ID   NODAL_HUMAN             Reviewed;         347 AA.
AC   Q96S42; Q2M3A5; Q8N4V3;
DT   10-JAN-2003, integrated into UniProtKB/Swiss-Prot.
DT   15-JAN-2008, sequence version 2.
DT   24-NOV-2009, entry version 67.
DE   RecName: Full=Nodal homolog;
DE   Flags: Precursor;
GN   Name=NODAL;
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 [GENOMIC DNA], AND VARIANT ARG-165.
RA   Tate Genshu T.;
RT   "Human Nodal-related gene.";
RL   Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases.
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.,
RA   Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D.,
RA   Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA   Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L.,
RA   Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S.,
RA   Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L.,
RA   Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J.,
RA   Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M.,
RA   Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S.,
RA   Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M.,
RA   Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A.,
RA   Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T.,
RA   Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I.,
RA   Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T.,
RA   Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA   Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W.,
RA   Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H.,
RA   Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L.,
RA   Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K.,
RA   Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T.,
RA   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 MRNA].
RC   TISSUE=Brain cortex, and Fetal brain;
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   [4]
RP   VARIANT SITUS AMBIGUUS GLN-183.
RX   MEDLINE=98016414; PubMed=9354794; DOI=10.1038/ng1197-305;
RA   Gebbia M., Ferrero G.B., Pilia G., Bassi M.T., Aylsworth A.S.,
RA   Penman-Splitt M., Bird L.M., Bamforth J.S., Burn J., Schlessiner D.,
RA   Nelson D.L., Casey B.;
RT   "X-linked situs abnormalities result from mutations in ZIC3.";
RL   Nat. Genet. 17:305-308(1997).
RN   [5]
RP   VARIANT [LARGE SCALE ANALYSIS] LYS-279.
RX   PubMed=16959974; DOI=10.1126/science.1133427;
RA   Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA   Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S.,
RA   Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J.,
RA   Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C.,
RA   Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N.,
RA   Vogelstein B., Kinzler K.W., Velculescu V.E.;
RT   "The consensus coding sequences of human breast and colorectal
RT   cancers.";
RL   Science 314:268-274(2006).
CC   -!- FUNCTION: Essential for mesoderm formation and axial patterning
CC       during embryonic development (By similarity).
CC   -!- SUBUNIT: Homodimer; disulfide-linked (By similarity).
CC   -!- SUBCELLULAR LOCATION: Secreted (By similarity).
CC   -!- DISEASE: Defects in NODAL may be a cause of situs ambiguus
CC       [MIM:601265].
CC   -!- SIMILARITY: Belongs to the TGF-beta family.
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DR   EMBL; AB067632; BAB62524.1; -; Genomic_DNA.
DR   EMBL; AC022532; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC033585; AAH33585.1; -; mRNA.
DR   EMBL; BC104976; AAI04977.1; -; mRNA.
DR   EMBL; BC112025; AAI12026.1; -; mRNA.
DR   IPI; IPI00045497; -.
DR   RefSeq; NP_060525.3; -.
DR   UniGene; Hs.370414; -.
DR   STRING; Q96S42; -.
DR   Ensembl; ENST00000287139; ENSP00000287139; ENSG00000156574; Homo sapiens.
DR   GeneID; 4838; -.
DR   KEGG; hsa:4838; -.
DR   UCSC; uc001jrc.1; human.
DR   CTD; 4838; -.
DR   GeneCards; GC10M071862; -.
DR   HGNC; HGNC:7865; NODAL.
DR   MIM; 601265; gene.
DR   PharmGKB; PA31669; -.
DR   HOGENOM; Q96S42; -.
DR   HOVERGEN; Q96S42; -.
DR   OMA; WIIYPKQ; -.
DR   OrthoDB; EOG9V19K6; -.
DR   NextBio; 18642; -.
DR   ArrayExpress; Q96S42; -.
DR   Bgee; Q96S42; -.
DR   CleanEx; HS_NODAL; -.
DR   Genevestigator; Q96S42; -.
DR   GermOnline; ENSG00000156574; Homo sapiens.
DR   GO; GO:0005615; C:extracellular space; IEA:UniProtKB-KW.
DR   GO; GO:0005125; F:cytokine activity; IEA:UniProtKB-KW.
DR   GO; GO:0008083; F:growth factor activity; IEA:UniProtKB-KW.
DR   InterPro; IPR001839; TGFb.
DR   InterPro; IPR017948; TGFb_CS.
DR   InterPro; IPR015615; TGFbeta.
DR   PANTHER; PTHR11848; TGFbeta; 1.
DR   Pfam; PF00019; TGF_beta; 1.
DR   SMART; SM00204; TGFB; 1.
DR   PROSITE; PS00250; TGF_BETA_1; 1.
DR   PROSITE; PS51362; TGF_BETA_2; 1.
PE   1: Evidence at protein level;
KW   Cleavage on pair of basic residues; Complete proteome; Cytokine;
KW   Developmental protein; Disease mutation; Disulfide bond; Glycoprotein;
KW   Growth factor; Polymorphism; Secreted; Signal.
FT   SIGNAL        1     26       Potential.
FT   PROPEP       27    237       Potential.
FT                                /FTId=PRO_0000033998.
FT   CHAIN       238    347       Nodal homolog.
FT                                /FTId=PRO_0000033999.
FT   CARBOHYD     72     72       N-linked (GlcNAc...) (Potential).
FT   CARBOHYD    199    199       N-linked (GlcNAc...) (Potential).
FT   DISULFID    247    313       By similarity.
FT   DISULFID    276    344       By similarity.
FT   DISULFID    280    346       By similarity.
FT   DISULFID    312    312       Interchain (By similarity).
FT   VARIANT     165    165       H -> R (in dbSNP:rs1904589).
FT                                /FTId=VAR_038193.
FT   VARIANT     183    183       R -> Q (in situs ambiguus).
FT                                /FTId=VAR_015111.
FT   VARIANT     203    203       E -> K (in dbSNP:rs10999334).
FT                                /FTId=VAR_038194.
FT   VARIANT     279    279       E -> K (in a colorectal cancer sample;
FT                                somatic mutation).
FT                                /FTId=VAR_036202.
SQ   SEQUENCE   347 AA;  39561 MW;  0D52352B9711650C CRC64;
     MHAHCLPFLL HAWWALLQAG AATVATALLR TRGQPSSPSP LAYMLSLYRD PLPRADIIRS
     LQAEDVAVDG QNWTFAFDFS FLSQQEDLAW AELRLQLSSP VDLPTEGSLA IEIFHQPKPD
     TEQASDSCLE RFQMDLFTVT LSQVTFSLGS MVLEVTRPLS KWLKHPGALE KQMSRVAGEC
     WPRPPTPPAT NVLLMLYSNL SQEQRQLGGS TLLWEAESSW RAQEGQLSWE WGKRHRRHHL
     PDRSQLCRKV KFQVDFNLIG WGSWIIYPKQ YNAYRCEGEC PNPVGEEFHP TNHAYIQSLL
     KRYQPHRVPS TCCAPVKTKP LSMLYVDNGR VLLDHHKDMI VEECGCL
//