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H-Invitational ID: HIT000423918 Accession number: AK291121 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: V-type proton ATPase subunit B, kidney isoform; V-ATPase subunit B 1; Endomembrane proton pump 58 kDa subunit; Vacuolar proton pump subunit B 1;
 
 

Transcript original information
Accession number AK291121.1
CAGE tag ID NA
EST ID NA
Clone Number NT2RP2004829
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ; Antibody: searching human antibodies at "BIO-kaimono.com" Antibody (ATP6V1B1) ; Catalog: searching experimental product catalogs at "BIO-kaimono.com" Catalog (ATP6V1B1);
Sequence data provider NA
Annotation project NA
Length of cDNA 1937[bp] (No. of exon:14)[A:418 T:374 G:546 C:599]
Devision HUM
Molecular type mRNA
Library origin Cell type teratocarcinoma
Tissue type NA
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 HIX0023969
Genomic location  G-integra Help Chromosome 2
Location 2p13.3
Position 71162996- 71192550
Strand +
Possible duplicated location(s) NA
Gene structure 14 exon(s)
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:525
KEGG GENES KEGG GENES(525)
GeneCard GeneCardATP6V1B1*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 HIP000030395
Predicted CDS 97..1638;  513[aa];  Orientation:+1; 
Codon Adaptation Index (CAI). 0.821
Database links RefSeq NP_001683
UniProt P15313
CCDS CCDS1912

Motif information
ORF

length(513),orf(97:1638)
MAMEIDSRPGGLPGSSCNLGAAREHMQAVTRNYITHPRVTYRTVCSVNGP
LVVLDRVKFAQYAEIVHFTLPDGTQRSGQVLEVAGTKAIVQVFEGTSGID
ARKTTCEFTGDILRTPVSEDMLGRVFNGSGKPIDKGPVVMAEDFLDINGQ
PINPHSRIYPEEMIQTGISPIDVMNSIARGQKIPIFSAAGLPHNEIAAQI
CRQAGLVKKSKAVLDYHDDNFAIVFAAMGVNMETARFFKSDFEQNGTMGN
VCLFLNLANDPTIERIITPRLALTTAEFLAYQCEKHVLVILTDMSSYAEA
LREVSAAREEVPGRRGFPGYMYTDLATIYERAGRVEGRGGSITQIPILTM
PNDDITHPIPDLTGFITEGQIYVDRQLHNRQIYPPINVLPSLSRLMKSAI
GEGMTRKDHGDVSNQLYACYAIGKDVQAMKAVVGEEALTSEDLLYLEFLQ
KFEKNFINQGPYENRSVFESLDLGWKLLRIFPKEMLKRIPQAVIDEFYSR
EGALQDLAPDTAL*
a.a.
length
InterPro Name
length(463), motif(40:502) 463 IPR005723 ATPase, V1 complex, subunit B [Family]
length(67), motif(44:110) 67 IPR004100 ATPase, F1 complex alpha/beta subunit, N-terminal domain [Domain]
length(289), motif(112:400) 289 IPR027417 P-loop containing nucleoside triphosphate hydrolase [Domain]
length(286), motif(114:399) 286 IPR027417 P-loop containing nucleoside triphosphate hydrolase [Domain]
length(228), motif(166:393) 228 IPR000194 ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain [Domain]
length(10), motif(384:393) 10 IPR020003 ATPase, alpha/beta subunit, nucleotide-binding domain, active site [Active_site]
length(86), motif(411:496) 86 IPR000793 ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal [Domain]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000423918
H-Inv cluster ID Locus viewHIX0023969
Accession number AK291121.1
CAGE tag ID NA
EST ID NA
Transcript feature  Help Representative H-Inv IDRepresentative transcript;  Splicing isoformSplicing isoform
Coding potential  Help Protein coding; 
Definition V-type proton ATPase subunit B, kidney isoform; V-ATPase subunit B 1; Endomembrane proton pump 58 kDa subunit; Vacuolar proton pump subunit B 1;
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (P15313)  [Identity/coverage = 100.0%/100.0%] to Homo sapiens (Human). protein.
Experimental evidence Protein evidence
PubMed ID 252737199167961241481712444018125793971470203915489334ALL
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 ATP6V1B1
HGNC aliases "vacuolar proton pump 3"
HGNC name ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
DDBJ NA
UniProt ATP6V1B1
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 HIP000030395
No. of interaction 1
Interaction partner(s) HIP000059041
BIND NA
DIP NA
MINT NA
HPRD 05222;  05406; 
IntAct NA
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:525
KEGG GENES KEGG GENES(525)
GeneCard GeneCardATP6V1B1*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 ATP binding (GO:0005524);  hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820); 
Biological process ATP metabolic process (GO:0046034);  ATP hydrolysis coupled proton transport (GO:0015991);  proton transport (GO:0015992); 

Subcellular localization information  Last modified:27-May-2015
WoLF PSORT cytosol;  cytoskeleton;  mitochondria; 
Target P Other
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
40 112 1bmfA2 9e-10 23.5 68/71 b.49.1.1
113 395 1bmfD3 3e-77 27.0 270/276 c.37.1.11
374 490 1g4uS1 1e-16 5.6 108/130 a.24.11.1
Related H-InvDB links GTOP GTOP

Disease/pathology information  DiseaseInfo Viewer LEGENDA Last modified:27-May-2015
Disease relation Disease name: Renal tubular acidosis with deafness (267300); 
Related information in OMIM OMIM ID:  192132;  Title: ATPase, H+ TRANSPORTING, LYSOSOMAL, 56/58-KD, V1 SUBUNIT B, ISOFORM
Co-localized orphan diseases NA
Disease related mutation MutationView:  192132
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:(525)
Disease Entrez Gene ID:(525)
Substance Entrez Gene ID:(525)
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) AF435091 G-integraG-integra
Orthology Danio sp. (Zebrafish) AF472614 G-integraG-integra
Orthology Bos sp. (Cow) ENSBTAT00000014039 G-integraG-integra
Orthology Equus sp. (Horse) ENSECAT00000024423 G-integraG-integra
Orthology Oryzias sp. (Medaka) ENSORLT00000001502 G-integraG-integra
Orthology Pongo sp. (Orangutan) ENSPPYT00000014294 G-integraG-integra
Orthology Pan sp. (Chimpanzee) ENSPTRT00000022395 G-integraG-integra
Orthology Tetraodon sp. (Tetraodon) GSTENT00010666001 G-integraG-integra
Orthology Gallus sp. (Chicken) U61724 G-integraG-integra
Orthology Rattus sp. (Rat) XM_001073086 G-integraG-integra
Orthology Macaca sp. (Macaque) XM_001100824 G-integraG-integra
Orthology Monodelphis sp. (Opossum) XM_001365953 G-integraG-integra
Orthology Canis sp. (Dog) XM_531858 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
8 .. 8 A/G rs11685700 + 5'UTR
63 .. 63 C/T rs79652147 + 5'UTR
78 .. 78 C/T rs115563001 + 5'UTR
80 .. 80 C/T rs202030952 + 5'UTR
98 .. 98 T/C rs11681642 + CDS Nonsynonymous[Met1Thr]
100 .. 100 G/T rs142881463 + CDS Nonsynonymous[Ala2Ser]
123 .. 123 T/C rs17853498 + CDS Synonymous[Pro9Pro]
129 .. 129 G/C rs199559744 + CDS Synonymous[Gly11Gly]
136 .. 136 G/A rs111306070 + CDS Nonsynonymous[Gly14Ser]
164 .. 164 G/C rs141116839 + CDS Nonsynonymous[Arg23Pro]
179 .. 179 C/T rs200569195 + CDS Nonsynonymous[Ala28Val]
185 .. 185 C/T rs17720303 + CDS Nonsynonymous[Thr30Ile]
187 .. 187 C/T rs121964879 + CDS AA-STOP[Arg31*]
188 .. 188 G/A rs143516810 + CDS Nonsynonymous[Arg31Gln]
208 .. 208 C/T rs145773738 + CDS Nonsynonymous[Arg38Cys]
234 .. 234 C/T rs2266918 + CDS Synonymous[Ser46Ser]
240 .. 240 C/T rs144845223 + CDS Synonymous[Asn48Asn]
292 .. 292 G/A rs146103071 + CDS Nonsynonymous[Val66Ile]
312 .. 312 T/C rs140021331 + CDS Synonymous[Asp72Asp]
322 .. 322 A/C rs146304463 + CDS Synonymous[Arg76Arg]
327 .. 327 C/T rs151191933 + CDS Synonymous[Ser77Ser]
328 .. 328 G/A rs121964881 + CDS Nonsynonymous[Gly78Arg]
331 .. 331 C/A rs140341636 + CDS Nonsynonymous[Gln79Lys]
338 .. 338 T/C rs121964880 + CDS Nonsynonymous[Leu81Pro]
360 .. 360 G/A rs147576439 + CDS Synonymous[Ala88Ala]
393 .. 393 C/T rs147933361 + CDS Synonymous[Ile99Ile]
401 .. 401 G/A rs202011016 + CDS Nonsynonymous[Arg102Lys]
437 .. 437 G/A rs200269431 + CDS Nonsynonymous[Arg114Gln]
444 .. 444 G/A rs145734697 + CDS Synonymous[Pro116Pro]
458 .. 458 T/A rs201325403 + CDS Nonsynonymous[Met121Lys]
483 .. 483 C/T rs143835931 + CDS Synonymous[Ser129Ser]
519 .. 519 G/A rs141969350 + CDS Synonymous[Ala141Ala]
577 .. 577 G/A rs114234874 + CDS Nonsynonymous[Glu161Lys]
613 .. 613 G/A rs146293474 + CDS Nonsynonymous[Val173Ile]
663 .. 663 C/T rs112442277 + CDS Synonymous[Ala189Ala]
687 .. 687 C/T rs199914263 + CDS Synonymous[Ala197Ala]
688 .. 688 G/A rs148482773 + CDS Nonsynonymous[Ala198Thr]
747 .. 747 T/G rs145196117 + CDS Nonsynonymous[His217Gln]
750 .. 750 C/T rs116139984 + CDS Synonymous[Asp218Asp]
759 .. 759 C/T rs187207556 + CDS Synonymous[Phe221Phe]
766 .. 766 G/A rs202215158 + CDS Nonsynonymous[Val224Ile]
822 .. 822 T/C rs140131920 + CDS Synonymous[Phe242Phe]
846 .. 846 C/T rs185606441 + CDS Synonymous[Asn250Asn]
881 .. 881 C/T rs202100626 + CDS Nonsynonymous[Thr262Met]
886 .. 886 G/C rs200839517 + CDS Nonsynonymous[Glu264Gln]
897 .. 897 C/T rs145380477 + CDS Synonymous[Ile267Ile]
902 .. 902 C/T rs145090491 + CDS Nonsynonymous[Pro269Leu]
903 .. 903 G/A rs142016861 + CDS Synonymous[Pro269Pro]
911 .. 911 C/T rs145735762 + CDS Nonsynonymous[Ala272Val]
971 .. 971 C/T rs141815629 + CDS Nonsynonymous[Thr292Met]
993 .. 993 G/A rs139183119 + CDS Synonymous[Glu299Glu]
1022 .. 1022 A/G rs201556073 + CDS Nonsynonymous[Glu309Gly]
1036 .. 1036 C/T rs147187470 + CDS Nonsynonymous[Arg314Cys]
1039 .. 1039 C/T rs145536062 + CDS AA-STOP[Arg315*]
1088 .. 1088 G/A rs148429410 + CDS Nonsynonymous[Arg331Gln]
1098 .. 1098 T/C rs2072462 + CDS Synonymous[Arg334Arg]
1119 .. 1119 C/T rs117826071 + CDS Synonymous[Ser341Ser]
1123 .. 1123 A/G rs113070242 + CDS Nonsynonymous[Thr343Ala]
1128 .. 1128 G/A rs146844637 + CDS Synonymous[Gln344Gln]
1155 .. 1155 C/T rs200790672 + CDS Synonymous[Asp353Asp]
1184 .. 1184 C/T rs145799342 + CDS Nonsynonymous[Thr363Met]
1196 .. 1196 C/T rs199924171 + CDS Nonsynonymous[Thr367Ile]
1225 .. 1225 C/A rs199595604 + CDS Nonsynonymous[Leu377Ile]
1251 .. 1251 C/A rs149169747 + CDS Synonymous[Pro385Pro]
1295 .. 1295 T/C rs201630416 + CDS Nonsynonymous[Ile400Thr]
1326 .. 1326 A/G rs143225024 + CDS Synonymous[Gly410Gly]
1332 .. 1332 C/G rs147229014 + CDS Synonymous[Val412Val]
1362 .. 1362 C/G rs142779030 + CDS Nonsynonymous[Ile422Met]
1371 .. 1371 C/A rs150773440 + CDS Nonsynonymous[Asp425Glu]
1394 .. 1394 T/C rs149910460 + CDS Nonsynonymous[Val433Ala]
1416 .. 1416 T/G rs147250093 + CDS Synonymous[Ser440Ser]
1424 .. 1424 T/C rs200135789 + CDS Nonsynonymous[Leu443Pro]
1476 .. 1476 C/T rs140722500 + CDS Synonymous[Gly460Gly]
1490 .. 1490 G/A rs142905621 + CDS Nonsynonymous[Arg465His]
1501 .. 1501 G/A rs140980255 + CDS Nonsynonymous[Glu469Lys]
1512 .. 1512 C/G rs138716118 + CDS Nonsynonymous[Asp472Glu]
1544 .. 1544 A/T rs147036242 + CDS Nonsynonymous[Lys483Met]
1589 .. 1589 A/G rs201234802 + CDS Nonsynonymous[Tyr498Cys]
1591 .. 1591 T/C rs144261150 + CDS Nonsynonymous[Ser499Pro]
1644 .. 1644 C/A rs45498896 + 3'UTR
1650 .. 1650 G/A rs77794859 + 3'UTR
1706 .. 1706 C/T rs144725809 + 3'UTR
1718 .. 1718 C/T rs117574187 + 3'UTR
1724 .. 1724 C/T rs71414852 + 3'UTR
1727 .. 1727 C/T rs3180578 + 3'UTR
1740 .. 1740 C/T rs147915200 + 3'UTR
1926 .. 1926 A/T rs182807043 + 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