| 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.