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Entry version 123 (18 Sep 2019)
Sequence version 2 (04 Dec 2007)
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Protein

Kinesin-like protein KIF7

Gene

KIF7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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).By similarity1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi94 – 101ATPPROSITE-ProRule annotation8

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionMotor protein, Repressor
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5610787 Hedgehog 'off' state
R-HSA-5632684 Hedgehog 'on' state

SIGNOR Signaling Network Open Resource

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SIGNORi
Q2M1P5

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Kinesin-like protein KIF7
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:KIF7
ORF Names:UNQ340/PRO539
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 15

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:30497 KIF7

Online Mendelian Inheritance in Man (OMIM)

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MIMi
611254 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q2M1P5

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

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)1 Publication
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.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_066451641R → G in BBS; the patient also carries homozygous mutation R-390 in BBS1; may affect splicing; hypomorphic variant in vitro. 1 PublicationCorresponds to variant dbSNP:rs137905815Ensembl.1
Natural variantiVAR_066455994Q → R in BBS; the patient is a compound heterozygote for a truncating mutation and mutation R-390 in BBS1; hypomorphic variant in vitro. 1 PublicationCorresponds to variant dbSNP:rs138410949EnsemblClinVar.1
Natural variantiVAR_0664561068R → W in BBS; the patient is a compound heterozygote for two frameshift mutations in BBS9; hypomorphic variant in vitro. 1 PublicationCorresponds to variant dbSNP:rs147191956EnsemblClinVar.1
Hydrolethalus syndrome 2 (HLS2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIM
Acrocallosal syndrome (ACLS)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077692154R → Q in ACLS; atypical phenotype; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs180758272EnsemblClinVar.1
Natural variantiVAR_066452702R → Q in ACLS; may affect splicing; hypomorphic mutation in vitro. 1 PublicationCorresponds to variant dbSNP:rs149078926EnsemblClinVar.1
Natural variantiVAR_077693828V → M in ACLS; atypical phenotype; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs143915145EnsemblClinVar.1
Natural variantiVAR_077694987E → K in ACLS; atypical phenotype; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs146626238EnsemblClinVar.1
Natural variantiVAR_0776951122S → W in ACLS; atypical phenotype; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs202195179Ensembl.1
Joubert syndrome 12 (JBTS12)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0664581329 – 1332Missing in JBTS12; found in a patient with Joubert syndrome that also carries mutations L-358 and T-833 in TMEM67. 1 Publication4
Al-Gazali-Bakalinova syndrome (AGBK)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive syndrome consisting of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0711851060N → S in AGBK. 1 PublicationCorresponds to variant dbSNP:rs886039282EnsemblClinVar.1

Keywords - Diseasei

Bardet-Biedl syndrome, Ciliopathy, Disease mutation, Joubert syndrome, Mental retardation, Obesity

Organism-specific databases

DisGeNET

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DisGeNETi
374654

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
KIF7

MalaCards human disease database

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MalaCardsi
KIF7
MIMi200990 phenotype
209900 phenotype
607131 phenotype
614120 phenotype

Open Targets

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OpenTargetsi
ENSG00000166813

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
36 Acrocallosal syndrome
2189 Hydrolethalus
166024 Multiple epiphyseal dysplasia, Al-Gazali type
2754 Orofaciodigital syndrome type 6

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA134871338

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL2021751

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
KIF7

Domain mapping of disease mutations (DMDM)

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DMDMi
172045866

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003071461 – 1343Kinesin-like protein KIF7Add BLAST1343

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei898PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Polyubiquitinated by UBR3.By similarity

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q2M1P5

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q2M1P5

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q2M1P5

MaxQB - The MaxQuant DataBase

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MaxQBi
Q2M1P5

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q2M1P5

PeptideAtlas

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PeptideAtlasi
Q2M1P5

PRoteomics IDEntifications database

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PRIDEi
Q2M1P5

ProteomicsDB human proteome resource

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ProteomicsDBi
61341

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q2M1P5

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q2M1P5

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000166813 Expressed in 116 organ(s), highest expression level in layer of synovial tissue

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q2M1P5 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q2M1P5 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA043145

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Can form homodimers and interacts with microtubules (By similarity).

Interacts with GLI1, GLI2, GLI3, SMO and SUFU (PubMed:19592253).

Interacts with NPHP1 (PubMed:21633164).

Interacts with SMO and DLG5 (via PDZ4 or guanylate kinase-like domain) (By similarity).

By similarity2 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
131912, 70 interactors

Protein interaction database and analysis system

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IntActi
Q2M1P5, 62 interactors

Molecular INTeraction database

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MINTi
Q2M1P5

STRING: functional protein association networks

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STRINGi
9606.ENSP00000377934

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11343
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q2M1P5

Database of comparative protein structure models

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ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini15 – 349Kinesin motorPROSITE-ProRule annotationAdd BLAST335

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni358 – 1206Interaction with SMOBy similarityAdd BLAST849
Regioni358 – 479Interaction with DLG5By similarityAdd BLAST122
Regioni513 – 775Sufficient for interaction with NPHP11 PublicationAdd BLAST263

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili480 – 542Sequence analysisAdd BLAST63
Coiled coili698 – 1057Sequence analysisAdd BLAST360
Coiled coili1109 – 1211Sequence analysisAdd BLAST103

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi395 – 402Poly-Ala8
Compositional biasi624 – 631Poly-Glu8

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. KIF27 subfamily.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0244 Eukaryota
COG5059 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000159749

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000068072

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q2M1P5

KEGG Orthology (KO)

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KOi
K18806

Identification of Orthologs from Complete Genome Data

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OMAi
RLETEMH

Database of Orthologous Groups

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OrthoDBi
369179at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q2M1P5

TreeFam database of animal gene trees

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TreeFami
TF325946

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.40.850.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR027640 Kinesin-like_fam
IPR019821 Kinesin_motor_CS
IPR001752 Kinesin_motor_dom
IPR036961 Kinesin_motor_dom_sf
IPR027417 P-loop_NTPase

The PANTHER Classification System

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PANTHERi
PTHR24115 PTHR24115, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00225 Kinesin, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00380 KINESINHEAVY

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00129 KISc, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF52540 SSF52540, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00411 KINESIN_MOTOR_1, 1 hit
PS50067 KINESIN_MOTOR_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q2M1P5-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGLEAQRLPG AEEAPVRVAL RVRPLLPKEL LHGHQSCLQV EPGLGRVTLG
60 70 80 90 100
RDRHFGFHVV LAEDAGQEAV YQACVQPLLE AFFEGFNATV FAYGQTGSGK
110 120 130 140 150
TYTMGEASVA SLLEDEQGIV PRAMAEAFKL IDENDLLDCL VHVSYLEVYK
160 170 180 190 200
EEFRDLLEVG TASRDIQLRE DERGNVVLCG VKEVDVEGLD EVLSLLEMGN
210 220 230 240 250
AARHTGATHL NHLSSRSHTV FTVTLEQRGR APSRLPRPAP GQLLVSKFHF
260 270 280 290 300
VDLAGSERVL KTGSTGERLK ESIQINSSLL ALGNVISALG DPQRRGSHIP
310 320 330 340 350
YRDSKITRIL KDSLGGNAKT VMIACVSPSS SDFDETLNTL NYASRAQNIR
360 370 380 390 400
NRATVNWRPE AERPPEETAS GARGPPRHRS ETRIIHRGRR APGPATASAA
410 420 430 440 450
AAMRLGAECA RYRACTDAAY SLLRELQAEP GLPGAAARKV RDWLCAVEGE
460 470 480 490 500
RSALSSASGP DSGIESASVE DQAAQGAGGR KEDEGAQQLL TLQNQVARLE
510 520 530 540 550
EENRDFLAAL EDAMEQYKLQ SDRLREQQEE MVELRLRLEL VRPGWGGPRL
560 570 580 590 600
LNGLPPGSFV PRPHTAPLGG AHAHVLGMVP PACLPGDEVG SEQRGEQVTN
610 620 630 640 650
GREAGAELLT EVNRLGSGSS AASEEEEEEE EPPRRTLHLR RNRISNCSQR
660 670 680 690 700
AGARPGSLPE RKGPELCLEE LDAAIPGSRA VGGSKARVQA RQVPPATASE
710 720 730 740 750
WRLAQAQQKI RELAINIRMK EELIGELVRT GKAAQALNRQ HSQRIRELEQ
760 770 780 790 800
EAEQVRAELS EGQRQLRELE GKELQDAGER SRLQEFRRRV AAAQSQVQVL
810 820 830 840 850
KEKKQATERL VSLSAQSEKR LQELERNVQL MRQQQGQLQR RLREETEQKR
860 870 880 890 900
RLEAEMSKRQ HRVKELELKH EQQQKILKIK TEEIAAFQRK RRSGSNGSVV
910 920 930 940 950
SLEQQQKIEE QKKWLDQEME KVLQQRRALE ELGEELHKRE AILAKKEALM
960 970 980 990 1000
QEKTGLESKR LRSSQALNED IVRVSSRLEH LEKELSEKSG QLRQGSAQSQ
1010 1020 1030 1040 1050
QQIRGEIDSL RQEKDSLLKQ RLEIDGKLRQ GSLLSPEEER TLFQLDEAIE
1060 1070 1080 1090 1100
ALDAAIEYKN EAITCRQRVL RASASLLSQC EMNLMAKLSY LSSSETRALL
1110 1120 1130 1140 1150
CKYFDKVVTL REEQHQQQIA FSELEMQLEE QQRLVYWLEV ALERQRLEMD
1160 1170 1180 1190 1200
RQLTLQQKEH EQNMQLLLQQ SRDHLGEGLA DSRRQYEARI QALEKELGRY
1210 1220 1230 1240 1250
MWINQELKQK LGGVNAVGHS RGGEKRSLCS EGRQAPGNED ELHLAPELLW
1260 1270 1280 1290 1300
LSPLTEGAPR TREETRDLVH APLPLTWKRS SLCGEEQGSP EELRQREAAE
1310 1320 1330 1340
PLVGRVLPVG EAGLPWNFGP LSKPRRELRR ASPGMIDVRK NPL
Length:1,343
Mass (Da):150,587
Last modified:December 4, 2007 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i5217A6F36C156587
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8WD21F8WD21_HUMAN
Kinesin-like protein KIF7
KIF7
147Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAI04045 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAI12272 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAI12274 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAQ88750 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti548P → L in AAQ88750 (PubMed:12975309).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06128752D → N. Corresponds to variant dbSNP:rs8179065EnsemblClinVar.1
Natural variantiVAR_077692154R → Q in ACLS; atypical phenotype; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs180758272EnsemblClinVar.1
Natural variantiVAR_066450632P → L1 PublicationCorresponds to variant dbSNP:rs115857753EnsemblClinVar.1
Natural variantiVAR_066451641R → G in BBS; the patient also carries homozygous mutation R-390 in BBS1; may affect splicing; hypomorphic variant in vitro. 1 PublicationCorresponds to variant dbSNP:rs137905815Ensembl.1
Natural variantiVAR_066452702R → Q in ACLS; may affect splicing; hypomorphic mutation in vitro. 1 PublicationCorresponds to variant dbSNP:rs149078926EnsemblClinVar.1
Natural variantiVAR_066453759L → P Found as heterozygous variant in a patient with Bardet-Biedl syndrome; hypomorphic variant in vitro. 1 Publication1
Natural variantiVAR_077693828V → M in ACLS; atypical phenotype; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs143915145EnsemblClinVar.1
Natural variantiVAR_066454834Q → R Rare variant found in a patient with Bardet-Biedl syndrome also carrying a frameshift mutation in BBS10 and variant P-293 in BBS7. 1 PublicationCorresponds to variant dbSNP:rs138354681EnsemblClinVar.1
Natural variantiVAR_035363958S → I1 PublicationCorresponds to variant dbSNP:rs3803530EnsemblClinVar.1
Natural variantiVAR_077694987E → K in ACLS; atypical phenotype; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs146626238EnsemblClinVar.1
Natural variantiVAR_066455994Q → R in BBS; the patient is a compound heterozygote for a truncating mutation and mutation R-390 in BBS1; hypomorphic variant in vitro. 1 PublicationCorresponds to variant dbSNP:rs138410949EnsemblClinVar.1
Natural variantiVAR_0353641005G → R1 PublicationCorresponds to variant dbSNP:rs12900805EnsemblClinVar.1
Natural variantiVAR_0711851060N → S in AGBK. 1 PublicationCorresponds to variant dbSNP:rs886039282EnsemblClinVar.1
Natural variantiVAR_0664561068R → W in BBS; the patient is a compound heterozygote for two frameshift mutations in BBS9; hypomorphic variant in vitro. 1 PublicationCorresponds to variant dbSNP:rs147191956EnsemblClinVar.1
Natural variantiVAR_0664571115H → Q1 PublicationCorresponds to variant dbSNP:rs142032413EnsemblClinVar.1
Natural variantiVAR_0776951122S → W in ACLS; atypical phenotype; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs202195179Ensembl.1
Natural variantiVAR_0664581329 – 1332Missing in JBTS12; found in a patient with Joubert syndrome that also carries mutations L-358 and T-833 in TMEM67. 1 Publication4

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AC079075 Genomic DNA No translation available.
AY358384 mRNA Translation: AAQ88750.1 Different initiation.
BC040878 mRNA Translation: AAH40878.1
BC104044 mRNA Translation: AAI04045.1 Different initiation.
BC112271 mRNA Translation: AAI12272.1 Different initiation.
BC112273 mRNA Translation: AAI12274.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS32325.2

NCBI Reference Sequences

More...
RefSeqi
NP_940927.2, NM_198525.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000394412; ENSP00000377934; ENSG00000166813

Database of genes from NCBI RefSeq genomes

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GeneIDi
374654

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:374654

UCSC genome browser

More...
UCSCi
uc002bof.3 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC079075 Genomic DNA No translation available.
AY358384 mRNA Translation: AAQ88750.1 Different initiation.
BC040878 mRNA Translation: AAH40878.1
BC104044 mRNA Translation: AAI04045.1 Different initiation.
BC112271 mRNA Translation: AAI12272.1 Different initiation.
BC112273 mRNA Translation: AAI12274.1 Different initiation.
CCDSiCCDS32325.2
RefSeqiNP_940927.2, NM_198525.2

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2XT3X-ray1.88A8-347[»]
4A14X-ray1.60A8-347[»]
6MLQelectron microscopy4.20C1-398[»]
6MLRelectron microscopy4.20C1-398[»]
SMRiQ2M1P5
ModBaseiSearch...

Protein-protein interaction databases

BioGridi131912, 70 interactors
IntActiQ2M1P5, 62 interactors
MINTiQ2M1P5
STRINGi9606.ENSP00000377934

Chemistry databases

ChEMBLiCHEMBL2021751

PTM databases

iPTMnetiQ2M1P5
PhosphoSitePlusiQ2M1P5

Polymorphism and mutation databases

BioMutaiKIF7
DMDMi172045866

Proteomic databases

EPDiQ2M1P5
jPOSTiQ2M1P5
MassIVEiQ2M1P5
MaxQBiQ2M1P5
PaxDbiQ2M1P5
PeptideAtlasiQ2M1P5
PRIDEiQ2M1P5
ProteomicsDBi61341

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
374654
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000394412; ENSP00000377934; ENSG00000166813
GeneIDi374654
KEGGihsa:374654
UCSCiuc002bof.3 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
374654
DisGeNETi374654

GeneCards: human genes, protein and diseases

More...
GeneCardsi
KIF7
GeneReviewsiKIF7
HGNCiHGNC:30497 KIF7
HPAiHPA043145
MalaCardsiKIF7
MIMi200990 phenotype
209900 phenotype
607131 phenotype
611254 gene
614120 phenotype
neXtProtiNX_Q2M1P5
OpenTargetsiENSG00000166813
Orphaneti36 Acrocallosal syndrome
2189 Hydrolethalus
166024 Multiple epiphyseal dysplasia, Al-Gazali type
2754 Orofaciodigital syndrome type 6
PharmGKBiPA134871338

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0244 Eukaryota
COG5059 LUCA
GeneTreeiENSGT00940000159749
HOGENOMiHOG000068072
InParanoidiQ2M1P5
KOiK18806
OMAiRLETEMH
OrthoDBi369179at2759
PhylomeDBiQ2M1P5
TreeFamiTF325946

Enzyme and pathway databases

ReactomeiR-HSA-5610787 Hedgehog 'off' state
R-HSA-5632684 Hedgehog 'on' state
SIGNORiQ2M1P5

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
KIF7 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
374654

Pharos

More...
Pharosi
Q2M1P5

Protein Ontology

More...
PROi
PR:Q2M1P5

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000166813 Expressed in 116 organ(s), highest expression level in layer of synovial tissue
ExpressionAtlasiQ2M1P5 baseline and differential
GenevisibleiQ2M1P5 HS

Family and domain databases

Gene3Di3.40.850.10, 1 hit
InterProiView protein in InterPro
IPR027640 Kinesin-like_fam
IPR019821 Kinesin_motor_CS
IPR001752 Kinesin_motor_dom
IPR036961 Kinesin_motor_dom_sf
IPR027417 P-loop_NTPase
PANTHERiPTHR24115 PTHR24115, 1 hit
PfamiView protein in Pfam
PF00225 Kinesin, 1 hit
PRINTSiPR00380 KINESINHEAVY
SMARTiView protein in SMART
SM00129 KISc, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS00411 KINESIN_MOTOR_1, 1 hit
PS50067 KINESIN_MOTOR_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiKIF7_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q2M1P5
Secondary accession number(s): Q3SXY0, Q6UXE9, Q8IW72
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: December 4, 2007
Last modified: September 18, 2019
This is version 123 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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