H-InvDB x AHG DB
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H-Invitational ID: HIT000034607 Accession number: BC009835 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Progressive ankylosis protein homolog; ANK;
 
 

Transcript original information
Accession number BC009835.2
CAGE tag ID NA
EST ID NA
Clone Number MGC:15102 IMAGE:3927236
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ; Antibody: searching human antibodies at "BIO-kaimono.com" Antibody (ANKH) ; Catalog: searching experimental product catalogs at "BIO-kaimono.com" Catalog (ANKH);
Sequence data provider Provider:MGC/NCI; 
Annotation project H-Invitational FLcDNA
Length of cDNA 1892[bp] (No. of exon:12)[A:404 T:437 G:522 C:529]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type Ovary, adenocarcinoma
Develpmental stage NA
Mini-G
Sequence quality information
CDS feature Complete CDS
Kozak sequence NA
PolyA Site: 1866(+)
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 HIX0004761
Genomic location  G-integra Help Chromosome 5
Location 5p15.2
Position 14711175- 14871820
Strand -
Possible duplicated location(s) NA
Gene structure 12 exon(s)
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:56172; 
KEGG GENES KEGG GENES(56172); 
GeneCard GeneCardANKH;  *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 HIP000111466
Predicted CDS 257..1735;  492[aa];  Orientation:+2; 
Codon Adaptation Index (CAI). 0.78
Database links RefSeq NP_473368; 
UniProt Q9HCJ1; 
CCDS CCDS3885; 

Motif information
ORF

length(492),orf(257:1735) MVKFPALTHYWPLIRFLVPLGITNIAIDFGEQALNRGIAAVKEDAVEMLA SYGLAYSLMKFFTGPMSDFKNVGLVFVNSKRDRTKAVLCMVVAGAIAAVF HTLIAYSDLGYYIINKLHHVDESVGSKTRRAFLYLAAFPFMDAMAWTHAG ILLKHKYSFLVGCASISDVIAQVVFVAILLHSHLECREPLLIPILSLYMG ALVRCTTLCLGYYKNIHDIIPDRSGPELGGDATIRKMLSFWWPLALILAT QRISRPIVNLFVSRDLGGSSAATEAVAILTATYPVGHMPYGWLTEIRAVY PAFDKNNPSNKLVSTSNTVTAAHIKKFTFVCMALSLTLCFVMFWTPNVSE KILIDIIGVDFAFAELCVVPLRIFSFFPVPVTVRAHLTGWLMTLKKTFVL APSSVLRIIVLIASLVVLPYLGVHGATLGVGSLLAGFVGESTMVAIAACY VYRKQKKKMENESATEGEDSAMTDMPPTEEVTDIVEMREENE* 		a.a.
length		 InterPro Name
length(345), motif(1:345) 345 IPR009887 Progressive ankylosis [Family]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000034607
H-Inv cluster ID Locus viewHIX0004761
Accession number BC009835.2
CAGE tag ID NA
EST ID NA
Transcript feature  Help NO; 
Coding potential  Help Protein coding; 
Definition Progressive ankylosis protein homolog; ANK;
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (Q9HCJ1)  [Identity/coverage = 100.0%/100.0%] to Homo sapiens (Human). protein.
Experimental evidence Protein evidence
PubMed ID 10894769;  10997877;  11326272;  11326338;  12297987;  12297989;  12975309;  13130483;  14702039;  15489334;  ALL; 
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 ANKH
HGNC aliases "ankylosis, progressive (mouse) homolog", "craniometaphyseal dysplasia, Jackson type (dominant)", "ankylosis, progressive homolog (mouse)"
HGNC name ANKH inorganic pyrophosphate transport regulator
DDBJ ANKH
UniProt ANKH
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 HIP000111466
No. of interaction 20
Interaction partner(s) HIP000016098;  HIP000020996;  HIP000020996;  HIP000029741;  HIP000035510;  HIP000042392;  HIP000043599;  HIP000054525;  HIP000060755;  HIP000063308;  HIP000070482;  HIP000081541;  HIP000085407;  HIP000093411;  HIP000095166;  HIP000105772;  HIP000113957;  HIP000182418;  HIP000236471;  HIP000237072; 
BIND NA
DIP NA
MINT NA
HPRD 01038; 
IntAct NA
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:56172; 
KEGG GENES KEGG GENES(56172); 
GeneCard GeneCardANKH;  *GeneCards is provided free to academic non-profit institutions.
etc H-GOLDHuman-Gene diversity Of Life-style related Diseases; 
Curation status Auto-annotated
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 phosphate transporter activity (GO:0015114); 
Cellular component integral to membrane (GO:0016021); 

Subcellular localization information  Last modified:27-May-2015
WoLF PSORT plasma membrane;  endoplasmic; 
Target P signal peptide
SOSUI membrane protein
TMHMM membrane 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 AGhsB251619; 
Affymetrix
GeneChip		 HG-Focus NA
HG-U133 223094_s_at; 
HG-U133A NA
HG-U133A_2 NA
HG-U133B 223094_s_at; 
HG-U133_Plus_2 223094_s_at; 
HG-U95 56487_at;  56489_g_at; 
HG-U95A NA
HG-U95B 56487_at;  56489_g_at; 
HG-U95C NA
HG-U95D NA
HG-U95E NA
HG-U95Av2 NA
HuEx-1_0 2802781;  2802827;  2849480;  2849481;  2849493;  2849506;  2849509;  2849512;  2849514;  2849517;  2849525;  2849526;  2849531;  2849586;  2849587; 
HuGeneFL NA
Agilent Human 1A Oligo Microarray:PGID215 A_23_P213766; 
Whole Human Genome Oligo Microarray:PGID247 A_23_P213766; 
Related H-InvDB links H-ANGELH-ANGEL;  DNAProbeLocatorDNAProbeLocator; 

Disease/pathology information  DiseaseInfo Viewer LEGENDA Last modified:27-May-2015
Disease relation Disease name: Chondrocalcinosis 2 (118600);  Disease name: Craniometaphyseal dysplasia (123000); 
Related information in OMIM OMIM ID:  605145;  Title: ANK, MOUSE, HOMOLOG OF
Co-localized orphan diseases NA
Disease related mutation MutationView:  605145; 
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:(56172)
Disease Entrez Gene ID:(56172)
Substance Entrez Gene ID:(56172)
Related H-InvDB links DiseaseInfo ViewerDiseaseInfo Viewer;  LEGENDALEGENDA; 

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
253 .. 253 G/A rs78431233 - 5'UTR
269 .. 269 C/A rs121908410 + CDS Nonsynonymous[Pro5Thr]
270 .. 270 C/T rs121908409 + CDS Nonsynonymous[Pro5Leu]
283 .. 283 C/T rs199583793 - CDS Synonymous[His9His]
290 .. 290 C/T rs146119298 - CDS Nonsynonymous[Pro12Ser]
358 .. 358 G/A rs116591972 - CDS Synonymous[Leu34Leu]
399 .. 399 T/C rs121908407 + CDS Nonsynonymous[Met48Thr]
406 .. 406 C/T rs201469678 - CDS Synonymous[Ala50Ala]
421 .. 421 G/A rs111592868 - CDS Synonymous[Ala55Ala]
486 .. 486 T/C rs201829107 - CDS Nonsynonymous[Val77Ala]
511 .. 511 A/G rs138113627 - CDS Synonymous[Lys85Lys]
514 .. 514 C/T rs74355706 - CDS Synonymous[Ala86Ala]
535 .. 535 A/C rs74474349 - CDS Synonymous[Ala93Ala]
537 .. 537 G/A rs77252527 - CDS Nonsynonymous[Gly94Glu]
550 .. 550 C/T rs17251667 - CDS Synonymous[Ala98Ala]
583 .. 583 A/G rs113374603 - CDS Synonymous[Leu109Leu]
625 .. 625 G/A rs145463643 - CDS Synonymous[Ser123Ser]
661 .. 661 C/T rs149656955 - CDS Synonymous[Leu135Leu]
667 .. 667 C/G rs140782258 - CDS Synonymous[Ala137Ala]
686 .. 686 A/G rs201325239 - CDS Nonsynonymous[Met144Val]
690 .. 690 C/A rs6877337 - CDS Nonsynonymous[Ala145Glu]
816 .. 816 G/A rs146886108 - CDS Nonsynonymous[Arg187Gln]
835 .. 835 G/A rs143894283 - CDS Synonymous[Pro193Pro]
841 .. 841 C/T rs200216941 - CDS Synonymous[Leu195Leu]
856 .. 856 C/T rs140150501 - CDS Synonymous[Gly200Gly]
887 .. 887 G/A rs150656532 - CDS Nonsynonymous[Gly211Ser]
924 .. 924 G/T rs142872069 - CDS Nonsynonymous[Arg223Ile]
933 .. 933 C/T rs148526515 - CDS Nonsynonymous[Pro226Leu]
937 .. 937 G/A rs144687394 - CDS Synonymous[Glu227Glu]
938 .. 938 C/T rs143039581 - CDS Synonymous[Leu228Leu]
940 .. 940 G/A rs200119947 - CDS Synonymous[Leu228Leu]
1093 .. 1093 G/T rs199806240 + CDS Nonsynonymous[Leu279Phe]
1100 .. 1100 A/G rs200725355 - CDS Nonsynonymous[Thr282Ala]
1102 .. 1102 A/G rs139013878 - CDS Synonymous[Thr282Thr]
1126 .. 1126 C/T rs111688928 - CDS Synonymous[Tyr290Tyr]
1138 .. 1138 G/A rs147231935 - CDS Synonymous[Thr294Thr]
1142 .. 1142 A/G rs143724823 - CDS Nonsynonymous[Ile296Val]
1197 .. 1197 G/T rs201629856 - CDS Nonsynonymous[Ser314Ile]
1219 .. 1219 A/G rs2288474 - CDS Synonymous[Ala321Ala]
1243 .. 1243 C/T rs150338234 - CDS Synonymous[Phe329Phe]
1256 .. 1256 C/G rs199961741 - CDS Nonsynonymous[Leu334Val]
1277 .. 1277 G/A rs199664007 - CDS Nonsynonymous[Val341Met]
1296 .. 1296 A/G rs150301410 - CDS Nonsynonymous[Asn347Ser]
1297 .. 1297 C/T rs140211368 - CDS Synonymous[Asn347Asn]
1298 .. 1298 G/A rs148228793 - CDS Nonsynonymous[Val348Met]
1341 .. 1341 C/A rs143066052 - CDS Nonsynonymous[Ala362Asp]
1371 .. 1371 G/A rs140846154 - CDS Nonsynonymous[Arg372Gln]
1411 .. 1411 G/A rs146419748 - CDS Synonymous[Ala385Ala]
1420 .. 1420 C/T rs112486043 - CDS Synonymous[Thr388Thr]
1421 .. 1421 G/A rs28939080 + CDS Nonsynonymous[Gly389Arg]
1423 .. 1423 G/C rs141377885 - CDS Synonymous[Gly389Gly]
1440 .. 1440 A/C rs138378021 - CDS Nonsynonymous[Lys395Thr]
1483 .. 1483 C/T rs145363910 - CDS Synonymous[Ile409Ile]
1493 .. 1493 G/A rs112513380 - CDS Nonsynonymous[Ala413Thr]
1528 .. 1528 C/T rs201295416 - CDS Synonymous[His424His]
1536 .. 1536 C/T rs200410815 - CDS Nonsynonymous[Thr427Ile]
1588 .. 1588 C/T rs139351002 - CDS Synonymous[Val444Val]
1600 .. 1600 G/A rs199586645 - CDS Synonymous[Ala448Ala]
1645 .. 1645 G/A rs202200884 - CDS Synonymous[Ser463Ser]
1687 .. 1687 G/A rs151281757 - CDS Synonymous[Pro477Pro]
1709 .. 1709 G/A rs143550972 - CDS Nonsynonymous[Val485Met]
1723 .. 1723 G/A rs200591342 - CDS Synonymous[Glu489Glu]
1746 .. 1746 G/C/A rs111369645 - 3'UTR
1766 .. 1766 A/G rs3045 - 3'UTR
1832 .. 1832 T/- rs71708419 - 3'UTR
1833 .. 1833 G/T rs11549562 + 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;