F131C_HUMAN
ID F131C_HUMAN Reviewed; 280 AA.
AC Q96AQ9; Q5T5Q5; Q8N3X3; Q8N9P9;
DT 20-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT 20-MAR-2007, sequence version 2.
DT 03-AUG-2022, entry version 122.
DE RecName: Full=Protein FAM131C;
GN Name=FAM131C; Synonyms=C1orf117;
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], AND VARIANTS GLU-48 AND ARG-123.
RC TISSUE=Neuroblastoma;
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=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS GLU-48; GLN-107;
RP ARG-123 AND ASP-226.
RC TISSUE=Brain, and Uterus;
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 -!- INTERACTION:
CC Q96AQ9; P28799: GRN; NbExp=4; IntAct=EBI-741921, EBI-747754;
CC Q96AQ9; P28799-2: GRN; NbExp=3; IntAct=EBI-741921, EBI-25860013;
CC Q96AQ9; Q9UM19: HPCAL4; NbExp=6; IntAct=EBI-741921, EBI-744820;
CC Q96AQ9; Q8TAP4: LMO3; NbExp=3; IntAct=EBI-741921, EBI-742259;
CC Q96AQ9; P62760: VSNL1; NbExp=7; IntAct=EBI-741921, EBI-740943;
CC -!- SIMILARITY: Belongs to the FAM131 family. {ECO:0000305}.
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DR EMBL; AK094085; BAC04282.1; -; mRNA.
DR EMBL; AL355994; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC016848; AAH16848.1; -; mRNA.
DR EMBL; BC037394; AAH37394.1; -; mRNA.
DR CCDS; CCDS41270.1; -.
DR RefSeq; NP_872429.2; NM_182623.2.
DR AlphaFoldDB; Q96AQ9; -.
DR BioGRID; 131523; 17.
DR IntAct; Q96AQ9; 8.
DR STRING; 9606.ENSP00000364814; -.
DR iPTMnet; Q96AQ9; -.
DR PhosphoSitePlus; Q96AQ9; -.
DR BioMuta; FAM131C; -.
DR DMDM; 134035394; -.
DR MassIVE; Q96AQ9; -.
DR PaxDb; Q96AQ9; -.
DR PeptideAtlas; Q96AQ9; -.
DR PRIDE; Q96AQ9; -.
DR Antibodypedia; 52952; 79 antibodies from 12 providers.
DR DNASU; 348487; -.
DR Ensembl; ENST00000375662.5; ENSP00000364814.4; ENSG00000185519.9.
DR GeneID; 348487; -.
DR KEGG; hsa:348487; -.
DR MANE-Select; ENST00000375662.5; ENSP00000364814.4; NM_182623.3; NP_872429.2.
DR UCSC; uc001axz.5; human.
DR CTD; 348487; -.
DR GeneCards; FAM131C; -.
DR HGNC; HGNC:26717; FAM131C.
DR HPA; ENSG00000185519; Tissue enriched (brain).
DR neXtProt; NX_Q96AQ9; -.
DR OpenTargets; ENSG00000185519; -.
DR PharmGKB; PA162386082; -.
DR VEuPathDB; HostDB:ENSG00000185519; -.
DR eggNOG; ENOG502S1N6; Eukaryota.
DR GeneTree; ENSGT00950000183106; -.
DR HOGENOM; CLU_092457_0_0_1; -.
DR InParanoid; Q96AQ9; -.
DR OMA; EDERYCC; -.
DR OrthoDB; 1247596at2759; -.
DR PhylomeDB; Q96AQ9; -.
DR TreeFam; TF331537; -.
DR PathwayCommons; Q96AQ9; -.
DR SignaLink; Q96AQ9; -.
DR BioGRID-ORCS; 348487; 8 hits in 1072 CRISPR screens.
DR ChiTaRS; FAM131C; human.
DR GenomeRNAi; 348487; -.
DR Pharos; Q96AQ9; Tdark.
DR PRO; PR:Q96AQ9; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q96AQ9; protein.
DR Bgee; ENSG00000185519; Expressed in cerebellar hemisphere and 82 other tissues.
DR Genevisible; Q96AQ9; HS.
DR InterPro; IPR026782; FAM131.
DR PANTHER; PTHR15736; PTHR15736; 1.
DR Pfam; PF15010; FAM131; 1.
PE 1: Evidence at protein level;
KW Reference proteome.
FT CHAIN 1..280
FT /note="Protein FAM131C"
FT /id="PRO_0000280401"
FT REGION 195..280
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 195..216
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 217..235
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 48
FT /note="K -> E (in dbSNP:rs2863458)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_031130"
FT VARIANT 107
FT /note="R -> Q (in dbSNP:rs71510977)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_031131"
FT VARIANT 123
FT /note="P -> R (in dbSNP:rs11576236)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_031132"
FT VARIANT 215
FT /note="S -> I (in dbSNP:rs1832151)"
FT /id="VAR_031133"
FT VARIANT 226
FT /note="E -> D (in dbSNP:rs17853749)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_031134"
FT CONFLICT 19
FT /note="M -> I (in Ref. 1; BAC04282)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 280 AA; 30351 MW; 674631222FA8095C CRC64;
MGSCVSRDLF TSAHKNCPMP QGADPLNPDL PSGRTPTVAP DCVIGKDKQM DFCWDPWQRC
FQTTNGYLSD SRSRPGNYNV AALATSSLVG VVQSIKDHIT KPTAMARGRV AHLIEWKGWS
AQPAGWELSP AEDEHYCCLP DELREARFAA GVAEQFAITE ATLSAWSSLD EEELHPENSP
QGIVQLQDLE SIYLQDSLPS GPSQDDSLQA FSSPSPSPDS CPSPEEPPST AGIPQPPSPE
LQHRRRLPGA QGPEGGTHPP GSLPSMDSGS LWEEDEVFYN
