F126B_HUMAN
ID F126B_HUMAN Reviewed; 530 AA.
AC Q8IXS8; B2RCG7; Q4ZG87; Q53TX6;
DT 20-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 133.
DE RecName: Full=Protein FAM126B;
GN Name=FAM126B;
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=Fetal 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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Adipose tissue;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
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 PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-30; THR-306; SER-321;
RP SER-430; SER-442; SER-444 AND SER-491, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-321, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
RN [8]
RP IDENTIFICATION IN THE PI4K COMPLEX.
RX PubMed=26571211; DOI=10.1038/ncb3271;
RA Baskin J.M., Wu X., Christiano R., Oh M.S., Schauder C.M., Gazzerro E.,
RA Messa M., Baldassari S., Assereto S., Biancheri R., Zara F., Minetti C.,
RA Raimondi A., Simons M., Walther T.C., Reinisch K.M., De Camilli P.;
RT "The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis
RT at the plasma membrane.";
RL Nat. Cell Biol. 18:132-138(2016).
CC -!- FUNCTION: Component of a complex required to localize
CC phosphatidylinositol 4-kinase (PI4K) to the plasma membrane.
CC {ECO:0000305|PubMed:26571211}.
CC -!- SUBUNIT: Component of a phosphatidylinositol 4-kinase (PI4K) complex,
CC composed of PI4KA, EFR3 (EFR3A or EFR3B), TTC7 (TTC7A or TTC7B) and
CC FAM126 (FAM126A or FAM126B). {ECO:0000269|PubMed:26571211}.
CC -!- INTERACTION:
CC Q8IXS8; Q08379: GOLGA2; NbExp=3; IntAct=EBI-8787606, EBI-618309;
CC Q8IXS8; P50221: MEOX1; NbExp=3; IntAct=EBI-8787606, EBI-2864512;
CC Q8IXS8; P14373: TRIM27; NbExp=3; IntAct=EBI-8787606, EBI-719493;
CC Q8IXS8; Q86TV6: TTC7B; NbExp=3; IntAct=EBI-8787606, EBI-12006098;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytosol
CC {ECO:0000250|UniProtKB:Q9BYI3}. Cell membrane
CC {ECO:0000250|UniProtKB:Q9BYI3}.
CC -!- SIMILARITY: Belongs to the FAM126 family. {ECO:0000305}.
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DR EMBL; AK315104; BAG37564.1; -; mRNA.
DR EMBL; AL833403; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC005037; AAY14726.1; -; Genomic_DNA.
DR EMBL; AC007272; AAX88971.1; -; Genomic_DNA.
DR EMBL; CH471063; EAW70232.1; -; Genomic_DNA.
DR EMBL; BC039295; AAH39295.1; -; mRNA.
DR CCDS; CCDS2335.1; -.
DR RefSeq; NP_001308547.1; NM_001321618.1.
DR RefSeq; NP_001308548.1; NM_001321619.1.
DR RefSeq; NP_001308550.1; NM_001321621.1.
DR RefSeq; NP_001308551.1; NM_001321622.1.
DR RefSeq; NP_001308556.1; NM_001321627.1.
DR RefSeq; NP_776183.1; NM_173822.4.
DR RefSeq; XP_016859370.1; XM_017003881.1.
DR AlphaFoldDB; Q8IXS8; -.
DR SMR; Q8IXS8; -.
DR BioGRID; 130030; 15.
DR IntAct; Q8IXS8; 11.
DR MINT; Q8IXS8; -.
DR STRING; 9606.ENSP00000393667; -.
DR GlyGen; Q8IXS8; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8IXS8; -.
DR PhosphoSitePlus; Q8IXS8; -.
DR BioMuta; FAM126B; -.
DR DMDM; 74728235; -.
DR EPD; Q8IXS8; -.
DR jPOST; Q8IXS8; -.
DR MassIVE; Q8IXS8; -.
DR MaxQB; Q8IXS8; -.
DR PaxDb; Q8IXS8; -.
DR PeptideAtlas; Q8IXS8; -.
DR PRIDE; Q8IXS8; -.
DR ProteomicsDB; 71059; -.
DR Antibodypedia; 50921; 51 antibodies from 10 providers.
DR DNASU; 285172; -.
DR Ensembl; ENST00000418596.7; ENSP00000393667.2; ENSG00000155744.10.
DR GeneID; 285172; -.
DR KEGG; hsa:285172; -.
DR UCSC; uc002uws.4; human.
DR CTD; 285172; -.
DR DisGeNET; 285172; -.
DR GeneCards; FAM126B; -.
DR HGNC; HGNC:28593; FAM126B.
DR HPA; ENSG00000155744; Low tissue specificity.
DR neXtProt; NX_Q8IXS8; -.
DR OpenTargets; ENSG00000155744; -.
DR PharmGKB; PA162385879; -.
DR VEuPathDB; HostDB:ENSG00000155744; -.
DR eggNOG; KOG4688; Eukaryota.
DR GeneTree; ENSGT00390000011295; -.
DR HOGENOM; CLU_027457_3_0_1; -.
DR InParanoid; Q8IXS8; -.
DR OMA; PSIYHEX; -.
DR OrthoDB; 673408at2759; -.
DR PhylomeDB; Q8IXS8; -.
DR TreeFam; TF317153; -.
DR PathwayCommons; Q8IXS8; -.
DR SignaLink; Q8IXS8; -.
DR BioGRID-ORCS; 285172; 19 hits in 1086 CRISPR screens.
DR ChiTaRS; FAM126B; human.
DR GenomeRNAi; 285172; -.
DR Pharos; Q8IXS8; Tdark.
DR PRO; PR:Q8IXS8; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q8IXS8; protein.
DR Bgee; ENSG00000155744; Expressed in buccal mucosa cell and 190 other tissues.
DR ExpressionAtlas; Q8IXS8; baseline and differential.
DR Genevisible; Q8IXS8; HS.
DR GO; GO:0005829; C:cytosol; IEA:UniProtKB-SubCell.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0046854; P:phosphatidylinositol phosphate biosynthetic process; IBA:GO_Central.
DR GO; GO:0072659; P:protein localization to plasma membrane; IBA:GO_Central.
DR InterPro; IPR018619; Hyccin.
DR PANTHER; PTHR31220; PTHR31220; 1.
DR Pfam; PF09790; Hyccin; 1.
PE 1: Evidence at protein level;
KW Cell membrane; Cytoplasm; Membrane; Phosphoprotein; Reference proteome.
FT CHAIN 1..530
FT /note="Protein FAM126B"
FT /id="PRO_0000278094"
FT REGION 328..410
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 502..530
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 346..377
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 379..394
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 395..410
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 512..530
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 30
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 306
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 321
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163,
FT ECO:0007744|PubMed:24275569"
FT MOD_RES 341
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8C729"
FT MOD_RES 430
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 442
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 444
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 491
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
SQ SEQUENCE 530 AA; 58647 MW; FD448E6AAB39D5AC CRC64;
MLGTDRCVVE EWLSEFKALP DTQITSYAAT LHRKKTLVPA LYKVIQDSNN ELLEPVCHQL
FELYRSSEVR LKRFTLQFLP ELMWVYLRLT VSRDRQSNGC IEALLLGIYN LEIADKDGNN
KVLSFTIPSL SKPSIYHEPS TIGSMALTEG ALCQHDLIRV VYSDLHPQRE TFTAQNRFEV
LSFLMLCYNS AIVYMPASSY QSLCRMGSRV CVSGFPRQHE KHWKELCGRI VLDPEFMVQL
LTGVYYAMYN GQWDLGQEVL DDIIYRAQLE LFSQPLLVAN AMKNSLPFDA PDSTQEGQKV
LKVEVTPTVP RISRTAITTA SIRRHRWRRE GAEGVNGGEE SVNLNDADEG FSSGASLSSQ
PIGTKPSSSS QRGSLRKVAT GRSAKDKETA SAIKSSESPR DSVVRKQYVQ QPTDLSVDSV
ELTPMKKHLS LPAGQVVPKI NSLSLIRTAS ASSSKSFDYV NGSQASTSIG VGTEGGTNLA
ANNANRYSTV SLQEDRLGQA GEGKELLSPG APLTKQSRSP SFNMQLISQV
