IQCE
entrez
23288
canonical
uniprot
Q6IPM2
canonical
ensembl
ENSG00000106012
resolver
ensp
ENSP00000313772
resolver
ensp
ENSP00000385597
resolver
ensp
ENSP00000396178
resolver
ensp
ENSP00000480668
resolver
ensp
ENSP00000480715
resolver
ensp
ENSP00000485601
resolver
enst
ENST00000476665
resolver
enst
ENST00000611775
resolver
genesymbol
IQCE
resolver
genesymbol_syn
KIAA1023
resolver
hgnc
HGNC:29171
resolver
uniprot
A0A087WX19
resolver
uniprot
A0A087WX45
resolver
uniprot
B3KRY4
resolver
uniprot
B4DDX4
resolver
uniprot
B4DXN1
resolver
uniprot
Q4G0P7
resolver
uniprot
Q6P7T4
resolver
uniprot
Q9H0H7
resolver
uniprot
Q9UPX7
resolver
uniprot_entry
A0A087WX19_HUMAN
resolver
uniprot_entry
A0A087WX45_HUMAN
resolver
uniprot_entry
B3KRY4_HUMAN
resolver
uniprot_entry
B4DDX4_HUMAN
resolver
uniprot_entry
B4DXN1_HUMAN
resolver
uniprot_entry
IQCE_HUMAN
resolver
uniprot_sec
Q4G0P7
resolver
uniprot_sec
Q6P7T4
resolver
uniprot_sec
Q9H0H7
resolver
uniprot_sec
Q9UPX7
resolver
amino_acid_sequence
MFLGTGEPALDTGDDSLSAVTFDSDVETKAKRKAFHKPPPTSPKSPYLSKPRKVASWRSLRTAGSMPLGGRASLTPQKLWLGTAKPGSLTQALNSPLTWEHAWTGVPGGTPDCLTDTFRVKRPHLRRSASNGHVPGTPVYREKEDMYDEIIELKKSLHVQKSDVDLMRTKLRRLEEENSRKDRQIEQLLDPSRGTDFVRTLAEKRPDASWVINGLKQRILKLEQQCKEKDGTISKLQTDMKTTNLEEMRIAMETYYEEVHRLQTLLASSETTGKKPLGEKKTGAKRQKKMGSALLSLSRSVQELTEENQSLKEDLDRVLSTSPTISKTQGYVEWSKPRLLRRIVELEKKLSVMESSKSHAAEPVRSHPPACLASSSALHRQPRGDRNKDHERLRGAVRDLKEERTALQEQLLQRDLEVKQLLQAKADLEKELECAREGEEERREREEVLREEIQTLTSKLQELQEMKKEEKEDCPEVPHKAQELPAPTPSSRHCEQDWPPDSSEEGLPRPRSPCSDGRRDAAARVLQAQWKVYKHKKKKAVLDEAAVVLQAAFRGHLTRTKLLASKAHGSEPPSVPGLPDQSSPVPRVPSPIAQATGSPVQEEAIVIIQSALRAHLARARHSATGKRTTTAASTRRRSASATHGDASSPPFLAALPDPSPSGPQALAPLPGDDVNSDDSDDIVIAPSLPTKNFPV
uniprot
proteins
disease_involvement
DISEASE: Polydactyly, postaxial, A7 (PAPA7) [MIM:617642]: A form of postaxial polydactyly, a condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well-formed and articulates with the fifth or a sixth metacarpal/metatarsal. PAPA7 is an autosomal recessive condition characterized by postaxial polydactyly restricted to the feet. {ECO:0000269|PubMed:28488682}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling (By similarity). Required for proper limb morphogenesis (PubMed:28488682). {ECO:0000250|UniProtKB:Q6PCQ0, ECO:0000269|PubMed:28488682}.
uniprot
proteins
mass_dalton
77298
uniprot
proteins
pubmed
10470851
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
28488682
uniprot
proteins
sequence_length
695
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium membrane {ECO:0000250|UniProtKB:Q6PCQ0}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q6PCQ0}; Cytoplasmic side {ECO:0000250|UniProtKB:Q6PCQ0}. Note=The EvC complex localizes at the base of cilia in the EvC zone of primary cilia in a EFCAB7-dependent manner. {ECO:0000250|UniProtKB:Q6PCQ0}.
uniprot
proteins