KIF7

Protein identityUniProt · HPA

UniProt accession

Q2M1P5

Gene

KIF7

Ensembl

ENSG00000166813

Chromosome

15

Canonical length

1343 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoli fibrillar center,Primary cilium,Primary cilium tip,Cytosol

Quaternary structure

Homodimer

OverviewNCBI Gene

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 pathway by preventing inappropriate activation of GLI2 in the absence of ligand, and as a positive regulator by preventing the processing of GLI3 into its repressor form. Mutations in this gene have been associated with various ciliopathies. [provided by RefSeq, Oct 2011]

Canonical amino-acid sequenceUniProt

1343 residues, UniProt reviewed canonical sequence.

>Q2M1P5|KIF7
     1  MGLEAQRLPG AEEAPVRVAL RVRPLLPKEL LHGHQSCLQV EPGLGRVTLG RDRHFGFHVV
    61  LAEDAGQEAV YQACVQPLLE AFFEGFNATV FAYGQTGSGK TYTMGEASVA SLLEDEQGIV
   121  PRAMAEAFKL IDENDLLDCL VHVSYLEVYK EEFRDLLEVG TASRDIQLRE DERGNVVLCG
   181  VKEVDVEGLD EVLSLLEMGN AARHTGATHL NHLSSRSHTV FTVTLEQRGR APSRLPRPAP
   241  GQLLVSKFHF VDLAGSERVL KTGSTGERLK ESIQINSSLL ALGNVISALG DPQRRGSHIP
   301  YRDSKITRIL KDSLGGNAKT VMIACVSPSS SDFDETLNTL NYASRAQNIR NRATVNWRPE
   361  AERPPEETAS GARGPPRHRS ETRIIHRGRR APGPATASAA AAMRLGAECA RYRACTDAAY
   421  SLLRELQAEP GLPGAAARKV RDWLCAVEGE RSALSSASGP DSGIESASVE DQAAQGAGGR
   481  KEDEGAQQLL TLQNQVARLE EENRDFLAAL EDAMEQYKLQ SDRLREQQEE MVELRLRLEL
   541  VRPGWGGPRL LNGLPPGSFV PRPHTAPLGG AHAHVLGMVP PACLPGDEVG SEQRGEQVTN
   601  GREAGAELLT EVNRLGSGSS AASEEEEEEE EPPRRTLHLR RNRISNCSQR AGARPGSLPE
   661  RKGPELCLEE LDAAIPGSRA VGGSKARVQA RQVPPATASE WRLAQAQQKI RELAINIRMK
   721  EELIGELVRT GKAAQALNRQ HSQRIRELEQ EAEQVRAELS EGQRQLRELE GKELQDAGER
   781  SRLQEFRRRV AAAQSQVQVL KEKKQATERL VSLSAQSEKR LQELERNVQL MRQQQGQLQR
   841  RLREETEQKR RLEAEMSKRQ HRVKELELKH EQQQKILKIK TEEIAAFQRK RRSGSNGSVV
   901  SLEQQQKIEE QKKWLDQEME KVLQQRRALE ELGEELHKRE AILAKKEALM QEKTGLESKR
   961  LRSSQALNED IVRVSSRLEH LEKELSEKSG QLRQGSAQSQ QQIRGEIDSL RQEKDSLLKQ
  1021  RLEIDGKLRQ GSLLSPEEER TLFQLDEAIE ALDAAIEYKN EAITCRQRVL RASASLLSQC
  1081  EMNLMAKLSY LSSSETRALL CKYFDKVVTL REEQHQQQIA FSELEMQLEE QQRLVYWLEV
  1141  ALERQRLEMD RQLTLQQKEH EQNMQLLLQQ SRDHLGEGLA DSRRQYEARI QALEKELGRY
  1201  MWINQELKQK LGGVNAVGHS RGGEKRSLCS EGRQAPGNED ELHLAPELLW LSPLTEGAPR
  1261  TREETRDLVH APLPLTWKRS SLCGEEQGSP EELRQREAAE PLVGRVLPVG EAGLPWNFGP
  1321  LSKPRRELRR ASPGMIDVRK NPL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KIF7 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.48

Highest tissue expression

7.5 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KIF7.

Disease | AllUniProt

Conditions KIF7 is implicated in, by any mechanism.

• Bardet-Biedl syndrome (BBS) MIM:209900
• Hydrolethalus syndrome 2 (HLS2) MIM:614120
• Acrocallosal syndrome (ACLS) MIM:200990
• Joubert syndrome 12 (JBTS12) MIM:200990
• Al-Gazali-Bakalinova syndrome (AGBK) MIM:607131

Disease | GeneticClinVar

105 pathogenic / likely-pathogenic of 1,762 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Acrocallosal syndrome
• Multiple epiphyseal dysplasia, Al-Gazali type
• Hydrolethalus syndrome 2
• KIF7-related disorder
• Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.93

gnomAD pLI

0

gnomAD missense Z

-0.69

DepMap mean gene effect

-0.04

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• microtubule-based movement
• negative regulation of smoothened signaling pathway
• positive regulation of smoothened signaling pathway

Molecular functions

• ATP binding
• ATP hydrolysis activity
• microtubule binding
• microtubule motor activity

Cellular components

• ciliary basal body
• ciliary tip
• cilium
• cytoplasm
• cytosol
• fibrillar center
• kinesin complex
• microtubule

Protein domainsUniProt · Pfam · InterPro

• Kinesin motor domain
• Kinesin motor domain, conserved site
• P-loop containing nucleoside triphosphate hydrolase
• Kinesin-like protein
• Kinesin motor domain superfamily
• Kinesin motor domain
• KIF21A-like domain

KeywordsUniProt

• ATP-binding
• Bardet-Biedl syndrome
• Cell projection
• Ciliopathy
• Cilium
• Coiled coil
• Cytoplasm
• Cytoskeleton
• Intellectual disability
• Joubert syndrome
• Motor protein
• Nucleotide-binding
• Obesity
• Phosphoprotein
• Repressor
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of KIF7 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DLG5
• GLI1
• GLI2
• GLI3
• NPHP1
• SMO
• SUFU
• P4HA2