FA78A_HUMAN
ID FA78A_HUMAN Reviewed; 283 AA.
AC Q5JUQ0; Q86VQ9; Q9H7P4;
DT 12-DEC-2006, integrated into UniProtKB/Swiss-Prot.
DT 15-FEB-2005, sequence version 1.
DT 03-AUG-2022, entry version 109.
DE RecName: Full=Protein FAM78A;
GN Name=FAM78A; Synonyms=C9orf59;
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 GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 89-283.
RC TISSUE=Spleen;
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).
CC -!- INTERACTION:
CC Q5JUQ0; P42858: HTT; NbExp=3; IntAct=EBI-21900888, EBI-466029;
CC Q5JUQ0; Q7Z412: PEX26; NbExp=3; IntAct=EBI-21900888, EBI-752057;
CC Q5JUQ0; D3DTS7: PMP22; NbExp=3; IntAct=EBI-21900888, EBI-25882629;
CC -!- SIMILARITY: Belongs to the FAM78 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH49388.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AL157938; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC049388; AAH49388.1; ALT_INIT; mRNA.
DR EMBL; AK024434; BAB15724.1; -; mRNA.
DR CCDS; CCDS6941.2; -.
DR RefSeq; NP_203745.2; NM_033387.3.
DR AlphaFoldDB; Q5JUQ0; -.
DR BioGRID; 130355; 4.
DR IntAct; Q5JUQ0; 4.
DR STRING; 9606.ENSP00000361345; -.
DR iPTMnet; Q5JUQ0; -.
DR PhosphoSitePlus; Q5JUQ0; -.
DR SwissPalm; Q5JUQ0; -.
DR BioMuta; FAM78A; -.
DR DMDM; 74742326; -.
DR EPD; Q5JUQ0; -.
DR MassIVE; Q5JUQ0; -.
DR PaxDb; Q5JUQ0; -.
DR PeptideAtlas; Q5JUQ0; -.
DR PRIDE; Q5JUQ0; -.
DR ProteomicsDB; 63285; -.
DR Antibodypedia; 18087; 120 antibodies from 19 providers.
DR DNASU; 286336; -.
DR Ensembl; ENST00000372271.4; ENSP00000361345.3; ENSG00000126882.13.
DR GeneID; 286336; -.
DR KEGG; hsa:286336; -.
DR MANE-Select; ENST00000372271.4; ENSP00000361345.3; NM_033387.4; NP_203745.2.
DR UCSC; uc004cak.4; human.
DR CTD; 286336; -.
DR GeneCards; FAM78A; -.
DR HGNC; HGNC:25465; FAM78A.
DR HPA; ENSG00000126882; Tissue enhanced (skeletal muscle, testis).
DR neXtProt; NX_Q5JUQ0; -.
DR OpenTargets; ENSG00000126882; -.
DR PharmGKB; PA134970135; -.
DR VEuPathDB; HostDB:ENSG00000126882; -.
DR eggNOG; ENOG502QPXK; Eukaryota.
DR GeneTree; ENSGT00390000018059; -.
DR HOGENOM; CLU_085745_0_0_1; -.
DR InParanoid; Q5JUQ0; -.
DR OMA; YGDQGMS; -.
DR OrthoDB; 1568647at2759; -.
DR PhylomeDB; Q5JUQ0; -.
DR TreeFam; TF329533; -.
DR PathwayCommons; Q5JUQ0; -.
DR SignaLink; Q5JUQ0; -.
DR BioGRID-ORCS; 286336; 20 hits in 1082 CRISPR screens.
DR ChiTaRS; FAM78A; human.
DR GenomeRNAi; 286336; -.
DR Pharos; Q5JUQ0; Tdark.
DR PRO; PR:Q5JUQ0; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q5JUQ0; protein.
DR Bgee; ENSG00000126882; Expressed in granulocyte and 174 other tissues.
DR ExpressionAtlas; Q5JUQ0; baseline and differential.
DR Genevisible; Q5JUQ0; HS.
DR InterPro; IPR029638; FAM78.
DR InterPro; IPR029640; FAM78A.
DR PANTHER; PTHR31655; PTHR31655; 1.
DR PANTHER; PTHR31655:SF3; PTHR31655:SF3; 1.
PE 1: Evidence at protein level;
KW Reference proteome.
FT CHAIN 1..283
FT /note="Protein FAM78A"
FT /id="PRO_0000265112"
SQ SEQUENCE 283 AA; 31968 MW; 45EF1D53B5E7EE4F CRC64;
MPGFFCDCWP SLEIRALLYA MGCIQSIGGK ARVFREGITV IDVKASIDPV PTSIDESSSV
VLRYRTPHFR ASAQVVMPPI PKKETWVVGW IQACSHMEFY NQYGEQGMSS WELPDLQEGK
IQAISDSDGV NYPWYGNTTE TCTIVGPTKR DSKFIISMND NFYPSVTWAV PVSESNVAKL
TNIYRDQSFT TWLVATNTST NDMIILQTLH WRMQLSIEVN PNRPLGQRAR LREPIAQDQP
KILSKNEPIP PSALVKPNAN DAQVLMWRPK YGQPLVVIPP KHR
