MIPOL1
entrez
145282
canonical
uniprot
Q8TD10
canonical
ensembl
ENSG00000151338
resolver
ensp
ENSP00000333539
resolver
ensp
ENSP00000379589
resolver
ensp
ENSP00000438319
resolver
ensp
ENSP00000506738
resolver
ensp
ENSP00000511967
resolver
ensp
ENSP00000579380
resolver
ensp
ENSP00000579386
resolver
ensp
ENSP00000579387
resolver
ensp
ENSP00000579389
resolver
ensp
ENSP00000681111
resolver
enst
ENST00000539062
resolver
enst
ENST00000694964
resolver
genesymbol
MIPOL1
resolver
hgnc
HGNC:21460
resolver
uniprot
A0A8Q3SHY7
resolver
uniprot
A8K735
resolver
uniprot
D3DSA4
resolver
uniprot
G5EA54
resolver
uniprot
Q4G0U7
resolver
uniprot
Q7Z3J0
resolver
uniprot
Q8IV14
resolver
uniprot_entry
A0A8Q3SHY7_HUMAN
resolver
uniprot_entry
A8K735_HUMAN
resolver
uniprot_entry
G5EA54_HUMAN
resolver
uniprot_entry
MIPO1_HUMAN
resolver
uniprot_entry
Q4G0U7_HUMAN
resolver
uniprot_sec
D3DSA4
resolver
uniprot_sec
Q7Z3J0
resolver
uniprot_sec
Q8IV14
resolver
amino_acid_sequence
MENWSKDITHSYLEQETTGINKSTQPDEQLTMNSEKSMHRKSTELVNEITCENTEWPGQRSTNFQIISSYPDDESVYCTTEKYNVMEHRHNDMHYECMTPCQVTSDSDKEKTIAFLLKELDILRTSNKKLQQKLAKEDKEQRKLKFKLELQEKETEAKIAEKTAALVEEVYFAQKERDEAVMSRLQLAIEERDEAIARAKHMEMSLKVLENINPEENDMTLQELLNRINNADTGIAIQKNGAIIVDRIYKTKECKMRITAEEMSALIEERDAALSKCKRLEQELHHVKEQNQTSANNMRHLTAENNQERALKAKLLSMQQARETAVQQYKKLEEEIQTLRVYYSLHKSLSQEENLKDQFNYTLSTYEEALKNRENIVSITQQQNEELATQLQQALTERANMELQLQHAREASQVANEKVQKLERLVDVLRKKVGTGTMRTVI
uniprot
proteins
disease_involvement
DISEASE: Note=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. {ECO:0000269|PubMed:11954550}.
uniprot
proteins
mass_dalton
51537
uniprot
proteins
pubmed
11954550
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
sequence_length
442
uniprot
proteins