Gene: Dzip1l

Basic information

Tag Content
Uniprot ID Q499E4; Q8BZI8; Q8C182; Q9CSR1;
Entrez ID 72507
Genbank protein ID BAC26121.1; BAC28732.1; BAB28052.1; AAH99950.1;
Genbank nucleotide ID NM_028258.4; XM_006511474.3; XM_006511475.3; NM_001311142.1; XM_006511476.3;
Ensembl protein ID ENSMUSP00000077475; ENSMUSP00000108506; ENSMUSP00000108505; ENSMUSP00000108507;
Ensembl nucleotide ID ENSMUSG00000037784
Gene name Zinc finger protein DZIP1L
Gene symbol Dzip1l
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO,CLP
Developmental stage
Data sources Manually collected
Reference 28530676
Functional description Involved in primary cilium formation (PubMed:28530676). Probably acts as a transition zone protein required for localization of PKD1/PC1 and PKD2/PC2 to the ciliary membrane (By similarity).
Sequence
MQYPAATAEG LSGPLSGAYT LPAFKFQPRR ESIDWRRISA VDVDRVAREL DVATLQENIA 60
GVTFCNLDGE VCNHCRQPVD PVLLKVLRLA QLIIEYLLHC QDCLSASVAQ LEARLQASLG 120
QQQRGQQELG RQADELKGVR EESRRRRKMI STLQQLLLQT SAHSYHTCHL CDKTFMNATF 180
LRGHIQRRHA GMADVGKQKQ EQPLGEVLEE LRAKLKWTQG ELEAQREAER QRQVQELEMA 240
RQREMEAKKK FDEWKEKERS KLYGEIDKLK QLFWDEFKTV ANQNSTLEEK LKALQSYSMT 300
ESHLGSLRDE ESEERLKHAQ EVQALQEKME VQKTEWKRKM KALHEERAAE RRQLQEENER 360
LHVSLSQDQK KAAAQSQRHI NALRAQLQEQ ARLIESQEET IQTLSLRKVE EVQEMPKAVA 420
TEEDSSEEEL EASLEERQEQ RKVLAALRKN PTWLKQFRPI LEDTLEEKLE GLGIKRDTKG 480
ISAQTVRRLE PLLRTQREQI ARSFREFPSL REKLNKEVSS RVKQRWESTT QPDGQPPVKS 540
QRVTLATREV RPKTRTLTVA LPSKPAEPST PTLQGHSSHG PGLTQVSTPI PRPRVHGPSS 600
TPVSPGSGLS STPPFSSEEE PEGDVVQRVS LQPPKVLPRS AAKPEDNWGW SDSETSEESA 660
QPPGKGSGGL ASSGTLVQSI VKNLEKQLET PAKKPSGGVN MFLRPNAALQ RASTPARKSQ 720
LSEDESDVEI SSLEDLSQDL GQKGKPKPLS HSKLPEKFDV SPWSSGSRPR IPGW 774

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.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologDZIP1LA0A452ERJ9Capra hircusPredictionMore>>
1:1 orthologDZIP1L199221Q8IYY4Homo sapiensPredictionMore>>
1:1 orthologDzip1l72507Q499E4CPO,CLPMus musculusPublicationMore>>
1:1 orthologDZIP1LA0A2I3RUU2Pan troglodytesPredictionMore>>
1:1 orthologDZIP1LA0A287B413Sus scrofaPredictionMore>>
1:1 orthologDZIP1L100352428G1SKV1Oryctolagus cuniculusPredictionMore>>
1:1 orthologDzip1l315952Q5XIA0Rattus norvegicusPredictionMore>>
1:1 orthologdzip1lX1WEH0Danio rerioPredictionMore>>

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0003676 nucleic acid bindingIEA
GO:0005515 protein bindingIPI
GO:0046872 metal ion bindingIEA

GO:Biological Process

GO ID GO Term Evidence
GO:0007224 smoothened signaling pathwayIMP
GO:0021532 neural tube patterningIGI
GO:0032880 regulation of protein localizationISS
GO:0032880 regulation of protein localizationISO
GO:0033365 protein localization to organelleIMP
GO:0033504 floor plate developmentIGI
GO:0060271 cilium assemblyISS
GO:0060271 cilium assemblyISO
GO:0060271 cilium assemblyIBA
GO:0060271 cilium assemblyIGI
GO:0060271 cilium assemblyIMP
GO:0061512 protein localization to ciliumIMP
GO:1905349 ciliary transition zone assemblyIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0005814 centrioleISS
GO:0005814 centrioleISO
GO:0005814 centrioleIDA
GO:0005930 axonemeIDA
GO:0036064 ciliary basal bodyISS
GO:0036064 ciliary basal bodyISO
GO:0036064 ciliary basal bodyIBA
GO:0036064 ciliary basal bodyIDA

Reactome Pathway

Reactome ID Reactome Term Evidence

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0025 Alternative splicing
KW-0966 Cell projection
KW-0969 Cilium
KW-0175 Coiled coil
KW-0963 Cytoplasm
KW-0206 Cytoskeleton
KW-0479 Metal-binding
KW-0597 Phosphoprotein
KW-1185 Reference proteome
KW-0862 Zinc
KW-0863 Zinc-finger

Interpro

InterPro ID InterPro Term
IPR032714 DZIP1_N
IPR013087 Znf_C2H2_type

PROSITE

PROSITE ID PROSITE Term
PS00028 ZINC_FINGER_C2H2_1
PS50157 ZINC_FINGER_C2H2_2

Pfam

Pfam ID Pfam Term
PF13815 Dzip-like_N

Protein-protein interaction

Protein-miRNA interaction