| Tag | Content |
|---|---|
| Uniprot ID | Q2M1P5; Q3SXY0; Q6UXE9; Q8IW72; |
| Entrez ID | 374654 |
| Genbank protein ID | AAI12272.1; AAH40878.1; AAI04045.1; AAQ88750.1; AAI12274.1; |
| Genbank nucleotide ID | NM_198525.2 |
| Ensembl protein ID | ENSP00000377934 |
| Ensembl nucleotide ID | ENSG00000166813 |
| Gene name | Kinesin-like protein KIF7 |
| Gene symbol | KIF7 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 26602496 |
| Functional description | Essential for hedgehog signaling regulation: acts as both a negative and positive regulator of sonic hedgehog (Shh) and Indian hedgehog (Ihh) pathways, acting downstream of SMO, through both SUFU-dependent and -independent mechanisms (PubMed:21633164). Involved in the regulation of microtubular dynamics. Required for proper organization of the ciliary tip and control of ciliary localization of SUFU-GLI2 complexes (By similarity). Required for localization of GLI3 to cilia in response to Shh. Negatively regulates Shh signaling by preventing inappropriate activation of the transcriptional activator GLI2 in the absence of ligand. Positively regulates Shh signaling by preventing the processing of the transcription factor GLI3 into its repressor form. In keratinocytes, promotes the dissociation of SUFU-GLI2 complexes, GLI2 nuclear translocation and Shh signaling activation (By similarity). Involved in the regulation of epidermal differentiation and chondrocyte development (By similarity). |
| Sequence | MGLEAQRLPG AEEAPVRVAL RVRPLLPKEL LHGHQSCLQV EPGLGRVTLG RDRHFGFHVV 60 LAEDAGQEAV YQACVQPLLE AFFEGFNATV FAYGQTGSGK TYTMGEASVA SLLEDEQGIV 120 PRAMAEAFKL IDENDLLDCL VHVSYLEVYK EEFRDLLEVG TASRDIQLRE DERGNVVLCG 180 VKEVDVEGLD EVLSLLEMGN AARHTGATHL NHLSSRSHTV FTVTLEQRGR APSRLPRPAP 240 GQLLVSKFHF VDLAGSERVL KTGSTGERLK ESIQINSSLL ALGNVISALG DPQRRGSHIP 300 YRDSKITRIL KDSLGGNAKT VMIACVSPSS SDFDETLNTL NYASRAQNIR NRATVNWRPE 360 AERPPEETAS GARGPPRHRS ETRIIHRGRR APGPATASAA AAMRLGAECA RYRACTDAAY 420 SLLRELQAEP GLPGAAARKV RDWLCAVEGE RSALSSASGP DSGIESASVE DQAAQGAGGR 480 KEDEGAQQLL TLQNQVARLE EENRDFLAAL EDAMEQYKLQ SDRLREQQEE MVELRLRLEL 540 VRPGWGGPRL LNGLPPGSFV PRPHTAPLGG AHAHVLGMVP PACLPGDEVG SEQRGEQVTN 600 GREAGAELLT EVNRLGSGSS AASEEEEEEE EPPRRTLHLR RNRISNCSQR AGARPGSLPE 660 RKGPELCLEE LDAAIPGSRA VGGSKARVQA RQVPPATASE WRLAQAQQKI RELAINIRMK 720 EELIGELVRT GKAAQALNRQ HSQRIRELEQ EAEQVRAELS EGQRQLRELE GKELQDAGER 780 SRLQEFRRRV AAAQSQVQVL KEKKQATERL VSLSAQSEKR LQELERNVQL MRQQQGQLQR 840 RLREETEQKR RLEAEMSKRQ HRVKELELKH EQQQKILKIK TEEIAAFQRK RRSGSNGSVV 900 SLEQQQKIEE QKKWLDQEME KVLQQRRALE ELGEELHKRE AILAKKEALM QEKTGLESKR 960 LRSSQALNED IVRVSSRLEH LEKELSEKSG QLRQGSAQSQ QQIRGEIDSL RQEKDSLLKQ 1020 RLEIDGKLRQ GSLLSPEEER TLFQLDEAIE ALDAAIEYKN EAITCRQRVL RASASLLSQC 1080 EMNLMAKLSY LSSSETRALL CKYFDKVVTL REEQHQQQIA FSELEMQLEE QQRLVYWLEV 1140 ALERQRLEMD RQLTLQQKEH EQNMQLLLQQ SRDHLGEGLA DSRRQYEARI QALEKELGRY 1200 MWINQELKQK LGGVNAVGHS RGGEKRSLCS EGRQAPGNED ELHLAPELLW LSPLTEGAPR 1260 TREETRDLVH APLPLTWKRS SLCGEEQGSP EELRQREAAE PLVGRVLPVG EAGLPWNFGP 1320 LSKPRRELRR ASPGMIDVRK NPL 1343 |
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.