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H-InvDB_9.0 released on May 27, 2015.
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H-Invitational ID: HIT000249675 Accession number: AK131387 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Flap endonuclease GEN homolog 1; EC=3.1.-.-;
 
 

Transcript original information
Accession number AK131387.1
CAGE tag ID NA
EST ID NA
Clone Number BRHIP2012360
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ; Antibody: searching human antibodies at "BIO-kaimono.com" Antibody (GEN1) ; Catalog: searching experimental product catalogs at "BIO-kaimono.com" Catalog (GEN1);
Sequence data provider NA
Annotation project NA
Length of cDNA 3024[bp] (No. of exon:14)[A:998 T:862 G:611 C:553]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type hippocampus
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) CAGCAG; 
Transcript quality feature NA
Notes NA

Gene structure information  G-integra H-DBAS cDNA-genome alignment
H-Inv cluster ID HIX0001847
Genomic location  G-integra Help Chromosome 2
Location 2p24.2
Position 17935177- 17963430
Strand +
Possible duplicated location(s) NA
Gene structure 14 exon(s)
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:348654
KEGG GENES KEGG GENES(348654)
GeneCard GeneCardGEN1*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 HIP000061717
Predicted CDS 74..2800;  908[aa];  Orientation:+2; 
Codon Adaptation Index (CAI). 0.683

Motif information
ORF

length(908),orf(74:2800)
MGVNDLWQILEPVKQHIPLRNLGGKTIAVDLSLWVCEAQTVKKMMGSVMK
PHLRNLFFRISYLTQMDVKLVFVMEGEPPKLKADVISKRNQTRYGSSGKS
WSQKTGRSHFKSVLRECLHMLECLGIPWVQAAGEAEAMCAYLNAGGHVDG
CLTNDGDTFLYGAQTVYRNFTMNTKDPHVDCYTMSSIKSKLGLDRDALVG
LAILLGCDYLPKGVPGVGKEQALKLIQILKGQSLLQRFNRWNETSCNSSP
QLLVTKKLAHCSVCSHPGSPKDHERNGCRLCKSDKYCEPHDYEYCCPCEW
HRTEHDRQLNEVENNIKKKACCCEGFPFHEVIQEFLLNKDKLVKVIRYQR
PDLLLFQRFTLEKMEWPNHYACEKLLVLLTHYDMIERKLGSRNSNQLQPI
RIVKTRIRNGVHCFEIEWEKPEHYAMEDKQHGEFALLTIEEESLFEAAYP
EIVAVYQKQKLEIKGKKQKRIKPKENNLPEPDEVMSFQSHMTLKPTCEIF
HKQNSKLNSGISPDPTLPQESISASLNSLLLPKNTPCLNAQEQFMSSLRP
LAIQQIKAVSKSLISESSQPNTSSHNISVIADLHLSTIDWEGTSFSNSPA
IQRNTFSHDLKSEVESELSAIPDGFENIPEQLSCESERYTANIKKVLDED
SDGISPEEHLLSGITDLCLQDLPLKERIFIKLSYPQDNLQPDVNLKTLSI
LSVKESCIANSGSDCTSHLSKDLPGIPLQNESRDSKILKGDQLLQEDYKV
NTSVPYSVSNTVVKTCNVRPPNTALDHSRKVDMQTTRKILMKKSVCLDRH
SSDEQSAPVFGKAKYTTQRMKHSSQKHNSSHFKESGHNKLSSPKIHIKET
EQCVRSYETAENEESCFPDSTKSSLSSLQCHKKENNSGTCLDSPLPLCQR
LKLRFQST*
a.a.
length
InterPro Name
length(192), motif(1:192) 192 IPR029060 PIN domain-like [Domain]
length(93), motif(1:93) 93 IPR006085 XPG N-terminal [Domain]
length(96), motif(1:96) 96 IPR006085 XPG N-terminal [Domain]
length(207), motif(2:208) 207 IPR029060 PIN domain-like [Domain]
length(72), motif(122:193) 72 IPR006086 XPG-I domain [Domain]
length(86), motif(123:208) 86 IPR006086 XPG-I domain [Domain]
length(45), motif(193:237) 45 IPR020045 5'-3' exonuclease, C-terminal domain [Domain]
length(35), motif(195:229) 35 IPR008918 Helix-hairpin-helix motif, class 2 [Conserved_site]
length(63), motif(322:384) 63 IPR020045 5'-3' exonuclease, C-terminal domain [Domain]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000249675
H-Inv cluster ID Locus viewHIX0001847
Accession number AK131387.1
CAGE tag ID NA
EST ID NA
Transcript feature  Help NO; 
Coding potential  Help Protein coding; 
Definition Flap endonuclease GEN homolog 1; EC=3.1.-.-;
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (Q17RS7)  [Identity/coverage = 99.559%/100.0%] to Homo sapiens (Human). protein.
Experimental evidence Protein evidence
PubMed ID 147020391548933415815621169599741902061421248752ALL
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 GEN1
HGNC aliases "Gen endonuclease homolog 1 (Drosophila)"
HGNC name GEN1 Holliday junction 5' flap endonuclease
DDBJ NA
UniProt GEN1
EC number EC 3.1.-.-Acting on Ester Bonds; 
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 HIP000061717
No. of interaction 2
Interaction partner(s) HIP000025861HIP000070521
BIND NA
DIP NA
MINT NA
HPRD NA
IntAct NA
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:348654
KEGG GENES KEGG GENES(348654)
GeneCard GeneCardGEN1*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 catalytic activity (GO:0003824);  DNA binding (GO:0003677);  nuclease activity (GO:0004518); 
Biological process DNA repair (GO:0006281); 

Subcellular localization information  Last modified:27-May-2015
WoLF PSORT cytosol;  nuclear; 
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
2 191 1a76A2 4e-35 24.3 185/207 c.120.1.2
193 241 1a76A1 6e-13 30.6 49/108 a.60.7.1
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 AGhsC060803; 
Affymetrix
GeneChip
HG-Focus NA
HG-U133 NA
HG-U133A NA
HG-U133A_2 NA
HG-U133B NA
HG-U133_Plus_2 NA
HG-U95 85688_at; 
HG-U95A NA
HG-U95B NA
HG-U95C NA
HG-U95D 85688_at; 
HG-U95E NA
HG-U95Av2 NA
HuEx-1_0 2471321;  2471322;  2471323;  2471325;  2471327;  2471329;  2471331;  2471332;  2471333;  2471334;  2471335;  2471336;  2471338;  2471341;  2471343;  2471344;  2471345;  2471346;  2542015;  2542017; 
HuGeneFL NA
Agilent Human 1A Oligo Microarray:PGID215 NA
Whole Human Genome Oligo Microarray:PGID247 A_24_P177585;  A_24_P920968; 
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
12 .. 12 G/A rs183763115 + 5'UTR
62 .. 62 A/G rs200070178 + 5'UTR
118 .. 118 A/T rs139372712 + CDS Nonsynonymous[Gln15His]
157 .. 157 A/T rs147110059 + CDS Synonymous[Ala28Ala]
158 .. 158 G/A rs181124955 + CDS Nonsynonymous[Val29Ile]
215 .. 215 G/A rs202068919 + CDS Nonsynonymous[Val48Ile]
269 .. 269 A/G rs141837989 + CDS Nonsynonymous[Met66Val]
330 .. 330 T/A rs148443734 + CDS Nonsynonymous[Ile86Lys]
347 .. 347 A/T rs1812152 + CDS Nonsynonymous[Thr92Ser]
350 .. 350 C/T rs201492858 + CDS Nonsynonymous[Arg93Trp]
376 .. 376 G/T rs144005627 + CDS Nonsynonymous[Trp101Cys]
437 .. 437 G/A rs201084834 + CDS Nonsynonymous[Glu122Lys]
463 .. 463 G/C rs200681783 + CDS Nonsynonymous[Gln130His]
476 .. 476 G/T rs199545866 + CDS Nonsynonymous[Ala135Ser]
481 .. 481 A/G rs111388449 + CDS Synonymous[Glu136Glu]
501 .. 501 A/G rs16981869 + CDS Nonsynonymous[Asn143Ser]
542 .. 542 G/T rs139099020 + CDS Nonsynonymous[Asp157Tyr]
562 .. 562 C/T rs143444612 + CDS Synonymous[Ala163Ala]
567 .. 567 C/A rs150961964 + CDS Nonsynonymous[Thr165Asn]
568 .. 568 T/C rs201825923 + CDS Synonymous[Thr165Thr]
623 .. 623 A/T rs140068646 + CDS Nonsynonymous[Met184Leu]
639 .. 639 G/A rs116772931 + CDS Nonsynonymous[Ser189Asn]
657 ^ 658 -/G rs34478641 + CDS
680 .. 680 A/G rs10177628 + CDS Nonsynonymous[Ile203Val]
693 .. 693 G/C rs138511510 + CDS Nonsynonymous[Cys207Ser]
750 .. 750 T/C rs143219130 + CDS Nonsynonymous[Ile226Thr]
792 .. 792 G/A rs189766183 + CDS Nonsynonymous[Arg240Gln]
822 .. 822 C/T rs141482726 + CDS Nonsynonymous[Pro250Leu]
860 .. 860 G/A rs199991451 + CDS Nonsynonymous[Val263Ile]
876 .. 876 G/T rs139945353 + CDS Nonsynonymous[Gly268Val]
896 .. 896 C/T rs146276503 + CDS Nonsynonymous[Arg275Cys]
897 .. 897 G/A rs202239270 + CDS Nonsynonymous[Arg275His]
931 .. 931 T/C rs201202527 + CDS Synonymous[Tyr286Tyr]
948 .. 948 A/G rs149884551 + CDS Nonsynonymous[Tyr292Cys]
977 .. 977 C/T rs202192107 + CDS Nonsynonymous[Arg302Cys]
978 .. 978 G/A rs148607792 + CDS Nonsynonymous[Arg302His]
1002 .. 1002 A/G rs300175 + CDS Nonsynonymous[Asn310Ser]
1061 .. 1061 G/A rs115591812 + CDS Nonsynonymous[Glu330Lys]
1087 .. 1087 C/T rs150264679 + CDS Synonymous[Asn338Asn]
1136 .. 1136 T/C rs148928887 + CDS Synonymous[Leu355Leu]
1143 .. 1143 A/G rs201049373 + CDS Nonsynonymous[Gln357Arg]
1154 .. 1154 C/T rs200275164 + CDS Nonsynonymous[Leu361Phe]
1181 .. 1181 T/G rs201488023 + CDS Nonsynonymous[Tyr370Asp]
1205 .. 1205 C/T rs141832116 + CDS Nonsynonymous[Leu378Phe]
1310 .. 1310 T/C rs199769297 + CDS Nonsynonymous[Cys413Arg]
1414 .. 1414 A/G rs16983864 + CDS Synonymous[Ala447Ala]
1462 .. 1462 T/G rs201334007 + CDS Nonsynonymous[Ile463Met]
1503 .. 1503 A/G rs148028719 + CDS Nonsynonymous[Asn477Ser]
1599 .. 1599 C/G rs150586336 + CDS Nonsynonymous[Ser509Trp]
1603 .. 1603 G/T rs144151088 + CDS Synonymous[Gly510Gly]
1608 .. 1608 C/T rs192489738 + CDS Nonsynonymous[Ser512Phe]
1711 .. 1711 T/A rs61762986 + CDS Synonymous[Ser546Ser]
1747 .. 1747 T/A rs138268141 + CDS Synonymous[Ala558Ala]
1789 .. 1789 C/T rs151314688 + CDS Synonymous[Thr572Thr]
1833 .. 1833 C/T rs112224689 + CDS Nonsynonymous[Thr587Ile]
1871 .. 1871 G/C rs200602120 + CDS Nonsynonymous[Ala600Pro]
1918 .. 1918 A/G rs202033525 + CDS Synonymous[Glu615Glu]
1970 .. 1970 T/G rs145621452 + CDS Nonsynonymous[Ser633Ala]
1995 .. 1995 C/G rs201918587 + CDS Nonsynonymous[Ala641Gly]
2028 .. 2028 A/C rs141313079 + CDS Nonsynonymous[Asp652Ala]
2044 .. 2044 G/A rs300168 - CDS Synonymous[Glu657Glu]
2103 .. 2103 G/A rs200843544 + CDS Nonsynonymous[Arg677Gln]
2112 .. 2112 T/C rs300169 + CDS Nonsynonymous[Ile680Thr]
2128 .. 2128 T/C rs144098391 + CDS Synonymous[Pro685Pro]
2137 .. 2137 T/C rs139429589 + CDS Synonymous[Asn688Asn]
2150 .. 2150 G/A rs150533023 + CDS Nonsynonymous[Val693Ile]
2171 .. 2171 A/G rs149815077 + CDS Nonsynonymous[Ile700Val]
2184 .. 2184 A/C rs200000475 + CDS Nonsynonymous[Lys704Thr]
2199 .. 2199 C/G rs201307842 + CDS Nonsynonymous[Ala709Gly]
2335 .. 2335 C/T rs111823913 + CDS Synonymous[Val754Val]
2356 .. 2356 A/G rs113795529 + CDS Synonymous[Thr761Thr]
2425 .. 2425 A/G rs139744901 + CDS Synonymous[Gln784Gln]
2454 .. 2454 G/C rs201939375 + CDS Nonsynonymous[Ser794Thr]
2508 .. 2508 A/G rs144368291 + CDS Nonsynonymous[Lys812Arg]
2518 .. 2518 C/T rs148781334 + CDS Synonymous[Tyr815Tyr]
2522 .. 2522 A/G rs77374434 + CDS Nonsynonymous[Thr817Ala]
2588 .. 2588 A/G rs113873109 + CDS Nonsynonymous[Lys839Glu]
2600 .. 2600 C/T rs183886409 + CDS Nonsynonymous[Pro843Ser]
2692 .. 2692 T/G rs57936182 + CDS Nonsynonymous[Ser873Arg]
2703 .. 2703 C/A rs143372639 + CDS Nonsynonymous[Ser877Tyr]
2715 .. 2715 A/C rs201891945 + CDS Nonsynonymous[His881Pro]
2717 .. 2717 A/G rs77424145 + CDS Nonsynonymous[Lys882Glu]
2725 .. 2725 A/C rs141534568 + CDS Nonsynonymous[Glu884Asp]
2728 .. 2728 C/A rs190550780 + CDS Nonsynonymous[Asn885Lys]
2759 .. 2759 C/A rs182439530 + CDS Nonsynonymous[Pro896Thr]
2765 .. 2765 T/C rs17315702 + CDS Nonsynonymous[Cys898Arg]
2766 .. 2766 G/A rs141519917 + CDS Nonsynonymous[Cys898Tyr]
2816 .. 2816 G/T rs187137726 + 3'UTR
2839 .. 2839 C/T rs192261917 + 3'UTR
2905 .. 2905 C/G rs78136924 + 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
OldhAT1 1494 1536 +
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene Repeat mask viewerRepeat Mask Viewer