ID FNDC1_HUMAN Reviewed; 1894 AA. AC Q4ZHG4; A6H8X2; B7ZBR4; B7ZBR5; B9EK49; Q5JPI0; Q5VU31; Q5VU32; AC Q5VXX4; Q70CQ6; Q96JG1; DT 17-APR-2007, integrated into UniProtKB/Swiss-Prot. DT 15-JUN-2010, sequence version 4. DT 13-FEB-2019, entry version 121. DE RecName: Full=Fibronectin type III domain-containing protein 1; DE AltName: Full=Activation-associated cDNA protein; DE AltName: Full=Expressed in synovial lining protein; DE Flags: Precursor; GN Name=FNDC1; Synonyms=FNDC2, KIAA1866, MEL4B3; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANTS RP 1479-THR--THR-1484 DEL AND LYS-1504. RX PubMed=9704633; RX DOI=10.1002/1529-0131(199808)41:8<1356::AID-ART4>3.0.CO;2-X; RA Seki T., Selby J., Haupl T., Winchester R.; RT "Use of differential subtraction method to identify genes that RT characterize the phenotype of cultured rheumatoid arthritis RT synoviocytes."; RL Arthritis Rheum. 41:1356-1364(1998). 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., RA Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., RA Almeida J.P., Ambrose K.D., Andrews T.D., Ashwell R.I.S., RA Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., RA Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., RA Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., RA 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., RA Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., RA Frankland J., French L., Garner P., Garnett J., Ghori M.J., RA Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., RA Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., RA Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., RA Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., RA Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., RA Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., RA Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., RA Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., RA McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., RA Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., RA Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., RA Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., RA Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., RA Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., RA Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., RA Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., RA Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., RA Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., RA Durbin R.M., Hubbard T., Sulston J.E., Dunham I., 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 MRNA] OF 43-1894 (ISOFORM 2), AND RP VARIANTS GLN-463; GLU-1003; GLU-1180; PRO-1261; ARG-1280; RP 1479-THR--THR-1484 DEL AND LYS-1504. RC TISSUE=Brain; RX PubMed=11347906; DOI=10.1093/dnares/8.2.85; RA Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.; RT "Prediction of the coding sequences of unidentified human genes. XX. RT The complete sequences of 100 new cDNA clones from brain which code RT for large proteins in vitro."; RL DNA Res. 8:85-95(2001). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 43-1894 (ISOFORMS 1 AND 2), RP AND VARIANTS ALA-438; GLN-463; GLU-1003; GLU-1180; PRO-1261; ARG-1280; RP 1479-THR--THR-1484 DEL AND LYS-1504. RC TISSUE=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 RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1196-1894 (ISOFORM 1), AND RP VARIANTS PRO-1261; ARG-1280; 1479-THR--THR-1484 DEL AND LYS-1504. RC TISSUE=Lymph node; RX PubMed=17974005; DOI=10.1186/1471-2164-8-399; RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.; RT "The full-ORF clone resource of the German cDNA consortium."; RL BMC Genomics 8:399-399(2007). RN [6] RP NUCLEOTIDE SEQUENCE [MRNA] OF 1295-1894 (ISOFORM 1), INDUCTION BY RP TGFB1, AND VARIANTS 1479-THR--THR-1484 DEL AND LYS-1504. RX PubMed=16098131; DOI=10.1111/j.0906-6705.2005.00349.x; RA Anderegg U., Breitschwerdt K., Koehler M.J., Sticherling M., RA Haustein U.-F., Simon J.C., Saalbach A.; RT "MEL4B3, a novel mRNA is induced in skin tumors and regulated by TGF- RT beta and pro-inflammatory cytokines."; RL Exp. Dermatol. 14:709-718(2005). CC -!- FUNCTION: May be an activator of G protein signaling. CC {ECO:0000250}. CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1; CC IsoId=Q4ZHG4-1; Sequence=Displayed; CC Name=2; CC IsoId=Q4ZHG4-2; Sequence=VSP_024663; CC Note=No experimental confirmation available.; CC -!- TISSUE SPECIFICITY: Almost absent from healthy skin; especially in CC epidermal keratinocytes, skin fibroblasts or endothelial cells and CC is barely detectable in benign melanocytic naevi. Expressed in the CC stroma close to skin tumors, in the tumor cells themselves and in CC the epidermis of psoriasis. CC -!- INDUCTION: By TGFB1 present in the melanoma cell conditioned CC medium (MCCM). {ECO:0000269|PubMed:16098131}. CC -!- CAUTION: It is uncertain whether Met-1 or Met-53 is the initiator. CC {ECO:0000305}. CC -!- SEQUENCE CAUTION: CC Sequence=AAI46784.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; CC Sequence=AAI50608.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; CC Sequence=AAY26234.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; CC Sequence=CAE51894.1; Type=Frameshift; Positions=1487; Evidence={ECO:0000305}; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; DQ009660; AAY26234.1; ALT_INIT; mRNA. DR EMBL; AL355492; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AL356417; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AL590551; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AB058769; BAB47495.2; -; mRNA. DR EMBL; BC146783; AAI46784.1; ALT_INIT; mRNA. DR EMBL; BC150607; AAI50608.1; ALT_INIT; mRNA. DR EMBL; AL832410; CAI46178.2; -; mRNA. DR EMBL; AJ586132; CAE51894.1; ALT_FRAME; mRNA. DR CCDS; CCDS47512.1; -. [Q4ZHG4-1] DR RefSeq; NP_115921.2; NM_032532.2. [Q4ZHG4-1] DR UniGene; Hs.520525; -. DR ProteinModelPortal; Q4ZHG4; -. DR SMR; Q4ZHG4; -. DR STRING; 9606.ENSP00000297267; -. DR iPTMnet; Q4ZHG4; -. DR PhosphoSitePlus; Q4ZHG4; -. DR BioMuta; FNDC1; -. DR DMDM; 298286926; -. DR jPOST; Q4ZHG4; -. DR PaxDb; Q4ZHG4; -. DR PeptideAtlas; Q4ZHG4; -. DR PRIDE; Q4ZHG4; -. DR ProteomicsDB; 62382; -. DR ProteomicsDB; 62383; -. [Q4ZHG4-2] DR Ensembl; ENST00000297267; ENSP00000297267; ENSG00000164694. [Q4ZHG4-1] DR GeneID; 84624; -. DR KEGG; hsa:84624; -. DR UCSC; uc010kjv.4; human. [Q4ZHG4-1] DR CTD; 84624; -. DR DisGeNET; 84624; -. DR EuPathDB; HostDB:ENSG00000164694.16; -. DR GeneCards; FNDC1; -. DR H-InvDB; HIX0006338; -. DR HGNC; HGNC:21184; FNDC1. DR HPA; HPA030962; -. DR HPA; HPA030963; -. DR MIM; 609991; gene. DR neXtProt; NX_Q4ZHG4; -. DR OpenTargets; ENSG00000164694; -. DR PharmGKB; PA134906656; -. DR eggNOG; KOG4221; Eukaryota. DR eggNOG; ENOG410Z913; LUCA. DR GeneTree; ENSGT00530000063558; -. DR HOVERGEN; HBG107924; -. DR InParanoid; Q4ZHG4; -. DR OMA; THSFLIE; -. DR OrthoDB; 46073at2759; -. DR PhylomeDB; Q4ZHG4; -. DR TreeFam; TF337588; -. DR GenomeRNAi; 84624; -. DR PRO; PR:Q4ZHG4; -. DR Proteomes; UP000005640; Chromosome 6. DR Bgee; ENSG00000164694; Expressed in 139 organ(s), highest expression level in tendon of biceps brachii. DR ExpressionAtlas; Q4ZHG4; baseline and differential. DR Genevisible; Q4ZHG4; HS. DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell. DR GO; GO:0016607; C:nuclear speck; IDA:HPA. DR CDD; cd00063; FN3; 5. DR Gene3D; 2.60.40.10; -; 5. DR InterPro; IPR003961; FN3_dom. DR InterPro; IPR036116; FN3_sf. DR InterPro; IPR013783; Ig-like_fold. DR Pfam; PF00041; fn3; 4. DR SMART; SM00060; FN3; 5. DR SUPFAM; SSF49265; SSF49265; 3. DR PROSITE; PS50853; FN3; 5. PE 2: Evidence at transcript level; KW Alternative splicing; Complete proteome; Glycoprotein; Phosphoprotein; KW Polymorphism; Reference proteome; Repeat; Secreted; Signal. FT SIGNAL 1 32 {ECO:0000255}. FT CHAIN 33 1894 Fibronectin type III domain-containing FT protein 1. FT /FTId=PRO_0000284831. FT DOMAIN 39 131 Fibronectin type-III 1. FT {ECO:0000255|PROSITE-ProRule:PRU00316}. FT DOMAIN 158 258 Fibronectin type-III 2. FT {ECO:0000255|PROSITE-ProRule:PRU00316}. FT DOMAIN 262 357 Fibronectin type-III 3. FT {ECO:0000255|PROSITE-ProRule:PRU00316}. FT DOMAIN 362 457 Fibronectin type-III 4. FT {ECO:0000255|PROSITE-ProRule:PRU00316}. FT DOMAIN 1658 1752 Fibronectin type-III 5. FT {ECO:0000255|PROSITE-ProRule:PRU00316}. FT COMPBIAS 671 773 Ser-rich. FT COMPBIAS 1443 1516 Thr-rich. FT MOD_RES 717 717 Phosphoserine. FT {ECO:0000250|UniProtKB:Q2Q0I9}. FT CARBOHYD 149 149 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 1661 1661 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT VAR_SEQ 394 457 EYILSYAPALKPFGAKSLTYPGDTTSALVDGLQPGERYLFK FT IRATNRRGLGPHSKAFIVAMPTT -> A (in isoform FT 2). {ECO:0000303|PubMed:11347906, FT ECO:0000303|PubMed:15489334}. FT /FTId=VSP_024663. FT VARIANT 438 438 T -> A (in dbSNP:rs509648). FT {ECO:0000269|PubMed:15489334}. FT /FTId=VAR_031826. FT VARIANT 463 463 E -> Q (in dbSNP:rs420137). FT {ECO:0000269|PubMed:11347906, FT ECO:0000269|PubMed:15489334}. FT /FTId=VAR_031827. FT VARIANT 1003 1003 Q -> E (in dbSNP:rs370434). FT {ECO:0000269|PubMed:11347906, FT ECO:0000269|PubMed:15489334}. FT /FTId=VAR_031828. FT VARIANT 1180 1180 D -> E (in dbSNP:rs420054). FT {ECO:0000269|PubMed:11347906, FT ECO:0000269|PubMed:15489334}. FT /FTId=VAR_031829. FT VARIANT 1261 1261 L -> P (in dbSNP:rs3003174). FT {ECO:0000269|PubMed:11347906, FT ECO:0000269|PubMed:15489334, FT ECO:0000269|PubMed:17974005}. FT /FTId=VAR_031830. FT VARIANT 1280 1280 Q -> R (in dbSNP:rs2501176). FT {ECO:0000269|PubMed:11347906, FT ECO:0000269|PubMed:15489334, FT ECO:0000269|PubMed:17974005}. FT /FTId=VAR_031831. FT VARIANT 1479 1484 Missing (in dbSNP:rs3842694). FT {ECO:0000269|PubMed:11347906, FT ECO:0000269|PubMed:15489334, FT ECO:0000269|PubMed:16098131, FT ECO:0000269|PubMed:17974005, FT ECO:0000269|PubMed:9704633}. FT /FTId=VAR_063225. FT VARIANT 1504 1504 T -> K (in dbSNP:rs386360). FT {ECO:0000269|PubMed:11347906, FT ECO:0000269|PubMed:15489334, FT ECO:0000269|PubMed:16098131, FT ECO:0000269|PubMed:17974005, FT ECO:0000269|PubMed:9704633}. FT /FTId=VAR_031832. FT VARIANT 1574 1574 T -> A (in dbSNP:rs7763726). FT /FTId=VAR_031833. FT CONFLICT 36 36 S -> P (in Ref. 1; AAY26234). FT {ECO:0000305}. FT CONFLICT 122 122 P -> S (in Ref. 4; AAI50608). FT {ECO:0000305}. FT CONFLICT 1295 1295 M -> K (in Ref. 6; CAE51894). FT {ECO:0000305}. FT CONFLICT 1487 1487 P -> S (in Ref. 6; CAE51894). FT {ECO:0000305}. FT CONFLICT 1685 1685 D -> N (in Ref. 6; CAE51894). FT {ECO:0000305}. FT CONFLICT 1894 1894 W -> G (in Ref. 6; CAE51894). FT {ECO:0000305}. SQ SEQUENCE 1894 AA; 205558 MW; 7A0A9D0445E511D8 CRC64; MAPEAGATLR APRRLSWAAL LLLAALLPVA SSAAASVDHP LKPRHVKLLS TKMGLKVTWD PPKDATSRPV EHYNIAYGKS LKSLKYIKVN AETYSFLIED VEPGVVYFVL LTAENHSGVS RPVYRAESPP GGEWIEIDGF PIKGPGPFNE TVTEKEVPNK PLRVRVRSSD DRLSVAWKAP RLSGAKSPRR SRGFLLGYGE SGRKMNYVPL TRDERTHEIK KLASESVYVV SLQSMNSQGR SQPVYRAALT KRKISEEDEL DVPDDISVRV MSSQSVLVSW VDPVLEKQKK VVASRQYTVR YREKGELARW DYKQIANRRV LIENLIPDTV YEFAVRISQG ERDGKWSTSV FQRTPESAPT TAPENLNVWP VNGKPTVVAA SWDALPETEG KVKEYILSYA PALKPFGAKS LTYPGDTTSA LVDGLQPGER YLFKIRATNR RGLGPHSKAF IVAMPTTSKA DVEQNTEDNG KPEKPEPSSP SPRAPASSQH PSVPASPQGR NAKDLLLDLK NKILANGGAP RKPQLRAKKA EELDLQSTEI TGEEELGSRE DSPMSPSDTQ DQKRTLRPPS RHGHSVVAPG RTAVRARMPA LPRREGVDKP GFSLATQPRP GAPPSASASP AHHASTQGTS HRPSLPASLN DNDLVDSDED ERAVGSLHPK GAFAQPRPAL SPSRQSPSSV LRDRSSVHPG AKPASPARRT PHSGAAEEDS SASAPPSRLS PPHGGSSRLL PTQPHLSSPL SKGGKDGEDA PATNSNAPSR STMSSSVSSH LSSRTQVSEG AEASDGESHG DGDREDGGRQ AEATAQTLRA RPASGHFHLL RHKPFAANGR SPSRFSIGRG PRLQPSSSPQ STVPSRAHPR VPSHSDSHPK LSSGIHGDEE DEKPLPATVV NDHVPSSSRQ PISRGWEDLR RSPQRGASLH RKEPIPENPK STGADTHPQG KYSSLASKAQ DVQQSTDADT EGHSPKAQPG STDRHASPAR PPAARSQQHP SVPRRMTPGR APQQQPPPPV ATSQHHPGPQ SRDAGRSPSQ PRLSLTQAGR PRPTSQGRSH SSSDPYTASS RGMLPTALQN QDEDAQGSYD DDSTEVEAQD VRAPAHAARA KEAAASLPKH QQVESPTGAG AGGDHRSQRG HAASPARPSR PGGPQSRARV PSRAAPGKSE PPSKRPLSSK SQQSVSAEDD EEEDAGFFKG GKEDLLSSSV PKWPSSSTPR GGKDADGSLA KEEREPAIAL APRGGSLAPV KRPLPPPPGS SPRASHVPSR LPPRSAATVS PVAGTHPWPQ YTTRAPPGHF STTPMLSLRQ RMMHARFRNP LSRQPARPSY RQGYNGRPNV EGKVLPGSNG KPNGQRIING PQGTKWVVDL DRGLVLNAEG RYLQDSHGNP LRIKLGGDGR TIVDLEGTPV VSPDGLPLFG QGRHGTPLAN AQDKPILSLG GKPLVGLEVI KKTTHPPTTT MQPTTTTTPL PTTTTPRPTT ATTRRTTTTR RTTTRRPTTT VRTTTRTTTT TTPTPTTPIP TCPPGTLERH DDDGNLIMSS NGIPECYAEE DEFSGLETDT AVPTEEAYVI YDEDYEFETS RPPTTTEPST TATTPRVIPE EGAISSFPEE EFDLAGRKRF VAPYVTYLNK DPSAPCSLTD ALDHFQVDSL DEIIPNDLKK SDLPPQHAPR NITVVAVEGC HSFVIVDWDK ATPGDVVTGY LVYSASYEDF IRNKWSTQAS SVTHLPIENL KPNTRYYFKV QAQNPHGYGP ISPSVSFVTE SDNPLLVVRP PGGEPIWIPF AFKHDPSYTD CHGRQYVKRT WYRKFVGVVL CNSLRYKIYL SDNLKDTFYS IGDSWGRGED HCQFVDSHLD GRTGPQSYVE ALPTIQGYYR QYRQEPVRFG NIGFGTPYYY VGWYECGVSI PGKW //