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UniProtKB - Q12840 (KIF5A_HUMAN)

Entry version 173 (18 Sep 2019)
Sequence version 2 (03 Apr 2007)
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Protein

Kinesin heavy chain isoform 5A

Gene

KIF5A

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

Microtubule-dependent motor required for slow axonal transport of neurofilament proteins (NFH, NFM and NFL). Can induce formation of neurite-like membrane protrusions in non-neuronal cells in a ZFYVE27-dependent manner. The ZFYVE27-KIF5A complex contributes to the vesicular transport of VAPA, VAPB, SURF4, RAB11A, RAB11B and RTN3 proteins in neurons. Required for anterograde axonal transportation of MAPK8IP3/JIP3 which is essential for MAPK8IP3/JIP3 function in axon elongation.By similarity

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 bindingi86 – 93ATPPROSITE-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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-2132295 MHC class II antigen presentation
R-HSA-264876 Insulin processing
R-HSA-5625970 RHO GTPases activate KTN1
R-HSA-6811434 COPI-dependent Golgi-to-ER retrograde traffic
R-HSA-983189 Kinesins

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q12840

<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 heavy chain isoform 5A
Alternative name(s):
Kinesin heavy chain neuron-specific 1
Neuronal kinesin heavy chain
Short name:
NKHC
<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:KIF5A
Synonyms:NKHC1
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 12

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:6323 KIF5A

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		602821 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q12840

<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

Cytoplasm, Cytoskeleton, Microtubule

<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

Spastic paraplegia 10, autosomal dominant (SPG10)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.
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_05874163Y → C in SPG10; complicated form. 1 Publication1
Natural variantiVAR_058742198M → T in SPG10; complicated form. 1 Publication1
Natural variantiVAR_066616203S → C in SPG10. 1 Publication1
Natural variantiVAR_058743204R → Q in SPG10; complicated form. 1 PublicationCorresponds to variant dbSNP:rs387907287EnsemblClinVar.1
Natural variantiVAR_058744251E → K in SPG10; complicated form. 1 PublicationCorresponds to variant dbSNP:rs387907285EnsemblClinVar.1
Natural variantiVAR_046744253K → N in SPG10; decreases microtubule affinity; reduces gliding velocity; reduces microtubule-dependent ATP turnover. 2 Publications1
Natural variantiVAR_032842256N → S in SPG10; slightly decreases microtubule affinity; reduces gliding velocity; reduces microtubule-dependent ATP turnover. 2 PublicationsCorresponds to variant dbSNP:rs121434441EnsemblClinVar.1
Natural variantiVAR_058745256Missing in SPG10. 1 Publication1
Natural variantiVAR_058746257K → N in SPG10; complicated form. 1 Publication1
Natural variantiVAR_033108276Y → C in SPG10. 1 PublicationCorresponds to variant dbSNP:rs121434443EnsemblClinVar.1
Natural variantiVAR_032843280R → C in SPG10. 2 PublicationsCorresponds to variant dbSNP:rs121434442EnsemblClinVar.1
Natural variantiVAR_058747280R → H in SPG10; complicated form. 1 PublicationCorresponds to variant dbSNP:rs387907288EnsemblClinVar.1
Natural variantiVAR_058748280R → L in SPG10; pure form. 1 Publication1
Natural variantiVAR_032844361A → V in SPG10; does not affect microtubule affinity; does not affect gliding velocity; does not affect microtubule-dependent ATP turnover. 2 PublicationsCorresponds to variant dbSNP:rs121434444EnsemblClinVar.1
Myoclonus, intractable, neonatal (NEIMY)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant neurologic disorder characterized by severe, infantile-onset myoclonic seizures, hypotonia, optic nerve abnormalities, dysphagia, apnea, and early developmental arrest. Brain imaging shows a progressive leukoencephalopathy. Some patients may die in infancy.
Related information in OMIM
Amyotrophic lateral sclerosis 25 (ALS25)2 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry. The mutation NM_004984.2:c.33019A>G encoding the predicted missence variant p.Arg1007Gly, may also affect splicing and induce the skipping of exon 27, resulting in a frameshift and a premature stop codon producing a truncated protein p.Asn999Valfs*39.1 Publication
Disease descriptionA form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS25 is an autosomal dominant form with variable adult onset and incomplete penetrance.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080647413E → G in ALS25; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1399145820Ensembl.1
Natural variantiVAR_080648474Q → H in ALS25; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1373971092Ensembl.1
Natural variantiVAR_080649544 – 1032Missing in ALS25. 1 PublicationAdd BLAST489
Natural variantiVAR_080650577S → G in ALS25; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs754373609Ensembl.1
Natural variantiVAR_080651986P → L in ALS25; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs113247976EnsemblClinVar.1
Natural variantiVAR_0806521007R → G in ALS25. 2 Publications1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi280R → S: Strongly reduces microtubule affinity; slightly reduces gliding velocity. 1 Publication1

Keywords - Diseasei

Amyotrophic lateral sclerosis, Disease mutation, Epilepsy, Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

DisGeNET

More...DisGeNETi		3798

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

More...GeneReviewsi		KIF5A

MalaCards human disease database

More...MalaCardsi		KIF5A
MIMi604187 phenotype
617235 phenotype
617921 phenotype

Open Targets

More...OpenTargetsi		ENSG00000155980

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

More...Orphaneti		324611 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
100991 Autosomal dominant spastic paraplegia type 10

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA30107

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL5295

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		KIF5A

Domain mapping of disease mutations (DMDM)

More...DMDMi		143811412

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<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_00001253532 – 1032Kinesin heavy chain isoform 5AAdd BLAST1031

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 residuei2N-acetylalanineCombined sources1
Modified residuei397PhosphothreonineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q12840

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q12840

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q12840

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q12840

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

More...PaxDbi		Q12840

PeptideAtlas

More...PeptideAtlasi		Q12840

PRoteomics IDEntifications database

More...PRIDEi		Q12840

ProteomicsDB human proteome resource

More...ProteomicsDBi		58979

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q12840

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

More...PhosphoSitePlusi		Q12840

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q12840

<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

Distributed throughout the CNS but is highly enriched in subsets of neurons.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000155980 Expressed in 123 organ(s), highest expression level in right frontal lobe

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q12840 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q12840 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA004469
HPA073448

<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

Oligomer composed of two heavy chains and two light chains.

Interacts with GRIP1.

Interacts with FMR1 (via C-terminus); this interaction is increased in a mGluR-dependent manner.

Interacts with ZFYVE27.

Interacts with VAPA, VAPB, SURF4, RAB11A (GDP-bound form), RAB11B (GDP-bound form) and RTN3 in a ZFYVE27-dependent manner (By similarity).

Interacts with BORCS5 (PubMed:25898167).

Interacts with BICD2 (PubMed:20386726).

By similarity2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		109999, 34 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q12840

Database of interacting proteins

More...DIPi		DIP-37584N

Protein interaction database and analysis system

More...IntActi		Q12840, 41 interactors

Molecular INTeraction database

More...MINTi		Q12840

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000408979

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q12840

<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

3D structure databases

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

More...SMRi		Q12840

Database of comparative protein structure models

More...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>Domaini9 – 327Kinesin motorPROSITE-ProRule annotationAdd BLAST319

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>Regioni174 – 315Microtubule-bindingAdd BLAST142
Regioni271 – 361Necessary for interaction with ZFYVE27By similarityAdd BLAST91
Regioni353 – 1032Interaction with BICD21 PublicationAdd BLAST680
Regioni907 – 1032GlobularAdd BLAST126

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 coili331 – 906Add BLAST576

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Composed of three structural domains: a large globular N-terminal domain which is responsible for the motor activity of kinesin (it hydrolyzes ATP and binds microtubule), a central alpha-helical coiled coil domain that mediates the heavy chain dimerization; and a small globular C-terminal domain which interacts with other proteins (such as the kinesin light chains), vesicles and membranous organelles.

<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. Kinesin subfamily.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0240 Eukaryota
COG5059 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000159439

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000216718

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q12840

KEGG Orthology (KO)

More...KOi		K10396

Identification of Orthologs from Complete Genome Data

More...OMAi		EEDFTMA

Database of Orthologous Groups

More...OrthoDBi		1334528at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q12840

TreeFam database of animal gene trees

More...TreeFami		TF105225

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.40.850.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...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

More...PANTHERi		PTHR24115 PTHR24115, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00225 Kinesin, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00380 KINESINHEAVY

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00129 KISc, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF52540 SSF52540, 1 hit

PROSITE; a protein domain and family database

More...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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

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

Q12840-1 [UniParc]FASTAAdd to basket
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        10         20         30         40         50
MAETNNECSI KVLCRFRPLN QAEILRGDKF IPIFQGDDSV VIGGKPYVFD 
        60         70         80         90        100
RVFPPNTTQE QVYHACAMQI VKDVLAGYNG TIFAYGQTSS GKTHTMEGKL 
       110        120        130        140        150
HDPQLMGIIP RIARDIFNHI YSMDENLEFH IKVSYFEIYL DKIRDLLDVT 
       160        170        180        190        200
KTNLSVHEDK NRVPFVKGCT ERFVSSPEEI LDVIDEGKSN RHVAVTNMNE 
       210        220        230        240        250
HSSRSHSIFL INIKQENMET EQKLSGKLYL VDLAGSEKVS KTGAEGAVLD 
       260        270        280        290        300
EAKNINKSLS ALGNVISALA EGTKSYVPYR DSKMTRILQD SLGGNCRTTM 
       310        320        330        340        350
FICCSPSSYN DAETKSTLMF GQRAKTIKNT ASVNLELTAE QWKKKYEKEK 
       360        370        380        390        400
EKTKAQKETI AKLEAELSRW RNGENVPETE RLAGEEAALG AELCEETPVN 
       410        420        430        440        450
DNSSIVVRIA PEERQKYEEE IRRLYKQLDD KDDEINQQSQ LIEKLKQQML 
       460        470        480        490        500
DQEELLVSTR GDNEKVQREL SHLQSENDAA KDEVKEVLQA LEELAVNYDQ 
       510        520        530        540        550
KSQEVEEKSQ QNQLLVDELS QKVATMLSLE SELQRLQEVS GHQRKRIAEV 
       560        570        580        590        600
LNGLMKDLSE FSVIVGNGEI KLPVEISGAI EEEFTVARLY ISKIKSEVKS 
       610        620        630        640        650
VVKRCRQLEN LQVECHRKME VTGRELSSCQ LLISQHEAKI RSLTEYMQSV 
       660        670        680        690        700
ELKKRHLEES YDSLSDELAK LQAQETVHEV ALKDKEPDTQ DADEVKKALE 
       710        720        730        740        750
LQMESHREAH HRQLARLRDE INEKQKTIDE LKDLNQKLQL ELEKLQADYE 
       760        770        780        790        800
KLKSEEHEKS TKLQELTFLY ERHEQSKQDL KGLEETVARE LQTLHNLRKL 
       810        820        830        840        850
FVQDVTTRVK KSAEMEPEDS GGIHSQKQKI SFLENNLEQL TKVHKQLVRD 
       860        870        880        890        900
NADLRCELPK LEKRLRATAE RVKALEGALK EAKEGAMKDK RRYQQEVDRI 
       910        920        930        940        950
KEAVRYKSSG KRGHSAQIAK PVRPGHYPAS SPTNPYGTRS PECISYTNSL 
       960        970        980        990       1000
FQNYQNLYLQ ATPSSTSDMY FANSCTSSGA TSSGGPLASY QKANMDNGNA 
      1010       1020       1030 
TDINDNRSDL PCGYEAEDQA KLFPLHQETA AS
Length:1,032
Mass (Da):117,378
Last modified:April 3, 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:iC4C6C12342040796
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
J3KNA1J3KNA1_HUMAN
Kinesin-like protein
KIF5A
943Annotation score:

Annotation score:2 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 BAE06127 differs from that shown. Reason: Erroneous initiation.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 conflicti490A → V in BAE06127 (Ref. 2) Curated1
Sequence conflicti913G → A in AAA20231 (PubMed:7514426).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05874163Y → C in SPG10; complicated form. 1 Publication1
Natural variantiVAR_058742198M → T in SPG10; complicated form. 1 Publication1
Natural variantiVAR_066616203S → C in SPG10. 1 Publication1
Natural variantiVAR_058743204R → Q in SPG10; complicated form. 1 PublicationCorresponds to variant dbSNP:rs387907287EnsemblClinVar.1
Natural variantiVAR_058744251E → K in SPG10; complicated form. 1 PublicationCorresponds to variant dbSNP:rs387907285EnsemblClinVar.1
Natural variantiVAR_046744253K → N in SPG10; decreases microtubule affinity; reduces gliding velocity; reduces microtubule-dependent ATP turnover. 2 Publications1
Natural variantiVAR_032842256N → S in SPG10; slightly decreases microtubule affinity; reduces gliding velocity; reduces microtubule-dependent ATP turnover. 2 PublicationsCorresponds to variant dbSNP:rs121434441EnsemblClinVar.1
Natural variantiVAR_058745256Missing in SPG10. 1 Publication1
Natural variantiVAR_058746257K → N in SPG10; complicated form. 1 Publication1
Natural variantiVAR_033108276Y → C in SPG10. 1 PublicationCorresponds to variant dbSNP:rs121434443EnsemblClinVar.1
Natural variantiVAR_032843280R → C in SPG10. 2 PublicationsCorresponds to variant dbSNP:rs121434442EnsemblClinVar.1
Natural variantiVAR_058747280R → H in SPG10; complicated form. 1 PublicationCorresponds to variant dbSNP:rs387907288EnsemblClinVar.1
Natural variantiVAR_058748280R → L in SPG10; pure form. 1 Publication1
Natural variantiVAR_032844361A → V in SPG10; does not affect microtubule affinity; does not affect gliding velocity; does not affect microtubule-dependent ATP turnover. 2 PublicationsCorresponds to variant dbSNP:rs121434444EnsemblClinVar.1
Natural variantiVAR_080647413E → G in ALS25; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1399145820Ensembl.1
Natural variantiVAR_080648474Q → H in ALS25; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1373971092Ensembl.1
Natural variantiVAR_080649544 – 1032Missing in ALS25. 1 PublicationAdd BLAST489
Natural variantiVAR_080650577S → G in ALS25; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs754373609Ensembl.1
Natural variantiVAR_080651986P → L in ALS25; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs113247976EnsemblClinVar.1
Natural variantiVAR_0806521007R → G in ALS25. 2 Publications1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
U06698 mRNA Translation: AAA20231.1
AB210045 mRNA Translation: BAE06127.1 Different initiation.
CH471054 Genomic DNA Translation: EAW97030.1
BC146670 mRNA Translation: AAI46671.1
BC150208 mRNA Translation: AAI50209.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS8945.1

Protein sequence database of the Protein Information Resource

More...PIRi		I38510

NCBI Reference Sequences

More...RefSeqi		NP_004975.2, NM_004984.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000455537; ENSP00000408979; ENSG00000155980

Database of genes from NCBI RefSeq genomes

More...GeneIDi		3798

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:3798

UCSC genome browser

More...UCSCi		uc001sor.2 human

<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
U06698 mRNA Translation: AAA20231.1
AB210045 mRNA Translation: BAE06127.1 Different initiation.
CH471054 Genomic DNA Translation: EAW97030.1
BC146670 mRNA Translation: AAI46671.1
BC150208 mRNA Translation: AAI50209.1
CCDSiCCDS8945.1
PIRiI38510
RefSeqiNP_004975.2, NM_004984.2

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
4UXTelectron microscopy7.40C1-340[»]
4UXYelectron microscopy6.50C1-340[»]
4UY0electron microscopy7.70C1-340[»]
SMRiQ12840
ModBaseiSearch...

Protein-protein interaction databases

BioGridi109999, 34 interactors
CORUMiQ12840
DIPiDIP-37584N
IntActiQ12840, 41 interactors
MINTiQ12840
STRINGi9606.ENSP00000408979

Chemistry databases

BindingDBiQ12840
ChEMBLiCHEMBL5295

PTM databases

iPTMnetiQ12840
PhosphoSitePlusiQ12840
SwissPalmiQ12840

Polymorphism and mutation databases

BioMutaiKIF5A
DMDMi143811412

Proteomic databases

EPDiQ12840
jPOSTiQ12840
MassIVEiQ12840
MaxQBiQ12840
PaxDbiQ12840
PeptideAtlasiQ12840
PRIDEiQ12840
ProteomicsDBi58979

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000455537; ENSP00000408979; ENSG00000155980
GeneIDi3798
KEGGihsa:3798
UCSCiuc001sor.2 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		3798
DisGeNETi3798

GeneCards: human genes, protein and diseases

More...GeneCardsi		KIF5A
GeneReviewsiKIF5A
HGNCiHGNC:6323 KIF5A
HPAiHPA004469
HPA073448
MalaCardsiKIF5A
MIMi602821 gene
604187 phenotype
617235 phenotype
617921 phenotype
neXtProtiNX_Q12840
OpenTargetsiENSG00000155980
Orphaneti324611 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
100991 Autosomal dominant spastic paraplegia type 10
PharmGKBiPA30107

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0240 Eukaryota
COG5059 LUCA
GeneTreeiENSGT00940000159439
HOGENOMiHOG000216718
InParanoidiQ12840
KOiK10396
OMAiEEDFTMA
OrthoDBi1334528at2759
PhylomeDBiQ12840
TreeFamiTF105225

Enzyme and pathway databases

ReactomeiR-HSA-2132295 MHC class II antigen presentation
R-HSA-264876 Insulin processing
R-HSA-5625970 RHO GTPases activate KTN1
R-HSA-6811434 COPI-dependent Golgi-to-ER retrograde traffic
R-HSA-983189 Kinesins
SignaLinkiQ12840

Miscellaneous databases

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

More...ChiTaRSi		KIF5A human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		KIF5A

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

More...GenomeRNAii		3798

Pharos

More...Pharosi		Q12840

Protein Ontology

More...PROi		PR:Q12840

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000155980 Expressed in 123 organ(s), highest expression level in right frontal lobe
ExpressionAtlasiQ12840 baseline and differential
GenevisibleiQ12840 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 nameiKIF5A_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: Q12840
Secondary accession number(s): A6H8M5, Q4LE26
<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: November 1, 1997
Last sequence update: April 3, 2007
Last modified: September 18, 2019
This is version 173 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 12
    Human chromosome 12: 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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