Gene: DCAF7

Basic information

Tag Content
Uniprot ID P61962; B4E039; D3DU14; O15491; Q9DAE4;
Entrez ID 10238
Genbank protein ID AAC18913.1; BAG64301.1; EAW94305.1; EAW94306.1; AAH01264.1;
Genbank nucleotide ID NM_005828.4
Ensembl protein ID ENSP00000402312; ENSP00000483236; ENSP00000403920;
Ensembl nucleotide ID ENSG00000136485
Gene name DDB1- and CUL4-associated factor 7
Gene symbol DCAF7
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Manually collected
Reference 27033726
Functional description Involved in craniofacial development. Acts upstream of the EDN1 pathway and is required for formation of the upper jaw equivalent, the palatoquadrate. The activity required for EDN1 pathway function differs between the first and second arches (By similarity). Associates with DIAPH1 and controls GLI1 transcriptional activity. Could be involved in normal and disease skin development. May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.
Sequence
MSLHGKRKEI YKYEAPWTVY AMNWSVRPDK RFRLALGSFV EEYNNKVQLV GLDEESSEFI 60
CRNTFDHPYP TTKLMWIPDT KGVYPDLLAT SGDYLRVWRV GETETRLECL LNNNKNSDFC 120
APLTSFDWNE VDPYLLGTSS IDTTCTIWGL ETGQVLGRVN LVSGHVKTQL IAHDKEVYDI 180
AFSRAGGGRD MFASVGADGS VRMFDLRHLE HSTIIYEDPQ HHPLLRLCWN KQDPNYLATM 240
AMDGMEVVIL DVRVPCTPVA RLNNHRACVN GIAWAPHSSC HICTAADDHQ ALIWDIQQMP 300
RAIEDPILAY TAEGEINNVQ WASTQPDWIA ICYNNCLEIL RV 342

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.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

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 orthologDCAF7516678Q32L87Bos taurusPredictionMore>>
1:1 orthologDCAF7100856670E2REP1Canis lupus familiarisPredictionMore>>
1:1 orthologDCAF7102172756A0A452DQT9Capra hircusPredictionMore>>
1:1 orthologDCAF710238P61962Homo sapiensPublicationMore>>
1:1 orthologDcaf771833P61963Mus musculusPredictionMore>>
1:1 orthologDCAF7454780K7B4V7Pan troglodytesPredictionMore>>
1:1 orthologDCAF7100347842G1TAE4Oryctolagus cuniculusPredictionMore>>
1:1 orthologDcaf7303602B2RZ68Rattus norvegicusPredictionMore>>
1:1 orthologdcaf7337565Q7T3E0Danio rerioPredictionMore>>

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0005515 protein bindingIPI

GO:Biological Process

GO ID GO Term Evidence
GO:0007275 multicellular organism developmentIEA
GO:0016567 protein ubiquitinationIEA
GO:0043687 post-translational protein modificationTAS

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusIBA
GO:0005654 nucleoplasmIDA
GO:0005654 nucleoplasmTAS
GO:0005737 cytoplasmTAS
GO:0005829 cytosolIDA
GO:0016363 nuclear matrixIDA
GO:0016604 nuclear bodyIDA
GO:0032991 protein-containing complexIDA
GO:0080008 Cul4-RING E3 ubiquitin ligase complexIDA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-390466 Chaperonin-mediated protein foldingIEA
R-HSA-390471 Association of TriC/CCT with target proteins during biosynthesisIEA
R-HSA-391251 Protein foldingIEA
R-HSA-392499 Metabolism of proteinsTAS
R-HSA-392499 Metabolism of proteinsIEA
R-HSA-597592 Post-translational protein modificationTAS
R-HSA-8951664 NeddylationTAS

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0025 Alternative splicing
KW-0963 Cytoplasm
KW-0217 Developmental protein
KW-0539 Nucleus
KW-1185 Reference proteome
KW-0677 Repeat
KW-0833 Ubl conjugation pathway
KW-0853 WD repeat

Interpro

InterPro ID InterPro Term
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf

PROSITE

PROSITE ID PROSITE Term
PS00678 WD_REPEATS_1
PS50082 WD_REPEATS_2
PS50294 WD_REPEATS_REGION

Pfam

Pfam ID Pfam Term
PF00400 WD40

Protein-protein interaction

Protein-miRNA interaction