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Fibronectin type III domain-containing protein 1 (Activation-associated cDNA protein) (Expressed in synovial lining protein)

 FNDC1_HUMAN             Reviewed;        1894 AA.
Q4ZHG4; A6H8X2; B7ZBR4; B7ZBR5; B9EK49; Q5JPI0; Q5VU31; Q5VU32;
Q5VXX4; Q70CQ6; Q96JG1;
17-APR-2007, integrated into UniProtKB/Swiss-Prot.
15-JUN-2010, sequence version 4.
12-SEP-2018, entry version 118.
RecName: Full=Fibronectin type III domain-containing protein 1;
AltName: Full=Activation-associated cDNA protein;
AltName: Full=Expressed in synovial lining protein;
Flags: Precursor;
Name=FNDC1; Synonyms=FNDC2, KIAA1866, MEL4B3;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANTS
1479-THR--THR-1484 DEL AND LYS-1504.
PubMed=9704633;
DOI=10.1002/1529-0131(199808)41:8<1356::AID-ART4>3.0.CO;2-X;
Seki T., Selby J., Haupl T., Winchester R.;
"Use of differential subtraction method to identify genes that
characterize the phenotype of cultured rheumatoid arthritis
synoviocytes.";
Arthritis Rheum. 41:1356-1364(1998).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=14574404; DOI=10.1038/nature02055;
Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E.,
Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R.,
Almeida J.P., Ambrose K.D., Andrews T.D., Ashwell R.I.S.,
Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J.,
Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P.,
Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y.,
Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E.,
Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A.,
Frankland J., French L., Garner P., Garnett J., Ghori M.J.,
Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M.,
Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S.,
Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R.,
Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E.,
Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A.,
Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C.,
Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M.,
Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K.,
McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T.,
Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R.,
Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W.,
Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M.,
Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L.,
Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J.,
Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B.,
Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L.,
Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W.,
Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A.,
Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.;
"The DNA sequence and analysis of human chromosome 6.";
Nature 425:805-811(2003).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 43-1894 (ISOFORM 2), AND
VARIANTS GLN-463; GLU-1003; GLU-1180; PRO-1261; ARG-1280;
1479-THR--THR-1484 DEL AND LYS-1504.
TISSUE=Brain;
PubMed=11347906; DOI=10.1093/dnares/8.2.85;
Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.;
"Prediction of the coding sequences of unidentified human genes. XX.
The complete sequences of 100 new cDNA clones from brain which code
for large proteins in vitro.";
DNA Res. 8:85-95(2001).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 43-1894 (ISOFORMS 1 AND 2),
AND VARIANTS ALA-438; GLN-463; GLU-1003; GLU-1180; PRO-1261; ARG-1280;
1479-THR--THR-1484 DEL AND LYS-1504.
TISSUE=Testis;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1196-1894 (ISOFORM 1), AND
VARIANTS PRO-1261; ARG-1280; 1479-THR--THR-1484 DEL AND LYS-1504.
TISSUE=Lymph node;
PubMed=17974005; DOI=10.1186/1471-2164-8-399;
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
"The full-ORF clone resource of the German cDNA consortium.";
BMC Genomics 8:399-399(2007).
[6]
NUCLEOTIDE SEQUENCE [MRNA] OF 1295-1894 (ISOFORM 1), INDUCTION BY
TGFB1, AND VARIANTS 1479-THR--THR-1484 DEL AND LYS-1504.
PubMed=16098131; DOI=10.1111/j.0906-6705.2005.00349.x;
Anderegg U., Breitschwerdt K., Koehler M.J., Sticherling M.,
Haustein U.-F., Simon J.C., Saalbach A.;
"MEL4B3, a novel mRNA is induced in skin tumors and regulated by TGF-
beta and pro-inflammatory cytokines.";
Exp. Dermatol. 14:709-718(2005).
-!- FUNCTION: May be an activator of G protein signaling.
{ECO:0000250}.
-!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=Q4ZHG4-1; Sequence=Displayed;
Name=2;
IsoId=Q4ZHG4-2; Sequence=VSP_024663;
Note=No experimental confirmation available.;
-!- TISSUE SPECIFICITY: Almost absent from healthy skin; especially in
epidermal keratinocytes, skin fibroblasts or endothelial cells and
is barely detectable in benign melanocytic naevi. Expressed in the
stroma close to skin tumors, in the tumor cells themselves and in
the epidermis of psoriasis.
-!- INDUCTION: By TGFB1 present in the melanoma cell conditioned
medium (MCCM). {ECO:0000269|PubMed:16098131}.
-!- CAUTION: It is uncertain whether Met-1 or Met-53 is the initiator.
{ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=AAI46784.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Sequence=AAI50608.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Sequence=AAY26234.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Sequence=CAE51894.1; Type=Frameshift; Positions=1487; Evidence={ECO:0000305};
-----------------------------------------------------------------------
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EMBL; DQ009660; AAY26234.1; ALT_INIT; mRNA.
EMBL; AL355492; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AL356417; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AL590551; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AB058769; BAB47495.2; -; mRNA.
EMBL; BC146783; AAI46784.1; ALT_INIT; mRNA.
EMBL; BC150607; AAI50608.1; ALT_INIT; mRNA.
EMBL; AL832410; CAI46178.2; -; mRNA.
EMBL; AJ586132; CAE51894.1; ALT_FRAME; mRNA.
CCDS; CCDS47512.1; -. [Q4ZHG4-1]
RefSeq; NP_115921.2; NM_032532.2. [Q4ZHG4-1]
UniGene; Hs.520525; -.
ProteinModelPortal; Q4ZHG4; -.
SMR; Q4ZHG4; -.
STRING; 9606.ENSP00000297267; -.
iPTMnet; Q4ZHG4; -.
PhosphoSitePlus; Q4ZHG4; -.
BioMuta; FNDC1; -.
DMDM; 298286926; -.
PaxDb; Q4ZHG4; -.
PeptideAtlas; Q4ZHG4; -.
PRIDE; Q4ZHG4; -.
ProteomicsDB; 62382; -.
ProteomicsDB; 62383; -. [Q4ZHG4-2]
Ensembl; ENST00000297267; ENSP00000297267; ENSG00000164694. [Q4ZHG4-1]
GeneID; 84624; -.
KEGG; hsa:84624; -.
UCSC; uc010kjv.4; human. [Q4ZHG4-1]
CTD; 84624; -.
DisGeNET; 84624; -.
EuPathDB; HostDB:ENSG00000164694.16; -.
GeneCards; FNDC1; -.
H-InvDB; HIX0006338; -.
HGNC; HGNC:21184; FNDC1.
HPA; HPA030962; -.
HPA; HPA030963; -.
MIM; 609991; gene.
neXtProt; NX_Q4ZHG4; -.
OpenTargets; ENSG00000164694; -.
PharmGKB; PA134906656; -.
eggNOG; KOG4221; Eukaryota.
eggNOG; ENOG410Z913; LUCA.
GeneTree; ENSGT00530000063558; -.
HOVERGEN; HBG107924; -.
InParanoid; Q4ZHG4; -.
OMA; RYLFKIR; -.
OrthoDB; EOG091G01SU; -.
PhylomeDB; Q4ZHG4; -.
TreeFam; TF337588; -.
GenomeRNAi; 84624; -.
PRO; PR:Q4ZHG4; -.
Proteomes; UP000005640; Chromosome 6.
Bgee; ENSG00000164694; Expressed in 139 organ(s), highest expression level in tendon of biceps brachii.
CleanEx; HS_FNDC1; -.
ExpressionAtlas; Q4ZHG4; baseline and differential.
Genevisible; Q4ZHG4; HS.
GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
GO; GO:0016607; C:nuclear speck; IDA:HPA.
CDD; cd00063; FN3; 5.
Gene3D; 2.60.40.10; -; 5.
InterPro; IPR003961; FN3_dom.
InterPro; IPR036116; FN3_sf.
InterPro; IPR013783; Ig-like_fold.
Pfam; PF00041; fn3; 4.
SMART; SM00060; FN3; 5.
SUPFAM; SSF49265; SSF49265; 3.
PROSITE; PS50853; FN3; 5.
2: Evidence at transcript level;
Alternative splicing; Complete proteome; Glycoprotein; Phosphoprotein;
Polymorphism; Reference proteome; Repeat; Secreted; Signal.
SIGNAL 1 32 {ECO:0000255}.
CHAIN 33 1894 Fibronectin type III domain-containing
protein 1.
/FTId=PRO_0000284831.
DOMAIN 39 131 Fibronectin type-III 1.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 158 258 Fibronectin type-III 2.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 262 357 Fibronectin type-III 3.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 362 457 Fibronectin type-III 4.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 1658 1752 Fibronectin type-III 5.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
COMPBIAS 671 773 Ser-rich.
COMPBIAS 1443 1516 Thr-rich.
MOD_RES 717 717 Phosphoserine.
{ECO:0000250|UniProtKB:Q2Q0I9}.
CARBOHYD 149 149 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1661 1661 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
VAR_SEQ 394 457 EYILSYAPALKPFGAKSLTYPGDTTSALVDGLQPGERYLFK
IRATNRRGLGPHSKAFIVAMPTT -> A (in isoform
2). {ECO:0000303|PubMed:11347906,
ECO:0000303|PubMed:15489334}.
/FTId=VSP_024663.
VARIANT 438 438 T -> A (in dbSNP:rs509648).
{ECO:0000269|PubMed:15489334}.
/FTId=VAR_031826.
VARIANT 463 463 E -> Q (in dbSNP:rs420137).
{ECO:0000269|PubMed:11347906,
ECO:0000269|PubMed:15489334}.
/FTId=VAR_031827.
VARIANT 1003 1003 Q -> E (in dbSNP:rs370434).
{ECO:0000269|PubMed:11347906,
ECO:0000269|PubMed:15489334}.
/FTId=VAR_031828.
VARIANT 1180 1180 D -> E (in dbSNP:rs420054).
{ECO:0000269|PubMed:11347906,
ECO:0000269|PubMed:15489334}.
/FTId=VAR_031829.
VARIANT 1261 1261 L -> P (in dbSNP:rs3003174).
{ECO:0000269|PubMed:11347906,
ECO:0000269|PubMed:15489334,
ECO:0000269|PubMed:17974005}.
/FTId=VAR_031830.
VARIANT 1280 1280 Q -> R (in dbSNP:rs2501176).
{ECO:0000269|PubMed:11347906,
ECO:0000269|PubMed:15489334,
ECO:0000269|PubMed:17974005}.
/FTId=VAR_031831.
VARIANT 1479 1484 Missing (in dbSNP:rs3842694).
{ECO:0000269|PubMed:11347906,
ECO:0000269|PubMed:15489334,
ECO:0000269|PubMed:16098131,
ECO:0000269|PubMed:17974005,
ECO:0000269|PubMed:9704633}.
/FTId=VAR_063225.
VARIANT 1504 1504 T -> K (in dbSNP:rs386360).
{ECO:0000269|PubMed:11347906,
ECO:0000269|PubMed:15489334,
ECO:0000269|PubMed:16098131,
ECO:0000269|PubMed:17974005,
ECO:0000269|PubMed:9704633}.
/FTId=VAR_031832.
VARIANT 1574 1574 T -> A (in dbSNP:rs7763726).
/FTId=VAR_031833.
CONFLICT 36 36 S -> P (in Ref. 1; AAY26234).
{ECO:0000305}.
CONFLICT 122 122 P -> S (in Ref. 4; AAI50608).
{ECO:0000305}.
CONFLICT 1295 1295 M -> K (in Ref. 6; CAE51894).
{ECO:0000305}.
CONFLICT 1487 1487 P -> S (in Ref. 6; CAE51894).
{ECO:0000305}.
CONFLICT 1685 1685 D -> N (in Ref. 6; CAE51894).
{ECO:0000305}.
CONFLICT 1894 1894 W -> G (in Ref. 6; CAE51894).
{ECO:0000305}.
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


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