F126B_MOUSE
ID F126B_MOUSE Reviewed; 530 AA.
AC Q8C729; Q3UMY7; Q6NV64;
DT 20-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 122.
DE RecName: Full=Protein FAM126B;
GN Name=Fam126b; Synonyms=D1Ertd53e;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC STRAIN=C57BL/6J; TISSUE=Amnion, Kidney, and Lung;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC STRAIN=C57BL/6J; TISSUE=Embryo;
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 [3]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-306; SER-341; SER-430 AND
RP SER-442, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Brain, Brown adipose tissue, and Kidney;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
RN [4]
RP TISSUE SPECIFICITY.
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:0000250|UniProtKB:Q8IXS8}.
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:0000250|UniProtKB:Q8IXS8}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytosol
CC {ECO:0000250|UniProtKB:Q9BYI3}. Cell membrane
CC {ECO:0000250|UniProtKB:Q9BYI3}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8C729-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8C729-2; Sequence=VSP_035078;
CC -!- TISSUE SPECIFICITY: Expressed in the central nervous system. Expressed
CC at much lower level in oligodendrocytes than in neurons.
CC {ECO:0000269|PubMed:26571211}.
CC -!- SIMILARITY: Belongs to the FAM126 family. {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; AK052638; BAC35073.1; -; mRNA.
DR EMBL; AK144602; BAE25961.1; -; mRNA.
DR EMBL; AK168372; BAE40304.1; -; mRNA.
DR EMBL; BC068302; AAH68302.1; -; mRNA.
DR CCDS; CCDS14976.1; -. [Q8C729-1]
DR CCDS; CCDS78588.1; -. [Q8C729-2]
DR RefSeq; NP_001297527.1; NM_001310598.1. [Q8C729-2]
DR RefSeq; NP_001297528.1; NM_001310599.1. [Q8C729-1]
DR RefSeq; NP_766101.3; NM_172513.3. [Q8C729-1]
DR RefSeq; XP_006495895.1; XM_006495832.2. [Q8C729-2]
DR RefSeq; XP_006495896.1; XM_006495833.2. [Q8C729-2]
DR RefSeq; XP_017175146.1; XM_017319657.1. [Q8C729-1]
DR AlphaFoldDB; Q8C729; -.
DR SMR; Q8C729; -.
DR BioGRID; 229395; 8.
DR STRING; 10090.ENSMUSP00000123728; -.
DR iPTMnet; Q8C729; -.
DR PhosphoSitePlus; Q8C729; -.
DR SwissPalm; Q8C729; -.
DR EPD; Q8C729; -.
DR jPOST; Q8C729; -.
DR MaxQB; Q8C729; -.
DR PaxDb; Q8C729; -.
DR PeptideAtlas; Q8C729; -.
DR PRIDE; Q8C729; -.
DR ProteomicsDB; 275821; -. [Q8C729-1]
DR ProteomicsDB; 275822; -. [Q8C729-2]
DR Antibodypedia; 50921; 51 antibodies from 10 providers.
DR DNASU; 213056; -.
DR Ensembl; ENSMUST00000038372; ENSMUSP00000038718; ENSMUSG00000038174. [Q8C729-1]
DR Ensembl; ENSMUST00000097724; ENSMUSP00000095331; ENSMUSG00000038174. [Q8C729-2]
DR Ensembl; ENSMUST00000161600; ENSMUSP00000123728; ENSMUSG00000038174. [Q8C729-1]
DR GeneID; 213056; -.
DR KEGG; mmu:213056; -.
DR UCSC; uc007bch.2; mouse. [Q8C729-1]
DR UCSC; uc007bcj.2; mouse. [Q8C729-2]
DR CTD; 285172; -.
DR MGI; MGI:1098784; Fam126b.
DR VEuPathDB; HostDB:ENSMUSG00000038174; -.
DR eggNOG; KOG4688; Eukaryota.
DR GeneTree; ENSGT00390000011295; -.
DR HOGENOM; CLU_027457_3_0_1; -.
DR InParanoid; Q8C729; -.
DR OMA; PSIYHEX; -.
DR OrthoDB; 673408at2759; -.
DR PhylomeDB; Q8C729; -.
DR TreeFam; TF317153; -.
DR BioGRID-ORCS; 213056; 1 hit in 71 CRISPR screens.
DR ChiTaRS; Fam126b; mouse.
DR PRO; PR:Q8C729; -.
DR Proteomes; UP000000589; Chromosome 1.
DR RNAct; Q8C729; protein.
DR Bgee; ENSMUSG00000038174; Expressed in lateral geniculate body and 255 other tissues.
DR ExpressionAtlas; Q8C729; baseline and differential.
DR Genevisible; Q8C729; MM.
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 Alternative splicing; Cell membrane; Cytoplasm; Membrane; Phosphoprotein;
KW Reference proteome.
FT CHAIN 1..530
FT /note="Protein FAM126B"
FT /id="PRO_0000278095"
FT REGION 328..404
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 512..530
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 30
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q8IXS8"
FT MOD_RES 306
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:21183079"
FT MOD_RES 321
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8IXS8"
FT MOD_RES 341
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21183079"
FT MOD_RES 430
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21183079"
FT MOD_RES 442
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21183079"
FT MOD_RES 444
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8IXS8"
FT MOD_RES 491
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8IXS8"
FT VAR_SEQ 330
FT /note="E -> EDGFDFSNEADSSIPGSPIQHGSTDLGIKRVQEGEVLVRRTPEHGSP
FT EPTSAAATTE (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_035078"
FT CONFLICT 239
FT /note="Q -> R (in Ref. 2; AAH68302)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 530 AA; 58587 MW; 7C57D7C10D047FD7 CRC64;
MLGSERAVVE EWLSEFKALP DTQITSYAAT LHRKKALVPA LYKVIQDSNN ELLEPVCHQL
FELYRSSEVR LKRFTLQFLP ELIWVYLRLT VSRDRQSNGC IEALLLGIYN LEIADKDGNN
KVLSFTIPSL SKPSIYHEPS TIGSMALTEG ALCQHDLIRV VYSDLHPQRE TFTAQNRFEV
LSFLMLCYNS AIVYMPASSY QSLCRMGSRV CVSGFPRQHE KQWKELCGRI VLDPEFMVQL
LTGVYYAMYN GQWDLGQEVL DDIIYRAQLE LFSQPLLVAN AMKNSLPFDA PDSSQEGQKV
LKVEVTPTVP RISRTAITTA SIRRHRWRRE GAEGLNGGEE SLNMNDADEG FSSGASLSSQ
PHGTKPPSSS QRGSLRKVAT GRSAKDKETA LAIKSNESPR DSVVGKQFVQ QQADLSIDSV
ELTPMKKHLS LPAGQVVPKT NSLSLIRTAS ASSSKSFDYV NGGQASTSIG VGTEGVTNLA
ATNANRYSTI SLQEDRLGHA GEGKELLSPG APLTKQSRSP SFNMQLISQV
