H-InvDB x AHG DB
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H-InvDB_8.3 released on March 26, 2013.
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H-Invitational ID: HIT000000192 Accession number: AB007944 Created date: 26-Mar-2013 Last modified: 20-Apr-2012
Definition: Glycosaminoglycan xylosylkinase precursor.
 
 

Transcript original information
Accession number AB007944.1
CAGE tag ID NA
EST ID NA
Clone Number HH0451
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ; Antibody: searching human antibodies at "BIO-kaimono.com" Antibody (FAM20B) ; Catalog: searching experimental product catalogs at "BIO-kaimono.com" Catalog (FAM20B);
Sequence data provider Provider:KDRI
Annotation project H-Invitational FLcDNA
Length of cDNA 5983[bp] (No. of exon:8)[A:1690 T:1662 G:1404 C:1227]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type brain
Develpmental stage NA
Mini-G
Sequence quality information
CDS feature Complete CDS
Kozak sequence NA
PolyA NA
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 HIX0001372
Genomic location  G-integra Help Chromosome 1
Location 1q25.2
Position 178995031- 179045697
Strand +
Possible duplicated location(s) NA
Gene structure 8 exon(s)
Database links RefSeq NM_014864
Ensembl ENST00000263733ENST00000440702
Entrez Gene Entrez Gene ID:9917
KEGG GENES KEGG GENES(9917)
GeneCard GeneCardFAM20B*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 HIP000068238
Predicted CDS 337..1566;  409[aa];  Orientation:+1; 
Codon Adaptation Index (CAI). 0.768
Database links RefSeq NP_055679
UniProt O75063
CCDS CCDS1328

Motif information
ORF

length(409),orf(337:1566)
MKLKQRVVLLAILLVIFIFTKVFLIDNLDTSAANREDQRAFHRMMTGLRV
ELAPKLDHTLQSPWEIAAQWVVPREVYPEETPELGAVMHAMATKKIIKAD
VGYKGTQLKALLILEGGQKVVFKPKRYSRDHVVEGEPYAGYDRHNAEVAA
FHLDRILGFHRAPLVVGRFVNLRTEIKPVATEQLLSTFLTVGNNTCFYGK
CYYCRETEPACADGDIMEGSVTLWLPDVWPLQKHRHPWGRTYREGKLARW
EYDESYCDAVKKTSPYDSGPRLLDIIDTAVFDYLIGNADRHHYESFQDDE
GASMLILLDNAKSFGNPSLDERSILAPLYQCCIIRVSTWNRLNYLKNGVL
KSALKSAMAHDPISPVLSDPHLDAVDQRLLSVLATVKQCTDQFGMDTVLV
EDRMPLSHL*
a.a.
length
InterPro Name
length(384), motif(14:397) 384 IPR009581 Protein of unknown function DUF1193 [Family]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000000192
H-Inv cluster ID Locus viewHIX0001372
Accession number AB007944.1
CAGE tag ID NA
EST ID NA
Transcript feature  Help Representative H-Inv IDRepresentative transcript; 
Coding potential  Help Protein coding; 
Definition Glycosaminoglycan xylosylkinase precursor.
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (NP_055679)  [Identity/coverage = 100.0%/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 FAM20B
HGNC aliases NA
HGNC name family with sequence similarity 20, member B
DDBJ KIAA0475
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 HIP000068238
No. of interaction NA
Interaction partner(s) NA
BIND NA
DIP NA
MINT NA
HPRD NA
IntAct NA
Database links RefSeq NM_014864
Ensembl ENST00000263733ENST00000440702
Entrez Gene Entrez Gene ID:9917
KEGG GENES KEGG GENES(9917)
GeneCard GeneCardFAM20B*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


Subcellular localization information  Last modified:20-Apr-2012
WoLF PSORT extracellular;  golgi apparatus;  lysosome;  Other; 
Target P signal peptide
SOSUI membrane protein
TMHMM membrane protein
PTS1 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:20-Apr-2012
Tissue-specific expression  H-ANGEL NA
Probe
information DNAProbeLocator
AceGene AGhsA250414; 
Affymetrix
GeneChip
HG-Focus NA
HG-U133 202915_s_at;  202916_s_at; 
HG-U133A 202915_s_at;  202916_s_at; 
HG-U133A_2 202915_s_at;  202916_s_at; 
HG-U133B NA
HG-U133_Plus_2 202915_s_at;  202916_s_at; 
HG-U95 35318_at; 
HG-U95A 35318_at; 
HG-U95B NA
HG-U95C NA
HG-U95D NA
HG-U95E NA
HG-U95Av2 NA
HuEx-1_0 2369465;  2369469;  2369470;  2369471;  2369472;  2369474;  2369475;  2369477;  2369479;  2369480;  2369481;  2446036;  2446038;  2651759;  4026876; 
HuGeneFL NA
Agilent Human 1A Oligo Microarray:PGID215 A_23_P103923; 
Whole Human Genome Oligo Microarray:PGID247 A_23_P103923;  A_24_P148043;  A_24_P160649; 
Related H-InvDB links H-ANGELH-ANGEL DNAProbeLocatorDNAProbeLocator

Disease/pathology information  DiseaseInfo Viewer LEGENDA Last modified:20-Apr-2012
Disease relation Disease name:NA
Related information in OMIM OMIM ID:NA Title:NA
Co-localized orphan diseases OMIM ID:  115665116600155600600975605225605606606788606852606928607317607671608543608553608995610320612367612596
Disease related mutation NA
Literature-Extracted GENe-Disease Associations (LEGENDA) LEGENDA Gene name Entrez Gene ID:(9917)
Disease Entrez Gene ID:(9917)
Substance Entrez Gene ID:(9917)
Related H-InvDB links DiseaseInfo ViewerDiseaseInfo ViewerLEGENDALEGENDA

Evolutionary information  Evola Help Last modified:20-Apr-2012
Relationship Species Accession number MGI Links
Orthology Gallus sp. (Chicken) AJ720888 G-integraG-integra
Orthology Mus sp. (Mouse) BC023737 MGI:2443990 G-integraG-integra
Orthology Danio sp. (Zebrafish) BC115339 G-integraG-integra
Orthology Bos sp. (Cow) ENSBTAT00000018604 G-integraG-integra
Orthology Canis sp. (Dog) ENSCAFT00000022098 G-integraG-integra
Orthology Monodelphis sp. (Opossum) ENSMODT00000007653 G-integraG-integra
Orthology Oryzias sp. (Medaka) ENSORLT00000018248 G-integraG-integra
Orthology Pongo sp. (Orangutan) ENSPPYT00000000557 G-integraG-integra
Orthology Tetraodon sp. (Tetraodon) GSTENT00020514001 G-integraG-integra
Orthology Takifugu sp. (Fugu) NM_001048041 G-integraG-integra
Orthology Rattus sp. (Rat) XM_001068245 G-integraG-integra
Orthology Macaca sp. (Macaque) XM_001115532 G-integraG-integra
Orthology Equus sp. (Horse) XM_001916737 G-integraG-integra
Orthology Pan sp. (Chimpanzee) XM_514027 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
301 .. 301 C/G rs72707294 + 5'UTR
316 .. 316 G/A rs111851052 + 5'UTR
558 .. 558 G/A rs11802142 + CDS Synonymous[Arg74Arg]
747 .. 747 G/A rs61731084 + CDS Synonymous[Pro137Pro]
975 .. 975 T/G rs115005196 + CDS Nonsynonymous[Asp213Glu]
1424 .. 1424 T/C rs112282462 + CDS Nonsynonymous[Ile363Thr]
1597 .. 1597 T/C rs73045635 + 3'UTR
1678 .. 1678 A/G rs4456058 + 3'UTR
1685 .. 1685 G/A rs2025584 - 3'UTR
1988 .. 1988 T/- rs11299711 + 3'UTR
1990 .. 1990 T/- rs58197730 + 3'UTR
2047 .. 2047 C/A rs77755493 + 3'UTR
2114 .. 2114 A/G rs115929400 + 3'UTR
2140 .. 2140 T/C rs112020970 + 3'UTR
2227 ^ 2228 -/G rs34534731 + 3'UTR
2256 .. 2256 G/T rs9726948 + 3'UTR
2376 .. 2376 A/C rs116234027 + 3'UTR
2378 .. 2378 A/G rs16853612 + 3'UTR
2513 .. 2513 C/T rs9725887 + 3'UTR
2556 .. 2556 T/C rs9725888 + 3'UTR
2586 .. 2586 A/C rs4652352 + 3'UTR
2602 .. 2602 C/T rs72709441 + 3'UTR
2625 ^ 2626 -/C rs35222556 + 3'UTR
2736 .. 2736 G/T rs4652353 + 3'UTR
2744 .. 2744 C/T rs114807247 + 3'UTR
2746 .. 2746 T/C rs34488634 + 3'UTR
2810 .. 2810 C/T rs4652354 + 3'UTR
3198 .. 3198 T/G rs79542318 + 3'UTR
3267 .. 3267 G/C rs56006430 + 3'UTR
3297 .. 3297 C/A rs9730439 + 3'UTR
3825 .. 3825 G/T/C/A rs3766626 - 3'UTR
3834 ^ 3835 -/C rs35980145 + 3'UTR
3839 .. 3839 G/A rs3766625 - 3'UTR
4225 .. 4225 G/A rs16853619 + 3'UTR
4469 ^ 4470 -/G rs35292643 + 3'UTR
4486 .. 4486 G/C rs116023119 + 3'UTR
4588 .. 4588 G/A rs2018786 + 3'UTR
4692 .. 4692 A/T rs74837593 + 3'UTR
4858 .. 4858 C/T rs78609757 + 3'UTR
4985 .. 4985 C/T rs115052587 + 3'UTR
4991 .. 4991 A/G rs76363748 + 3'UTR
5009 .. 5009 A/G rs16853621 + 3'UTR
5089 .. 5089 A/T rs80245804 + 3'UTR
5291 .. 5291 A/G rs2147768 - 3'UTR
5641 .. 5641 G/C rs61823795 + 3'UTR
5643 .. 5643 C/T rs61823796 + 3'UTR
5653 ^ 5654 -/T rs71700716 + 3'UTR
5759 .. 5759 G/A rs9249 + 3'UTR
5768 .. 5768 A/C rs115640057 + 3'UTR
5772 .. 5772 A/G rs117216397 + 3'UTR
5779 .. 5779 A/C rs116166770 + 3'UTR
5786 .. 5786 C/A rs1220 + 3'UTR
5834 .. 5834 G/T rs11540488 - 3'UTR
5838 .. 5838 T/A rs15325 + 3'UTR
 Microsatellite (Short Tandem Repeat, STR)
Location Variation Strand
75..89 (ggc)5 +
 Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
 Repeat  Repeat mask viewer
Type Start End Strand
AluSx1 2727 3043 -
AluSx 4330 4625 +
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene Repeat mask viewerRepeat Mask Viewer