• Gene id: 374654

Gene Summary

• Gene Symbol: KIF7   Gene   UCSC   Ensembl
• Aliases: ACLS, AGBK, HLS2, JBTS12, UNQ340
• Gene name: kinesin family member 7
• Alternate names: kinesin-like protein KIF7, EQYK340,
• Gene location: 15q26.1 (89663085: 89627976)     Exons: 20     NC_000015.10
• Gene summary(Entrez): This gene encodes a cilia-associated protein belonging to the kinesin family. This protein plays a role in the sonic hedgehog (SHH) signaling pathway through the regulation of GLI transcription factors. It functions as a negative regulator of the SHH path
• OMIM: 609969

Protein Summary

• Protein general information: Q2M1P5  
  • Name: Kinesin like protein KIF7
  • Length: 1343  
  • Mass: 150587
  • Tissue specificity: Embryonic stem cells, melanotic melanoma and Jurkat T-cells. Expressed in heart, lung, liver, kidney, testis, retina, placenta, pancreas, colon, small intestin, prostate and thymus. {ECO
• Sequence:

  MGLEAQRLPGAEEAPVRVALRVRPLLPKELLHGHQSCLQVEPGLGRVTLGRDRHFGFHVVLAEDAGQEAVYQACV
  QPLLEAFFEGFNATVFAYGQTGSGKTYTMGEASVASLLEDEQGIVPRAMAEAFKLIDENDLLDCLVHVSYLEVYK
  EEFRDLLEVGTASRDIQLREDERGNVVLCGVKEVDVEGLDEVLSLLEMGNAARHTGATHLNHLSSRSHTVFTVTL
  EQRGRAPSRLPRPAPGQLLVSKFHFVDLAGSERVLKTGSTGERLKESIQINSSLLALGNVISALGDPQRRGSHIP
  YRDSKITRILKDSLGGNAKTVMIACVSPSSSDFDETLNTLNYASRAQNIRNRATVNWRPEAERPPEETASGARGP
  PRHRSETRIIHRGRRAPGPATASAAAAMRLGAECARYRACTDAAYSLLRELQAEPGLPGAAARKVRDWLCAVEGE
  RSALSSASGPDSGIESASVEDQAAQGAGGRKEDEGAQQLLTLQNQVARLEEENRDFLAALEDAMEQYKLQSDRLR
  EQQEEMVELRLRLELVRPGWGGPRLLNGLPPGSFVPRPHTAPLGGAHAHVLGMVPPACLPGDEVGSEQRGEQVTN
  GREAGAELLTEVNRLGSGSSAASEEEEEEEEPPRRTLHLRRNRISNCSQRAGARPGSLPERKGPELCLEELDAAI
  PGSRAVGGSKARVQARQVPPATASEWRLAQAQQKIRELAINIRMKEELIGELVRTGKAAQALNRQHSQRIRELEQ
  EAEQVRAELSEGQRQLRELEGKELQDAGERSRLQEFRRRVAAAQSQVQVLKEKKQATERLVSLSAQSEKRLQELE
  RNVQLMRQQQGQLQRRLREETEQKRRLEAEMSKRQHRVKELELKHEQQQKILKIKTEEIAAFQRKRRSGSNGSVV
  SLEQQQKIEEQKKWLDQEMEKVLQQRRALEELGEELHKREAILAKKEALMQEKTGLESKRLRSSQALNEDIVRVS
  SRLEHLEKELSEKSGQLRQGSAQSQQQIRGEIDSLRQEKDSLLKQRLEIDGKLRQGSLLSPEEERTLFQLDEAIE
  ALDAAIEYKNEAITCRQRVLRASASLLSQCEMNLMAKLSYLSSSETRALLCKYFDKVVTLREEQHQQQIAFSELE
  MQLEEQQRLVYWLEVALERQRLEMDRQLTLQQKEHEQNMQLLLQQSRDHLGEGLADSRRQYEARIQALEKELGRY
  MWINQELKQKLGGVNAVGHSRGGEKRSLCSEGRQAPGNEDELHLAPELLWLSPLTEGAPRTREETRDLVHAPLPL
  TWKRSSLCGEEQGSPEELRQREAAEPLVGRVLPVGEAGLPWNFGPLSKPRRELRRASPGMIDVRKNPL

• Structural information:
  • Protein Domains: (15..34-)
    (/note="Kinesin-motor)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00283"-)
  • Interpro: IPR027640  IPR019821  IPR001752  IPR036961  IPR027417  
  • Prosite: PS00411 PS50067
  • PDB: 2XT3 4A14 6MLQ 6MLR
  • PDBsum: 2XT3 4A14 6MLQ 6MLR
  • STRING: ENSP00000377934
• Other Databases: GeneCards:  KIF7  Malacards:  KIF7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005874	microtubule	IBA	cellular component
GO:0016887	ATPase activity	IBA	molecular function
GO:0003777	microtubule motor activity	IBA	molecular function
GO:0005871	kinesin complex	IBA	cellular component
GO:0007018	microtubule-based movement	IBA	biological process
GO:0008017	microtubule binding	IBA	molecular function
GO:0003777	microtubule motor activity	IDA	molecular function
GO:0005929	cilium	IDA	cellular component
GO:0036064	ciliary basal body	ISS	cellular component
GO:0045880	positive regulation of smoothened signaling pathway	ISS	biological process
GO:0045879	negative regulation of smoothened signaling pathway	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003777	microtubule motor activity	IEA	molecular function
GO:0007018	microtubule-based movement	IEA	biological process
GO:0008017	microtubule binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0097542	ciliary tip	TAS	cellular component
GO:0005929	cilium	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05217	Basal cell carcinoma
hsa04340	Hedgehog signaling pathway

Diseases

Associated diseases	References
Joubert syndrome	KEGG:H00530
Hydrolethalus syndrome	KEGG:H01265
Acrocallosal syndrome	KEGG:H00263
Joubert syndrome	KEGG:H00530
Hydrolethalus syndrome	KEGG:H01265
Acrocallosal syndrome	KEGG:H00263
Acrocallosal syndrome	PMID:21552264
Cleft lip	PMID:26602496
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq