| Tag | Content |
|---|---|
| Uniprot ID | Q8IYY4; C9JUG5; Q96M38; |
| Entrez ID | 199221 |
| Genbank protein ID | BAB71474.1; AAH33308.1; |
| Genbank nucleotide ID | NM_173543.2; NM_001170538.1; |
| Ensembl protein ID | ENSP00000332148; ENSP00000419486; |
| Ensembl nucleotide ID | ENSG00000158163 |
| Gene name | Zinc finger protein DZIP1L |
| Gene symbol | DZIP1L |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | 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). |
| Sequence | MQSPAATAEG LSGPLFGAYT FPTFKFQPRH DSMDWRRIST LDVDRVAREL DVATLQENIA 60 GITFCNLDRE VCSRCGQPVD PALLKVLRLA QLIIEYLLHC QDCLSASVAQ LEARLQTSLG 120 QQQRGQQELG RQADELKGVR EESRRRRKMI STLQQLLMQT GTHSYHTCHL CDKTFMNATF 180 LRGHIQRRHA GVAEGGKQKK QEQPVEEVLE ELRAKLKWTQ GELEAQREAE RQRQLQEAEL 240 IHQREIEAKK EFDKWKEQEW TKLYGEIDKL KKLFWDEFKN VAKQNSTLEE KLRALQSHSV 300 MESKLGSLRD EESEEWLRQA RELQALREKT EIQKTEWKRK VKELHEEHMA EKKELQEENQ 360 RLQASLSQDQ KKAAAQSQCQ ISTLRAQLQE QARIIASQEE MIQSLSLRKV EGIHKVPKAV 420 DTEEDSPEEE MEDSQDEQHK VLAALRRNPT LLKHFRPILE DTLEEKLESM GIRKDAKGIS 480 IQTLRHLESL LRVQREQKAR KFSEFLSLRG KLVKEVTSRA KERQENGAVV SQPDGQPSVK 540 SQQSTLVTRE AQPKTRTLQV ALPSTPAEPP PPTRQSHGSH GSSLTQVSAP APRPGLHGPS 600 STPPSSGPGM STPPFSSEED SEGDRVQRVS LQPPKVPSRM VPRPKDDWDW SDTETSEENA 660 QPPGQGSGTL VQSMVKNLEK QLEAPAKKPA GGVSLFFMPN AGPQRAATPG RKPQLSEDES 720 DLEISSLEDL PLDLDQREKP KPLSRSKLPE KFGTGPQSSG QPRVPAW 767 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.