FAM86C1P; -.
DR HGNC; HGNC:25561; FAM86C1P.
DR MIM; 616124; gene.
DR neXtProt; NX_Q9NVL1; -.
DR eggNOG; KOG2497; Eukaryota.
DR HOGENOM; CLU_141101_0_0_1; -.
DR InParanoid; Q9NVL1; -.
DR OrthoDB; 958308at2759; -.
DR PhylomeDB; Q9NVL1; -.
DR PathwayCommons; Q9NVL1; -.
DR SignaLink; Q9NVL1; -.
DR BioGRID-ORCS; 55199; 99 hits in 1003 CRISPR screens.
DR ChiTaRS; FAM86C1; human.
DR GenomeRNAi; 55199; -.
DR Pharos; Q9NVL1; Tdark.
DR PRO; PR:Q9NVL1; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q9NVL1; protein.
DR Genevisible; Q9NVL1; HS.
DR GO; GO:0032991; C:protein-containing complex; IDA:UniProtKB.
DR GO; GO:0018064; F:protein-L-histidine N-tele-methyltransferase activity; IBA:GO_Central.
DR GO; GO:0042038; P:peptidyl-histidine methylation, to form tele-methylhistidine; IBA:GO_Central.
DR InterPro; IPR029426; FAM86_N.
DR InterPro; IPR019410; Methyltransf_16.
DR PANTHER; PTHR14614; PTHR14614; 2.
DR Pfam; PF14904; FAM86; 1.
PE 5: Uncertain;
KW Alternative splicing; Methyltransferase; Reference proteome;
KW S-adenosyl-L-methionine; Transferase.
FT CHAIN 1..165
FT /note="Putative protein FAM86C1P"
FT /id="PRO_0000307640"
FT VAR_SEQ 53..87
FT /note="KHEAVHTEPLDELYEVLVETLMAKESTQGHRSYLL -> KTVKHPVCVKHPP
FT SVKYARCFLSELIKK (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_042069"
FT VAR_SEQ 54..87
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_028752"
FT VARIANT 7
FT /note="A -> S (in dbSNP:rs12283300)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_036619"
FT VARIANT 30
FT /note="R -> P (in dbSNP:rs12283346)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_036620"
FT VARIANT 70
FT /note="V -> A (in dbSNP:rs3935309)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:16554811"
FT /id="VAR_036621"
FT VARIANT 135
FT /note="P -> L (in dbSNP:rs57679800)"
FT /id="VAR_062211"
SQ SEQUENCE 165 AA; 18454 MW; 19EA49662C5B4B51 CRC64;
MAPEENAGSE LLLQSFKRRF LAARALRSFR WQSLEAKLRD SSDSELLRDI LQKHEAVHTE
PLDELYEVLV ETLMAKESTQ GHRSYLLTCC IAQKPSCRWS GSCGGWLPAG STSGLLNSTW
PLPSATQRCA SCSPPSYAGL GSDGKRKLIM TRNCFPTEST WRWQS
