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UniProtKB/Swiss-Prot entry Q96S42


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name NODAL_HUMAN
Primary accession number Q96S42
Secondary accession numbers Q2M3A5 Q8N4V3
Integrated into Swiss-Prot on January 10, 2003
Sequence was last modified on January 15, 2008 (Sequence version 2)
Annotations were last modified on    June 16, 2009 (Entry version 61)
Name and origin of the protein
Protein name Nodal homolog [Precursor]
Synonyms None
Gene name
Name: NODAL
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT ARG-165.
Tate Genshu T.;
"Human Nodal-related gene.";
Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases.
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature02462; PubMed=15164054 [NCBI, ExPASy, EBI, Israel, Japan]
Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
"The DNA sequence and comparative analysis of human chromosome 10.";
Nature 429:375-381(2004).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Brain cortex, and Fetal brain;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
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).
[4]
VARIANT SITUS AMBIGUUS GLN-183.
DOI=10.1038/ng1197-305; PubMed=9354794 [NCBI, ExPASy, EBI, Israel, Japan]
Gebbia M., Ferrero G.B., Pilia G., Bassi M.T., Aylsworth A.S., Penman-Splitt M., Bird L.M., Bamforth J.S., Burn J., Schlessiner D., Nelson D.L., Casey B.;
"X-linked situs abnormalities result from mutations in ZIC3.";
Nat. Genet. 17:305-308(1997).
[5]
VARIANT [LARGE SCALE ANALYSIS] LYS-279.
DOI=10.1126/science.1133427; PubMed=16959974 [NCBI, ExPASy, EBI, Israel, Japan]
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.;
"The consensus coding sequences of human breast and colorectal cancers.";
Science 314:268-274(2006).
Comments
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
AB067632; BAB62524.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AC022532; -; NOT_ANNOTATED_CDS; Genomic_DNA.[EMBL / GenBank / DDBJ]
BC033585; AAH33585.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC104976; AAI04977.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC112025; AAI12026.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
IPI IPI00045497; -.
RefSeq NP_060525.3; -.
UniGene Hs.370414
3D structure databases
HSSP P08476; 1NYS. [HSSP ENTRY / PDB]
ModBase Q96S42.
Organism-specific databases
GeneCards GC10M071862; -.
HGNC HGNC:7865; NODAL.
GenAtlas NODAL.
MIM 601265; gene. [NCBI / EBI]
PharmGKB PA31669; -.
Gene expression databases
ArrayExpress Q96S42; -.
Bgee Q96S42; -.
CleanEx HS_NODAL; -.
GermOnline ENSG00000156574; Homo sapiens.
Ontologies
GO
GO:0005615; Cellular component: extracellular space (inferred from electronic annotation from UniProtKB-KW).
GO:0005125; Molecular function: cytokine activity (inferred from electronic annotation from UniProtKB-KW).
GO:0008083; Molecular function: growth factor activity (inferred from electronic annotation from UniProtKB-KW).
QuickGo view.
Family and domain databases
InterPro IPR001839; TGFb.
IPR017948; TGFb_CS.
IPR015615; TGFbeta.
Graphical view of domain structure.
PANTHER PTHR11848; TGFbeta; 1.
Pfam PF00019; TGF_beta; 1.
Pfam graphical view of domain structure.
ProDom PD000357; TGFb; 1.
[Domain structure / List of seq. sharing at least 1 domain]
SMART SM00204; TGFB; 1.
SMART graphical view of domain structure.
PROSITE PS00250; TGF_BETA_1; 1.
PS51362; TGF_BETA_2; 1.
PROSITE graphical view of domain structure (profiles).
Genome annotation databases
Ensembl ENSG00000156574; Homo sapiens. [Contig view]
GeneID 4838; -.
KEGG hsa:4838; -.
Phylogenomic databases
HOGENOM Q96S42; -.
HOVERGEN Q96S42; -.
OMA Q96S42; TNHAYIQ.
Other
NextBio 18642; -.
SOURCE NODAL; Homo sapiens.
ProtoNet Q96S42.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Cleavage on pair of basic residues; Cytokine; Developmental protein; Disease mutation; Disulfide bond; Glycoprotein; Growth factor; Polymorphism; Secreted; Signal.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
SIGNAL   1    26  26     Potential. 
PROPEP   27   237  211     Potential. PRO_0000033998
CHAIN   238   347  110     Nodal homolog. PRO_0000033999
CARBOHYD   72    72        N-linked (GlcNAc...) (Potential). 
CARBOHYD   199   199        N-linked (GlcNAc...) (Potential). 
DISULFID   247   313        By similarity. 
DISULFID   276   344        By similarity. 
DISULFID   280   346        By similarity. 
DISULFID   312   312        Interchain (By similarity). 
VARIANT   165   165  1     H -> R (in dbSNP:rs1904589 [NCBI]). VAR_038193 
VARIANT   183   183  1     R -> Q (in situs ambiguus). VAR_015111 
VARIANT   203   203  1     E -> K (in dbSNP:rs10999334 [NCBI]). VAR_038194 
VARIANT   279   279  1     E -> K (in a colorectal cancer sample; somatic mutation). VAR_036202 
Sequence information
Length: 347 AA [This is the length of the unprocessed precursor] Molecular weight: 39561 Da [This is the MW of the unprocessed precursor] CRC64: 0D52352B9711650C [This is a checksum on the sequence]
        10         20         30         40         50         60 
MHAHCLPFLL HAWWALLQAG AATVATALLR TRGQPSSPSP LAYMLSLYRD PLPRADIIRS 

        70         80         90        100        110        120 
LQAEDVAVDG QNWTFAFDFS FLSQQEDLAW AELRLQLSSP VDLPTEGSLA IEIFHQPKPD 

       130        140        150        160        170        180 
TEQASDSCLE RFQMDLFTVT LSQVTFSLGS MVLEVTRPLS KWLKHPGALE KQMSRVAGEC 

       190        200        210        220        230        240 
WPRPPTPPAT NVLLMLYSNL SQEQRQLGGS TLLWEAESSW RAQEGQLSWE WGKRHRRHHL 

       250        260        270        280        290        300 
PDRSQLCRKV KFQVDFNLIG WGSWIIYPKQ YNAYRCEGEC PNPVGEEFHP TNHAYIQSLL 

       310        320        330        340 
KRYQPHRVPS TCCAPVKTKP LSMLYVDNGR VLLDHHKDMI VEECGCL 

Q96S42 in FASTA format

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