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H-Invitational ID: HIT000051353 Accession number: BC035234 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Similar to Ankyrin repeat domain-containing protein 53 isoform b.
 
 

Transcript original information
Accession number BC035234.1
CAGE tag ID NA
EST ID NA
Clone Number MGC:35073 IMAGE:5166484
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ; Antibody: searching human antibodies at "BIO-kaimono.com" Antibody (ANKRD53) ; Catalog: searching experimental product catalogs at "BIO-kaimono.com" Catalog (ANKRD53);
Sequence data provider Provider:MGC/NCI
Annotation project H-Invitational FLcDNA
Length of cDNA 2010[bp] (No. of exon:7)[A:475 T:317 G:557 C:661]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type Brain, adult medulla
Develpmental stage NA
Mini-G
Sequence quality information
CDS feature Complete CDS
Kozak sequence NA
PolyA Site: 1961(+)
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 HIX0002144
Genomic location  G-integra Help Chromosome 2
Location 2p13.3
Position 71205575- 71212470
Strand +
Possible duplicated location(s) NA
Gene structure 7 exon(s)
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:79998
KEGG GENES KEGG GENES(79998)
GeneCard GeneCardANKRD53*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 HIP000033319
Predicted CDS 202..1233;  343[aa];  Orientation:+1; 
Codon Adaptation Index (CAI). 0.8

Motif information
ORF

length(343),orf(202:1233)
MASAGSTARRAGSGSWHSERGEGRGARPQPTPSGSMQQANKVSLKATWTD
AESKQPSQPLPDLADHLSAQATALARPRRPASLTPPRADPSPSKESDQTA
IDQTAIGSYYQLFAAAVGNVEWLRFCLNQSLREIPTDDKGFTAIHFAAQW
GKIACLQVLVEEYKFPVDLLTNNSQTPLHLVIHRDNTTVALPCIYYLLEK
GADLNAQTCNGSTPLHLAARDGLLDCVKVLVQSGANVHAQDAMGYKPIDF
CKIWNHRACARFLKDAMWKKDKKDFAREMTKMKMFKSQLTLMEHNYLIEY
QGQGCSVHFPFAFSPITPETLLWQDISLLSDCGFLWRRRELSF*
a.a.
length
InterPro Name
length(158), motif(106:263) 158 IPR020683 Ankyrin repeat-containing domain [Domain]
length(164), motif(113:276) 164 IPR020683 Ankyrin repeat-containing domain [Domain]
length(31), motif(139:169) 31 IPR002110 Ankyrin repeat [Repeat]
length(136), motif(140:275) 136 IPR020683 Ankyrin repeat-containing domain [Domain]
length(16), motif(140:155) 16 IPR002110 Ankyrin repeat [Repeat]
length(34), motif(173:206) 34 IPR002110 Ankyrin repeat [Repeat]
length(37), motif(173:209) 37 IPR002110 Ankyrin repeat [Repeat]
length(89), motif(178:266) 89 IPR020683 Ankyrin repeat-containing domain [Domain]
length(15), motif(193:207) 15 IPR002110 Ankyrin repeat [Repeat]
length(30), motif(210:239) 30 IPR002110 Ankyrin repeat [Repeat]
length(33), motif(210:242) 33 IPR002110 Ankyrin repeat [Repeat]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000051353
H-Inv cluster ID Locus viewHIX0002144
Accession number BC035234.1
CAGE tag ID NA
EST ID NA
Transcript feature  Help Representative H-Inv IDRepresentative transcript;  Splicing isoformSplicing isoform
Coding potential  Help Protein coding; 
Definition Similar to Ankyrin repeat domain-containing protein 53 isoform b.
Similarity category  Help Category: Similar to known protein(Category II).
Similar to known protein (NP_079209)  [Identity/coverage = 99.708%/100.0%] to Homo sapiens protein.
Experimental evidence Protein evidence
PubMed ID NA
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 ANKRD53
HGNC aliases NA
HGNC name ankyrin repeat domain 53
DDBJ ANKRD53
UniProt NA
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 HIP000033319
No. of interaction NA
Interaction partner(s) NA
BIND NA
DIP NA
MINT NA
HPRD NA
IntAct NA
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:79998
KEGG GENES KEGG GENES(79998)
GeneCard GeneCardANKRD53*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 protein binding (GO:0005515); 

Subcellular localization information  Last modified:27-May-2015
WoLF PSORT nuclear;  cytosol; 
Target P Not predicted
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.

Protein structure information (GTOP) GTOP Last modified:27-May-2015
Start End PDB_ID E-value Identity Coverage SCOP_ID
112 264 1awcB 5e-23 27.2 147/153 d.211.1.1
Related H-InvDB links GTOP GTOP

Gene expression information  H-ANGEL DNAProbeLocator Last modified:27-May-2015
Tissue-specific expression  H-ANGEL NA
Probe
information DNAProbeLocator
AceGene AGhsB071602; 
Affymetrix
GeneChip
HG-Focus NA
HG-U133 215759_at;  244453_at; 
HG-U133A 215759_at; 
HG-U133A_2 215759_at; 
HG-U133B 244453_at; 
HG-U133_Plus_2 215759_at;  244453_at; 
HG-U95 53628_at; 
HG-U95A NA
HG-U95B NA
HG-U95C 53628_at; 
HG-U95D NA
HG-U95E NA
HG-U95Av2 NA
HuEx-1_0 2487964;  2487965;  2487967;  2487968;  2487969;  2487971;  2487973;  2487975;  2487978;  2487980;  2487981;  2487982; 
HuGeneFL NA
Agilent Human 1A Oligo Microarray:PGID215 NA
Whole Human Genome Oligo Microarray:PGID247 A_24_P162979;  A_24_P371184; 
Related H-InvDB links H-ANGELH-ANGEL DNAProbeLocatorDNAProbeLocator

Evolutionary information  Evola Help Last modified:27-May-2015
Relationship Species Accession number MGI Links
Orthology Mus sp. (Mouse) AK133099 MGI:3534349 G-integraG-integra
Orthology Bos sp. (Cow) ENSBTAT00000014047 G-integraG-integra
Orthology Macaca sp. (Macaque) ENSMMUT00000043508 G-integraG-integra
Orthology Pongo sp. (Orangutan) ENSPPYT00000014293 G-integraG-integra
Orthology Pan sp. (Chimpanzee) XM_001145845 G-integraG-integra
Orthology Equus sp. (Horse) XM_001492498 G-integraG-integra
Orthology Canis sp. (Dog) XM_531859 G-integraG-integra
Orthology Rattus sp. (Rat) XR_008869 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
337 .. 337 G/A rs200334183 + CDS Nonsynonymous[Ala46Thr]
399 .. 399 C/T rs11549805 + CDS Synonymous[His66His]
412 .. 412 G/A rs57527165 + CDS Nonsynonymous[Ala71Thr]
432 .. 432 G/C rs144533261 + CDS Synonymous[Pro77Pro]
434 .. 434 G/A rs148041218 + CDS Nonsynonymous[Arg78His]
460 .. 460 C/T rs150548571 + CDS Nonsynonymous[Arg87Cys]
461 .. 461 G/A rs143122611 + CDS Nonsynonymous[Arg87His]
474 .. 474 C/G rs113778540 + CDS Nonsynonymous[Ser91Arg]
489 .. 489 C/G rs201198305 + CDS Synonymous[Ser96Ser]
515 .. 515 C/G rs35096506 - CDS Nonsynonymous[Ala105Gly]
520 .. 520 G/A rs199966952 + CDS Nonsynonymous[Gly107Arg]
529 .. 529 T/G rs145335113 + CDS Nonsynonymous[Tyr110Asp]
532 .. 532 C/T rs142338899 + CDS AA-STOP[Gln111*]
546 .. 546 G/A rs147026593 + CDS Synonymous[Ala115Ala]
658 .. 658 A/C rs17853403 + CDS Nonsynonymous[Ile153Leu]
679 .. 679 G/A rs140379785 + CDS Nonsynonymous[Val160Ile]
722 .. 722 G/A rs150385053 + CDS Nonsynonymous[Ser174Asn]
741 .. 741 C/T rs143137377 + CDS Synonymous[Leu180Leu]
742 .. 742 G/A rs141661790 + CDS Nonsynonymous[Val181Ile]
744 .. 744 C/T rs202025375 + CDS Synonymous[Val181Val]
799 .. 799 A/T rs139132664 + CDS AA-STOP[Lys200*]
804 .. 804 C/T rs142005066 + CDS Synonymous[Gly201Gly]
805 .. 805 G/A rs149813455 + CDS Nonsynonymous[Ala202Thr]
817 .. 817 G/T rs201192206 + CDS Nonsynonymous[Ala206Ser]
818 .. 818 C/G rs147933653 + CDS Nonsynonymous[Ala206Gly]
839 .. 839 C/T rs147663052 + CDS Nonsynonymous[Thr213Met]
891 .. 891 G/A rs184969694 + CDS Synonymous[Leu230Leu]
929 .. 929 T/C rs36123544 - CDS Nonsynonymous[Met243Thr]
933 .. 933 C/T rs144749045 + CDS Synonymous[Gly244Gly]
944 .. 944 T/C rs201964284 + CDS Nonsynonymous[Ile248Thr]
970 .. 970 C/G rs138702951 + CDS Nonsynonymous[Arg257Gly]
971 .. 971 G/A rs117051248 + CDS Nonsynonymous[Arg257His]
982 .. 982 C/T rs201276599 + CDS Nonsynonymous[Arg261Trp]
990 .. 990 G/A rs74696086 + CDS Synonymous[Leu263Leu]
1028 .. 1028 C/T rs187992279 + CDS Nonsynonymous[Ala276Val]
1031 .. 1031 G/A rs202171427 + CDS Nonsynonymous[Arg277His]
1059 .. 1059 G/C rs148787552 + CDS Nonsynonymous[Lys286Asn]
1072 .. 1072 C/T rs180808804 + CDS Nonsynonymous[Leu291Phe]
1075 .. 1075 A/G rs149422719 + CDS Nonsynonymous[Met292Val]
1102 .. 1102 C/T rs62145100 + CDS AA-STOP[Gln301*]
1193 .. 1193 A/G rs145634727 + CDS Nonsynonymous[Asp331Gly]
1242 .. 1242 A/C rs61751874 + 3'UTR
1279 .. 1279 C/T rs182279308 + 3'UTR
1300 .. 1300 C/T rs61750014 + 3'UTR
1306 .. 1306 G/A rs3796098 + 3'UTR
1321 .. 1321 G/C rs200216429 + 3'UTR
1326 .. 1326 C/T rs201236100 + 3'UTR
1374 .. 1374 G/A/T rs11688921 + 3'UTR
1389 .. 1389 A/G rs192467128 + 3'UTR
1480 .. 1480 G/A/C rs3796099 + 3'UTR
1620 .. 1620 A/T rs3796100 + 3'UTR
1621 .. 1621 C/T rs61732224 + 3'UTR
1779 .. 1779 G/A rs75182953 + 3'UTR
1784 .. 1784 C/T rs56204570 + 3'UTR
1791 .. 1791 T/G rs61735674 + 3'UTR
1827 .. 1827 T/C rs11673798 + 3'UTR
1871 .. 1871 C/A rs61732288 + 3'UTR
1872 .. 1872 G/A rs141581897 + 3'UTR
1896 .. 1896 T/C rs61732279 + 3'UTR
1923 .. 1923 T/G rs10460571 + 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