CER1_HUMAN
ID CER1_HUMAN Reviewed; 267 AA.
AC O95813; Q6ISJ1; Q6ISJ6; Q6ISQ2; Q6ISS1;
DT 12-APR-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-1999, sequence version 1.
DT 03-AUG-2022, entry version 148.
DE RecName: Full=Cerberus;
DE AltName: Full=Cerberus-related protein;
DE AltName: Full=DAN domain family member 4;
DE Flags: Precursor;
GN Name=CER1; Synonyms=DAND4;
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 [MRNA].
RC TISSUE=Blood;
RX PubMed=10049596; DOI=10.1006/geno.1998.5671;
RA Lah M., Brodnicki T., Maccarone P., Nash A., Stanley E., Harvey R.P.;
RT "Human cerberus related gene CER1 maps to chromosome 9.";
RL Genomics 55:364-366(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RA Feng Z., Zhang B., Peng X., Yuan J., Qiang B.;
RL Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS TRP-19; GLY-65 AND
RP ILE-179.
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 PROTEIN SEQUENCE OF 18-32.
RX PubMed=15340161; DOI=10.1110/ps.04682504;
RA Zhang Z., Henzel W.J.;
RT "Signal peptide prediction based on analysis of experimentally verified
RT cleavage sites.";
RL Protein Sci. 13:2819-2824(2004).
CC -!- FUNCTION: Cytokine that may play a role in anterior neural induction
CC and somite formation during embryogenesis in part through a BMP-
CC inhibitory mechanism. Can regulate Nodal signaling during gastrulation
CC as well as the formation and patterning of the primitive streak (By
CC similarity). {ECO:0000250}.
CC -!- SUBUNIT: Forms monomers and predominantly dimers. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- PTM: N-glycosylated. {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the DAN family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH69503.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};
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DR EMBL; AF090189; AAD19879.1; -; Genomic_DNA.
DR EMBL; AF400435; AAK92484.1; -; mRNA.
DR EMBL; AL390732; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC069371; AAH69371.1; -; mRNA.
DR EMBL; BC069405; AAH69405.1; -; mRNA.
DR EMBL; BC069491; AAH69491.1; -; mRNA.
DR EMBL; BC069503; AAH69503.1; ALT_SEQ; mRNA.
DR CCDS; CCDS6476.1; -.
DR RefSeq; NP_005445.1; NM_005454.2.
DR AlphaFoldDB; O95813; -.
DR BioGRID; 114753; 16.
DR IntAct; O95813; 6.
DR STRING; 9606.ENSP00000370297; -.
DR GlyGen; O95813; 2 sites.
DR iPTMnet; O95813; -.
DR PhosphoSitePlus; O95813; -.
DR BioMuta; CER1; -.
DR jPOST; O95813; -.
DR MassIVE; O95813; -.
DR PaxDb; O95813; -.
DR PeptideAtlas; O95813; -.
DR PRIDE; O95813; -.
DR ProteomicsDB; 51063; -.
DR Antibodypedia; 10019; 260 antibodies from 31 providers.
DR DNASU; 9350; -.
DR Ensembl; ENST00000380911.4; ENSP00000370297.3; ENSG00000147869.5.
DR GeneID; 9350; -.
DR KEGG; hsa:9350; -.
DR MANE-Select; ENST00000380911.4; ENSP00000370297.3; NM_005454.3; NP_005445.1.
DR UCSC; uc003zlj.4; human.
DR CTD; 9350; -.
DR DisGeNET; 9350; -.
DR GeneCards; CER1; -.
DR HGNC; HGNC:1862; CER1.
DR HPA; ENSG00000147869; Tissue enhanced (epididymis).
DR MIM; 603777; gene.
DR neXtProt; NX_O95813; -.
DR OpenTargets; ENSG00000147869; -.
DR PharmGKB; PA26417; -.
DR VEuPathDB; HostDB:ENSG00000147869; -.
DR eggNOG; ENOG502S2G4; Eukaryota.
DR GeneTree; ENSGT00530000063926; -.
DR HOGENOM; CLU_104447_0_0_1; -.
DR InParanoid; O95813; -.
DR OMA; FCSHCSP; -.
DR OrthoDB; 1134947at2759; -.
DR PhylomeDB; O95813; -.
DR TreeFam; TF106445; -.
DR PathwayCommons; O95813; -.
DR Reactome; R-HSA-1181150; Signaling by NODAL.
DR Reactome; R-HSA-1433617; Regulation of signaling by NODAL.
DR Reactome; R-HSA-201451; Signaling by BMP.
DR SignaLink; O95813; -.
DR BioGRID-ORCS; 9350; 11 hits in 1056 CRISPR screens.
DR GeneWiki; Cerberus_(protein); -.
DR GenomeRNAi; 9350; -.
DR Pharos; O95813; Tbio.
DR PRO; PR:O95813; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; O95813; protein.
DR Bgee; ENSG00000147869; Expressed in metanephros cortex and 38 other tissues.
DR Genevisible; O95813; HS.
DR GO; GO:0005576; C:extracellular region; ISS:BHF-UCL.
DR GO; GO:0005615; C:extracellular space; ISS:BHF-UCL.
DR GO; GO:0036122; F:BMP binding; IDA:BHF-UCL.
DR GO; GO:0005125; F:cytokine activity; IEA:UniProtKB-KW.
DR GO; GO:0016015; F:morphogen activity; IDA:BHF-UCL.
DR GO; GO:0042803; F:protein homodimerization activity; ISS:BHF-UCL.
DR GO; GO:0009948; P:anterior/posterior axis specification; ISS:BHF-UCL.
DR GO; GO:0009952; P:anterior/posterior pattern specification; ISS:BHF-UCL.
DR GO; GO:0030282; P:bone mineralization; IMP:BHF-UCL.
DR GO; GO:0042074; P:cell migration involved in gastrulation; ISS:BHF-UCL.
DR GO; GO:0071773; P:cellular response to BMP stimulus; ISS:BHF-UCL.
DR GO; GO:0071276; P:cellular response to cadmium ion; IEA:Ensembl.
DR GO; GO:0048263; P:determination of dorsal identity; IMP:BHF-UCL.
DR GO; GO:0061371; P:determination of heart left/right asymmetry; IBA:GO_Central.
DR GO; GO:0007369; P:gastrulation; ISS:BHF-UCL.
DR GO; GO:0003419; P:growth plate cartilage chondrocyte proliferation; ISS:BHF-UCL.
DR GO; GO:0032926; P:negative regulation of activin receptor signaling pathway; IDA:BHF-UCL.
DR GO; GO:0030514; P:negative regulation of BMP signaling pathway; ISS:BHF-UCL.
DR GO; GO:0008285; P:negative regulation of cell population proliferation; ISS:BHF-UCL.
DR GO; GO:2000381; P:negative regulation of mesoderm development; IMP:BHF-UCL.
DR GO; GO:1900176; P:negative regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry; IBA:GO_Central.
DR GO; GO:0007399; P:nervous system development; IMP:BHF-UCL.
DR GO; GO:0035582; P:sequestering of BMP in extracellular matrix; IDA:BHF-UCL.
DR GO; GO:0023019; P:signal transduction involved in regulation of gene expression; ISS:BHF-UCL.
DR GO; GO:0001657; P:ureteric bud development; ISS:UniProtKB.
DR Gene3D; 2.10.90.10; -; 1.
DR InterPro; IPR016860; Cerberus.
DR InterPro; IPR006207; Cys_knot_C.
DR InterPro; IPR029034; Cystine-knot_cytokine.
DR InterPro; IPR004133; DAN.
DR PANTHER; PTHR15273; PTHR15273; 1.
DR Pfam; PF03045; DAN; 1.
DR PIRSF; PIRSF027807; Cerberus; 1.
DR SMART; SM00041; CT; 1.
DR PROSITE; PS01225; CTCK_2; 1.
PE 1: Evidence at protein level;
KW Cytokine; Direct protein sequencing; Disulfide bond; Glycoprotein;
KW Reference proteome; Secreted; Signal.
FT SIGNAL 1..17
FT /evidence="ECO:0000269|PubMed:15340161"
FT CHAIN 18..267
FT /note="Cerberus"
FT /id="PRO_0000006711"
FT DOMAIN 162..246
FT /note="CTCK"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00039"
FT REGION 19..52
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 87..113
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 19..35
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 26
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 222
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 162..209
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00039"
FT DISULFID 176..223
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00039"
FT DISULFID 186..239
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00039"
FT DISULFID 190..241
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00039"
FT VARIANT 19
FT /note="R -> W (in dbSNP:rs10115703)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_021591"
FT VARIANT 65
FT /note="A -> G (in dbSNP:rs3747532)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_021592"
FT VARIANT 179
FT /note="V -> I (in dbSNP:rs7036635)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_021593"
FT CONFLICT 57
FT /note="F -> L (in Ref. 4; AAH69503)"
FT /evidence="ECO:0000305"
FT CONFLICT 221
FT /note="L -> V (in Ref. 4; AAH69405)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 267 AA; 30084 MW; C9FB048CD8558ED7 CRC64;
MHLLLFQLLV LLPLGKTTRH QDGRQNQSSL SPVLLPRNQR ELPTGNHEEA EEKPDLFVAV
PHLVATSPAG EGQRQREKML SRFGRFWKKP EREMHPSRDS DSEPFPPGTQ SLIQPIDGMK
MEKSPLREEA KKFWHHFMFR KTPASQGVIL PIKSHEVHWE TCRTVPFSQT ITHEGCEKVV
VQNNLCFGKC GSVHFPGAAQ HSHTSCSHCL PAKFTTMHLP LNCTELSSVI KVVMLVEECQ
CKVKTEHEDG HILHAGSQDS FIPGVSA
