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: HIT000039575 Accession number: BC022486 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Aquaporin-1; AQP-1; Aquaporin-CHIP; Urine water channel; Water channel protein for red blood cells and kidney proximal tubule;
 
 

Transcript original information
Accession number BC022486.1
CAGE tag ID NA
EST ID NA
Clone Number MGC:26324 IMAGE:4799283
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ;
Sequence data provider Provider:MGC/NCI
Annotation project H-Invitational FLcDNA
Length of cDNA 2764[bp] (No. of exon:4)[A:602 T:630 G:745 C:787]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type Brain, hypothalamus
Develpmental stage NA
Mini-G
Sequence quality information
CDS feature Complete CDS
Kozak sequence NA
PolyA Site: 2749(+) Signal: 2729-2733(+)
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 HIX0006573
Genomic location  G-integra Help Chromosome 7
Location 7p14.3
Position 30951468- 30965126
Strand +
Possible duplicated location(s) NA
Gene structure 4 exon(s)
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:358
KEGG GENES KEGG GENES(358)
GeneCard NA *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 HIP000033571
Predicted CDS 58..867;  269[aa];  Orientation:+1; 
Codon Adaptation Index (CAI). 0.82

Motif information
ORF

length(269),orf(58:867)
MASEFKKKLFWRAVVAEFLATTLFVFISIGSALGFKYPVGNNQTTVQDNV
KVSLAFGLSIATLAQSVGHISGAHLNPAVTLGLLLSCQISIFRALMYIIA
QCVGAIVATAILSGITSSLTGNSLGRNDLADGVNSGQGLGIEIIGTLQLV
LCVLATTDRRRRDLGGSAPLAIGLSVALGHLLAIDYTGCGINPARSFGSA
VITHNFSNHWIFWVGPFIGGALAVLIYDFILAPRSSDLTDRVKVWTSGQV
EEYDLDADDINSRVEMKPK*
a.a.
length
InterPro Name
length(12), motif(1:12) 12 IPR023274 Aquaporin 1 [Family]
length(233), motif(4:236) 233 IPR023271 Aquaporin-like [Domain]
length(234), motif(4:237) 234 IPR023271 Aquaporin-like [Domain]
length(266), motif(4:269) 266 IPR000425 Major intrinsic protein [Family]
length(223), motif(5:227) 223 IPR000425 Major intrinsic protein [Family]
length(20), motif(12:31) 20 IPR000425 Major intrinsic protein [Family]
length(212), motif(16:227) 212 IPR000425 Major intrinsic protein [Family]
length(13), motif(32:44) 13 IPR023274 Aquaporin 1 [Family]
length(25), motif(56:80) 25 IPR000425 Major intrinsic protein [Family]
length(9), motif(74:82) 9 IPR022357 Major intrinsic protein, conserved site [Conserved_site]
length(20), motif(93:112) 20 IPR000425 Major intrinsic protein [Family]
length(12), motif(116:127) 12 IPR023274 Aquaporin 1 [Family]
length(12), motif(130:141) 12 IPR023274 Aquaporin 1 [Family]
length(19), motif(141:159) 19 IPR000425 Major intrinsic protein [Family]
length(23), motif(173:195) 23 IPR000425 Major intrinsic protein [Family]
length(21), motif(210:230) 21 IPR000425 Major intrinsic protein [Family]
length(12), motif(245:256) 12 IPR023274 Aquaporin 1 [Family]
length(9), motif(261:269) 9 IPR023274 Aquaporin 1 [Family]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000039575
H-Inv cluster ID Locus viewHIX0006573
Accession number BC022486.1
CAGE tag ID NA
EST ID NA
Transcript feature  Help NO;  Splicing isoformSplicing isoform
Coding potential  Help Protein coding; 
Definition Aquaporin-1; AQP-1; Aquaporin-CHIP; Urine water channel; Water channel protein for red blood cells and kidney proximal tubule;
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (P29972)  [Identity/coverage = 99.628%/100.0%] to Homo sapiens (Human). protein.
Experimental evidence Protein evidence
PubMed ID 13735241722319200759275074817517253751877175215407521882767799483404038703970917735311034202111719621153245512853948147020391548933419054851ALL
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 NA
HGNC aliases NA
HGNC name NA
DDBJ AQP1
UniProt AQP1
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 HIP000033571
No. of interaction 3
Interaction partner(s) HIP000021992HIP000029071HIP000108759
BIND NA
DIP 134737E; 
MINT MINT-66628;  MINT-67045;  MINT-67673;  MINT-67824;  MINT-68111;  MINT-68336; 
HPRD 02997;  04242;  05221;  07280;  07764;  13941;  16101;  16176; 
IntAct NA
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:358
KEGG GENES KEGG GENES(358)
GeneCard NA *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 transporter activity (GO:0005215); 
Biological process transport (GO:0006810); 
Cellular component membrane (GO:0016020); 

Subcellular localization information  Last modified:27-May-2015
WoLF PSORT plasma membrane; 
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.

Protein structure information (GTOP) GTOP Last modified:27-May-2015
Start End PDB_ID E-value Identity Coverage SCOP_ID
1 247 1j4nA 7e-31 46.6 247/249 f.19.1.1
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 AGhsA200914; 
Affymetrix
GeneChip
HG-Focus 209047_at; 
HG-U133 207542_s_at;  209047_at; 
HG-U133A 207542_s_at;  209047_at; 
HG-U133A_2 207542_s_at;  209047_at; 
HG-U133B NA
HG-U133_Plus_2 207542_s_at;  209047_at; 
HG-U95 36156_at; 
HG-U95A 36156_at; 
HG-U95B NA
HG-U95C NA
HG-U95D NA
HG-U95E NA
HG-U95Av2 NA
HuEx-1_0 2995590;  2995591;  2995593;  2995594;  2995595;  2995596;  2995597;  2995598;  3044413;  3044415; 
HuGeneFL M77829_s_at;  U41518_at; 
Agilent Human 1A Oligo Microarray:PGID215 A_23_P19894;  A_23_P372834; 
Whole Human Genome Oligo Microarray:PGID247 A_23_P19894;  A_23_P372834; 
Related H-InvDB links H-ANGELH-ANGEL DNAProbeLocatorDNAProbeLocator

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
32 .. 32 G/A rs193214487 + 5'UTR
41 .. 41 C/T rs202016178 + 5'UTR
61 .. 61 G/A rs144950903 + CDS Nonsynonymous[Ala2Thr]
145 .. 145 G/A rs147526690 + CDS Nonsynonymous[Gly30Ser]
155 .. 155 T/C rs140172452 + CDS Nonsynonymous[Leu33Pro]
166 .. 166 T/C rs145372510 + CDS Nonsynonymous[Tyr37His]
170 .. 170 C/T rs104894004 + CDS Nonsynonymous[Pro38Leu]
190 .. 190 A/G rs17852043 + CDS Nonsynonymous[Thr45Ala]
191 .. 191 C/T rs28362692 + CDS Nonsynonymous[Thr45Met]
205 .. 205 G/A rs200496523 + CDS Nonsynonymous[Val50Met]
211 .. 211 G/C rs35115273 + CDS Nonsynonymous[Val52Leu]
216 .. 216 G/A rs200596948 + CDS Synonymous[Ser53Ser]
237 .. 237 C/T rs11537656 + CDS Synonymous[Ile60Ile]
242 .. 242 C/T rs199545971 + CDS Nonsynonymous[Thr62Met]
273 .. 273 C/T rs145002350 + CDS Synonymous[Gly72Gly]
274 .. 274 G/A rs140979736 + CDS Nonsynonymous[Ala73Thr]
288 .. 288 G/A rs112240167 + CDS Synonymous[Pro77Pro]
335 .. 335 G/A rs183830991 + CDS Nonsynonymous[Arg93His]
363 .. 363 C/T rs144761239 + CDS Synonymous[Cys102Cys]
376 .. 376 G/A rs35804488 + CDS Nonsynonymous[Val107Ile]
377 .. 377 T/G rs147400857 + CDS Nonsynonymous[Val107Gly]
400 .. 400 A/G rs143467679 + CDS Nonsynonymous[Ile115Val]
454 .. 454 G/A rs11537655 + CDS Nonsynonymous[Val133Met]
462 .. 462 G/A rs117434085 + CDS Synonymous[Ser135Ser]
513 .. 513 C/T rs28362730 + CDS Synonymous[Cys152Cys]
514 .. 514 G/A rs200906195 + CDS Nonsynonymous[Val153Met]
528 .. 528 C/T rs150107539 + CDS Synonymous[Thr157Thr]
538 .. 538 C/T rs201686828 + CDS Nonsynonymous[Arg161Cys]
551 .. 551 G/A rs28362731 + CDS Nonsynonymous[Gly165Asp]
560 .. 560 C/T rs200005344 + CDS Nonsynonymous[Ala168Val]
573 .. 573 C/T rs192670428 + CDS Synonymous[Ile172Ile]
624 .. 624 T/G rs202089489 + CDS Nonsynonymous[Cys189Trp]
639 .. 639 T/A rs143245268 + CDS Synonymous[Ala194Ala]
657 .. 657 G/A rs147503533 + CDS Synonymous[Ala200Ala]
657 .. 657 G/- rs199474670 + CDS
738 .. 738 C/T rs140239885 + CDS Synonymous[Tyr227Tyr]
798 .. 798 C/T rs199860979 + CDS Synonymous[Ser247Ser]
799 .. 799 G/A rs149637560 + CDS Nonsynonymous[Gly248Ser]
804 .. 804 G/C rs201414781 + CDS Nonsynonymous[Gln249His]
815 .. 815 A/G rs144238098 + CDS Nonsynonymous[Tyr253Cys]
891 .. 891 C/T rs200837934 + 3'UTR
912 .. 912 C/T rs140536387 + 3'UTR
919 ^ 920 -/GGGAG rs147211026 + 3'UTR
920 ^ 921 -/GGGAG rs67938970 + 3'UTR
922 ^ 923 -/AGGG rs67184369 + 3'UTR
923 ^ 924 -/AGGGG rs72463314 + 3'UTR
932 ^ 933 -/AGGGG rs28362739 + 3'UTR
1045 .. 1045 T/G rs180936597 + 3'UTR
1140 .. 1140 C/T rs202039962 + 3'UTR
1149 .. 1149 C/T rs78003203 + 3'UTR
1229 .. 1229 G/A rs28362740 + 3'UTR
1268 .. 1268 C/T rs28362741 + 3'UTR
1302 .. 1302 C/T rs113192043 + 3'UTR
1379 .. 1379 G/C/T rs28362742 + 3'UTR
1388 ^ 1389 -/C rs72393384 + 3'UTR
1392 .. 1392 T/C rs11537660 - 3'UTR
1445 .. 1445 G/C rs1049305 + 3'UTR
1512 .. 1512 A/G rs11537659 - 3'UTR
1566 .. 1566 G/A rs142345160 + 3'UTR
1714 .. 1714 C/A rs189828375 + 3'UTR
1757 .. 1757 T/A rs146357004 + 3'UTR
1768 .. 1768 C/T rs11537661 - 3'UTR
1928 .. 1928 A/G rs17159719 + 3'UTR
1996 .. 1996 C/T rs112314218 + 3'UTR
2201 .. 2201 A/C rs28362743 + 3'UTR
2355 .. 2355 G/T rs138231568 + 3'UTR
2506 .. 2506 T/C rs13600 + 3'UTR
2529 .. 2529 G/A rs117653819 + 3'UTR
2597 .. 2597 G/A rs1049348 + 3'UTR
2644 .. 2644 C/T rs1049352 + 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
Type Start End Strand
MamTip2 1160 1265 +
MIR3 1386 1494 +
MamRTE1 1920 1968 +
MIRc 2410 2451 -
MIR3 2424 2452 -
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene Repeat mask viewerRepeat Mask Viewer