FXDC2_HUMAN
ID FXDC2_HUMAN Reviewed; 333 AA.
AC Q96IV6; B4DIE1; Q9BSX6; Q9H8C7;
DT 19-SEP-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 144.
DE RecName: Full=Fatty acid hydroxylase domain-containing protein 2;
GN Name=FAXDC2; Synonyms=C5orf4;
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 2), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 1-191 (ISOFORM 1).
RC TISSUE=Hippocampus, and Placenta;
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].
RX PubMed=15372022; DOI=10.1038/nature02919;
RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT "The DNA sequence and comparative analysis of human chromosome 5.";
RL Nature 431:268-274(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Ovary, and Skin;
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 FUNCTION, INDUCTION, SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=27689744; DOI=10.1038/bcj.2016.87;
RA Jin Q., Ren Y., Wang M., Suraneni P.K., Li D., Crispino J.D., Fan J.,
RA Huang Z.;
RT "Novel function of FAXDC2 in megakaryopoiesis.";
RL Blood Cancer J. 6:E478-E478(2016).
CC -!- FUNCTION: Promotes megakaryocyte differentiation by enhancing ERK
CC phosphorylation and up-regulating RUNX1 expression.
CC {ECO:0000269|PubMed:27689744}.
CC -!- INTERACTION:
CC Q96IV6; Q13520: AQP6; NbExp=3; IntAct=EBI-12142299, EBI-13059134;
CC Q96IV6; Q3SXY8: ARL13B; NbExp=3; IntAct=EBI-12142299, EBI-11343438;
CC Q96IV6; P11912: CD79A; NbExp=3; IntAct=EBI-12142299, EBI-7797864;
CC Q96IV6; Q99675: CGRRF1; NbExp=3; IntAct=EBI-12142299, EBI-2130213;
CC Q96IV6; O95471: CLDN7; NbExp=3; IntAct=EBI-12142299, EBI-740744;
CC Q96IV6; Q96BA8: CREB3L1; NbExp=3; IntAct=EBI-12142299, EBI-6942903;
CC Q96IV6; P00387: CYB5R3; NbExp=3; IntAct=EBI-12142299, EBI-1046040;
CC Q96IV6; Q15125: EBP; NbExp=3; IntAct=EBI-12142299, EBI-3915253;
CC Q96IV6; Q9GZR5: ELOVL4; NbExp=3; IntAct=EBI-12142299, EBI-18535450;
CC Q96IV6; Q9Y282: ERGIC3; NbExp=3; IntAct=EBI-12142299, EBI-781551;
CC Q96IV6; O15552: FFAR2; NbExp=3; IntAct=EBI-12142299, EBI-2833872;
CC Q96IV6; Q6ZVE7: GOLT1A; NbExp=3; IntAct=EBI-12142299, EBI-17231387;
CC Q96IV6; Q8TDT2: GPR152; NbExp=3; IntAct=EBI-12142299, EBI-13345167;
CC Q96IV6; Q8TED1: GPX8; NbExp=3; IntAct=EBI-12142299, EBI-11721746;
CC Q96IV6; Q7Z5P4: HSD17B13; NbExp=3; IntAct=EBI-12142299, EBI-18053395;
CC Q96IV6; O14880: MGST3; NbExp=3; IntAct=EBI-12142299, EBI-724754;
CC Q96IV6; O14524-2: NEMP1; NbExp=3; IntAct=EBI-12142299, EBI-10969203;
CC Q96IV6; Q96RD7: PANX1; NbExp=3; IntAct=EBI-12142299, EBI-7037612;
CC Q96IV6; O15173: PGRMC2; NbExp=3; IntAct=EBI-12142299, EBI-1050125;
CC Q96IV6; Q86VR2: RETREG3; NbExp=3; IntAct=EBI-12142299, EBI-10192441;
CC Q96IV6; Q14973: SLC10A1; NbExp=3; IntAct=EBI-12142299, EBI-3923031;
CC Q96IV6; Q3KNW5: SLC10A6; NbExp=3; IntAct=EBI-12142299, EBI-18159983;
CC Q96IV6; Q8IWU4: SLC30A8; NbExp=3; IntAct=EBI-12142299, EBI-10262251;
CC Q96IV6; P27105: STOM; NbExp=3; IntAct=EBI-12142299, EBI-1211440;
CC Q96IV6; Q12846: STX4; NbExp=3; IntAct=EBI-12142299, EBI-744942;
CC Q96IV6; Q9BVX2: TMEM106C; NbExp=3; IntAct=EBI-12142299, EBI-2821497;
CC Q96IV6; Q8IV31: TMEM139; NbExp=3; IntAct=EBI-12142299, EBI-7238458;
CC Q96IV6; Q8N661: TMEM86B; NbExp=3; IntAct=EBI-12142299, EBI-2548832;
CC Q96IV6; O15393-2: TMPRSS2; NbExp=3; IntAct=EBI-12142299, EBI-12345267;
CC Q96IV6; Q9Y320: TMX2; NbExp=3; IntAct=EBI-12142299, EBI-6447886;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:27689744}. Membrane
CC {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96IV6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96IV6-2; Sequence=VSP_056995;
CC -!- TISSUE SPECIFICITY: Down-regulated in primary acute myeloid leukemia
CC (AML) patients. {ECO:0000269|PubMed:27689744}.
CC -!- INDUCTION: Up-regulated during 12-O-tetradecanoyl phorbol-acetate
CC (TPA)-induced megakaryocytic differentiation of K562 cells.
CC {ECO:0000269|PubMed:27689744}.
CC -!- SIMILARITY: Belongs to the sterol desaturase family. {ECO:0000305}.
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DR EMBL; AK023820; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AK295546; BAG58453.1; -; mRNA.
DR EMBL; AC112169; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC004506; AAH04506.2; -; mRNA.
DR EMBL; BC007216; AAH07216.1; -; mRNA.
DR CCDS; CCDS43390.1; -. [Q96IV6-1]
DR RefSeq; NP_115761.2; NM_032385.4. [Q96IV6-1]
DR RefSeq; XP_006714816.1; XM_006714753.2. [Q96IV6-1]
DR RefSeq; XP_016864454.1; XM_017008965.1. [Q96IV6-1]
DR AlphaFoldDB; Q96IV6; -.
DR BioGRID; 116039; 35.
DR IntAct; Q96IV6; 30.
DR STRING; 9606.ENSP00000320604; -.
DR iPTMnet; Q96IV6; -.
DR PhosphoSitePlus; Q96IV6; -.
DR BioMuta; FAXDC2; -.
DR DMDM; 74751947; -.
DR MassIVE; Q96IV6; -.
DR PaxDb; Q96IV6; -.
DR PeptideAtlas; Q96IV6; -.
DR PRIDE; Q96IV6; -.
DR Antibodypedia; 8145; 73 antibodies from 18 providers.
DR DNASU; 10826; -.
DR Ensembl; ENST00000326080.10; ENSP00000320604.5; ENSG00000170271.11. [Q96IV6-1]
DR Ensembl; ENST00000517938.5; ENSP00000430286.1; ENSG00000170271.11. [Q96IV6-2]
DR GeneID; 10826; -.
DR KEGG; hsa:10826; -.
DR MANE-Select; ENST00000326080.10; ENSP00000320604.5; NM_032385.5; NP_115761.2.
DR UCSC; uc003lvs.5; human. [Q96IV6-1]
DR CTD; 10826; -.
DR DisGeNET; 10826; -.
DR GeneCards; FAXDC2; -.
DR HGNC; HGNC:1334; FAXDC2.
DR HPA; ENSG00000170271; Tissue enhanced (parathyroid).
DR MIM; 619853; gene.
DR neXtProt; NX_Q96IV6; -.
DR OpenTargets; ENSG00000170271; -.
DR PharmGKB; PA25915; -.
DR VEuPathDB; HostDB:ENSG00000170271; -.
DR eggNOG; KOG0873; Eukaryota.
DR GeneTree; ENSGT00940000157328; -.
DR HOGENOM; CLU_047036_1_1_1; -.
DR InParanoid; Q96IV6; -.
DR OMA; QYAHPIE; -.
DR OrthoDB; 1321777at2759; -.
DR PhylomeDB; Q96IV6; -.
DR TreeFam; TF313020; -.
DR PathwayCommons; Q96IV6; -.
DR SignaLink; Q96IV6; -.
DR BioGRID-ORCS; 10826; 9 hits in 1071 CRISPR screens.
DR ChiTaRS; FAXDC2; human.
DR GenomeRNAi; 10826; -.
DR Pharos; Q96IV6; Tdark.
DR PRO; PR:Q96IV6; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q96IV6; protein.
DR Bgee; ENSG00000170271; Expressed in inferior vagus X ganglion and 206 other tissues.
DR ExpressionAtlas; Q96IV6; baseline and differential.
DR Genevisible; Q96IV6; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IBA:GO_Central.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0016020; C:membrane; IBA:GO_Central.
DR GO; GO:0000254; F:C-4 methylsterol oxidase activity; IBA:GO_Central.
DR GO; GO:0005506; F:iron ion binding; IEA:InterPro.
DR GO; GO:0016491; F:oxidoreductase activity; IBA:GO_Central.
DR GO; GO:0045654; P:positive regulation of megakaryocyte differentiation; IMP:UniProtKB.
DR GO; GO:0001934; P:positive regulation of protein phosphorylation; IMP:UniProtKB.
DR GO; GO:0016126; P:sterol biosynthetic process; IBA:GO_Central.
DR InterPro; IPR006694; Fatty_acid_hydroxylase.
DR Pfam; PF04116; FA_hydroxylase; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Membrane; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..333
FT /note="Fatty acid hydroxylase domain-containing protein 2"
FT /id="PRO_0000249848"
FT TRANSMEM 29..49
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 77..97
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 134..154
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 168..188
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 215..235
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 237..257
FT /note="Helical"
FT /evidence="ECO:0000255"
FT DOMAIN 176..299
FT /note="Fatty acid hydroxylase"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..23
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_056995"
FT VARIANT 133
FT /note="R -> H (in dbSNP:rs17641488)"
FT /id="VAR_048900"
SQ SEQUENCE 333 AA; 39002 MW; 48914C18C2D92CE3 CRC64;
MKGEAGHMLH NEKSKQEGHI WGSMRRTAFI LGSGLLSFVA FWNSVTWHLQ RFWGASGYFW
QAQWERLLTT FEGKEWILFF IGAIQVPCLF FWSFNGLLLV VDTTGKPNFI SRYRIQVGKN
EPVDPVKLRQ SIRTVLFNQC MISFPMVVFL YPFLKWWRDP CRRELPTFHW FLLELAIFTL
IEEVLFYYSH RLLHHPTFYK KIHKKHHEWT APIGVISLYA HPIEHAVSNM LPVIVGPLVM
GSHLSSITMW FSLALIITTI SHCGYHLPFL PSPEFHDYHH LKFNQCYGVL GVLDHLHGTD
TMFKQTKAYE RHVLLLGFTP LSESIPDSPK RME
