FA13C_HUMAN
ID FA13C_HUMAN Reviewed; 585 AA.
AC Q8NE31; B7ZB77; Q5T631; Q6P2M3; Q99787;
DT 11-APR-2003, integrated into UniProtKB/Swiss-Prot.
DT 25-NOV-2008, sequence version 2.
DT 03-AUG-2022, entry version 135.
DE RecName: Full=Protein FAM13C;
GN Name=FAM13C; Synonyms=FAM13C1;
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 4).
RC TISSUE=Uterus;
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=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), AND VARIANT
RP HIS-82.
RC TISSUE=Brain, and Testis;
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 87-585 (ISOFORM 2).
RC TISSUE=Brain;
RX PubMed=9110174; DOI=10.1101/gr.7.4.353;
RA Yu W., Andersson B., Worley K.C., Muzny D.M., Ding Y., Liu W.,
RA Ricafrente J.Y., Wentland M.A., Lennon G., Gibbs R.A.;
RT "Large-scale concatenation cDNA sequencing.";
RL Genome Res. 7:353-358(1997).
CC -!- INTERACTION:
CC Q8NE31; P0C7W6: CCDC172; NbExp=5; IntAct=EBI-751248, EBI-2548868;
CC Q8NE31; Q8NHQ1: CEP70; NbExp=3; IntAct=EBI-751248, EBI-739624;
CC Q8NE31; Q92997: DVL3; NbExp=3; IntAct=EBI-751248, EBI-739789;
CC Q8NE31; Q6NT76: HMBOX1; NbExp=3; IntAct=EBI-751248, EBI-2549423;
CC Q8NE31; O00139: KIF2A; NbExp=4; IntAct=EBI-751248, EBI-2692369;
CC Q8NE31; Q9NPJ6: MED4; NbExp=3; IntAct=EBI-751248, EBI-394607;
CC Q8NE31; P50222: MEOX2; NbExp=3; IntAct=EBI-751248, EBI-748397;
CC Q8NE31; Q14696: MESD; NbExp=3; IntAct=EBI-751248, EBI-6165891;
CC Q8NE31; Q9UBU8-2: MORF4L1; NbExp=3; IntAct=EBI-751248, EBI-10288852;
CC Q8NE31; Q5JR59: MTUS2; NbExp=3; IntAct=EBI-751248, EBI-742948;
CC Q8NE31; Q8IXK0: PHC2; NbExp=3; IntAct=EBI-751248, EBI-713786;
CC Q8NE31; Q9H190: SDCBP2; NbExp=3; IntAct=EBI-751248, EBI-742426;
CC Q8NE31; Q9UBB9: TFIP11; NbExp=5; IntAct=EBI-751248, EBI-1105213;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=Q8NE31-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NE31-2; Sequence=VSP_035841, VSP_035842;
CC Name=3;
CC IsoId=Q8NE31-3; Sequence=VSP_035840;
CC Name=4;
CC IsoId=Q8NE31-4; Sequence=VSP_044286;
CC Name=5;
CC IsoId=Q8NE31-5; Sequence=VSP_044286, VSP_045812;
CC -!- SIMILARITY: Belongs to the FAM13 family. {ECO:0000305}.
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DR EMBL; AK316542; BAH14913.1; -; mRNA.
DR EMBL; AC025038; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL355474; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471083; EAW54190.1; -; Genomic_DNA.
DR EMBL; BC036453; AAH36453.1; -; mRNA.
DR EMBL; BC064431; AAH64431.1; -; mRNA.
DR EMBL; U79304; AAB50228.1; -; mRNA.
DR CCDS; CCDS31207.1; -. [Q8NE31-3]
DR CCDS; CCDS44406.1; -. [Q8NE31-4]
DR CCDS; CCDS53538.1; -. [Q8NE31-5]
DR CCDS; CCDS7255.1; -. [Q8NE31-1]
DR RefSeq; NP_001001971.1; NM_001001971.2. [Q8NE31-3]
DR RefSeq; NP_001137245.1; NM_001143773.1. [Q8NE31-4]
DR RefSeq; NP_001160170.1; NM_001166698.1. [Q8NE31-5]
DR RefSeq; NP_001334769.1; NM_001347840.1. [Q8NE31-4]
DR RefSeq; NP_001334771.1; NM_001347842.1. [Q8NE31-5]
DR RefSeq; NP_001334772.1; NM_001347843.1.
DR RefSeq; NP_001334773.1; NM_001347844.1. [Q8NE31-5]
DR RefSeq; NP_001334774.1; NM_001347845.1.
DR RefSeq; NP_001334776.1; NM_001347847.1. [Q8NE31-4]
DR RefSeq; NP_001334777.1; NM_001347848.1.
DR RefSeq; NP_001334779.1; NM_001347850.1.
DR RefSeq; NP_937858.2; NM_198215.3. [Q8NE31-1]
DR RefSeq; XP_006717765.1; XM_006717702.3. [Q8NE31-4]
DR RefSeq; XP_016871375.1; XM_017015886.1. [Q8NE31-5]
DR RefSeq; XP_016871378.1; XM_017015889.1. [Q8NE31-5]
DR AlphaFoldDB; Q8NE31; -.
DR SMR; Q8NE31; -.
DR BioGRID; 128665; 25.
DR IntAct; Q8NE31; 19.
DR STRING; 9606.ENSP00000481854; -.
DR iPTMnet; Q8NE31; -.
DR PhosphoSitePlus; Q8NE31; -.
DR BioMuta; FAM13C; -.
DR DMDM; 215273980; -.
DR MassIVE; Q8NE31; -.
DR PaxDb; Q8NE31; -.
DR PeptideAtlas; Q8NE31; -.
DR PRIDE; Q8NE31; -.
DR ProteomicsDB; 7098; -.
DR ProteomicsDB; 73121; -. [Q8NE31-1]
DR ProteomicsDB; 73122; -. [Q8NE31-2]
DR ProteomicsDB; 73123; -. [Q8NE31-3]
DR Antibodypedia; 28120; 74 antibodies from 16 providers.
DR DNASU; 220965; -.
DR Ensembl; ENST00000422313.6; ENSP00000400241.2; ENSG00000148541.13. [Q8NE31-2]
DR Ensembl; ENST00000468840.6; ENSP00000423896.1; ENSG00000148541.13. [Q8NE31-4]
DR Ensembl; ENST00000611933.4; ENSP00000481830.1; ENSG00000148541.13. [Q8NE31-3]
DR Ensembl; ENST00000618427.4; ENSP00000480677.1; ENSG00000148541.13. [Q8NE31-5]
DR Ensembl; ENST00000618804.5; ENSP00000481854.1; ENSG00000148541.13. [Q8NE31-1]
DR GeneID; 220965; -.
DR KEGG; hsa:220965; -.
DR MANE-Select; ENST00000618804.5; ENSP00000481854.1; NM_198215.4; NP_937858.2.
DR UCSC; uc001jkp.4; human. [Q8NE31-1]
DR CTD; 220965; -.
DR DisGeNET; 220965; -.
DR GeneCards; FAM13C; -.
DR HGNC; HGNC:19371; FAM13C.
DR HPA; ENSG00000148541; Tissue enhanced (brain).
DR neXtProt; NX_Q8NE31; -.
DR OpenTargets; ENSG00000148541; -.
DR PharmGKB; PA164719657; -.
DR VEuPathDB; HostDB:ENSG00000148541; -.
DR eggNOG; ENOG502QWSB; Eukaryota.
DR GeneTree; ENSGT00950000183033; -.
DR HOGENOM; CLU_012606_2_0_1; -.
DR InParanoid; Q8NE31; -.
DR OMA; TWLMFSC; -.
DR PhylomeDB; Q8NE31; -.
DR TreeFam; TF328895; -.
DR PathwayCommons; Q8NE31; -.
DR SignaLink; Q8NE31; -.
DR BioGRID-ORCS; 220965; 7 hits in 1067 CRISPR screens.
DR ChiTaRS; FAM13C; human.
DR GenomeRNAi; 220965; -.
DR Pharos; Q8NE31; Tdark.
DR PRO; PR:Q8NE31; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q8NE31; protein.
DR Bgee; ENSG00000148541; Expressed in corpus callosum and 171 other tissues.
DR ExpressionAtlas; Q8NE31; baseline and differential.
DR Genevisible; Q8NE31; HS.
DR InterPro; IPR039102; FAM13.
DR PANTHER; PTHR15904; PTHR15904; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Phosphoprotein; Reference proteome.
FT CHAIN 1..585
FT /note="Protein FAM13C"
FT /id="PRO_0000058922"
FT REGION 26..45
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 83..138
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 171..216
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 250..282
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 349..391
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 441..477
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 92..109
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 110..138
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 198..212
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 131
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9DBR2"
FT MOD_RES 238
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9DBR2"
FT MOD_RES 385
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9DBR2"
FT MOD_RES 386
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9DBR2"
FT VAR_SEQ 1..83
FT /note="Missing (in isoform 4 and isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_044286"
FT VAR_SEQ 315..412
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_035840"
FT VAR_SEQ 445..458
FT /note="QEEEDSDEDRPQGS -> VSQDTCMLLLCTDV (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:9110174"
FT /id="VSP_035841"
FT VAR_SEQ 445
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000305"
FT /id="VSP_045812"
FT VAR_SEQ 459..585
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:9110174"
FT /id="VSP_035842"
FT VARIANT 82
FT /note="P -> H (in dbSNP:rs17853626)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_047661"
SQ SEQUENCE 585 AA; 65727 MW; 209AA62323588462 CRC64;
MFSCFCFSLQ DNSFSSTTVT ECDEDPVSLH EDQTDCSSLR DENNKENYPD AGALVEEHAP
PSWEPQQQNV EATVLVDSVL RPSMGNFKSR KPKSIFKAES GRSHGESQET EHVVSSQSEC
QVRAGTPAHE SPQNNAFKCQ ETVRLQPRID QRTAISPKDA FETRQDLNEE EAAQVHGVKD
PAPASTQSVL ADGTDSADPS PVHKDGQNEA DSAPEDLHSV GTSRLLYHIT DGDNPLLSPR
CSIFSQSQRF NLDPESAPSP PSTQQFMMPR SSSRCSCGDG KEPQTITQLT KHIQSLKRKI
RKFEEKFEQE KKYRPSHGDK TSNPEVLKWM NDLAKGRKQL KELKLKLSEE QGSAPKGPPR
NLLCEQPTVP RENGKPEAAG PEPSSSGEET PDAALTCLKE RREQLPPQED SKVTKQDKNL
IKPLYDRYRI IKQILSTPSL IPTIQEEEDS DEDRPQGSQQ PSLADPASHL PVGDHLTYSN
ETEPVRALLP DEKKEVKPPA LSMSNLHEAT MPVLLDHLRE TRADKKRLRK ALREFEEQFF
KQTGRSPQKE DRIPMADEYY EYKHIKAKLR LLEVLISKQD VAKTI
