DZIP1L
entrez
199221
canonical
uniprot
Q8IYY4
canonical
ensembl
ENSG00000158163
resolver
ensp
ENSP00000332148
resolver
ensp
ENSP00000419486
resolver
ensp
ENSP00000521734
resolver
ensp
ENSP00000647759
resolver
ensp
ENSP00000779094
resolver
genesymbol
DZIP1L
resolver
hgnc
HGNC:26551
resolver
uniprot
C9JUG5
resolver
uniprot
Q96M38
resolver
uniprot_entry
DZI1L_HUMAN
resolver
uniprot_sec
C9JUG5
resolver
uniprot_sec
Q96M38
resolver
amino_acid_sequence
MQSPAATAEGLSGPLFGAYTFPTFKFQPRHDSMDWRRISTLDVDRVARELDVATLQENIAGITFCNLDREVCSRCGQPVDPALLKVLRLAQLIIEYLLHCQDCLSASVAQLEARLQTSLGQQQRGQQELGRQADELKGVREESRRRRKMISTLQQLLMQTGTHSYHTCHLCDKTFMNATFLRGHIQRRHAGVAEGGKQKKQEQPVEEVLEELRAKLKWTQGELEAQREAERQRQLQEAELIHQREIEAKKEFDKWKEQEWTKLYGEIDKLKKLFWDEFKNVAKQNSTLEEKLRALQSHSVMESKLGSLRDEESEEWLRQARELQALREKTEIQKTEWKRKVKELHEEHMAEKKELQEENQRLQASLSQDQKKAAAQSQCQISTLRAQLQEQARIIASQEEMIQSLSLRKVEGIHKVPKAVDTEEDSPEEEMEDSQDEQHKVLAALRRNPTLLKHFRPILEDTLEEKLESMGIRKDAKGISIQTLRHLESLLRVQREQKARKFSEFLSLRGKLVKEVTSRAKERQENGAVVSQPDGQPSVKSQQSTLVTREAQPKTRTLQVALPSTPAEPPPPTRQSHGSHGSSLTQVSAPAPRPGLHGPSSTPPSSGPGMSTPPFSSEEDSEGDRVQRVSLQPPKVPSRMVPRPKDDWDWSDTETSEENAQPPGQGSGTLVQSMVKNLEKQLEAPAKKPAGGVSLFFMPNAGPQRAATPGRKPQLSEDESDLEISSLEDLPLDLDQREKPKPLSRSKLPEKFGTGPQSSGQPRVPAW
uniprot
proteins
disease_involvement
DISEASE: Polycystic kidney disease 5 (PKD5) [MIM:617610]: A form of polycystic kidney disease, a disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts may also occur in other organs, particularly the liver. PKD5 inheritance is autosomal recessive. {ECO:0000269|PubMed:28530676}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in primary cilium formation (PubMed:19852954, PubMed:28530676). Probably acts as a transition zone protein required for localization of PKD1/PC1 and PKD2/PC2 to the ciliary membrane (PubMed:28530676). {ECO:0000269|PubMed:19852954, ECO:0000269|PubMed:28530676}.
uniprot
proteins
mass_dalton
86848
uniprot
proteins
protein_family
DZIP C2H2-type zinc-finger protein family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
19852954
uniprot
proteins
pubmed
28530676
uniprot
proteins
sequence_length
767
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:19852954, ECO:0000269|PubMed:28530676}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:28530676}. Note=Localizes to centrioles and to the distal ends of basal bodies (PubMed:28530676). {ECO:0000269|PubMed:28530676}.
uniprot
proteins