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H-Invitational ID: HIT000307056 Accession number: CR936783 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Flap endonuclease GEN homolog 1; EC=3.1.-.-;
 
 

Transcript original information
Accession number CR936783.1
CAGE tag ID NA
EST ID NA
Clone Number DKFZp781F0986
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 5731[bp] (No. of exon:14)[A:1902 T:1693 G:1099 C:1037]
Devision HTC
Molecular type mRNA
Library origin Cell type NA
Tissue type seminom
Develpmental stage adult
Mini-G
Sequence quality information
CDS feature Complete CDS
Kozak sequence NA
PolyA Site: 5717(+)
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 17935414- 17965985
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 HIP000061718
Predicted CDS 212..2938;  908[aa];  Orientation:+2; 
Codon Adaptation Index (CAI). 0.683

Motif information
ORF

length(908),orf(212:2938)
MGVNDLWQILEPVKQHIPLRNLGGKTIAVDLSLWVCEAQTVKKMMGSVMK
PHLRNLFFRISYLTQMDVKLVFVMEGEPPKLKADVISKRNQTRYGSSGKS
WSQKTGRSHFKSVLRECLHMLECLGIPWVQAAGEAEAMCAYLSAGGHVDG
CLTNDGDTFLYGAQTVYRNFTMNTKDPHVDCYTMSSIKSKLGLDRDALVG
LAILLGCDYLPKGVPGVGKEQALKLIQILKGQSLLQRFNRWNETSCNSSP
QLLVTKKLAHCSVCSHPGSPKDHERNGCRLCKSDKYCEPHDYEYCCPCEW
HRTEHDRQLNEVENNIKKKACCCEGFPFHEVIQEFLLNKDKLVKVIRYQR
PDLLLFQRFTLEKMEWPNHYACEKLLVLLTHYDMIERKLGSRNSNQLQPI
RIVKTRIRNGVHCFEIEWEKPEHYAMEDKQHGEFALLTIEEESLFEAAYP
EIVAVYQKQKLEIKGKKQKRIKPKENNLPEPDEVMSFQSHMTLKPTCEIF
HKQNSKLNSGISPDPTLPQESISASLNSLLLPKNTPCLNAQEQFMSSLRP
LAIQQIKAVSKSLISESSQPNTSSHNISVIADLHLSTIDWEGTSFSNSPA
IQRNTFSHDLKSEVESELSAIPDGFENIPEQLSCESERYTANIKKVLDED
SDGISPEEHLLSGITDLCLQDLPLKERIFIKLSYPQDNLQPDVNLKTLSI
LSVKESCIANSGSDCTSHLSKDLPGIPLQNESRDSKILKGDQLLQEDYKV
NTSVPYSVSNTVVKTCNVRPPNTALDHSRKVDMQTTRKILMKKSVCLDRH
SSDEQSAPVFGKAKYTTQRMKHSSQKHNSSHFKESGHNKLSSPKIHIKET
EQCVRSYETAENEESCFPDSTKSSLSSLQCHKKENNSGTCLDSPLPLRQR
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 HIT000307056
H-Inv cluster ID Locus viewHIX0001847
Accession number CR936783.1
CAGE tag ID NA
EST ID NA
Transcript feature  Help Representative H-Inv IDRepresentative transcript;  Splicing isoformSplicing isoform
Coding potential  Help Protein coding; 
Definition 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 HIP000061718
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 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 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 228286_at; 
HG-U133A NA
HG-U133A_2 NA
HG-U133B 228286_at; 
HG-U133_Plus_2 228286_at; 
HG-U95 55910_at;  85688_at; 
HG-U95A NA
HG-U95B NA
HG-U95C 55910_at; 
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;  2471347;  2542015;  2542017;  2542019;  2542020; 
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

Evolutionary information  Evola Help Last modified:27-May-2015
Relationship Species Accession number MGI Links
Orthology Mus sp. (Mouse) AK031077 MGI:2394251 G-integraG-integra
Orthology Pongo sp. (Orangutan) ENSPPYT00000014671 G-integraG-integra
Orthology Rattus sp. (Rat) XM_001072749 G-integraG-integra
Orthology Macaca sp. (Macaque) XM_001092651 G-integraG-integra
Orthology Pan sp. (Chimpanzee) XM_001136714 G-integraG-integra
Orthology Bos sp. (Cow) XM_001253169 G-integraG-integra
Orthology Equus sp. (Horse) XM_001503416 G-integraG-integra
Orthology Canis sp. (Dog) XM_540093 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
16 .. 16 G/A rs112126827 + 5'UTR
37 .. 37 G/T rs114907442 + 5'UTR
39 .. 39 C/T rs3810832 + 5'UTR
82 .. 82 C/T rs188167182 + 5'UTR
92 .. 92 T/C rs79265807 + 5'UTR
163 .. 163 G/A rs182224836 + 5'UTR
200 .. 200 A/G rs200070178 + 5'UTR
256 .. 256 A/T rs139372712 + CDS Nonsynonymous[Gln15His]
295 .. 295 A/T rs147110059 + CDS Synonymous[Ala28Ala]
296 .. 296 G/A rs181124955 + CDS Nonsynonymous[Val29Ile]
353 .. 353 G/A rs202068919 + CDS Nonsynonymous[Val48Ile]
407 .. 407 A/G rs141837989 + CDS Nonsynonymous[Met66Val]
468 .. 468 T/A rs148443734 + CDS Nonsynonymous[Ile86Lys]
485 .. 485 A/T rs1812152 + CDS Nonsynonymous[Thr92Ser]
488 .. 488 C/T rs201492858 + CDS Nonsynonymous[Arg93Trp]
514 .. 514 G/T rs144005627 + CDS Nonsynonymous[Trp101Cys]
575 .. 575 G/A rs201084834 + CDS Nonsynonymous[Glu122Lys]
601 .. 601 G/C rs200681783 + CDS Nonsynonymous[Gln130His]
614 .. 614 G/T rs199545866 + CDS Nonsynonymous[Ala135Ser]
619 .. 619 A/G rs111388449 + CDS Synonymous[Glu136Glu]
639 .. 639 G/A rs16981869 + CDS Nonsynonymous[Ser143Asn]
680 .. 680 G/T rs139099020 + CDS Nonsynonymous[Asp157Tyr]
700 .. 700 C/T rs143444612 + CDS Synonymous[Ala163Ala]
705 .. 705 C/A rs150961964 + CDS Nonsynonymous[Thr165Asn]
706 .. 706 T/C rs201825923 + CDS Synonymous[Thr165Thr]
761 .. 761 A/T rs140068646 + CDS Nonsynonymous[Met184Leu]
777 .. 777 G/A rs116772931 + CDS Nonsynonymous[Ser189Asn]
795 ^ 796 -/G rs34478641 + CDS
818 .. 818 A/G rs10177628 + CDS Nonsynonymous[Ile203Val]
831 .. 831 G/C rs138511510 + CDS Nonsynonymous[Cys207Ser]
888 .. 888 T/C rs143219130 + CDS Nonsynonymous[Ile226Thr]
930 .. 930 G/A rs189766183 + CDS Nonsynonymous[Arg240Gln]
960 .. 960 C/T rs141482726 + CDS Nonsynonymous[Pro250Leu]
998 .. 998 G/A rs199991451 + CDS Nonsynonymous[Val263Ile]
1014 .. 1014 G/T rs139945353 + CDS Nonsynonymous[Gly268Val]
1034 .. 1034 C/T rs146276503 + CDS Nonsynonymous[Arg275Cys]
1035 .. 1035 G/A rs202239270 + CDS Nonsynonymous[Arg275His]
1069 .. 1069 T/C rs201202527 + CDS Synonymous[Tyr286Tyr]
1086 .. 1086 A/G rs149884551 + CDS Nonsynonymous[Tyr292Cys]
1115 .. 1115 C/T rs202192107 + CDS Nonsynonymous[Arg302Cys]
1116 .. 1116 G/A rs148607792 + CDS Nonsynonymous[Arg302His]
1140 .. 1140 A/G rs300175 + CDS Nonsynonymous[Asn310Ser]
1199 .. 1199 G/A rs115591812 + CDS Nonsynonymous[Glu330Lys]
1225 .. 1225 C/T rs150264679 + CDS Synonymous[Asn338Asn]
1274 .. 1274 T/C rs148928887 + CDS Synonymous[Leu355Leu]
1281 .. 1281 A/G rs201049373 + CDS Nonsynonymous[Gln357Arg]
1292 .. 1292 C/T rs200275164 + CDS Nonsynonymous[Leu361Phe]
1319 .. 1319 T/G rs201488023 + CDS Nonsynonymous[Tyr370Asp]
1343 .. 1343 C/T rs141832116 + CDS Nonsynonymous[Leu378Phe]
1448 .. 1448 T/C rs199769297 + CDS Nonsynonymous[Cys413Arg]
1552 .. 1552 A/G rs16983864 + CDS Synonymous[Ala447Ala]
1600 .. 1600 T/G rs201334007 + CDS Nonsynonymous[Ile463Met]
1641 .. 1641 A/G rs148028719 + CDS Nonsynonymous[Asn477Ser]
1737 .. 1737 C/G rs150586336 + CDS Nonsynonymous[Ser509Trp]
1741 .. 1741 G/T rs144151088 + CDS Synonymous[Gly510Gly]
1746 .. 1746 C/T rs192489738 + CDS Nonsynonymous[Ser512Phe]
1849 .. 1849 T/A rs61762986 + CDS Synonymous[Ser546Ser]
1885 .. 1885 T/A rs138268141 + CDS Synonymous[Ala558Ala]
1927 .. 1927 C/T rs151314688 + CDS Synonymous[Thr572Thr]
1971 .. 1971 C/T rs112224689 + CDS Nonsynonymous[Thr587Ile]
2009 .. 2009 G/C rs200602120 + CDS Nonsynonymous[Ala600Pro]
2056 .. 2056 A/G rs202033525 + CDS Synonymous[Glu615Glu]
2108 .. 2108 T/G rs145621452 + CDS Nonsynonymous[Ser633Ala]
2133 .. 2133 C/G rs201918587 + CDS Nonsynonymous[Ala641Gly]
2166 .. 2166 A/C rs141313079 + CDS Nonsynonymous[Asp652Ala]
2182 .. 2182 A/G rs300168 - CDS Synonymous[Glu657Glu]
2241 .. 2241 G/A rs200843544 + CDS Nonsynonymous[Arg677Gln]
2250 .. 2250 T/C rs300169 + CDS Nonsynonymous[Ile680Thr]
2266 .. 2266 T/C rs144098391 + CDS Synonymous[Pro685Pro]
2275 .. 2275 T/C rs139429589 + CDS Synonymous[Asn688Asn]
2288 .. 2288 G/A rs150533023 + CDS Nonsynonymous[Val693Ile]
2309 .. 2309 A/G rs149815077 + CDS Nonsynonymous[Ile700Val]
2322 .. 2322 A/C rs200000475 + CDS Nonsynonymous[Lys704Thr]
2337 .. 2337 C/G rs201307842 + CDS Nonsynonymous[Ala709Gly]
2473 .. 2473 C/T rs111823913 + CDS Synonymous[Val754Val]
2494 .. 2494 A/G rs113795529 + CDS Synonymous[Thr761Thr]
2563 .. 2563 A/G rs139744901 + CDS Synonymous[Gln784Gln]
2592 .. 2592 G/C rs201939375 + CDS Nonsynonymous[Ser794Thr]
2646 .. 2646 A/G rs144368291 + CDS Nonsynonymous[Lys812Arg]
2656 .. 2656 C/T rs148781334 + CDS Synonymous[Tyr815Tyr]
2660 .. 2660 A/G rs77374434 + CDS Nonsynonymous[Thr817Ala]
2726 .. 2726 A/G rs113873109 + CDS Nonsynonymous[Lys839Glu]
2738 .. 2738 C/T rs183886409 + CDS Nonsynonymous[Pro843Ser]
2830 .. 2830 T/G rs57936182 + CDS Nonsynonymous[Ser873Arg]
2841 .. 2841 C/A rs143372639 + CDS Nonsynonymous[Ser877Tyr]
2853 .. 2853 A/C rs201891945 + CDS Nonsynonymous[His881Pro]
2855 .. 2855 A/G rs77424145 + CDS Nonsynonymous[Lys882Glu]
2863 .. 2863 A/C rs141534568 + CDS Nonsynonymous[Glu884Asp]
2866 .. 2866 C/A rs190550780 + CDS Nonsynonymous[Asn885Lys]
2897 .. 2897 C/A rs182439530 + CDS Nonsynonymous[Pro896Thr]
2903 .. 2903 C/T rs17315702 + CDS Nonsynonymous[Arg898Cys]
2904 .. 2904 G/A rs141519917 + CDS Nonsynonymous[Arg898His]
2954 .. 2954 G/T rs187137726 + 3'UTR
2977 .. 2977 C/T rs192261917 + 3'UTR
3043 .. 3043 C/G rs78136924 + 3'UTR
3219 .. 3219 A/G rs114263055 + 3'UTR
4044 .. 4044 T/C rs35899829 + 3'UTR
4071 .. 4071 T/G rs13420206 + 3'UTR
4074 .. 4074 T/C rs183019025 + 3'UTR
4092 .. 4092 T/C rs139856096 + 3'UTR
4098 .. 4098 C/T rs13404348 + 3'UTR
4127 .. 4127 G/T rs188764750 + 3'UTR
4250 .. 4250 A/G rs193208455 + 3'UTR
4295 .. 4295 C/T rs143231911 + 3'UTR
4385 .. 4385 T/A rs184951264 + 3'UTR
4498 .. 4498 G/C rs117435766 + 3'UTR
4505 .. 4505 A/G rs113867507 + 3'UTR
4729 .. 4729 A/G rs55775535 + 3'UTR
4958 .. 4958 C/T rs139054304 + 3'UTR
4978 .. 4978 G/C rs187402942 + 3'UTR
5122 .. 5122 T/C rs79538090 + 3'UTR
5145 .. 5145 A/T rs149968443 + 3'UTR
5286 .. 5286 A/G rs192270889 + 3'UTR
5401 .. 5401 T/C rs56053838 + 3'UTR
5431 .. 5431 T/C rs56070363 + 3'UTR
5452 .. 5452 C/G rs114538348 + 3'UTR
5487 .. 5487 T/C rs118144874 + 3'UTR
5521 .. 5521 G/A rs116507692 + 3'UTR
5552 .. 5552 A/G rs58520042 + 3'UTR
5655 .. 5655 C/G rs13411160 + 3'UTR
5663 .. 5663 G/A rs300170 - 3'UTR
5672 .. 5672 T/G rs184105541 + 3'UTR
5676 .. 5676 A/G rs73218901 + 3'UTR
5697 .. 5697 A/G rs76591166 + 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 1632 1674 +
L1M4 3897 4048 +
AluSz6 4049 4357 -
L1M4 4358 4377 +
L1M4 4380 5594 +
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene Repeat mask viewerRepeat Mask Viewer