FAXC_HUMAN
ID FAXC_HUMAN Reviewed; 409 AA.
AC Q5TGI0; B3KU39; Q96F61; Q96LU3; Q9BR58; Q9BSS2;
DT 30-AUG-2005, integrated into UniProtKB/Swiss-Prot.
DT 30-AUG-2005, sequence version 2.
DT 03-AUG-2022, entry version 141.
DE RecName: Full=Failed axon connections homolog;
GN Name=FAXC; Synonyms=C6orf168;
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).
RC TISSUE=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 GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Kidney, 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).
CC -!- FUNCTION: May play a role in axonal development. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q5TGI0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5TGI0-2; Sequence=VSP_056994;
CC -!- SIMILARITY: Belongs to the FAX family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB71576.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK057793; BAB71576.1; ALT_INIT; mRNA.
DR EMBL; AK096480; BAG53301.1; -; mRNA.
DR EMBL; AL034371; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471051; EAW48484.1; -; Genomic_DNA.
DR EMBL; BC004869; AAH04869.2; -; mRNA.
DR EMBL; BC006515; AAH06515.1; -; mRNA.
DR EMBL; BC011583; AAH11583.1; -; mRNA.
DR CCDS; CCDS34500.1; -. [Q5TGI0-1]
DR RefSeq; NP_001333459.1; NM_001346530.1.
DR RefSeq; NP_001333462.1; NM_001346533.1.
DR RefSeq; NP_115900.1; NM_032511.3. [Q5TGI0-1]
DR AlphaFoldDB; Q5TGI0; -.
DR SMR; Q5TGI0; -.
DR BioGRID; 124136; 118.
DR STRING; 9606.ENSP00000374328; -.
DR iPTMnet; Q5TGI0; -.
DR PhosphoSitePlus; Q5TGI0; -.
DR BioMuta; FAXC; -.
DR DMDM; 73917723; -.
DR EPD; Q5TGI0; -.
DR jPOST; Q5TGI0; -.
DR MassIVE; Q5TGI0; -.
DR PaxDb; Q5TGI0; -.
DR PeptideAtlas; Q5TGI0; -.
DR PRIDE; Q5TGI0; -.
DR ProteomicsDB; 65119; -. [Q5TGI0-1]
DR ProteomicsDB; 78744; -.
DR Antibodypedia; 48407; 49 antibodies from 10 providers.
DR DNASU; 84553; -.
DR Ensembl; ENST00000389677.6; ENSP00000374328.4; ENSG00000146267.12. [Q5TGI0-1]
DR Ensembl; ENST00000538471.1; ENSP00000445267.1; ENSG00000146267.12. [Q5TGI0-2]
DR GeneID; 84553; -.
DR KEGG; hsa:84553; -.
DR MANE-Select; ENST00000389677.6; ENSP00000374328.4; NM_032511.4; NP_115900.1.
DR UCSC; uc003ppi.5; human. [Q5TGI0-1]
DR CTD; 84553; -.
DR GeneCards; FAXC; -.
DR HGNC; HGNC:20742; FAXC.
DR HPA; ENSG00000146267; Low tissue specificity.
DR neXtProt; NX_Q5TGI0; -.
DR OpenTargets; ENSG00000146267; -.
DR PharmGKB; PA134918761; -.
DR VEuPathDB; HostDB:ENSG00000146267; -.
DR eggNOG; KOG4244; Eukaryota.
DR GeneTree; ENSGT00950000182919; -.
DR HOGENOM; CLU_044137_2_0_1; -.
DR InParanoid; Q5TGI0; -.
DR OMA; CTDHEQC; -.
DR OrthoDB; 1180930at2759; -.
DR PhylomeDB; Q5TGI0; -.
DR TreeFam; TF314915; -.
DR PathwayCommons; Q5TGI0; -.
DR BioGRID-ORCS; 84553; 13 hits in 1061 CRISPR screens.
DR ChiTaRS; FAXC; human.
DR GenomeRNAi; 84553; -.
DR Pharos; Q5TGI0; Tdark.
DR PRO; PR:Q5TGI0; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q5TGI0; protein.
DR Bgee; ENSG00000146267; Expressed in cortical plate and 127 other tissues.
DR Genevisible; Q5TGI0; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR026928; FAX/IsoI-like.
DR InterPro; IPR045796; FAXC_N.
DR InterPro; IPR036282; Glutathione-S-Trfase_C_sf.
DR InterPro; IPR033468; Metaxin_GST.
DR InterPro; IPR012336; Thioredoxin-like_fold.
DR InterPro; IPR036249; Thioredoxin-like_sf.
DR Pfam; PF19333; FAXC_N; 1.
DR Pfam; PF17171; GST_C_6; 1.
DR Pfam; PF17172; GST_N_4; 1.
DR SFLD; SFLDG01200; SUF1.1; 1.
DR SUPFAM; SSF47616; SSF47616; 1.
DR SUPFAM; SSF52833; SSF52833; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..409
FT /note="Failed axon connections homolog"
FT /id="PRO_0000089556"
FT TRANSMEM 68..88
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 372..409
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 391..409
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..280
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_056994"
SQ SEQUENCE 409 AA; 46843 MW; BD2E4ED4FFB14F31 CRC64;
MHWGVGFASS RPCVVDLSWN QSISFFGWWA GSEEPFSFYG DIIAFPLQDY GGIMAGLGSD
PWWKKTLYLT GGALLAAAAY LLHELLVIRK QQEIDSKDAI ILHQFARPNN GVPSLSPFCL
KMETYLRMAD LPYQNYFGGK LSAQGKMPWI EYNHEKVSGT EFIIDFLEEK LGVNLNKNLG
PHERAISRAV TKMVEEHFYW TLAYCQWVDN LNETRKMLSL SGGGPFSNLL RWVVCHITKG
IVKREMHGHG IGRFSEEEIY MLMEKDMRSL AGLLGDKKYI MGPKLSTLDA TVFGHLAQAM
WTLPGTRPER LIKGELINLA MYCERIRRKF WPEWHHDDDN TIYESEESSE GSKTHTPLLD
FSFYSRTETF EDEGAENSFS RTPDTDFTGH SLFDSDVDMD DYTDHEQCK
