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: HIT000051266 Accession number: BC034959 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Similar to Long-chain-fatty-acid--CoA ligase 4; EC=6.2.1.3; Long-chain acyl-CoA synthetase 4; LACS 4;
 
 

Transcript original information
Accession number BC034959.2
CAGE tag ID NA
EST ID NA
Clone Number MGC:26481 IMAGE:4824121
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ; Antibody: searching human antibodies at "BIO-kaimono.com" Antibody (KCNE5) ; Catalog: searching experimental product catalogs at "BIO-kaimono.com" Catalog (KCNE5);
Sequence data provider Provider:MGC/NCI
Annotation project H-Invitational FLcDNA
Length of cDNA 4900[bp] (No. of exon:16)[A:1580 T:1541 G:982 C:797]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type Testis
Develpmental stage NA
Mini-G
Sequence quality information
CDS feature Complete CDS
Kozak sequence NA
PolyA Site: 4885(+) Signal: 4864-4868(+)
Vector/adapter sequence NA
Frame shift NA
Remaining intron NA
Splice site acceptor (NAGNAG) AAGAAG; 
Transcript quality feature NA
Notes NA

Gene structure information  G-integra H-DBAS cDNA-genome alignment
H-Inv cluster ID HIX0028331
Genomic location  G-integra Help Chromosome X
Location Xq23
Position 108884565- 108976484
Strand -
Possible duplicated location(s) NA
Gene structure 16 exon(s)
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:2182
KEGG GENES KEGG GENES(2182)
GeneCard GeneCardKCNE5*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 HIP000028952
Predicted CDS 180..2192;  670[aa];  Orientation:+3; 
Codon Adaptation Index (CAI). 0.724
Database links RefSeq NP_004449
UniProt NA
CCDS CCDS14549

Motif information
ORF

length(670),orf(180:2192)
MAKRIKAKPTSDKPGSPYRSVTHFDSLAVIDIPGADTLDKLFDHAVSKFG
KKDSLGTREILSEENEMQPNGKVFKKLILGNYKWMNYLEVNRRVNNFGSG
LTALGLKPKNTIAIFCETRAEWMIAAQTCFKYNFPLVTLYATLGKEAVVH
GLNESEASYLITSVELLESKLKTALLDISCVKHIIYVDNKAINKAEYPEG
FEIHSMQSVEELGSNPENLGIPPSRPTPSDMAIVMYTSGSTGRPKGVMMH
HSNLIAGMTGQCERIPGLGPKDTYIGYLPLAHVLELTAEISCFTYGCRIG
YSSPLTLSDQSSKIKKGSKGDCTVLKPTLMAAVPEIMDRIYKNVMSKVQE
MNYIQKTLFKIGYDYKLEQIKKGYDAPLCNLLLFKKVKALLGGNVRMMLS
GGAPLSPQTHRFMNVCFCCPIGQGYGLTESCGAGTVTEVTDYTTGRVGAP
LICCEIKLKDWQEGGYTINDKPNPRGEIVIGGQNISMGYFKNEEKTAEDY
SVDENGQRWFCTGDIGEFHPDGCLQIIDRKKDLVKLQAGEYVSLGKVEAA
LKNCPLIDNICAFAKSDQSYVISFVVPNQKRLTLLAQQKGVEGTWVDICN
NPAMEAEILKEIREAANAMKLERFEIPIKVRLSPEPWTPETGLVTDAFKL
KRKELRNHYLKDIERMYGGK*
a.a.
length
InterPro Name
length(470), motif(67:536) 470 IPR000873 AMP-dependent synthetase/ligase [Domain]
length(12), motif(234:245) 12 IPR020845 AMP-binding, conserved site [Conserved_site]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000051266
H-Inv cluster ID Locus viewHIX0028331
Accession number BC034959.2
CAGE tag ID NA
EST ID NA
Transcript feature  Help NO; 
Coding potential  Help Protein coding; 
Definition Similar to Long-chain-fatty-acid--CoA ligase 4; EC=6.2.1.3; Long-chain acyl-CoA synthetase 4; LACS 4;
Similarity category  Help Category: Similar to known protein(Category II).
Similar to known protein (O60488)  [Identity/coverage = 100.0%/94.66%] to Homo sapiens (Human). protein.
Experimental evidence Protein evidence
PubMed ID 948074895983241188946515489334169599741866964821269460ALL
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 KCNE5
HGNC aliases "potassium voltage-gated channel, Isk-related family, member 1-like"
HGNC name potassium channel, voltage gated subfamily E regulatory beta subunit 5
DDBJ ACSL4
UniProt ACSL4
EC number EC 6.2.1.3long-chain-fatty-acid CoA ligase; 
GGDB
(GlycoGene Database)
Gene symbol NA
Familly NA
Designation NA
Expression NA
KEGG metabolic pathway 00071 :Fatty acid metabolism;  03320 :PPAR signaling pathway;  04920 :Adipocytokine signaling pathway; 
Protein-protein interaction (PPI) PPI viewer H-Inv protein ID HIP000028952
No. of interaction 1
Interaction partner(s) HIP000071861
BIND NA
DIP NA
MINT NA
HPRD NA
IntAct NA
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:2182
KEGG GENES KEGG GENES(2182)
GeneCard GeneCardKCNE5*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); 
Biological process metabolic process (GO:0008152); 

Subcellular localization information  Last modified:27-May-2015
WoLF PSORT mitochondria;  cytosol; 
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
38 665 1pg3A 1e-48 15.0 540/634 e.23.1.1
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 AGhsA010302; 
Affymetrix
GeneChip
HG-Focus 202422_s_at; 
HG-U133 202422_s_at; 
HG-U133A 202422_s_at; 
HG-U133A_2 202422_s_at; 
HG-U133B NA
HG-U133_Plus_2 202422_s_at; 
HG-U95 38099_r_at; 
HG-U95A 38099_r_at; 
HG-U95B NA
HG-U95C NA
HG-U95D NA
HG-U95E NA
HG-U95Av2 NA
HuEx-1_0 3986986;  3986987;  3986989;  3987002;  4017814;  4017815;  4017816;  4017819;  4017820;  4017821;  4017822;  4017823;  4017825;  4017829;  4017831;  4017832;  4017834;  4017835;  4017836;  4017837;  4017849;  4017869; 
HuGeneFL NA
Agilent Human 1A Oligo Microarray:PGID215 A_23_P217564; 
Whole Human Genome Oligo Microarray:PGID247 A_23_P217564; 
Related H-InvDB links H-ANGELH-ANGEL DNAProbeLocatorDNAProbeLocator

Disease/pathology information  DiseaseInfo Viewer LEGENDA Last modified:27-May-2015
Disease relation Disease name: Mental retardation, X-linked nonspecific, 63 (300387); 
Related information in OMIM OMIM ID:  300157;  Title: ACYL-CoA SYNTHETASE LONG-CHAIN FAMILY MEMBER 4
Co-localized orphan diseases NA
Disease related mutation MutationView:  300157
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:(2182)
Disease Entrez Gene ID:(2182)
Substance Entrez Gene ID:(2182)
Related H-InvDB links DiseaseInfo ViewerDiseaseInfo ViewerLEGENDALEGENDA

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
247 .. 247 A/G rs199837852 - CDS Nonsynonymous[His23Arg]
251 .. 251 C/T rs200252463 - CDS Synonymous[Phe24Phe]
425 .. 425 T/C rs147277991 - CDS Synonymous[Tyr82Tyr]
466 .. 466 A/T rs150857957 - CDS Nonsynonymous[Asn96Ile]
482 .. 482 C/T rs143811975 - CDS Synonymous[Leu101Leu]
539 .. 539 C/T rs139907452 - CDS Synonymous[Ala120Ala]
542 .. 542 A/G rs144600261 - CDS Synonymous[Glu121Glu]
577 .. 577 A/G rs149336490 - CDS Nonsynonymous[Asn133Ser]
637 .. 637 A/G rs138646432 - CDS Nonsynonymous[Asn153Ser]
707 .. 707 A/G rs150551785 - CDS Synonymous[Leu176Leu]
708 .. 708 G/C rs181062385 - CDS Nonsynonymous[Asp177His]
793 .. 793 G/A rs142579865 - CDS Nonsynonymous[Ser205Asn]
859 .. 859 C/T rs192914034 - CDS Nonsynonymous[Thr227Met]
860 .. 860 G/A rs137922332 - CDS Synonymous[Thr227Thr]
887 .. 887 T/C rs187811546 - CDS Synonymous[Tyr236Tyr]
902 .. 902 T/G rs145379210 - CDS Synonymous[Thr241Thr]
1110 .. 1110 T/G rs34221826 + CDS Nonsynonymous[Ser311Ala]
1180 .. 1180 C/T rs122458139 + CDS Nonsynonymous[Pro334Leu]
1253 .. 1253 G/T rs189693653 - CDS Synonymous[Leu358Leu]
1478 .. 1478 T/C/A rs112736666 - CDS
1504 .. 1504 A/G rs200451158 - CDS Nonsynonymous[Tyr442Cys]
1506 .. 1506 A/G rs200793312 - CDS Nonsynonymous[Thr443Ala]
1571 .. 1571 C/T rs140228018 - CDS Synonymous[Gly464Gly]
1572 .. 1572 G/A rs148205499 - CDS Nonsynonymous[Gly465Ser]
1632 .. 1632 A/G rs143027788 - CDS Nonsynonymous[Ile485Val]
1655 .. 1655 T/C rs201894895 - CDS Synonymous[Asn492Asn]
1687 .. 1687 A/G rs148996116 - CDS Nonsynonymous[Asp503Gly]
1697 ^ 1698 -/C rs35262228 - CDS
1764 .. 1764 C/A rs122458138 + CDS Nonsynonymous[Arg529Ser]
1820 .. 1820 G/A rs17853346 - CDS Synonymous[Val547Val]
2031 .. 2031 G/A rs145872865 - CDS Nonsynonymous[Ala618Thr]
2047 .. 2047 G/A rs187046661 - CDS Nonsynonymous[Arg623Gln]
2219 .. 2219 G/A rs150760891 - 3'UTR
2229 .. 2229 G/A rs184672678 - 3'UTR
2246 .. 2246 C/T rs1802109 + 3'UTR
2350 .. 2350 G/A rs10126612 - 3'UTR
2466 .. 2466 T/C rs192073376 - 3'UTR
2477 .. 2477 G/T rs189248428 - 3'UTR
2611 .. 2611 G/A rs147143931 - 3'UTR
2664 .. 2664 A/G rs183825301 - 3'UTR
2667 .. 2667 A/G rs192123348 - 3'UTR
2731 .. 2731 T/C rs187600925 - 3'UTR
3162 .. 3162 A/G rs182109695 - 3'UTR
3258 .. 3258 T/G rs1063544 + 3'UTR
3336 .. 3336 T/C rs111616134 - 3'UTR
3426 .. 3426 A/G rs190157038 - 3'UTR
3438 .. 3438 T/C rs185398001 - 3'UTR
3543 .. 3543 T/C rs181617170 - 3'UTR
3551 .. 3551 G/A rs55955620 - 3'UTR
3917 .. 3917 C/G rs191555789 - 3'UTR
3987 .. 3987 T/C rs11552088 + 3'UTR
4063 .. 4063 T/C rs55942537 - 3'UTR
4241 .. 4241 A/G rs186824192 - 3'UTR
4273 .. 4273 C/A rs137881687 - 3'UTR
4292 ^ 4293 -/C rs34685485 - 3'UTR
4650 .. 4650 C/T rs79265406 - 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
Tigger19b 2513 2565 +
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene Repeat mask viewerRepeat Mask Viewer