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Aliases for KIF7 Gene

Aliases for KIF7 Gene

  • Kinesin Family Member 7 2 3 5
  • EQYK340 3
  • JBTS12 3
  • UNQ340 3
  • ACLS 3
  • AGBK 3
  • HLS2 3

External Ids for KIF7 Gene

Previous GeneCards Identifiers for KIF7 Gene

  • GC15M087973
  • GC15M090171
  • GC15M066284

Summaries for KIF7 Gene

Entrez Gene Summary for KIF7 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]

GeneCards Summary for KIF7 Gene

KIF7 (Kinesin Family Member 7) is a Protein Coding gene. Diseases associated with KIF7 include acrocallosal syndrome and hydrolethalus syndrome 2. Among its related pathways are Signaling by GPCR and Signaling by Hedgehog. GO annotations related to this gene include ATPase activity and microtubule motor activity. An important paralog of this gene is KIF5C.

UniProtKB/Swiss-Prot for KIF7 Gene

  • 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).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIF7 Gene

Genomics for KIF7 Gene

Regulatory Elements for KIF7 Gene

Genomic Location for KIF7 Gene

Chromosome:
15
Start:
89,608,789 bp from pter
End:
89,663,074 bp from pter
Size:
54,286 bases
Orientation:
Minus strand

Genomic View for KIF7 Gene

Genes around KIF7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIF7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIF7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIF7 Gene

Proteins for KIF7 Gene

  • Protein details for KIF7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2M1P5-KIF7_HUMAN
    Recommended name:
    Kinesin-like protein KIF7
    Protein Accession:
    Q2M1P5
    Secondary Accessions:
    • Q3SXY0
    • Q6UXE9
    • Q8IW72

    Protein attributes for KIF7 Gene

    Size:
    1343 amino acids
    Molecular mass:
    150587 Da
    Quaternary structure:
    • Can form homodimers and interacts with microtubules (By similarity). Interacts with GLI1, GLI2, GLI3, SMO and SUFU. Interacts with NPHP1.
    SequenceCaution:
    • Sequence=AAI04045.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI12272.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI12274.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAQ88750.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KIF7 Gene

neXtProt entry for KIF7 Gene

Proteomics data for KIF7 Gene at MOPED

Post-translational modifications for KIF7 Gene

  • Ubiquitination at Lys 1208 and Lys 1278
  • Modification sites at PhosphoSitePlus

Other Protein References for KIF7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KIF7 Gene

Domains & Families for KIF7 Gene

Gene Families for KIF7 Gene

Protein Domains for KIF7 Gene

Suggested Antigen Peptide Sequences for KIF7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q2M1P5

UniProtKB/Swiss-Prot:

KIF7_HUMAN :
  • Contains 1 kinesin motor domain.
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. KIF27 subfamily.
Domain:
  • Contains 1 kinesin motor domain.
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. KIF27 subfamily.
genes like me logo Genes that share domains with KIF7: view

Function for KIF7 Gene

Molecular function for KIF7 Gene

UniProtKB/Swiss-Prot Function:
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).

Gene Ontology (GO) - Molecular Function for KIF7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19592253
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity IBA --
genes like me logo Genes that share ontologies with KIF7: view
genes like me logo Genes that share phenotypes with KIF7: view

Human Phenotype Ontology for KIF7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KIF7 Gene

MGI Knock Outs for KIF7:

Animal Model Products

  • Taconic Biosciences Mouse Models for KIF7

miRNA for KIF7 Gene

miRTarBase miRNAs that target KIF7

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KIF7 Gene

Localization for KIF7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIF7 Gene

Cell projection, cilium. Note=Localizes to the cilium tip.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KIF7 Gene COMPARTMENTS Subcellular localization image for KIF7 gene
Compartment Confidence
cytoskeleton 4
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for KIF7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0097542 ciliary tip TAS --
genes like me logo Genes that share ontologies with KIF7: view

Pathways & Interactions for KIF7 Gene

genes like me logo Genes that share pathways with KIF7: view

Pathways by source for KIF7 Gene

Gene Ontology (GO) - Biological Process for KIF7 Gene

None

No data available for SIGNOR curated interactions for KIF7 Gene

Drugs & Compounds for KIF7 Gene

No Compound Related Data Available

Transcripts for KIF7 Gene

Unigene Clusters for KIF7 Gene

Kinesin family member 7:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KIF7 Gene

No ASD Table

Relevant External Links for KIF7 Gene

GeneLoc Exon Structure for
KIF7
ECgene alternative splicing isoforms for
KIF7

Expression for KIF7 Gene

mRNA expression in normal human tissues for KIF7 Gene

Protein differential expression in normal tissues from HIPED for KIF7 Gene

This gene is overexpressed in Cervix (37.2) and Plasma (15.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for KIF7 Gene



SOURCE GeneReport for Unigene cluster for KIF7 Gene Hs.513134

mRNA Expression by UniProt/SwissProt for KIF7 Gene

Q2M1P5-KIF7_HUMAN
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.
genes like me logo Genes that share expression patterns with KIF7: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for KIF7 Gene

Orthologs for KIF7 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for KIF7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIF7 35
  • 90.1 (n)
  • 87.23 (a)
KIF7 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KIF7 36
  • 90 (a)
OneToOne
LOC538808 35
  • 88.36 (n)
  • 90.25 (a)
dog
(Canis familiaris)
Mammalia KIF7 35
  • 88.48 (n)
  • 89.58 (a)
KIF7 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kif7 16
Kif7 36
  • 89 (a)
OneToOne
Kif7 35
  • 85.25 (n)
  • 89.16 (a)
oppossum
(Monodelphis domestica)
Mammalia KIF7 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIF7 36
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kif7 35
  • 84.74 (n)
  • 88.65 (a)
chicken
(Gallus gallus)
Aves KIF7 35
  • 72.69 (n)
  • 70.58 (a)
KIF7 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIF7 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.3680 35
zebrafish
(Danio rerio)
Actinopterygii kif7 36
  • 57 (a)
OneToOne
kif7 35
  • 62.39 (n)
  • 61.7 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CIN8 36
  • 18 (a)
OneToMany
Species with no ortholog for KIF7:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KIF7 Gene

ENSEMBL:
Gene Tree for KIF7 (if available)
TreeFam:
Gene Tree for KIF7 (if available)

Paralogs for KIF7 Gene

(5) SIMAP similar genes for KIF7 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with KIF7: view

Variants for KIF7 Gene

Sequence variations from dbSNP and Humsavar for KIF7 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs3803530 - 89,632,842(+) GCTTG(A/C)TCTCC downstream-variant-500B, reference, missense
rs12900805 - 89,631,593(+) CTCCC(C/T)GCGGA reference, missense
rs8179065 - 89,652,777(-) GCCGT(A/G)ACCGA reference, missense
rs115857753 Pallister-Hall syndrome (PHS) 89,645,920(+) TGGGC(A/C/G)GCTCC reference, missense
VAR_066451 Bardet-Biedl syndrome (BBS)

Structural Variations from Database of Genomic Variants (DGV) for KIF7 Gene

Variant ID Type Subtype PubMed ID
esv34025 CNV Loss 18971310
nsv1659 CNV Loss 18451855
nsv904481 CNV Loss 21882294
nsv521260 CNV Loss 19592680
nsv904482 CNV Loss 21882294

Variation tolerance for KIF7 Gene

Residual Variation Intolerance Score: 49.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 20.01; 99.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KIF7 Gene

HapMap Linkage Disequilibrium report
KIF7
Human Gene Mutation Database (HGMD)
KIF7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIF7 Gene

Disorders for KIF7 Gene

MalaCards: The human disease database

(22) MalaCards diseases for KIF7 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
acrocallosal syndrome
  • joubert syndrome 12
hydrolethalus syndrome 2
  • hls2
multiple epiphyseal dysplasia, al-gazali type
  • multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome
hydrolethalus syndrome
  • salonen-herva-norio syndrome
pallister-hall syndrome
  • hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly
- elite association - COSMIC cancer census association via MalaCards
Search KIF7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KIF7_HUMAN
  • Note=Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, and hydrolethalus syndrome among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome influence the clinical outcome. Primary ciliopathy loci can be modulated by pathogenic lesions in other ciliary genes to either exacerbate overall severity or induce specific endophenotypes. KIF7 may be causally associated with diverse ciliopathies, and also acts as a modifier gene across the ciliopathy spectrum.
  • Bardet-Biedl syndrome (BBS) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269 PubMed:21552264}. Note=The gene represented in this entry may act as a disease modifier. Heterozygous missense mutations in KIF7 may genetically interact with other BBS genes and contribute to disease manifestation and severity.
  • Hydrolethalus syndrome 2 (HLS2) [MIM:614120]: An embryonic lethal disorder characterized by hydrocephaly or anencephaly, postaxial polydactyly of the upper limbs, and pre- or postaxial polydactyly of the lower limbs. Duplication of the hallux is a common finding. {ECO:0000269 PubMed:21552264}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Acrocallosal syndrome (ACLS) [MIM:200990]: A syndrome characterized by hypogenesis or agenesis of the corpus callosum. Clinical features include postaxial polydactyly, hallux duplication, macrocephaly, craniofacial abnormalities, severe developmental delay and mental retardation. {ECO:0000269 PubMed:21552264, ECO:0000269 PubMed:23125460}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Joubert syndrome 12 (JBTS12) [MIM:200990]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. {ECO:0000269 PubMed:21633164}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Pallister-Hall syndrome (PHS) [MIM:146510]: An autosomal dominant disorder characterized by a wide range of clinical manifestations. Clinical features include hypothalamic hamartoma, pituitary dysfunction, central or postaxial polydactyly, and syndactyly. Malformations are frequent in the viscera, e.g. anal atresia, bifid uvula, congenital heart malformations, pulmonary or renal dysplasia. {ECO:0000269 PubMed:21552264}. Note=The gene represented in this entry may be involved in disease pathogenesis.

Relevant External Links for KIF7

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KIF7
genes like me logo Genes that share disorders with KIF7: view

No data available for Genatlas for KIF7 Gene

Publications for KIF7 Gene

  1. Characterization of KIF7 gene in silico. (PMID: 15547730) Katoh Y. … Katoh M. (Int. J. Oncol. 2004) 2 3 4 67
  2. All kinesin superfamily protein, KIF, genes in mouse and human. (PMID: 11416179) Miki H. … Hirokawa N. (Proc. Natl. Acad. Sci. U.S.A. 2001) 2 3
  3. A novel KIF7 mutation in two affected siblings with acrocallosal syndrome. (PMID: 25714560) Karaer K. … AttiAc-Bitach T. (Clin. Dysmorphol. 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Proximity Interactions among Centrosome Components Identify Regulators of Centriole Duplication. (PMID: 24613305) Firat-Karalar E.N. … Stearns T. (Curr. Biol. 2014) 3

Products for KIF7 Gene

Sources for KIF7 Gene

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