H-InvDB x AHG DB
Transcript view
H-InvDB_9.0 released on May 27, 2015.
Search by for Advanced Search
Home Quick guide Navi BLAST Site map Download Contact us Help
H-Invitational ID: HIT000044443 Accession number: AK124570 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Similar to Rhomboid-related protein 3.
 
 

Transcript original information
Accession number AK124570.1
CAGE tag ID NA
EST ID NA
Clone Number BRACE3008384
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ; Antibody: searching human antibodies at "BIO-kaimono.com" Antibody (RHBDL3) ; Catalog: searching experimental product catalogs at "BIO-kaimono.com" Catalog (RHBDL3);
Sequence data provider Project:FLJ; Provider:FLJ/HRI; 
Annotation project H-Invitational FLcDNA
Length of cDNA 4470[bp] (No. of exon:7)[A:909 T:1085 G:1285 C:1191]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type cerebellum
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 HIX0202503
Genomic location  G-integra Help Chromosome 17
Location 17q11.2
Position 30594823- 30651675
Strand +
Possible duplicated location(s) NA
Gene structure 7 exon(s)
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:162494
KEGG GENES KEGG GENES(162494)
GeneCard GeneCardRHBDL3*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 HIP000100829
Predicted CDS 123..1043;  306[aa];  Orientation:+3; 
Codon Adaptation Index (CAI). 0.808

Motif information
ORF

length(306),orf(123:1043)
MSNKRSNSFRQAILQGNRRLSSKALLEEKGLSLSQRLIRHVAYETLPREI
DRKWYYDSYTCCPPPWFMITVTLLEVAFFLYNGVSLGQFVLQVTHPRYLK
NSLVYHPQLRAQVWRYLTYIFMHAGIEHLGLNVVLQLLVGVPLEMVHGAT
RIGLVYVAGVVAGSLAVSVADMTAPVVGSSGGVYALVSAHLANIVMNWSG
MKCQFKLLRMAVALICMSMEFGRAVWLRFHPSAYPPCPHPSFVAHLGGVA
VGITLGVVVLRNYEQRLQDQSLWWIFVAMYTVFVLFAVFWNIFAYTLLDL
KLPPPP*
a.a.
length
InterPro Name
length(306), motif(1:306) 306 IPR002610 Peptidase S54, rhomboid [Family]
length(198), motif(64:261) 198 IPR022764 Peptidase S54, rhomboid domain [Domain]
length(154), motif(109:262) 154 IPR022764 Peptidase S54, rhomboid domain [Domain]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000044443
H-Inv cluster ID Locus viewHIX0202503
Accession number AK124570.1
CAGE tag ID NA
EST ID NA
Transcript feature  Help NO;  Splicing isoformSplicing isoform
Coding potential  Help Protein coding; 
Definition Similar to Rhomboid-related protein 3.
Similarity category  Help Category: Similar to known protein(Category II).
Similar to known protein (NP_612201)  [Identity/coverage = 100.0%/75.74%] 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 RHBDL3
HGNC aliases "rhomboid, veinlet-like 4 (Drosophila)"
HGNC name rhomboid, veinlet-like 3 (Drosophila)
DDBJ NA
UniProt NA
EC number EC 3.4.21.105rhomboid protease; 
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 HIP000100829
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:162494
KEGG GENES KEGG GENES(162494)
GeneCard GeneCardRHBDL3*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. 
FR ID FR053758
Accession
Description
Location
PMID

Gene ontology information
Molecular function serine-type endopeptidase activity (GO:0004252); 
Biological process proteolysis (GO:0006508); 
Cellular component integral to membrane (GO:0016021); 

Subcellular localization information  Last modified:27-May-2015
WoLF PSORT plasma membrane;  endoplasmic;  golgi apparatus;  mitochondria; 
Target P mitochondria
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
103 161 2ic8A1 4e-04 15.3 59/100 f.51.1.1
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 NA
Affymetrix
GeneChip
HG-Focus NA
HG-U133 230755_at; 
HG-U133A NA
HG-U133A_2 NA
HG-U133B 230755_at; 
HG-U133_Plus_2 1553268_at;  230755_at; 
HG-U95 NA
HG-U95A NA
HG-U95B NA
HG-U95C NA
HG-U95D NA
HG-U95E NA
HG-U95Av2 NA
HuEx-1_0 3717616;  3717618;  3717619;  3717620;  3717621;  3717625;  3717627;  3717628;  3752610; 
HuGeneFL NA
Agilent Human 1A Oligo Microarray:PGID215 A_23_P308731; 
Whole Human Genome Oligo Microarray:PGID247 A_23_P308731; 
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
55 ^ 56 -/G rs34713884 + 5'UTR
105 .. 105 A/C rs200493941 + 5'UTR
136 .. 136 G/A rs140645420 + CDS Nonsynonymous[Arg5His]
195 .. 195 C/T rs150485822 + CDS Synonymous[Leu25Leu]
196 .. 196 T/C rs145382463 + CDS Nonsynonymous[Leu25Pro]
223 .. 223 C/T rs200982433 + CDS Nonsynonymous[Ser34Leu]
224 .. 224 G/A rs141361601 + CDS Synonymous[Ser34Ser]
225 .. 225 C/T rs200024285 + CDS AA-STOP[Gln35*]
277 .. 277 G/A rs145090577 + CDS Nonsynonymous[Arg52His]
282 .. 282 T/C rs143318396 + CDS Nonsynonymous[Trp54Arg]
367 .. 367 A/G rs78134126 + CDS Nonsynonymous[Asn82Ser]
381 .. 381 G/T rs138890553 + CDS Nonsynonymous[Gly87Cys]
412 .. 412 G/A rs149143651 + CDS Nonsynonymous[Arg97His]
451 .. 451 G/A rs142037145 + CDS Nonsynonymous[Arg110Gln]
491 .. 491 T/C rs201576733 + CDS Synonymous[His123His]
509 .. 509 G/A rs200550351 + CDS Synonymous[Leu129Leu]
525 .. 525 C/T rs201897643 + CDS Synonymous[Leu135Leu]
560 .. 560 G/T rs145659720 + CDS Synonymous[Val146Val]
573 .. 573 C/A rs148089007 + CDS Synonymous[Arg151Arg]
591 .. 591 G/A rs4795690 + CDS Nonsynonymous[Val157Met]
596 .. 596 C/T rs201038477 + CDS Synonymous[Ala158Ala]
669 .. 669 G/A rs181963320 + CDS Nonsynonymous[Val183Met]
680 .. 680 C/T rs202194628 + CDS Synonymous[Leu186Leu]
690 .. 690 C/G rs62064223 + CDS Nonsynonymous[His190Asp]
700 .. 700 A/G rs201455379 + CDS Nonsynonymous[Asn193Ser]
714 .. 714 T/C rs201849916 + CDS Nonsynonymous[Trp198Arg]
794 .. 794 C/T rs141245978 + CDS Synonymous[Ala224Ala]
847 .. 847 T/C rs138067344 + CDS Nonsynonymous[Phe242Ser]
912 .. 912 G/A rs199506478 + CDS Nonsynonymous[Glu264Lys]
926 .. 926 G/T rs143661975 + CDS Nonsynonymous[Gln268His]
929 .. 929 C/A rs201166032 + CDS Nonsynonymous[Asp269Glu]
1039 .. 1039 C/G rs147187789 + CDS Nonsynonymous[Pro306Arg]
1040 .. 1040 C/G rs192685079 + CDS Synonymous[Pro306Pro]
1062 .. 1062 C/T rs200744203 + 3'UTR
1279 .. 1279 C/T rs112764110 + 3'UTR
1541 .. 1541 A/G rs145046391 + 3'UTR
1662 .. 1662 G/A rs72811097 + 3'UTR
1719 .. 1719 G/A rs116442446 + 3'UTR
1736 .. 1736 C/T rs182856686 + 3'UTR
1819 .. 1819 G/A rs138905555 + 3'UTR
1954 .. 1954 C/T rs112615770 + 3'UTR
1995 .. 1995 A/T rs115369659 + 3'UTR
2046 .. 2046 C/T rs187487001 + 3'UTR
2110 .. 2110 C/G rs60788861 + 3'UTR
2237 .. 2237 T/C rs141988744 + 3'UTR
2276 .. 2276 A/G rs192864781 + 3'UTR
2331 .. 2331 G/A rs114302680 + 3'UTR
2355 .. 2355 A/- rs34953633 + 3'UTR
2405 .. 2405 A/G rs184852841 + 3'UTR
2461 .. 2461 G/T rs75618522 + 3'UTR
2498 .. 2498 G/A rs150700686 + 3'UTR
2812 .. 2812 C/T rs189311818 + 3'UTR
2825 .. 2825 G/T rs34202966 + 3'UTR
2834 .. 2834 T/A rs192350706 + 3'UTR
2922 .. 2922 C/T rs147377082 + 3'UTR
3014 .. 3014 A/T rs183968106 + 3'UTR
3019 .. 3019 C/T rs113895915 + 3'UTR
3023 .. 3023 G/T rs113245652 + 3'UTR
3054 .. 3054 G/A rs115085524 + 3'UTR
3067 .. 3067 C/G rs182041246 + 3'UTR
3155 .. 3155 G/A rs186018916 + 3'UTR
3172 .. 3172 C/G rs111866425 + 3'UTR
3298 .. 3298 A/G rs117942720 + 3'UTR
3389 .. 3389 C/T rs79973228 + 3'UTR
3478 .. 3478 G/A rs190078118 + 3'UTR
3508 .. 3508 G/A rs181149176 + 3'UTR
3575 .. 3575 C/T rs186387762 + 3'UTR
3601 ^ 3602 -/A rs71362828 + 3'UTR
3697 .. 3697 G/A rs190852776 + 3'UTR
3780 ^ 3781 -/C rs34451542 + 3'UTR
3833 .. 3833 G/A rs180823795 + 3'UTR
3968 .. 3968 G/A rs144981304 + 3'UTR
4005 .. 4005 A/C rs116663412 + 3'UTR
4009 .. 4009 T/G rs148669858 + 3'UTR
4025 .. 4025 G/C rs142208213 + 3'UTR
4161 .. 4161 A/T rs3744612 - 3'UTR
4203 .. 4203 C/T rs146766288 + 3'UTR
4204 .. 4204 G/A rs185225092 + 3'UTR
4226 .. 4226 C/T rs190829777 + 3'UTR
4252 .. 4252 A/G rs114438530 + 3'UTR
4347 .. 4347 G/A rs11548608 - 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
MIR3 2498 2554 -
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene;  Repeat mask viewerRepeat Mask Viewer