| Basic information |
| Official Symbol | NIPAL4 |
| Description | NIPA-like domain containing 4 |
| Other Aliases | ICHTHYIN, ICHYN |
| Other Description | NIPA-like protein 4; magnesium transporter NIPA4; non-imprinted in Prader-Willi/Angelman syndrome region protein 4 |
| Mutation type | premature termination 13:W->TGA |
| Location | Scaffold143796_1:4573574 4557774 - |
| Wiki | Wikipedia GeneCard |
| Sequence |
| NIPAL4 |
GGTGACTCTTCCTTGGGGACCCTCCCCCTCTGAGGTGCGTCATTCTCCCC ACCCTTGGGTCCCGACCCCGGCGGCTTCTCGCGTGCGAGACACGCCGGGG ACACGTCTTGGCTACCTGCTCCGGAGCGGAGGATCCGGGGCTCCATCCGC CCAGGGCCCCATGGAGCTGCGGGTCAGCAACACCAGCTGCGAGAACGGTG CGTGCGTGCGGGCTCAGGTTCGCTGATCAGCCTCTACTGCTCCTCCCAAC AAGTCCTGTGTCAGATCATCGGTGACCTCAGCCCCGAGGTGCCCAGCAAT GCCACCCTTAGCAGCTGGAAGGAGAGGATCAGGCAGCACTATGGCTTCTA CATTGGCCTGGGCCTGGCATTTGTGTCCAGCTTCCTCATTGGCAGCAGTG TCATCCTCAAGAAGAAAGGACTCTTACGACTTGTGGCCTCGGGATCCACT CGAGCTGTGGACGGAGGCTATGGCTACCTGAAGGATGCAATGTGGTGGGC TGGATTTCTCACCATGGCTGCTGGAGAAGTTGCCAACTTCGGGGCCTACG CATTTGCTCCTGCAACAGTCATCACACCTCTGGGAGCACTGAGTGTCCTC ATAAGTGCCATCTTTTCATCCTATTTCCTGGGAGAGTGTCTCAATCTTCT GGGGAAGCTGGGCTGTGTCATCTGTGTGGCCGGCAGCACAGTGATGGTCA TTCATGCGCCCGAGGAAGAGAAGGTCGCCACCATCATGGAGTTGGCTTCC AAGATGAAAAACACAGGGTTCATCGTATTTGCTGTGCTTCTGGTGGTGTC CTGCCTCATCCTCATCTTCATCATTGCCCCACGTTATGGACAAAGGAATA TCCTCATTTACATCATCATCTGCTCTGTGATCGGGGCCTTCTCTGTGACT GCCGTCAAGGGTCTGGGCATCACCATTAGGAACTTCTTCCAGGGGTTGCC AGTTGTGCGGCACCCCCTCCCTTACATCCTGTCCCTCATCCTGGCACTTT CCCTCAGCACTCAGGTCAACTTTCTCAACAGGGCATTGGACATATTCAAC ACTTCCCTGGTGTTCCCCATCTACTATGTGTTCTTCACCACAGTGGTCGT CACCTCCTCCATCATCCTCTTCCAGGAGTGGTACAGCATGTCTGCTATCG ACATCGTGGGCACCCTCTCAGGCTTTACTACCATCATCCTGGGTGTCTTC ATGCTTCATGCTTTCAAAGACCTGGACATCAGCTGGGCCAGCTTACCCCA TATGCACAAAAACCCAACCCCACCTCCCGCCCCGGAGCCTACTGTCATCA GACTAGAAGACAAAAACGTCCTTGTGGACAACATAGAACTTACCAACACC CCATCGCCAGAACAGAAGCCCAAAGTATTTATAATCCATTCT |
| Alignment |
| Align specie | Pep length | Pep align begin | Pep align end | Mutaion type and postion |
| Human | 466 | 3 | 466 | Premature termination 13:W->TGA |
Instructions:
*** -> premature termination codon; # -> frame shift
Alignment:
Human pep sequence --->
||||||||||||||||||||||
Treeshrew pep sequence --->
Treeshrew cds sequence --->
GlyAspSerSerProGlyThrLeuProLeuTrpAspAlaSerLeuSerProProLeuGly
|||||||||||| ||||||||||||||| |||||| |||||||||||||||
GlyAspSerSerLeuGlyThrLeuProLeu***GlyAlaSerPheSerProProLeuGly
GGTGACTCTTCCTTGGGGACCCTCCCCCTCTGAGGTGCGTCATTCTCCCCACCCTTGGGT
ProAspProGlyGlyPheSerArgAlaSerHisAlaGlyAspLysSerArgProProAla
||||||||||||||||||||||||||| |||||||||||| ||| ||||||
ProAspProGlyGlyPheSerArgAlaArgHisAlaGlyAspThrSerTrpLeuProAla
CCCGACCCCGGCGGCTTCTCGCGTGCGAGACACGCCGGGGACACGTCTTGGCTACCTGCT
ProGluLeuGlySerProGlyAlaValArgProArgValGlySerCysAlaProGlyPro
|||||| ||| |||||| |||
ProGluArgArgIleArgGlySerIleArgProGlyProHisGlyAlaAlaGlyGlnGln
CCGGAGCGGAGGATCCGGGGCTCCATCCGCCCAGGGCCCCATGGAGCTGCGGGTCAGCAA
MetGluLeuArgValSerAsnThrSerCysGlu{A} >>>> Target Intron 1 >
|||||| { } 6531 bp
HisGlnLeuArgGluArgCysValArgAlaGly{S}-+
CACCAGCTGCGAGAACGGTGCGTGCGTGCGGGC{T}ct
>>> {sn}GlySerLeuLeuHisLeuTyrCysSerSerGlnGluValLeuCysGlnIle
{ }||||||||| |||||||||||||||||| |||||||||||||||
+-{er}GlySerLeuIleSerLeuTyrCysSerSerGlnGlnValLeuCysGlnIle
at{CA}GGTTCGCTGATCAGCCTCTACTGCTCCTCCCAACAAGTCCTGTGTCAGATC
ValAsnAspLeuSerProGluValProSerAsnAlaThrPheHisSerTrpGlnGluArg
||||||||||||||||||||||||||||||||| |||||| ||||||
IleGlyAspLeuSerProGluValProSerAsnAlaThrLeuSerSerTrpLysGluArg
ATCGGTGACCTCAGCCCCGAGGTGCCCAGCAATGCCACCCTTAGCAGCTGGAAGGAGAGG
IleArgGlnAsnTyrGlyPheTyrIleGlyLeuGlyLeuAlaPheLeuSerSerPheLeu
||||||||| ||||||||||||||||||||||||||||||||| ||||||||||||
IleArgGlnHisTyrGlyPheTyrIleGlyLeuGlyLeuAlaPheValSerSerPheLeu
ATCAGGCAGCACTATGGCTTCTACATTGGCCTGGGCCTGGCATTTGTGTCCAGCTTCCTC
IleGlySerSerValIleLeuLysLysLysGlyLeuLeuArgLeuValAlaThrGlyAla
||||||||||||||||||||||||||||||||||||||||||||||||||| |||
IleGlySerSerValIleLeuLysLysLysGlyLeuLeuArgLeuValAlaSerGlySer
ATTGGCAGCAGTGTCATCCTCAAGAAGAAAGGACTCTTACGACTTGTGGCCTCGGGATCC
ThrArgAla{V} >>>> Target Intron 2 >>>> {al}AspGlyGlyPheGly
|||||||||{|} 3574 bp {||}||||||||| |||
ThrArgAla{V}++ ++{al}AspGlyGlyTyrGly
ACTCGAGCT{G}gt ag{TG}GACGGAGGCTATGGC
TyrLeuLysAspAlaMetTrpTrpAlaGlyPheLeuThr{M} >>>> Target Intr
|||||||||||||||||||||||||||||||||||||||{|} 1707 bp
TyrLeuLysAspAlaMetTrpTrpAlaGlyPheLeuThr{M}++
TACCTGAAGGATGCAATGTGGTGGGCTGGATTTCTCACC{A}gt
on 3 >>>> {et}AlaAlaGlyGluValAlaAsnPheGlyAlaTyrAlaPheAlaPro
{||}|||||||||||||||||||||||||||||||||||||||||||||
++{et}AlaAlaGlyGluValAlaAsnPheGlyAlaTyrAlaPheAlaPro
ag{TG}GCTGCTGGAGAAGTTGCCAACTTCGGGGCCTACGCATTTGCTCCT
AlaThrValValThrProLeuGlyAlaLeuSerValLeuIle{Se} >>>> Target
||||||||| ||||||||||||||||||||||||||||||{||} 219
AlaThrValIleThrProLeuGlyAlaLeuSerValLeuIle{Se}++
GCAACAGTCATCACACCTCTGGGAGCACTGAGTGTCCTCATA{AG}gt
Intron 4 >>>> {r}AlaIleLeuSerSerTyrPheLeuArgGluSerLeuAsnLeu
4 bp {|}|||||| ||||||||||||||| ||| |||||||||
++{r}AlaIlePheSerSerTyrPheLeuGlyGluCysLeuAsnLeu
ag{T}GCCATCTTTTCATCCTATTTCCTGGGAGAGTGTCTCAATCTT
LeuGlyLysLeuGlyCysValIleCysValAlaGlySerThrValMetValIleHisAla
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
LeuGlyLysLeuGlyCysValIleCysValAlaGlySerThrValMetValIleHisAla
CTGGGGAAGCTGGGCTGTGTCATCTGTGTGGCCGGCAGCACAGTGATGGTCATTCATGCG
ProGluGluGluLysValThrThrIleMetGluMetAlaSerLysMetLysAspThr{G}
|||||||||||||||||| |||||||||||| ||||||||||||||| |||{|}
ProGluGluGluLysValAlaThrIleMetGluLeuAlaSerLysMetLysAsnThr{G}
CCCGAGGAAGAGAAGGTCGCCACCATCATGGAGTTGGCTTCCAAGATGAAAAACACA{G}
>>>> Target Intron 5 >>>> {ly}PheIleValPheAlaValLeuLeuLeu
403 bp {||}||||||||||||||||||||||||
++ ++{ly}PheIleValPheAlaValLeuLeuVal
gt ag{GG}TTCATCGTATTTGCTGTGCTTCTGGTG
ValSerCysLeuIleLeuIlePheValIleAlaProArgTyrGlyGlnArgAsnIleLeu
|||||||||||||||||||||||| |||||||||||||||||||||||||||||||||
ValSerCysLeuIleLeuIlePheIleIleAlaProArgTyrGlyGlnArgAsnIleLeu
GTGTCCTGCCTCATCCTCATCTTCATCATTGCCCCACGTTATGGACAAAGGAATATCCTC
IleTyrIleIleIleCysSerValIleGlyAlaPheSerValAlaAlaValLysGlyLeu
|||||||||||||||||||||||||||||||||||||||||| |||||||||||||||
IleTyrIleIleIleCysSerValIleGlyAlaPheSerValThrAlaValLysGlyLeu
ATTTACATCATCATCTGCTCTGTGATCGGGGCCTTCTCTGTGACTGCCGTCAAGGGTCTG
GlyIleThrIleLysAsnPhePheGlnGlyLeuProValValArgHisProLeuProTyr
|||||||||||| |||||||||||||||||||||||||||||||||||||||||||||
GlyIleThrIleArgAsnPhePheGlnGlyLeuProValValArgHisProLeuProTyr
GGCATCACCATTAGGAACTTCTTCCAGGGGTTGCCAGTTGTGCGGCACCCCCTCCCTTAC
IleLeuSerLeuIleLeuAlaLeuSerLeuSerThrGlnValAsnPheLeuAsnArgAla
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
IleLeuSerLeuIleLeuAlaLeuSerLeuSerThrGlnValAsnPheLeuAsnArgAla
ATCCTGTCCCTCATCCTGGCACTTTCCCTCAGCACTCAGGTCAACTTTCTCAACAGGGCA
LeuAspIlePheAsnThrSerLeuValPheProIleTyrTyrValPhePheThrThrVal
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
LeuAspIlePheAsnThrSerLeuValPheProIleTyrTyrValPhePheThrThrVal
TTGGACATATTCAACACTTCCCTGGTGTTCCCCATCTACTATGTGTTCTTCACCACAGTG
ValValThrSerSerIleIleLeuPheLysGluTrpTyrSerMetSerAlaValAspIle
||||||||||||||||||||||||||| ||||||||||||||||||||| ||||||
ValValThrSerSerIleIleLeuPheGlnGluTrpTyrSerMetSerAlaIleAspIle
GTCGTCACCTCCTCCATCATCCTCTTCCAGGAGTGGTACAGCATGTCTGCTATCGACATC
AlaGlyThrLeuSerGlyPheValThrIleIleLeuGlyValPheMetLeuHisAlaPhe
|||||||||||||||||| ||||||||||||||||||||||||||||||||||||
ValGlyThrLeuSerGlyPheThrThrIleIleLeuGlyValPheMetLeuHisAlaPhe
GTGGGCACCCTCTCAGGCTTTACTACCATCATCCTGGGTGTCTTCATGCTTCATGCTTTC
LysAspLeuAspIleSerCysAlaSerLeuProHisMetHisLysAsnProProProSer
|||||||||||||||||| |||||||||||||||||||||||||||||| |||
LysAspLeuAspIleSerTrpAlaSerLeuProHisMetHisLysAsnProThrProPro
AAAGACCTGGACATCAGCTGGGCCAGCTTACCCCATATGCACAAAAACCCAACCCCACCT
ProAlaProGluProThrValIleArgLeuGluAspLysAsnValLeuValAspAsnIle
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
ProAlaProGluProThrValIleArgLeuGluAspLysAsnValLeuValAspAsnIle
CCCGCCCCGGAGCCTACTGTCATCAGACTAGAAGACAAAAACGTCCTTGTGGACAACATA
GluLeuAlaSerThrSerSerProGluGluLysProLysValPheIleIleHisSer
|||||| ||| ||||||||| |||||||||||||||||||||||||||
GluLeuThrAsnThrProSerProGluGlnLysProLysValPheIleIleHisSer
GAACTTACCAACACCCCATCGCCAGAACAGAAGCCCAAAGTATTTATAATCCATTCT
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