H-InvDB x AHG DB
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H-InvDB_9.0 released on May 27, 2015.
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H-Invitational ID: HIT000262810 Accession number: BC067842 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Cyclin-dependent kinase inhibitor 1C; Cyclin-dependent kinase inhibitor p57; p57Kip2;
 
 

Transcript original information
Accession number BC067842.1
CAGE tag ID NA
EST ID NA
Clone Number MGC:87429 IMAGE:30332904
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ; Antibody: searching human antibodies at "BIO-kaimono.com" Antibody (CDKN1C) ; Catalog: searching experimental product catalogs at "BIO-kaimono.com" Catalog (CDKN1C);
Sequence data provider NA
Annotation project NA
Length of cDNA 1584[bp] (No. of exon:3)[A:275 T:243 G:501 C:565]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type Placenta, pre-eclamptic
Develpmental stage NA
Mini-G
Sequence quality information
CDS feature Complete CDS
Kozak sequence NA
PolyA Site: 1569(+) Signal: 1543-1547(+)
Vector/adapter sequence NA
Frame shift NA
Remaining intron NA
Splice site acceptor (NAGNAG) NA
Transcript quality feature NA
Notes NA

Gene structure information  G-integra H-DBAS cDNA-genome alignment
H-Inv cluster ID HIX0035977
Genomic location  G-integra Help Chromosome 11
Location 11p15.4
Position 2904813- 2907001
Strand -
Possible duplicated location(s) NA
Gene structure 3 exon(s)
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:1028
KEGG GENES KEGG GENES(1028)
GeneCard GeneCardCDKN1C*GeneCards is provided free to academic non-profit institutions.
Related H-InvDB links H-DBASH-DBAS G-integraG-integra cDNA-genome alignmentcDNA-genome alignment

Predicted CDS information
HIP ID HIP000096444
Predicted CDS 286..1236;  316[aa];  Orientation:+1; 
Codon Adaptation Index (CAI). 0.704
Database links RefSeq NP_000067
UniProt P49918
CCDS CCDS7738

Motif information
ORF

length(316),orf(286:1236)
MSDASLRSTSTMERLVARGTFPVLVRTSACRSLFGPVDHEELSRELQARL
AELNAEDQNRWDYDFQQDMPLRGPGRLQWTEVDSDSVPAFYRETVQVGRC
RLLLAPRPVAVAVAVSPPLEPAAESLDGLEEAPEQLPSVPVPAPASTPPP
VPVLAPAPAPAPAPVAAPVAAPVAVAVLAPAPAPAPAPAPAPAPVAAPAP
APAPAPAPAPAPAPAPDAAPQESAEQGANQGQRGQEPLADQLHSGISGRP
AAGTAAASANGAAIKKLSGPLISDFFAKRKRSAPEKSSGDVPAPCPSPSA
APGVGSVEQTPRKRLR*
a.a.
length
InterPro Name
length(316), motif(1:316) 316 IPR003175 Cyclin-dependent kinase inhibitor [Family]
length(53), motif(31:83) 53 IPR003175 Cyclin-dependent kinase inhibitor [Family]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000262810
H-Inv cluster ID Locus viewHIX0035977
Accession number BC067842.1
CAGE tag ID NA
EST ID NA
Transcript feature  Help Representative H-Inv IDRepresentative transcript;  Splicing isoformSplicing isoform
Coding potential  Help Protein coding; 
Definition Cyclin-dependent kinase inhibitor 1C; Cyclin-dependent kinase inhibitor p57; p57Kip2;
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (P49918)  [Identity/coverage = 100.0%/100.0%] to Homo sapiens (Human). protein.
Experimental evidence Protein evidence
PubMed ID 77296848640800865514310424811154893341866964822634751ALL
Gene family/group Gene family H-Inv gene family/group ID NA
Gene family/group name NA
Evidence motif (InterPro) ID NA
Gene symbol/name HGNC symbol CDKN1C
HGNC aliases "Beckwith-Wiedemann syndrome"
HGNC name cyclin-dependent kinase inhibitor 1C (p57, Kip2)
DDBJ CDKN1C
UniProt CDKN1C
EC number NA
GGDB
(GlycoGene Database)
Gene symbol NA
Familly NA
Designation NA
Expression NA
KEGG metabolic pathway NA
Protein-protein interaction (PPI) PPI viewer H-Inv protein ID HIP000096444
No. of interaction 3
Interaction partner(s) HIP000041353HIP000103618HIP000105729
BIND NA
DIP 151313E;  152944E; 
MINT MINT-1779972;  MINT-1780021;  MINT-6803975;  MINT-6803987;  MINT-6804000;  MINT-6804015;  MINT-6804035;  MINT-6804091; 
HPRD 00447;  01166;  01456;  03256;  04801;  12363; 
IntAct NA
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:1028
KEGG GENES KEGG GENES(1028)
GeneCard GeneCardCDKN1C*GeneCards is provided free to academic non-profit institutions.
etc H-GOLDHuman-Gene diversity Of Life-style related Diseases
Curation status Human curated
Notes NA
Related H-InvDB links Gene familyGene family;  Similarity Search ToolSimilarity Search Tool TACTTACT
fRNAdb (The functional RNA database) : overlapping fRNAdb entries with H-InvDB transcripts based on the location of the genome. 
NA

Gene ontology information
Molecular function cyclin-dependent protein kinase inhibitor activity (GO:0004861); 
Biological process cell cycle arrest (GO:0007050); 
Cellular component nucleus (GO:0005634); 

Subcellular localization information  Last modified:27-May-2015
WoLF PSORT extracellular;  mitochondria;  nuclear;  Other; 
Target P mitochondria
SOSUI soluble protein
TMHMM soluble protein
PTS1 Not targeted
Related H-InvDB links LIFEdb LIFEdb; 
JRE-1.4.0 or later is required. Download JRE at Sun's web site.

Gene expression information  H-ANGEL DNAProbeLocator Last modified:27-May-2015
Tissue-specific expression  H-ANGEL NA
Probe
information DNAProbeLocator
AceGene AGhsA180324; 
Affymetrix
GeneChip
HG-Focus NA
HG-U133 213182_x_at;  213183_s_at;  216894_x_at;  219533_at;  219534_x_at; 
HG-U133A 213182_x_at;  213183_s_at;  216894_x_at;  219533_at;  219534_x_at; 
HG-U133A_2 213182_x_at;  213183_s_at;  216894_x_at;  219533_at;  219534_x_at; 
HG-U133B NA
HG-U133_Plus_2 213182_x_at;  213183_s_at;  216894_x_at;  219533_at;  219534_x_at; 
HG-U95 1787_at;  38673_s_at; 
HG-U95A 1787_at;  38673_s_at; 
HG-U95B NA
HG-U95C NA
HG-U95D NA
HG-U95E NA
HG-U95Av2 NA
HuEx-1_0 3317507;  3317508;  3317512;  3359436;  3359437;  3359438;  3359439;  3359440;  3359441;  3359442;  3359443;  3359444;  3359445; 
HuGeneFL U22398_at; 
Agilent Human 1A Oligo Microarray:PGID215 A_23_P428129; 
Whole Human Genome Oligo Microarray:PGID247 A_23_P428129; 
Related H-InvDB links H-ANGELH-ANGEL DNAProbeLocatorDNAProbeLocator

Disease/pathology information  DiseaseInfo Viewer LEGENDA Last modified:27-May-2015
Disease relation Disease name: Beckwith-Wiedemann syndrome (130650); 
Related information in OMIM OMIM ID:  600856;  Title: CYCLIN-DEPENDENT KINASE INHIBITOR 1C
Co-localized orphan diseases NA
Disease related mutation MutationView:  600856
JRE-1.4.0 or later is required.Download JRE at Sun's web site.
Literature-Extracted GENe-Disease Associations (LEGENDA) LEGENDA Gene name Entrez Gene ID:(1028)
Disease Entrez Gene ID:(1028)
Substance Entrez Gene ID:(1028)
Related H-InvDB links DiseaseInfo ViewerDiseaseInfo ViewerLEGENDALEGENDA

Evolutionary information  Evola Help Last modified:27-May-2015
Relationship Species Accession number MGI Links
Orthology Mus sp. (Mouse) AK077844 MGI:1899183 G-integraG-integra
Orthology Rattus sp. (Rat) AY351678 G-integraG-integra
Orthology Bos sp. (Cow) BC123620 G-integraG-integra
Orthology Macaca sp. (Macaque) XM_001117302 G-integraG-integra
Phylogenetic tree [View by ATV]
Neighbor-joining (phb) 
Related H-InvDB links EvolaEvoladN/dS (under constraction); 

Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information  VaryGene Repeat mask viewer
 Single Nucleotide Polymorphism (SNP) and indel  VaryGene
Location Variation dbSNP ID Strand CDS/UTR Translation
20 .. 20 G/A rs147317732 - 5'UTR
138 .. 138 C/T rs1054463 - 5'UTR
201 .. 201 G/A rs143992355 - 5'UTR
202 .. 202 G/A rs188494894 - 5'UTR
296 .. 296 C/T rs201368350 - CDS Nonsynonymous[Ala4Val]
302 .. 302 T/C rs201715947 - CDS Nonsynonymous[Leu6Pro]
357 .. 357 A/G rs3852522 - CDS Synonymous[Leu24Leu]
417 .. 417 C/T rs149717696 - CDS Synonymous[Arg44Arg]
424 .. 424 C/T rs137852766 + CDS AA-STOP[Gln47*]
531 .. 531 G/A rs141005361 - CDS Synonymous[Val82Val]
565 .. 565 A/T rs400377 - CDS Nonsynonymous[Thr94Ser]
737 .. 737 T/C rs385101 - CDS Nonsynonymous[Val151Ala]
761 .. 761 C/T rs372633 - CDS Nonsynonymous[Ala159Val]
804 .. 804 C/A rs399771 - CDS Synonymous[Val173Val]
824 .. 824 C/T rs113374868 - CDS Nonsynonymous[Pro180Leu]
840 .. 840 C/T rs191294997 - CDS Synonymous[Ala185Ala]
846 .. 846 T/C rs384713 - CDS Synonymous[Ala187Ala]
852 .. 852 T/C rs112196492 - CDS Synonymous[Ala189Ala]
878 .. 878 C/G rs2583439 + CDS Nonsynonymous[Pro198Arg]
896 .. 896 C/G rs2583440 + CDS Nonsynonymous[Pro204Arg]
902 .. 902 C/G rs1182342 - CDS Nonsynonymous[Pro206Arg]
935 .. 935 A/T rs3741342 - CDS Nonsynonymous[Asp217Val]
993 .. 993 G/A rs3741341 - CDS Synonymous[Glu236Glu]
1025 .. 1025 C/A rs104894200 + CDS AA-STOP[Ser247*]
1130 .. 1130 C/A/G rs267606716 + CDS
1188 .. 1188 C/A rs1802775 + CDS Synonymous[Ala301Ala]
1345 .. 1345 C/G rs11550171 + 3'UTR
1382 .. 1382 C/T rs13563 + 3'UTR
1509 .. 1509 G/A rs1052593 - 3'UTR
1517 ^ 1518 -/A rs71814716 - 3'UTR
1535 ^ 1536 -/A rs71777161 - 3'UTR
 Microsatellite (Short Tandem Repeat, STR)
No data available
 Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
 Repeat  Repeat mask viewer
No data available
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene;  Repeat mask viewerRepeat Mask Viewer