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H-InvDB_9.0 released on May 27, 2015.
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H-Invitational ID: HIT000001335 Accession number: AB046840 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Similar to Periaxin;
 
 

Transcript original information
Accession number AB046840.1
CAGE tag ID NA
EST ID NA
Clone Number hj04150
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ; Antibody: searching human antibodies at "BIO-kaimono.com" Antibody (PRX) ; Catalog: searching experimental product catalogs at "BIO-kaimono.com" Catalog (PRX);
Sequence data provider Provider:KDRI
Annotation project H-Invitational FLcDNA
Length of cDNA 4790[bp] (No. of exon:4)[A:944 T:807 G:1659 C:1380]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type NA
Develpmental stage NA
Mini-G
Sequence quality information
CDS feature N-truncated
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 HIX0015135
Genomic location  G-integra Help Chromosome 19
Location 19q13.2
Position 40899673- 40910195
Strand -
Possible duplicated location(s) NA
Gene structure 4 exon(s)
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:57716
KEGG GENES KEGG GENES(57716)
GeneCard GeneCardPRX*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 HIP000127906
Predicted CDS 394..4590;  1398[aa];  Orientation:+1; 
Codon Adaptation Index (CAI). 0.791

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000001335
H-Inv cluster ID Locus viewHIX0015135
Accession number AB046840.1
CAGE tag ID NA
EST ID NA
Transcript feature  Help NO;  Splicing isoformSplicing isoform
Coding potential  Help Protein coding; 
Definition Similar to Periaxin;
Similarity category  Help Category: Similar to known protein(Category II).
Similar to known protein (Q9BXM0)  [Identity/coverage = 99.712%/99.66%] to Homo sapiens (Human). protein.
Experimental evidence Protein evidence
PubMed ID 109978771113336511157804150578241548933422847150ALL
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 PRX
HGNC aliases NA
HGNC name periaxin
DDBJ KIAA1620
UniProt PRX
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 HIP000127906
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:57716
KEGG GENES KEGG GENES(57716)
GeneCard GeneCardPRX*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 FR109308
Accession
Description
Location
PMID
FR ID FR180251
Accession
Description
Location
PMID


Subcellular localization information  Last modified:27-May-2015
WoLF PSORT mitochondria;  cytosol;  nuclear; 
Target P Not predicted
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.

Gene expression information  H-ANGEL DNAProbeLocator Last modified:27-May-2015
Tissue-specific expression  H-ANGEL NA
Probe
information DNAProbeLocator
AceGene AGhsA260223; 
Affymetrix
GeneChip
HG-Focus NA
HG-U133 220024_s_at;  222255_at; 
HG-U133A 220024_s_at;  222255_at; 
HG-U133A_2 220024_s_at;  222255_at; 
HG-U133B NA
HG-U133_Plus_2 220024_s_at;  222255_at; 
HG-U95 89201_at; 
HG-U95A NA
HG-U95B NA
HG-U95C NA
HG-U95D 89201_at; 
HG-U95E NA
HG-U95Av2 NA
HuEx-1_0 3833391;  3862612;  3862613;  3862614;  3862615;  3862616;  3862619;  3862620;  3862621;  3862625;  3862626;  3862627; 
HuGeneFL NA
Agilent Human 1A Oligo Microarray:PGID215 A_23_P429959; 
Whole Human Genome Oligo Microarray:PGID247 A_23_P429959;  A_24_P390909; 
Related H-InvDB links H-ANGELH-ANGEL DNAProbeLocatorDNAProbeLocator

Disease/pathology information  DiseaseInfo Viewer LEGENDA Last modified:27-May-2015
Disease relation Disease name: Dejerine-Sottas neuropathy, autosomal recessive (145900); 
Related information in OMIM OMIM ID:  605725;  Title: PERIAXIN
Co-localized orphan diseases NA
Disease related mutation MutationView:  605725
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:(57716)
Disease Entrez Gene ID:(57716)
Substance Entrez Gene ID:(57716)
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
189 .. 189 C/T rs181706898 - 5'UTR
307 .. 307 C/G rs190449822 - 5'UTR
375 .. 375 G/A rs2613842 + 5'UTR
443 .. 443 A/G rs202192239 - CDS Nonsynonymous[Glu17Gly]
468 .. 468 G/A rs142535919 - CDS Synonymous[Thr25Thr]
471 .. 471 G/A rs113800664 - CDS Synonymous[Glu26Glu]
503 .. 503 C/T/A rs138047753 - CDS
532 .. 532 C/G rs115090201 - CDS Nonsynonymous[Arg47Gly]
661 .. 661 G/A rs143584496 - CDS Nonsynonymous[Glu90Lys]
685 .. 685 C/T rs149325913 - CDS Synonymous[Leu98Leu]
687 .. 687 G/A rs138354625 - CDS Synonymous[Leu98Leu]
705 .. 705 C/T rs744389 + CDS Synonymous[Thr104Thr]
759 .. 759 G/T rs142003722 - CDS Synonymous[Pro122Pro]
844 .. 844 G/A rs142436391 - CDS Nonsynonymous[Ala151Thr]
868 .. 868 G/A rs149219327 - CDS Nonsynonymous[Glu159Lys]
870 .. 870 G/A rs4803335 - CDS Synonymous[Glu159Glu]
898 .. 898 C/T rs10425452 - CDS Nonsynonymous[Arg169Cys]
953 .. 953 G/A rs76756143 - CDS Nonsynonymous[Arg187His]
979 .. 979 C/T rs45521038 - CDS Nonsynonymous[Arg196Cys]
985 .. 985 C/T rs104894706 + CDS AA-STOP[Arg198*]
996 .. 996 C/T rs144157275 - CDS Synonymous[Ala201Ala]
1030 .. 1030 G/A rs112973322 - CDS Nonsynonymous[Ala213Thr]
1117 .. 1117 C/T rs199863083 - CDS Nonsynonymous[Arg242Trp]
1118 .. 1118 G/A rs77917609 - CDS Nonsynonymous[Arg242Gln]
1120 .. 1120 C/T rs190395669 - CDS Synonymous[Leu243Leu]
1130 .. 1130 C/T rs118071705 - CDS Nonsynonymous[Ala246Val]
1146 .. 1146 C/T rs3814289 + CDS Synonymous[Pro251Pro]
1222 .. 1222 C/A rs200033507 - CDS Nonsynonymous[Leu277Ile]
1251 .. 1251 G/A rs112084793 - CDS Synonymous[Glu286Glu]
1291 .. 1291 C/T rs185112635 - CDS Nonsynonymous[Pro300Ser]
1365 .. 1365 G/T rs139544245 - CDS Synonymous[Val324Val]
1392 .. 1392 G/A rs146323928 - CDS Synonymous[Pro333Pro]
1393 .. 1393 A/G rs143710873 - CDS Nonsynonymous[Thr334Ala]
1418 .. 1418 C/T rs139260704 - CDS Nonsynonymous[Pro342Leu]
1425 .. 1425 A/C rs150772010 - CDS Synonymous[Ala344Ala]
1439 .. 1439 G/A rs141288626 - CDS Nonsynonymous[Arg349Gln]
1450 .. 1450 C/T rs73933276 - CDS Nonsynonymous[Pro353Ser]
1479 .. 1479 T/C rs199882125 - CDS Synonymous[Leu362Leu]
1489 .. 1489 C/T rs144183238 - CDS AA-STOP[Arg366*]
1499 .. 1499 C/A rs143400291 - CDS Nonsynonymous[Ala369Asp]
1501 .. 1501 C/T rs104894715 + CDS AA-STOP[Arg370*]
1512 .. 1512 A/G rs137930942 - CDS Synonymous[Glu373Glu]
1590 .. 1590 G/T rs200244689 - CDS Synonymous[Gly399Gly]
1610 .. 1610 G/A rs146948818 - CDS Nonsynonymous[Arg406Gln]
1613 .. 1613 C/T rs141239550 - CDS Nonsynonymous[Pro407Leu]
1615 .. 1615 G/A rs117336941 - CDS Nonsynonymous[Ala408Thr]
1621 .. 1621 C/T rs150244426 - CDS Nonsynonymous[Pro410Ser]
1668 .. 1668 C/G rs201031197 - CDS Synonymous[Pro425Pro]
1680 .. 1680 C/T rs76960467 - CDS Synonymous[Ile429Ile]
1681 .. 1681 G/A rs151110565 - CDS Nonsynonymous[Gly430Arg]
1732 .. 1732 C/G rs201044009 - CDS Nonsynonymous[Pro447Ala]
1768 .. 1768 G/A rs142064826 - CDS Nonsynonymous[Glu459Lys]
1796 .. 1796 C/T rs144530674 - CDS Nonsynonymous[Pro468Leu]
1860 .. 1860 G/A rs140474860 - CDS Synonymous[Pro489Pro]
1882 .. 1882 G/C rs146789340 - CDS Nonsynonymous[Glu497Gln]
1899 .. 1899 A/G rs143643767 - CDS Synonymous[Ser502Ser]
1909 .. 1909 C/T rs192607896 - CDS Nonsynonymous[Leu506Phe]
1937 .. 1937 C/T rs148742209 - CDS Nonsynonymous[Pro515Leu]
1938 .. 1938 G/A rs187786861 - CDS Synonymous[Pro515Pro]
1945 .. 1945 C/T rs144305922 - CDS Nonsynonymous[Arg518Trp]
1960 .. 1960 C/G rs200483634 - CDS Nonsynonymous[Gln523Glu]
1973 .. 1973 T/C rs149715830 - CDS Nonsynonymous[Val527Ala]
2023 .. 2023 C/T rs201337455 - CDS Nonsynonymous[Arg544Trp]
2024 .. 2024 G/A rs139586219 - CDS Nonsynonymous[Arg544Gln]
2045 .. 2045 C/T rs150582069 - CDS Nonsynonymous[Pro551Leu]
2046 .. 2046 G/A rs202113722 - CDS Synonymous[Pro551Pro]
2050 .. 2050 G/A rs61733448 - CDS Nonsynonymous[Val553Met]
2059 .. 2059 A/G rs199629485 - CDS Nonsynonymous[Met556Val]
2076 .. 2076 G/A rs137865843 - CDS Synonymous[Val561Val]
2115 .. 2115 G/A rs184025564 - CDS Synonymous[Val574Val]
2123 .. 2123 C/T rs201829675 - CDS Nonsynonymous[Pro577Leu]
2150 .. 2150 A/G rs113515574 - CDS Nonsynonymous[Glu586Gly]
2166 .. 2166 G/A rs147353593 - CDS Synonymous[Lys591Lys]
2190 .. 2190 G/C rs142723812 - CDS Nonsynonymous[Glu599Asp]
2196 .. 2196 A/T rs148217965 - CDS Nonsynonymous[Lys601Asn]
2278 .. 2278 C/T rs199950689 - CDS Nonsynonymous[Pro629Ser]
2289 .. 2289 G/A rs191737633 - CDS Synonymous[Lys632Lys]
2299 .. 2299 A/G rs201204029 - CDS Nonsynonymous[Met636Val]
2350 .. 2350 G/A rs3814290 + CDS Nonsynonymous[Asp653Asn]
2363 .. 2363 C/T rs118003416 - CDS Nonsynonymous[Pro657Leu]
2364 .. 2364 G/A rs186171971 - CDS Synonymous[Pro657Pro]
2386 .. 2386 C/T rs149183991 - CDS Nonsynonymous[Pro665Ser]
2416 .. 2416 A/G rs61735531 - CDS Nonsynonymous[Met675Val]
2435 .. 2435 G/A rs145856805 - CDS Nonsynonymous[Arg681Gln]
2439 .. 2439 C/T rs140717633 - CDS Synonymous[Leu682Leu]
2442 .. 2442 C/T rs56743160 - CDS Synonymous[Pro683Pro]
2485 .. 2485 G/C rs187194280 - CDS Nonsynonymous[Val698Leu]
2500 .. 2500 G/A rs116855701 - CDS Nonsynonymous[Val703Met]
2505 .. 2505 C/T rs183461864 - CDS Synonymous[Pro704Pro]
2505 ^ 2506 -/T rs34398735 - CDS
2544 .. 2544 T/A rs104894707 + CDS AA-STOP[Cys717*]
2613 ^ 2614 -/C rs34348338 - CDS
2624 .. 2624 T/C rs199931409 - CDS Nonsynonymous[Leu744Pro]
2628 .. 2628 C/T rs144975214 - CDS Synonymous[Pro745Pro]
2628 ^ 2629 -/C rs35735227 - CDS
2642 .. 2642 C/T rs111252437 - CDS Nonsynonymous[Pro750Leu]
2653 .. 2653 G/A rs147587689 - CDS Nonsynonymous[Glu754Lys]
2684 .. 2684 A/G rs202165534 - CDS Nonsynonymous[Lys764Arg]
2689 .. 2689 C/T rs142884199 - CDS Nonsynonymous[Pro766Ser]
2691 .. 2691 C/G rs142637195 - CDS Synonymous[Pro766Pro]
2706 .. 2706 G/A rs148655811 - CDS Synonymous[Pro771Pro]
2739 .. 2739 G/A rs147618050 - CDS Synonymous[Pro782Pro]
2824 .. 2824 C/T rs145272609 - CDS Synonymous[Leu811Leu]
2839 .. 2839 T/C rs201809431 - CDS Nonsynonymous[Ser816Pro]
2847 .. 2847 A/G rs139765804 - CDS Synonymous[Ser818Ser]
2848 .. 2848 C/T rs147441856 - CDS Nonsynonymous[Arg819Cys]
2849 .. 2849 G/A rs149241078 - CDS Nonsynonymous[Arg819His]
2868 .. 2868 G/A rs61733450 - CDS Synonymous[Ala825Ala]
2893 .. 2893 G/C rs116139153 - CDS Nonsynonymous[Val834Leu]
2947 .. 2947 C/G rs141686828 - CDS Nonsynonymous[Pro852Ala]
2992 .. 2992 C/G rs148127181 - CDS Nonsynonymous[Leu867Val]
3011 .. 3011 T/C rs201389706 - CDS Nonsynonymous[Val873Ala]
3019 .. 3019 G/A rs145790961 - CDS Nonsynonymous[Ala876Thr]
3034 .. 3034 G/A rs148451350 - CDS Nonsynonymous[Gly881Arg]
3044 .. 3044 C/T rs268671 + CDS Nonsynonymous[Ala884Val]
3050 .. 3050 G/A rs139005780 - CDS Nonsynonymous[Gly886Asp]
3054 .. 3054 C/T rs268672 + CDS Synonymous[Pro887Pro]
3076 .. 3076 G/A rs201270794 - CDS Nonsynonymous[Glu895Lys]
3114 .. 3114 C/A rs188765166 - CDS Synonymous[Thr907Thr]
3126 .. 3126 C/T rs61735546 - CDS Synonymous[Pro911Pro]
3127 .. 3127 G/A rs145203783 - CDS Nonsynonymous[Ala912Thr]
3148 .. 3148 C/T rs144639467 - CDS Nonsynonymous[Arg919Trp]
3162 .. 3162 A/G rs268673 + CDS Nonsynonymous[Ile923Met]
3174 .. 3174 C/T rs201792838 - CDS Synonymous[Val927Val]
3177 .. 3177 G/A rs140500272 - CDS Synonymous[Lys928Lys]
3216 .. 3216 G/A rs112544351 - CDS Synonymous[Ser941Ser]
3230 .. 3230 C/G rs199734816 - CDS Nonsynonymous[Ala946Gly]
3231 .. 3231 T/C rs145226687 - CDS Synonymous[Ala946Ala]
3236 .. 3236 C/T rs139700059 - CDS Nonsynonymous[Ala948Val]
3247 .. 3247 G/A rs147842738 - CDS Nonsynonymous[Gly952Arg]
3256 .. 3256 C/T rs104894714 + CDS AA-STOP[Arg955*]
3342 .. 3342 G/A rs142228732 - CDS Synonymous[Gly983Gly]
3356 .. 3356 T/A rs200424895 - CDS Nonsynonymous[Leu988Gln]
3413 .. 3413 G/- rs34766564 - CDS
3474 .. 3474 G/C rs62109486 - CDS Nonsynonymous[Lys1027Asn]
3509 .. 3509 A/G rs148600818 - CDS Nonsynonymous[Glu1039Gly]
3512 .. 3512 T/C rs143873932 - CDS Nonsynonymous[Leu1040Pro]
3521 .. 3521 G/T rs149469526 - CDS Nonsynonymous[Gly1043Val]
3544 .. 3544 G/A rs186086914 - CDS Nonsynonymous[Gly1051Ser]
3585 .. 3585 G/T rs139188673 - CDS Nonsynonymous[Lys1064Asn]
3589 .. 3589 T/C rs139125398 - CDS Nonsynonymous[Ser1066Pro]
3598 .. 3598 G/A rs268674 + CDS Nonsynonymous[Gly1069Arg]
3624 .. 3624 C/T rs141297733 - CDS Synonymous[Asp1077Asp]
3626 .. 3626 C/T rs201233076 - CDS Nonsynonymous[Ala1078Val]
3657 .. 3657 C/T rs201535844 - CDS Synonymous[Ser1088Ser]
3678 .. 3678 C/T rs200133532 - CDS Synonymous[Thr1095Thr]
3700 .. 3700 C/T rs147826200 - CDS Nonsynonymous[Pro1103Ser]
3701 .. 3701 C/T rs200659664 - CDS Nonsynonymous[Pro1103Leu]
3756 .. 3756 G/A rs201603024 - CDS Synonymous[Arg1121Arg]
3775 .. 3775 A/T rs199948451 - CDS Nonsynonymous[Thr1128Ser]
3784 .. 3784 C/G rs149732789 - CDS Nonsynonymous[Leu1131Val]
3791 .. 3791 G/C rs199640290 - CDS Nonsynonymous[Gly1133Ala]
3860 .. 3860 C/T rs201393544 - CDS Nonsynonymous[Pro1156Leu]
3877 .. 3877 G/A rs140880177 - CDS Nonsynonymous[Val1162Met]
3906 .. 3906 C/T rs139950446 - CDS Synonymous[Gly1171Gly]
3911 .. 3911 C/T rs142501082 - CDS Nonsynonymous[Ala1173Val]
3912 .. 3912 G/A rs202119177 - CDS Synonymous[Ala1173Ala]
3926 .. 3926 G/A rs139120811 - CDS Nonsynonymous[Gly1178Asp]
3950 .. 3950 C/A rs180852222 - CDS Nonsynonymous[Thr1186Lys]
3973 .. 3973 G/A rs200332462 - CDS Nonsynonymous[Gly1194Arg]
4006 .. 4006 G/- rs35810126 - CDS
4006 .. 4006 G/C rs146061247 - CDS Nonsynonymous[Ala1205Pro]
4042 .. 4042 G/C rs146205352 - CDS Nonsynonymous[Glu1217Gln]
4050 .. 4050 G/A rs143289108 - CDS Synonymous[Ser1219Ser]
4098 .. 4098 A/T rs202219076 - CDS Synonymous[Gly1235Gly]
4143 .. 4143 G/A rs140109585 - CDS Synonymous[Leu1250Leu]
4148 .. 4148 G/A rs185914183 - CDS Nonsynonymous[Arg1252Gln]
4151 .. 4151 C/T rs142762689 - CDS Nonsynonymous[Ala1253Val]
4164 .. 4164 C/T rs149626915 - CDS Synonymous[Ala1257Ala]
4209 .. 4209 A/G rs200139733 - CDS Synonymous[Arg1272Arg]
4248 .. 4248 G/C rs76088917 - CDS Synonymous[Gly1285Gly]
4261 .. 4261 G/A rs150914430 - CDS Nonsynonymous[Glu1290Lys]
4334 .. 4334 G/A rs200835105 - CDS Nonsynonymous[Arg1314His]
4343 .. 4343 G/A rs142978341 - CDS Nonsynonymous[Arg1317His]
4355 .. 4355 C/T rs201618230 - CDS Nonsynonymous[Ala1321Val]
4411 .. 4411 G/A rs139051512 - CDS Nonsynonymous[Val1340Ile]
4423 .. 4423 T/G rs146468976 - CDS Nonsynonymous[Ser1344Ala]
4447 .. 4447 G/A rs201222650 - CDS Nonsynonymous[Val1352Met]
4469 .. 4469 G/A rs142436702 - CDS Nonsynonymous[Arg1359Gln]
4488 .. 4488 G/A rs199974998 - CDS Synonymous[Gln1365Gln]
4517 .. 4517 C/G rs199895355 - CDS Nonsynonymous[Pro1375Arg]
4522 .. 4522 G/A rs138437458 - CDS Nonsynonymous[Val1377Met]
4547 .. 4547 C/T rs143125201 - CDS Nonsynonymous[Pro1385Leu]
4570 .. 4570 G/C rs149093940 - CDS Nonsynonymous[Ala1393Pro]
4615 .. 4615 T/A rs150847470 - 3'UTR
4635 .. 4635 C/T rs200778472 - 3'UTR
4684 .. 4684 G/A rs148357208 - 3'UTR
4702 .. 4702 C/T rs181528790 - 3'UTR
4734 .. 4734 C/T rs189487790 - 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
AluJo 186 329 +
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene;  Repeat mask viewerRepeat Mask Viewer