Gene: Kif7

Basic information

Tag Content
Uniprot ID B7ZNG0; B2RUB1;
Entrez ID
Genbank protein ID AAI45223.1; AAI41046.1;
Genbank nucleotide ID
Ensembl protein ID
Ensembl nucleotide ID
Gene name Kinesin-like protein KIF7
Gene symbol Kif7
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage
Data sources Manually collected
Reference 25807483
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. Involved in the regulation of microtubular dynamics. Required for proper organization of the ciliary tip and control of ciliary localization of SUFU-GLI2 complexes. 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. Involved in the regulation of epidermal differentiation and chondrocyte development.
Sequence
MGLEAQRLPG AEEAPVRVAL RVRPLLPKEL LHGHQSCLRV EPERGRITLG RDRHFGFHVV 60
LGEDTGQEAV YQACVQPLLE AFFEGFNATV FAYGQTGSGK TYTMGEASVA SLHEDEQGII 120
PRAMAEAFKL IDENDLLDCL VHVSYLELYK EEFRDLLEVG TASRDIQLRE DDRGNVVLCG 180
VKEVDVEGLD EVLSLLEMGN AARHTGATHF NRLSSRSHTV FTVTLEQRGR TPSRLPRPAA 240
GHLLVSKFHF VDLAGSERVL KTGSTGERLK ESIQINSTLL ALGNVISALG DPQRRGSHIP 300
YRDSKITRIL KDSLGGNAKT VMIACVSPSS SDFDETLNTL NYASRAQNIR NRATVNWHPE 360
AERVPEEQAA GARGPPRHRS ETRIIHRGRR VPCPAVGSAA VAAGLGAECA RCRARTSAAY 420
SLLRELQAEP GLPGAAARKV RDWLCAVEGE RSTLSSASGP DSGIESAPAE DQAAQGTSGR 480
KGDEGTQQLL TLQSQVARLE EENRDFLAAL EDAMEQYKLQ SDRLREQQEE MVELRLRLEL 540
AQPGWGAPGL LQGLPPGSFV PRPHTAPLGG AHTHMLGMMP STCLPGEEVS SEQQVVSGKE 600
VKAEVLAQAD KLRSASSTTS EEEGEEEEEE EEEEEEPPRR TLYLRRNGIS NWSQRAGLSP 660
GSPPDRKGPE VCPEEPAAAI PAPQAVGSGK VPVQTRQAPA AMASEWRLAQ AQQKIRELAI 720
NIRMKEELIG ELVRTGKAAQ ALNRQHSQRI RELEQEAERV RAELCEGQRQ LRELEGREPQ 780
DASERSRLQE FRKRVAAAQS QVQVLKEKKQ ATERLVSLSA QSETRLQELE RNVQLMRRQQ 840
GQLQRRLREE TEQKRRLETE MNKRQHRVKE LELKHEQQQK ILKIKTEEIA AFQRKRRSGS 900
NGSVVSLEQQ QKIEEQKKWL DQEMEKVLQQ RRALEELGEE LRKREVILAK KEALMQEKTG 960
LESKRLRSSQ ALNEDIVRVS SRLEHLEKEL SEKSGQLRQG SAQNQQQIRG EIDTLRQEKD 1020
SLLKQRLEID SKLRQGSLLS PEEERTLFQL DEAIEALDAA IEYKNEAITC RQRVLRASAS 1080
LLSQCEMNLM AKLSYLSSSE TRALLCKYFD KVVTLREEQH QQQIAFSELE MQLEEQQRLV 1140
YWLEVALERQ RLEMDRQLTL QQKEHEQNVQ LLLQQGRDHL GEGLADSKRQ YEARIHALEK 1200
ELGRHMWINQ ELKQKLSAGS TAGQSQGCER RSLCLENRQC LGNEDGLHPA APEPLWQSSL 1260
LEGVSRVWDE SRDLVHAPLP LTWKRSSLCS EQGSSEESRV RETTEPPVGR VLPMGEVGLS 1320
WNFGPLPKPR WEPRRTSPGM IDVRKNPL 1348

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 orthologKIF7102185507A0A452DV85Capra hircusPredictionMore>>
1:1 orthologKIF7374654Q2M1P5Homo sapiensPublicationMore>>
1:1 orthologKif7B7ZNG0CPOMus musculusPublicationMore>>
1:1 orthologKIF7A0A2I3T455Pan troglodytesPredictionMore>>
1:1 orthologKIF7F1SK19Sus scrofaPredictionMore>>
1:1 orthologKif7293047D4A9P0Rattus norvegicusPredictionMore>>
1:1 orthologkif7544651F1QH25Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
KIF7rs4932238*CGenotyping26602496

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0003777 microtubule motor activityISO
GO:0003777 microtubule motor activityIBA
GO:0005515 protein bindingIPI
GO:0005524 ATP bindingIEA
GO:0008017 microtubule bindingIBA
GO:0016887 ATPase activityIBA

GO:Biological Process

GO ID GO Term Evidence
GO:0003279 cardiac septum developmentIMP
GO:0007018 microtubule-based movementIBA
GO:0035904 aorta developmentIMP
GO:0045879 negative regulation of smoothened signaling pathwayIMP
GO:0045880 positive regulation of smoothened signaling pathwayIMP
GO:0060976 coronary vasculature developmentIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0005737 cytoplasmIEA
GO:0005871 kinesin complexIBA
GO:0005874 microtubuleIBA
GO:0005929 ciliumISO
GO:0005929 ciliumIDA
GO:0036064 ciliary basal bodyIDA

Reactome Pathway

Reactome ID Reactome Term Evidence

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0025 Alternative splicing
KW-0067 ATP-binding
KW-0966 Cell projection
KW-0969 Cilium
KW-0175 Coiled coil
KW-0963 Cytoplasm
KW-0206 Cytoskeleton
KW-0505 Motor protein
KW-0547 Nucleotide-binding
KW-0597 Phosphoprotein
KW-1185 Reference proteome
KW-0678 Repressor
KW-0832 Ubl conjugation

Interpro

InterPro ID InterPro Term
IPR027640 Kinesin-like_fam
IPR019821 Kinesin_motor_CS
IPR001752 Kinesin_motor_dom
IPR036961 Kinesin_motor_dom_sf
IPR027417 P-loop_NTPase

PROSITE

PROSITE ID PROSITE Term
PS00411 KINESIN_MOTOR_1
PS50067 KINESIN_MOTOR_2

Pfam

Pfam ID Pfam Term
PF00225 Kinesin