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Protein

Mirror-image polydactyly gene 1 protein

Gene

MIPOL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Enzyme and pathway databases

BioCyciZFISH:ENSG00000151338-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Mirror-image polydactyly gene 1 protein
Gene namesi
Name:MIPOL1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:21460. MIPOL1.

Subcellular locationi

GO - Cellular componenti

  • nucleus Source: MGI
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving MIPOL1 is found in a patient with mirror-image polydactyly of hands and feet without other anomalies (MIP). Translocation t(2;14)(p23.3;q13). MIP is a very rare congenital anomaly characterized by mirror-image duplication of digits. MIP is occasionally associated with dimelia of the ulna and fibula, tibial and/or fibular hypoplasia, nasal abnormality and other malformations. Most MIP cases are sporadic, but very rare parent-child transmissions observed in familial cases suggest an autosomal mode of inheritance.

Organism-specific databases

DisGeNETi145282.
OpenTargetsiENSG00000151338.
PharmGKBiPA134883770.

Polymorphism and mutation databases

BioMutaiMIPOL1.
DMDMi44888154.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000964901 – 442Mirror-image polydactyly gene 1 proteinAdd BLAST442

Proteomic databases

EPDiQ8TD10.
MaxQBiQ8TD10.
PaxDbiQ8TD10.
PeptideAtlasiQ8TD10.
PRIDEiQ8TD10.

PTM databases

iPTMnetiQ8TD10.
PhosphoSitePlusiQ8TD10.
SwissPalmiQ8TD10.

Expressioni

Tissue specificityi

Expressed very weakly in heart, liver, skeletal muscle, kidney, pancreas and fetal kidney. Not detected in brain, placenta and lung.1 Publication

Gene expression databases

BgeeiENSG00000151338.
CleanExiHS_MIPOL1.
ExpressionAtlasiQ8TD10. baseline and differential.
GenevisibleiQ8TD10. HS.

Organism-specific databases

HPAiHPA002893.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
itself3EBI-2548751,EBI-2548751
ATP5OP480473EBI-2548751,EBI-355815
BEX2Q9BXY83EBI-2548751,EBI-745073
BYSLQ138957EBI-2548751,EBI-358049
CCT3P493685EBI-2548751,EBI-356673
CDK18Q070023EBI-2548751,EBI-746238
CKS1BP610243EBI-2548751,EBI-456371
DIEXFQ68CQ43EBI-2548751,EBI-747711
EAF1Q96JC93EBI-2548751,EBI-769261
EIF4E2O605733EBI-2548751,EBI-398610
ENKD1Q9H0I25EBI-2548751,EBI-744099
FAM161AQ3B8205EBI-2548751,EBI-719941
FBF1Q8TES7-63EBI-2548751,EBI-10244131
HAUS1Q96CS23EBI-2548751,EBI-2514791
MAGEA6P433605EBI-2548751,EBI-1045155
MCM7P339933EBI-2548751,EBI-355924
MFAP1P550813EBI-2548751,EBI-1048159
MYLIPQ8WY643EBI-2548751,EBI-6952711
NEBLO760413EBI-2548751,EBI-2880203
PPP1R13BQ96KQ43EBI-2548751,EBI-1105153
PRPF31F1T0A53EBI-2548751,EBI-10177194
RBM41Q96IZ53EBI-2548751,EBI-740773
RCOR3Q9P2K33EBI-2548751,EBI-743428
RTP5Q14D333EBI-2548751,EBI-10217913
SCNM1Q9BWG63EBI-2548751,EBI-748391
SMARCE1Q969G35EBI-2548751,EBI-455078
SSX3Q999095EBI-2548751,EBI-10295431
TCHPQ9BT923EBI-2548751,EBI-740781
TTC12Q9H892-23EBI-2548751,EBI-10274410
UBE2KP610865EBI-2548751,EBI-473850
USH1CQ9Y6N93EBI-2548751,EBI-954308
ZGPATQ8N5A53EBI-2548751,EBI-3439227
ZGPATQ8N5A5-23EBI-2548751,EBI-10183064

Protein-protein interaction databases

BioGridi126903. 42 interactors.
IntActiQ8TD10. 68 interactors.
STRINGi9606.ENSP00000333539.

Structurei

3D structure databases

ProteinModelPortaliQ8TD10.
SMRiQ8TD10.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili107 – 212Sequence analysisAdd BLAST106
Coiled coili253 – 435Sequence analysisAdd BLAST183

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IMI8. Eukaryota.
ENOG4111VBM. LUCA.
GeneTreeiENSGT00390000017800.
HOGENOMiHOG000113592.
HOVERGENiHBG052477.
InParanoidiQ8TD10.
OMAiEQRKLKF.
OrthoDBiEOG091G0ANZ.
PhylomeDBiQ8TD10.
TreeFamiTF331912.

Family and domain databases

InterProiIPR026175. MIPOL1.
[Graphical view]
PANTHERiPTHR22089. PTHR22089. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8TD10-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MENWSKDITH SYLEQETTGI NKSTQPDEQL TMNSEKSMHR KSTELVNEIT
60 70 80 90 100
CENTEWPGQR STNFQIISSY PDDESVYCTT EKYNVMEHRH NDMHYECMTP
110 120 130 140 150
CQVTSDSDKE KTIAFLLKEL DILRTSNKKL QQKLAKEDKE QRKLKFKLEL
160 170 180 190 200
QEKETEAKIA EKTAALVEEV YFAQKERDEA VMSRLQLAIE ERDEAIARAK
210 220 230 240 250
HMEMSLKVLE NINPEENDMT LQELLNRINN ADTGIAIQKN GAIIVDRIYK
260 270 280 290 300
TKECKMRITA EEMSALIEER DAALSKCKRL EQELHHVKEQ NQTSANNMRH
310 320 330 340 350
LTAENNQERA LKAKLLSMQQ ARETAVQQYK KLEEEIQTLR VYYSLHKSLS
360 370 380 390 400
QEENLKDQFN YTLSTYEEAL KNRENIVSIT QQQNEELATQ LQQALTERAN
410 420 430 440
MELQLQHARE ASQVANEKVQ KLERLVDVLR KKVGTGTMRT VI
Length:442
Mass (Da):51,537
Last modified:June 1, 2002 - v1
Checksum:i07A0E8B4359AD0A1
GO
Isoform 2 (identifier: Q8TD10-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-181: Missing.

Show »
Length:261
Mass (Da):30,274
Checksum:i2B38D6382FBA9F60
GO
Isoform 3 (identifier: Q8TD10-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     165-169: ALVEE → ERRGV
     170-442: Missing.

Note: May be due to a competing acceptor splice site. No experimental confirmation available.
Show »
Length:169
Mass (Da):19,900
Checksum:i4D109896DFBBE971
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_034095141Q → L.Corresponds to variant rs35870036dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0094601 – 181Missing in isoform 2. 1 PublicationAdd BLAST181
Alternative sequenceiVSP_009461165 – 169ALVEE → ERRGV in isoform 3. Curated5
Alternative sequenceiVSP_009462170 – 442Missing in isoform 3. CuratedAdd BLAST273

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY059470 mRNA. Translation: AAL27798.1.
BX537396 mRNA. Translation: CAD97638.1.
BX537870 mRNA. Translation: CAD97872.1.
CH471078 Genomic DNA. Translation: EAW65848.1.
CH471078 Genomic DNA. Translation: EAW65850.1.
BC035870 mRNA. Translation: AAH35870.1.
CCDSiCCDS9664.1. [Q8TD10-1]
RefSeqiNP_001182225.1. NM_001195296.1. [Q8TD10-1]
NP_001182226.1. NM_001195297.1. [Q8TD10-1]
NP_620059.1. NM_138731.6. [Q8TD10-1]
XP_016876492.1. XM_017021003.1. [Q8TD10-1]
XP_016876493.1. XM_017021004.1. [Q8TD10-1]
XP_016876494.1. XM_017021005.1. [Q8TD10-1]
UniGeneiHs.660396.

Genome annotation databases

EnsembliENST00000327441; ENSP00000333539; ENSG00000151338. [Q8TD10-1]
ENST00000396294; ENSP00000379589; ENSG00000151338. [Q8TD10-1]
ENST00000537471; ENSP00000444254; ENSG00000151338. [Q8TD10-1]
GeneIDi145282.
KEGGihsa:145282.
UCSCiuc001wuc.4. human. [Q8TD10-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY059470 mRNA. Translation: AAL27798.1.
BX537396 mRNA. Translation: CAD97638.1.
BX537870 mRNA. Translation: CAD97872.1.
CH471078 Genomic DNA. Translation: EAW65848.1.
CH471078 Genomic DNA. Translation: EAW65850.1.
BC035870 mRNA. Translation: AAH35870.1.
CCDSiCCDS9664.1. [Q8TD10-1]
RefSeqiNP_001182225.1. NM_001195296.1. [Q8TD10-1]
NP_001182226.1. NM_001195297.1. [Q8TD10-1]
NP_620059.1. NM_138731.6. [Q8TD10-1]
XP_016876492.1. XM_017021003.1. [Q8TD10-1]
XP_016876493.1. XM_017021004.1. [Q8TD10-1]
XP_016876494.1. XM_017021005.1. [Q8TD10-1]
UniGeneiHs.660396.

3D structure databases

ProteinModelPortaliQ8TD10.
SMRiQ8TD10.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126903. 42 interactors.
IntActiQ8TD10. 68 interactors.
STRINGi9606.ENSP00000333539.

PTM databases

iPTMnetiQ8TD10.
PhosphoSitePlusiQ8TD10.
SwissPalmiQ8TD10.

Polymorphism and mutation databases

BioMutaiMIPOL1.
DMDMi44888154.

Proteomic databases

EPDiQ8TD10.
MaxQBiQ8TD10.
PaxDbiQ8TD10.
PeptideAtlasiQ8TD10.
PRIDEiQ8TD10.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000327441; ENSP00000333539; ENSG00000151338. [Q8TD10-1]
ENST00000396294; ENSP00000379589; ENSG00000151338. [Q8TD10-1]
ENST00000537471; ENSP00000444254; ENSG00000151338. [Q8TD10-1]
GeneIDi145282.
KEGGihsa:145282.
UCSCiuc001wuc.4. human. [Q8TD10-1]

Organism-specific databases

CTDi145282.
DisGeNETi145282.
GeneCardsiMIPOL1.
HGNCiHGNC:21460. MIPOL1.
HPAiHPA002893.
MIMi606850. gene.
neXtProtiNX_Q8TD10.
OpenTargetsiENSG00000151338.
PharmGKBiPA134883770.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IMI8. Eukaryota.
ENOG4111VBM. LUCA.
GeneTreeiENSGT00390000017800.
HOGENOMiHOG000113592.
HOVERGENiHBG052477.
InParanoidiQ8TD10.
OMAiEQRKLKF.
OrthoDBiEOG091G0ANZ.
PhylomeDBiQ8TD10.
TreeFamiTF331912.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000151338-MONOMER.

Miscellaneous databases

ChiTaRSiMIPOL1. human.
GenomeRNAii145282.
PROiQ8TD10.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000151338.
CleanExiHS_MIPOL1.
ExpressionAtlasiQ8TD10. baseline and differential.
GenevisibleiQ8TD10. HS.

Family and domain databases

InterProiIPR026175. MIPOL1.
[Graphical view]
PANTHERiPTHR22089. PTHR22089. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiMIPO1_HUMAN
AccessioniPrimary (citable) accession number: Q8TD10
Secondary accession number(s): D3DSA4, Q7Z3J0, Q8IV14
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: June 1, 2002
Last modified: November 30, 2016
This is version 106 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.