MIPO1_HUMAN
ID MIPO1_HUMAN Reviewed; 442 AA.
AC Q8TD10; D3DSA4; Q7Z3J0; Q8IV14;
DT 01-MAR-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2002, sequence version 1.
DT 03-AUG-2022, entry version 143.
DE RecName: Full=Mirror-image polydactyly gene 1 protein;
GN Name=MIPOL1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, AND INVOLVEMENT
RP IN MIP.
RC TISSUE=Fetal brain, and Skeletal muscle;
RX PubMed=11954550; DOI=10.1007/s100380200015;
RA Kondoh S., Sugawara H., Harada N., Matsumoto N., Ohashi H., Sato M.,
RA Kantaputra P.N., Ogino T., Tomita H., Ohta T., Kishino T., Fukushima Y.,
RA Niikawa N., Yoshiura K.;
RT "A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient
RT with mirror-image polydactyly of hands and feet.";
RL J. Hum. Genet. 47:136-139(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND PARTIAL NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Fetal kidney, and Heart;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Fetal brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- INTERACTION:
CC Q8TD10; Q86SG2: ANKRD23; NbExp=3; IntAct=EBI-2548751, EBI-5661893;
CC Q8TD10; P48047: ATP5PO; NbExp=3; IntAct=EBI-2548751, EBI-355815;
CC Q8TD10; Q9BXY8: BEX2; NbExp=3; IntAct=EBI-2548751, EBI-745073;
CC Q8TD10; Q13895: BYSL; NbExp=8; IntAct=EBI-2548751, EBI-358049;
CC Q8TD10; Q9NX04: C1orf109; NbExp=3; IntAct=EBI-2548751, EBI-8643161;
CC Q8TD10; Q53TS8: C2CD6; NbExp=3; IntAct=EBI-2548751, EBI-739879;
CC Q8TD10; Q96HB5: CCDC120; NbExp=6; IntAct=EBI-2548751, EBI-744556;
CC Q8TD10; Q8IYE0: CCDC146; NbExp=3; IntAct=EBI-2548751, EBI-10749669;
CC Q8TD10; P49368: CCT3; NbExp=6; IntAct=EBI-2548751, EBI-356673;
CC Q8TD10; Q16543: CDC37; NbExp=3; IntAct=EBI-2548751, EBI-295634;
CC Q8TD10; Q07002: CDK18; NbExp=3; IntAct=EBI-2548751, EBI-746238;
CC Q8TD10; P61024: CKS1B; NbExp=3; IntAct=EBI-2548751, EBI-456371;
CC Q8TD10; Q9UER7: DAXX; NbExp=3; IntAct=EBI-2548751, EBI-77321;
CC Q8TD10; Q96JC9: EAF1; NbExp=3; IntAct=EBI-2548751, EBI-769261;
CC Q8TD10; O60573: EIF4E2; NbExp=3; IntAct=EBI-2548751, EBI-398610;
CC Q8TD10; Q9H0I2: ENKD1; NbExp=6; IntAct=EBI-2548751, EBI-744099;
CC Q8TD10; Q8IYI6: EXOC8; NbExp=3; IntAct=EBI-2548751, EBI-742102;
CC Q8TD10; Q9H5Z6-2: FAM124B; NbExp=3; IntAct=EBI-2548751, EBI-11986315;
CC Q8TD10; Q3B820: FAM161A; NbExp=6; IntAct=EBI-2548751, EBI-719941;
CC Q8TD10; Q96MY7: FAM161B; NbExp=3; IntAct=EBI-2548751, EBI-7225287;
CC Q8TD10; Q86YD7: FAM90A1; NbExp=3; IntAct=EBI-2548751, EBI-6658203;
CC Q8TD10; Q8TES7-6: FBF1; NbExp=3; IntAct=EBI-2548751, EBI-10244131;
CC Q8TD10; Q8TAE8: GADD45GIP1; NbExp=3; IntAct=EBI-2548751, EBI-372506;
CC Q8TD10; P55040: GEM; NbExp=3; IntAct=EBI-2548751, EBI-744104;
CC Q8TD10; Q96CS2: HAUS1; NbExp=3; IntAct=EBI-2548751, EBI-2514791;
CC Q8TD10; Q9UKT9: IKZF3; NbExp=3; IntAct=EBI-2548751, EBI-747204;
CC Q8TD10; Q8NAX2: KDF1; NbExp=3; IntAct=EBI-2548751, EBI-11997992;
CC Q8TD10; Q86T90: KIAA1328; NbExp=3; IntAct=EBI-2548751, EBI-3437878;
CC Q8TD10; Q9HAQ2: KIF9; NbExp=3; IntAct=EBI-2548751, EBI-8472129;
CC Q8TD10; Q14657: LAGE3; NbExp=3; IntAct=EBI-2548751, EBI-1052105;
CC Q8TD10; Q96BZ8: LENG1; NbExp=3; IntAct=EBI-2548751, EBI-726510;
CC Q8TD10; P43360: MAGEA6; NbExp=6; IntAct=EBI-2548751, EBI-1045155;
CC Q8TD10; O95983-2: MBD3; NbExp=3; IntAct=EBI-2548751, EBI-11978579;
CC Q8TD10; P33993: MCM7; NbExp=3; IntAct=EBI-2548751, EBI-355924;
CC Q8TD10; P55081: MFAP1; NbExp=3; IntAct=EBI-2548751, EBI-1048159;
CC Q8TD10; Q8TD10: MIPOL1; NbExp=4; IntAct=EBI-2548751, EBI-2548751;
CC Q8TD10; Q9BU76: MMTAG2; NbExp=3; IntAct=EBI-2548751, EBI-742459;
CC Q8TD10; P00540: MOS; NbExp=3; IntAct=EBI-2548751, EBI-1757866;
CC Q8TD10; Q8WY64: MYLIP; NbExp=3; IntAct=EBI-2548751, EBI-6952711;
CC Q8TD10; O76041: NEBL; NbExp=3; IntAct=EBI-2548751, EBI-2880203;
CC Q8TD10; Q96HA8: NTAQ1; NbExp=3; IntAct=EBI-2548751, EBI-741158;
CC Q8TD10; P26367: PAX6; NbExp=3; IntAct=EBI-2548751, EBI-747278;
CC Q8TD10; Q9BYU1: PBX4; NbExp=3; IntAct=EBI-2548751, EBI-10302990;
CC Q8TD10; Q16512: PKN1; NbExp=3; IntAct=EBI-2548751, EBI-602382;
CC Q8TD10; Q96KQ4: PPP1R13B; NbExp=3; IntAct=EBI-2548751, EBI-1105153;
CC Q8TD10; Q8WWY3: PRPF31; NbExp=6; IntAct=EBI-2548751, EBI-1567797;
CC Q8TD10; Q96IZ5: RBM41; NbExp=3; IntAct=EBI-2548751, EBI-740773;
CC Q8TD10; Q9P2K3: RCOR3; NbExp=3; IntAct=EBI-2548751, EBI-743428;
CC Q8TD10; Q04864-2: REL; NbExp=3; IntAct=EBI-2548751, EBI-10829018;
CC Q8TD10; A0A0S2Z4G9: RNF6; NbExp=3; IntAct=EBI-2548751, EBI-16428950;
CC Q8TD10; Q14D33: RTP5; NbExp=3; IntAct=EBI-2548751, EBI-10217913;
CC Q8TD10; Q9BWG6: SCNM1; NbExp=6; IntAct=EBI-2548751, EBI-748391;
CC Q8TD10; Q969G3: SMARCE1; NbExp=6; IntAct=EBI-2548751, EBI-455078;
CC Q8TD10; O60641-3: SNAP91; NbExp=3; IntAct=EBI-2548751, EBI-12854506;
CC Q8TD10; Q9NY99-2: SNTG2; NbExp=3; IntAct=EBI-2548751, EBI-18173613;
CC Q8TD10; Q6ZRS2-3: SRCAP; NbExp=3; IntAct=EBI-2548751, EBI-12029182;
CC Q8TD10; Q99909: SSX3; NbExp=7; IntAct=EBI-2548751, EBI-10295431;
CC Q8TD10; Q9NZ72: STMN3; NbExp=3; IntAct=EBI-2548751, EBI-725557;
CC Q8TD10; Q9P0N9: TBC1D7; NbExp=3; IntAct=EBI-2548751, EBI-3258000;
CC Q8TD10; Q9BT92: TCHP; NbExp=3; IntAct=EBI-2548751, EBI-740781;
CC Q8TD10; Q8WW01: TSEN15; NbExp=3; IntAct=EBI-2548751, EBI-372432;
CC Q8TD10; Q3SY00: TSGA10IP; NbExp=3; IntAct=EBI-2548751, EBI-10241197;
CC Q8TD10; Q9H892-2: TTC12; NbExp=6; IntAct=EBI-2548751, EBI-10274410;
CC Q8TD10; Q5W5X9-3: TTC23; NbExp=3; IntAct=EBI-2548751, EBI-9090990;
CC Q8TD10; Q99757: TXN2; NbExp=3; IntAct=EBI-2548751, EBI-2932492;
CC Q8TD10; Q7KZS0: UBE2I; NbExp=3; IntAct=EBI-2548751, EBI-10180829;
CC Q8TD10; P61086: UBE2K; NbExp=6; IntAct=EBI-2548751, EBI-473850;
CC Q8TD10; Q9Y6N9: USH1C; NbExp=3; IntAct=EBI-2548751, EBI-954308;
CC Q8TD10; Q68CQ4: UTP25; NbExp=4; IntAct=EBI-2548751, EBI-747711;
CC Q8TD10; Q8N5A5: ZGPAT; NbExp=3; IntAct=EBI-2548751, EBI-3439227;
CC Q8TD10; Q8N5A5-2: ZGPAT; NbExp=6; IntAct=EBI-2548751, EBI-10183064;
CC Q8TD10; A0A0S2Z5X4: ZNF688; NbExp=3; IntAct=EBI-2548751, EBI-16429014;
CC Q8TD10; Q6ZN96; NbExp=3; IntAct=EBI-2548751, EBI-10255097;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8TD10-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8TD10-2; Sequence=VSP_009460;
CC Name=3;
CC IsoId=Q8TD10-3; Sequence=VSP_009461, VSP_009462;
CC -!- TISSUE SPECIFICITY: Expressed very weakly in heart, liver, skeletal
CC muscle, kidney, pancreas and fetal kidney. Not detected in brain,
CC placenta and lung. {ECO:0000269|PubMed:11954550}.
CC -!- DISEASE: Note=A chromosomal aberration involving MIPOL1 is found in a
CC patient with mirror-image polydactyly of hands and feet without other
CC anomalies (MIP). Translocation t(2;14)(p23.3;q13). MIP is a very rare
CC congenital anomaly characterized by mirror-image duplication of digits.
CC MIP is occasionally associated with dimelia of the ulna and fibula,
CC tibial and/or fibular hypoplasia, nasal abnormality and other
CC malformations. Most MIP cases are sporadic, but very rare parent-child
CC transmissions observed in familial cases suggest an autosomal mode of
CC inheritance. {ECO:0000269|PubMed:11954550}.
CC -!- MISCELLANEOUS: [Isoform 3]: May be due to a competing acceptor splice
CC site. {ECO:0000305}.
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DR EMBL; AY059470; AAL27798.1; -; mRNA.
DR EMBL; BX537396; CAD97638.1; -; mRNA.
DR EMBL; BX537870; CAD97872.1; -; mRNA.
DR EMBL; CH471078; EAW65848.1; -; Genomic_DNA.
DR EMBL; CH471078; EAW65850.1; -; Genomic_DNA.
DR EMBL; BC035870; AAH35870.1; -; mRNA.
DR CCDS; CCDS9664.1; -. [Q8TD10-1]
DR RefSeq; NP_001182225.1; NM_001195296.1. [Q8TD10-1]
DR RefSeq; NP_001182226.1; NM_001195297.1. [Q8TD10-1]
DR RefSeq; NP_620059.1; NM_138731.6. [Q8TD10-1]
DR RefSeq; XP_016876492.1; XM_017021003.1. [Q8TD10-1]
DR RefSeq; XP_016876493.1; XM_017021004.1. [Q8TD10-1]
DR RefSeq; XP_016876494.1; XM_017021005.1. [Q8TD10-1]
DR AlphaFoldDB; Q8TD10; -.
DR SMR; Q8TD10; -.
DR BioGRID; 126903; 98.
DR IntAct; Q8TD10; 92.
DR MINT; Q8TD10; -.
DR STRING; 9606.ENSP00000333539; -.
DR iPTMnet; Q8TD10; -.
DR PhosphoSitePlus; Q8TD10; -.
DR SwissPalm; Q8TD10; -.
DR BioMuta; MIPOL1; -.
DR DMDM; 44888154; -.
DR EPD; Q8TD10; -.
DR MassIVE; Q8TD10; -.
DR MaxQB; Q8TD10; -.
DR PaxDb; Q8TD10; -.
DR PeptideAtlas; Q8TD10; -.
DR PRIDE; Q8TD10; -.
DR ProteomicsDB; 74212; -. [Q8TD10-1]
DR ProteomicsDB; 74213; -. [Q8TD10-2]
DR ProteomicsDB; 74214; -. [Q8TD10-3]
DR Antibodypedia; 137; 130 antibodies from 20 providers.
DR DNASU; 145282; -.
DR Ensembl; ENST00000327441.11; ENSP00000333539.7; ENSG00000151338.19. [Q8TD10-1]
DR Ensembl; ENST00000396294.6; ENSP00000379589.2; ENSG00000151338.19. [Q8TD10-1]
DR Ensembl; ENST00000537471.5; ENSP00000444254.1; ENSG00000151338.19. [Q8TD10-1]
DR Ensembl; ENST00000684589.1; ENSP00000506738.1; ENSG00000151338.19. [Q8TD10-1]
DR GeneID; 145282; -.
DR KEGG; hsa:145282; -.
DR MANE-Select; ENST00000684589.1; ENSP00000506738.1; NM_001388067.1; NP_001374996.1.
DR UCSC; uc001wuc.4; human. [Q8TD10-1]
DR CTD; 145282; -.
DR DisGeNET; 145282; -.
DR GeneCards; MIPOL1; -.
DR HGNC; HGNC:21460; MIPOL1.
DR HPA; ENSG00000151338; Low tissue specificity.
DR MIM; 606850; gene.
DR neXtProt; NX_Q8TD10; -.
DR OpenTargets; ENSG00000151338; -.
DR PharmGKB; PA134883770; -.
DR VEuPathDB; HostDB:ENSG00000151338; -.
DR eggNOG; ENOG502QS3V; Eukaryota.
DR GeneTree; ENSGT00390000017800; -.
DR InParanoid; Q8TD10; -.
DR OMA; IMEHRSN; -.
DR OrthoDB; 884364at2759; -.
DR PhylomeDB; Q8TD10; -.
DR TreeFam; TF331912; -.
DR PathwayCommons; Q8TD10; -.
DR SignaLink; Q8TD10; -.
DR SIGNOR; Q8TD10; -.
DR BioGRID-ORCS; 145282; 17 hits in 1085 CRISPR screens.
DR ChiTaRS; MIPOL1; human.
DR GenomeRNAi; 145282; -.
DR Pharos; Q8TD10; Tbio.
DR PRO; PR:Q8TD10; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q8TD10; protein.
DR Bgee; ENSG00000151338; Expressed in calcaneal tendon and 114 other tissues.
DR ExpressionAtlas; Q8TD10; baseline and differential.
DR Genevisible; Q8TD10; HS.
DR GO; GO:0005634; C:nucleus; IDA:MGI.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR InterPro; IPR026175; MIPOL1.
DR PANTHER; PTHR22089; PTHR22089; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Chromosomal rearrangement; Coiled coil;
KW Reference proteome.
FT CHAIN 1..442
FT /note="Mirror-image polydactyly gene 1 protein"
FT /id="PRO_0000096490"
FT REGION 1..39
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 107..212
FT /evidence="ECO:0000255"
FT COILED 253..435
FT /evidence="ECO:0000255"
FT COMPBIAS 10..32
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..181
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_009460"
FT VAR_SEQ 165..169
FT /note="ALVEE -> ERRGV (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_009461"
FT VAR_SEQ 170..442
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_009462"
FT VARIANT 141
FT /note="Q -> L (in dbSNP:rs35870036)"
FT /id="VAR_034095"
SQ SEQUENCE 442 AA; 51537 MW; 07A0E8B4359AD0A1 CRC64;
MENWSKDITH SYLEQETTGI NKSTQPDEQL TMNSEKSMHR KSTELVNEIT CENTEWPGQR
STNFQIISSY PDDESVYCTT EKYNVMEHRH NDMHYECMTP CQVTSDSDKE KTIAFLLKEL
DILRTSNKKL QQKLAKEDKE QRKLKFKLEL QEKETEAKIA EKTAALVEEV YFAQKERDEA
VMSRLQLAIE ERDEAIARAK HMEMSLKVLE NINPEENDMT LQELLNRINN ADTGIAIQKN
GAIIVDRIYK TKECKMRITA EEMSALIEER DAALSKCKRL EQELHHVKEQ NQTSANNMRH
LTAENNQERA LKAKLLSMQQ ARETAVQQYK KLEEEIQTLR VYYSLHKSLS QEENLKDQFN
YTLSTYEEAL KNRENIVSIT QQQNEELATQ LQQALTERAN MELQLQHARE ASQVANEKVQ
KLERLVDVLR KKVGTGTMRT VI
