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Entry version 181 (16 Oct 2019)
Sequence version 2 (12 Dec 2006)
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Protein

Kinesin-like protein KIF1A

Gene

KIF1A

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

Motor for anterograde axonal transport of synaptic vesicle precursors.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 bindingi97 – 104ATPPROSITE-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
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-6811434 COPI-dependent Golgi-to-ER retrograde traffic
R-HSA-983189 Kinesins

<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 KIF1A
Alternative name(s):
Axonal transporter of synaptic vesicles
Microtubule-based motor KIF1A
Unc-104- and KIF1A-related protein
Short name:
hUnc-104
<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:KIF1A
Synonyms:ATSV, C2orf20
<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 2

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:888 KIF1A

Online Mendelian Inheritance in Man (OMIM)

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MIMi
601255 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q12756

<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, 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 30, autosomal recessive (SPG30)1 Publication
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. SPG30 is characterized by onset in the first or second decades of unsteady spastic gait and hyperreflexia of the lower limbs.
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_066650255A → V in SPG30 and MRD9; unknown pathological significance; reduces accumulation in distal regions of the neurites; no effect on microtubule motility. 3 PublicationsCorresponds to variant dbSNP:rs387906798EnsemblClinVar.1
Neuropathy, hereditary sensory, 2C (HSN2C)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neurodegenerative disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs.
Related information in OMIM
Mental retardation, autosomal dominant 9 (MRD9)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07547258S → L in MRD9. 1 PublicationCorresponds to variant dbSNP:rs672601362EnsemblClinVar.1
Natural variantiVAR_06664999T → M in MRD9; affects the subcellular location of the protein; there is a reduced distal localization and increased accumulation throughout the cell body and proximal neurites in cells transfected with a mutant protein; disrupts microtubule motility. 3 PublicationsCorresponds to variant dbSNP:rs387906799EnsemblClinVar.1
Natural variantiVAR_075473102G → D in MRD9. 1 PublicationCorresponds to variant dbSNP:rs672601363EnsemblClinVar.1
Natural variantiVAR_075475144V → F in MRD9. 1 PublicationCorresponds to variant dbSNP:rs672601364EnsemblClinVar.1
Natural variantiVAR_075476167R → C in MRD9; also found in a sporadic case of spastic paraplegia. 2 PublicationsCorresponds to variant dbSNP:rs672601365EnsemblClinVar.1
Natural variantiVAR_075478202A → P in MRD9; reduces accumulation in distal regions of the neurites. 1 PublicationCorresponds to variant dbSNP:rs672601366EnsemblClinVar.1
Natural variantiVAR_075480215S → R in MRD9; reduces accumulation in distal regions of the neurites. 1 PublicationCorresponds to variant dbSNP:rs672601367EnsemblClinVar.1
Natural variantiVAR_075481216R → C in MRD9; disrupts microtubule motility. 1 PublicationCorresponds to variant dbSNP:rs797045164EnsemblClinVar.1
Natural variantiVAR_075482216R → H in MRD9. 1 PublicationCorresponds to variant dbSNP:rs672601368EnsemblClinVar.1
Natural variantiVAR_075483216R → P in MRD9; reduces accumulation in distal regions of the neurites. 1 PublicationCorresponds to variant dbSNP:rs672601368EnsemblClinVar.1
Natural variantiVAR_075486249L → Q in MRD9. 1 PublicationCorresponds to variant dbSNP:rs672601371EnsemblClinVar.1
Natural variantiVAR_075487253E → K in MRD9; reduces accumulation in distal regions of the neurites; disrupts microtubule motility. 2 PublicationsCorresponds to variant dbSNP:rs672601369EnsemblClinVar.1
Natural variantiVAR_066650255A → V in SPG30 and MRD9; unknown pathological significance; reduces accumulation in distal regions of the neurites; no effect on microtubule motility. 3 PublicationsCorresponds to variant dbSNP:rs387906798EnsemblClinVar.1
Natural variantiVAR_075488316R → W in MRD9. 2 PublicationsCorresponds to variant dbSNP:rs672601370EnsemblClinVar.1
Natural variantiVAR_075490350R → G in MRD9; reduces accumulation in distal regions of the neurites. 1 PublicationCorresponds to variant dbSNP:rs387907259EnsemblClinVar.1
Defects in KIF1A are a cause autosomal dominant spastic paraplegia. Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs.2 Publications

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Mental retardation, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNET

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DisGeNETi
547

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

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GeneReviewsi
KIF1A

MalaCards human disease database

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MalaCardsi
KIF1A
MIMi610357 phenotype
614213 phenotype
614255 phenotype

Open Targets

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OpenTargetsi
ENSG00000130294

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

More...
Orphaneti
178469 Autosomal dominant non-syndromic intellectual disability
101010 Autosomal spastic paraplegia type 30
970 Hereditary sensory and autonomic neuropathy type 2
2836 PEHO syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA25180

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q12756

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL3308914

Drug and drug target database

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DrugBanki
DB03909 Adenosine-5'-[Beta, Gamma-Methylene]Triphosphate
DB04395 Phosphoaminophosphonic Acid-Adenylate Ester

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
KIF1A

Domain mapping of disease mutations (DMDM)

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DMDMi
119364606

<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_00001254051 – 1690Kinesin-like protein KIF1AAdd BLAST1690

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 residuei416PhosphoserineCombined sources1
Modified residuei418PhosphoserineCombined sources1
Modified residuei419PhosphoserineCombined sources1
Modified residuei607PhosphothreonineBy similarity1
Modified residuei612PhosphothreonineBy similarity1
Modified residuei932PhosphoserineBy similarity1
Modified residuei937PhosphoserineCombined sources1
Modified residuei1310PhosphoserineCombined sources1
Modified residuei1337PhosphoserineBy similarity1
Modified residuei1519PhosphothreonineBy similarity1
Modified residuei1523PhosphothreonineBy similarity1
Modified residuei1528PhosphoserineBy similarity1
Modified residuei1532PhosphoserineBy similarity1
Modified residuei1548PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q12756

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q12756

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q12756

MaxQB - The MaxQuant DataBase

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MaxQBi
Q12756

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

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PaxDbi
Q12756

PeptideAtlas

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PeptideAtlasi
Q12756

PRoteomics IDEntifications database

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PRIDEi
Q12756

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
25224
58905 [Q12756-1]
58906 [Q12756-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q12756

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

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PhosphoSitePlusi
Q12756

SwissPalm database of S-palmitoylation events

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SwissPalmi
Q12756

<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

Expressed in neurons.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000130294 Expressed in 140 organ(s), highest expression level in frontal cortex

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q12756 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q12756 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA005442

<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

Monomer.

Interacts with PPFIA1 and PPFIA4 (By similarity).

Interacts with SYT11 (By similarity).

By similarity

<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

WithEntry#Exp.IntActNotes
itself4EBI-2679809,EBI-2679809

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
107029, 51 interactors

Database of interacting proteins

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DIPi
DIP-42405N

Protein interaction database and analysis system

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IntActi
Q12756, 42 interactors

Molecular INTeraction database

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MINTi
Q12756

STRING: functional protein association networks

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STRINGi
9606.ENSP00000438388

<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

11690
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
Q12756

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
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>Domaini5 – 354Kinesin motorPROSITE-ProRule annotationAdd BLAST350
Domaini516 – 572FHAPROSITE-ProRule annotationAdd BLAST57
Domaini1575 – 1673PHPROSITE-ProRule annotationAdd BLAST99

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 coili366 – 383Sequence analysisAdd BLAST18
Coiled coili429 – 462Sequence analysisAdd BLAST34
Coiled coili622 – 681Sequence analysisAdd BLAST60
Coiled coili801 – 822Sequence analysisAdd BLAST22

<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. Unc-104 subfamily.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0245 Eukaryota
COG5059 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156474

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000165968

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q12756

KEGG Orthology (KO)

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KOi
K10392

Identification of Orthologs from Complete Genome Data

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OMAi
ELAVWSF

Database of Orthologous Groups

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OrthoDBi
76316at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q12756

TreeFam database of animal gene trees

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TreeFami
TF105221

Family and domain databases

Conserved Domains Database

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CDDi
cd00060 FHA, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.30.29.30, 1 hit
3.40.850.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR000253 FHA_dom
IPR022164 Kinesin-like
IPR027640 Kinesin-like_fam
IPR022140 Kinesin-like_KIF1-typ
IPR032405 Kinesin_assoc
IPR019821 Kinesin_motor_CS
IPR001752 Kinesin_motor_dom
IPR036961 Kinesin_motor_dom_sf
IPR027417 P-loop_NTPase
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR008984 SMAD_FHA_dom_sf

The PANTHER Classification System

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PANTHERi
PTHR24115 PTHR24115, 2 hits

Pfam protein domain database

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Pfami
View protein in Pfam
PF12473 DUF3694, 1 hit
PF00498 FHA, 1 hit
PF12423 KIF1B, 1 hit
PF00225 Kinesin, 1 hit
PF16183 Kinesin_assoc, 1 hit
PF00169 PH, 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
SM00240 FHA, 1 hit
SM00129 KISc, 1 hit
SM00233 PH, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF49879 SSF49879, 1 hit
SSF52540 SSF52540, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50006 FHA_DOMAIN, 1 hit
PS00411 KINESIN_MOTOR_1, 1 hit
PS50067 KINESIN_MOTOR_2, 1 hit
PS50003 PH_DOMAIN, 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>Sequences (3+)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 describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 12 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q12756-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAGASVKVAV RVRPFNSREM SRDSKCIIQM SGSTTTIVNP KQPKETPKSF
60 70 80 90 100
SFDYSYWSHT SPEDINYASQ KQVYRDIGEE MLQHAFEGYN VCIFAYGQTG
110 120 130 140 150
AGKSYTMMGK QEKDQQGIIP QLCEDLFSRI NDTTNDNMSY SVEVSYMEIY
160 170 180 190 200
CERVRDLLNP KNKGNLRVRE HPLLGPYVED LSKLAVTSYN DIQDLMDSGN
210 220 230 240 250
KARTVAATNM NETSSRSHAV FNIIFTQKRH DAETNITTEK VSKISLVDLA
260 270 280 290 300
GSERADSTGA KGTRLKEGAN INKSLTTLGK VISALAEMDS GPNKNKKKKK
310 320 330 340 350
TDFIPYRDSV LTWLLRENLG GNSRTAMVAA LSPADINYDE TLSTLRYADR
360 370 380 390 400
AKQIRCNAVI NEDPNNKLIR ELKDEVTRLR DLLYAQGLGD ITDMTNALVG
410 420 430 440 450
MSPSSSLSAL SSRAASVSSL HERILFAPGS EEAIERLKET EKIIAELNET
460 470 480 490 500
WEEKLRRTEA IRMEREALLA EMGVAMREDG GTLGVFSPKK TPHLVNLNED
510 520 530 540 550
PLMSECLLYY IKDGITRVGR EDGERRQDIV LSGHFIKEEH CVFRSDSRGG
560 570 580 590 600
SEAVVTLEPC EGADTYVNGK KVTEPSILRS GNRIIMGKSH VFRFNHPEQA
610 620 630 640 650
RQERERTPCA ETPAEPVDWA FAQRELLEKQ GIDMKQEMEQ RLQELEDQYR
660 670 680 690 700
REREEATYLL EQQRLDYESK LEALQKQMDS RYYPEVNEEE EEPEDEVQWT
710 720 730 740 750
ERECELALWA FRKWKWYQFT SLRDLLWGNA IFLKEANAIS VELKKKVQFQ
760 770 780 790 800
FVLLTDTLYS PLPPDLLPPE AAKDRETRPF PRTIVAVEVQ DQKNGATHYW
810 820 830 840 850
TLEKLRQRLD LMREMYDRAA EVPSSVIEDC DNVVTGGDPF YDRFPWFRLV
860 870 880 890 900
GRAFVYLSNL LYPVPLVHRV AIVSEKGEVK GFLRVAVQAI SADEEAPDYG
910 920 930 940 950
SGVRQSGTAK ISFDDQHFEK FQSESCPVVG MSRSGTSQEE LRIVEGQGQG
960 970 980 990 1000
ADVGPSADEV NNNTCSAVPP EGLLLDSSEK AALDGPLDAA LDHLRLGNTF
1010 1020 1030 1040 1050
TFRVTVLQAS SISAEYADIF CQFNFIHRHD EAFSTEPLKN TGRGPPLGFY
1060 1070 1080 1090 1100
HVQNIAVEVT KSFIEYIKSQ PIVFEVFGHY QQHPFPPLCK DVLSPLRPSR
1110 1120 1130 1140 1150
RHFPRVMPLS KPVPATKLST LTRPCPGPCH CKYDLLVYFE ICELEANGDY
1160 1170 1180 1190 1200
IPAVVDHRGG MPCMGTFLLH QGIQRRITVT LLHETGSHIR WKEVRELVVG
1210 1220 1230 1240 1250
RIRNTPETDE SLIDPNILSL NILSSGYIHP AQDDRTFYQF EAAWDSSMHN
1260 1270 1280 1290 1300
SLLLNRVTPY REKIYMTLSA YIEMENCTQP AVVTKDFCMV FYSRDAKLPA
1310 1320 1330 1340 1350
SRSIRNLFGS GSLRASESNR VTGVYELSLC HVADAGSPGM QRRRRRVLDT
1360 1370 1380 1390 1400
SVAYVRGEEN LAGWRPRSDS LILDHQWELE KLSLLQEVEK TRHYLLLREK
1410 1420 1430 1440 1450
LETAQRPVPE ALSPAFSEDS ESHGSSSASS PLSAEGRPSP LEAPNERQRE
1460 1470 1480 1490 1500
LAVKCLRLLT HTFNREYTHS HVCVSASESK LSEMSVTLLR DPSMSPLGVA
1510 1520 1530 1540 1550
TLTPSSTCPS LVEGRYGATD LRTPQPCSRP ASPEPELLPE ADSKKLPSPA
1560 1570 1580 1590 1600
RATETDKEPQ RLLVPDIQEI RVSPIVSKKG YLHFLEPHTS GWARRFVVVR
1610 1620 1630 1640 1650
RPYAYMYNSD KDTVERFVLN LATAQVEYSE DQQAMLKTPN TFAVCTEHRG
1660 1670 1680 1690
ILLQAASDKD MHDWLYAFNP LLAGTIRSKL SRRRSAQMRV
Length:1,690
Mass (Da):191,064
Last modified:December 12, 2006 - 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:iFB3CA33B7060AF60
GO
Isoform 2 (identifier: Q12756-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     394-394: M → TNTVPGGPKL
     848-848: R → RLVGSSAISG...PFYDRPPLFS
     1234-1234: D → DRVSLGNDT

Show »
Length:1,799
Mass (Da):202,902
Checksum:i2A9CDACAF2E1395B
GO
Isoform 3 (identifier: Q12756-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     394-394: M → TNTVPGGPKL
     848-848: R → RLVGSSAISG...PFYDRPPLFS

Note: No experimental confirmation available.
Show »
Length:1,791
Mass (Da):202,059
Checksum:i704ED93D10A615FE
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 are 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A3B3IT28A0A3B3IT28_HUMAN
Kinesin-like protein KIF1A
KIF1A
1,708Annotation 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>
A0A3B3ITE5A0A3B3ITE5_HUMAN
Kinesin-like protein KIF1A
KIF1A
1,724Annotation 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>
A0A3B3IU40A0A3B3IU40_HUMAN
Kinesin-like protein KIF1A
KIF1A
1,699Annotation 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>
A0A3B3ITW6A0A3B3ITW6_HUMAN
Kinesin-like protein KIF1A
KIF1A
1,782Annotation 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>
A0A3B3IUA1A0A3B3IUA1_HUMAN
Kinesin-like protein KIF1A
KIF1A
1,699Annotation 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>
A0A3B3ITF7A0A3B3ITF7_HUMAN
Kinesin-like protein KIF1A
KIF1A
1,728Annotation 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>
A0A3F2YNW9A0A3F2YNW9_HUMAN
Kinesin-like protein KIF1A
KIF1A
1,698Annotation 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>
A0A3B3ITK3A0A3B3ITK3_HUMAN
Kinesin-like protein KIF1A
KIF1A
1,444Annotation 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>
H7C0K6H7C0K6_HUMAN
Kinesin-like protein
KIF1A
445Annotation 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>
C9JBH1C9JBH1_HUMAN
Kinesin-like protein KIF1A
KIF1A
38Annotation 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>
There are more potential isoformsShow all

<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 AAB97363 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAE06111 differs from that shown. Probable cloning artifact leading to C-terminal exon with non-canonical splice junction.Curated
The sequence BAE06111 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.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 conflicti104S → T in AAD02917 (Ref. 6) Curated1
Sequence conflicti595N → T in CAA62346 (PubMed:8661001).Curated1
Sequence conflicti777T → K in CAA62346 (PubMed:8661001).Curated1
Sequence conflicti1030D → E in AAA80352 (Ref. 8) Curated1
Sequence conflicti1034S → C in AAA80352 (Ref. 8) Curated1
Sequence conflicti1108P → L in BAG06726 (Ref. 2) Curated1
Sequence conflicti1108P → L in BAD92375 (Ref. 7) Curated1
Sequence conflicti1225S → A in CAA62346 (PubMed:8661001).Curated1
Sequence conflicti1232Q → H in CAA62346 (PubMed:8661001).Curated1
Sequence conflicti1245D → N in CAA62346 (PubMed:8661001).Curated1
Sequence conflicti1257V → I in CAA62346 (PubMed:8661001).Curated1
Sequence conflicti1684R → W in AAI11781 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07547146T → M1 PublicationCorresponds to variant dbSNP:rs182395595Ensembl.1
Natural variantiVAR_07547258S → L in MRD9. 1 PublicationCorresponds to variant dbSNP:rs672601362EnsemblClinVar.1
Natural variantiVAR_07746769S → L Probable disease-associated mutation found in autosomal dominant spastic paraplegia. 2 PublicationsCorresponds to variant dbSNP:rs786200949EnsemblClinVar.1
Natural variantiVAR_06664999T → M in MRD9; affects the subcellular location of the protein; there is a reduced distal localization and increased accumulation throughout the cell body and proximal neurites in cells transfected with a mutant protein; disrupts microtubule motility. 3 PublicationsCorresponds to variant dbSNP:rs387906799EnsemblClinVar.1
Natural variantiVAR_075473102G → D in MRD9. 1 PublicationCorresponds to variant dbSNP:rs672601363EnsemblClinVar.1
Natural variantiVAR_077468102G → S Probable disease-associated mutation found in a sporadic case of spastic paraplegia; de novo mutation. 1 PublicationCorresponds to variant dbSNP:rs1064795534EnsemblClinVar.1
Natural variantiVAR_075474136D → N1 PublicationCorresponds to variant dbSNP:rs374178011Ensembl.1
Natural variantiVAR_075475144V → F in MRD9. 1 PublicationCorresponds to variant dbSNP:rs672601364EnsemblClinVar.1
Natural variantiVAR_075476167R → C in MRD9; also found in a sporadic case of spastic paraplegia. 2 PublicationsCorresponds to variant dbSNP:rs672601365EnsemblClinVar.1
Natural variantiVAR_075477187T → I1 PublicationCorresponds to variant dbSNP:rs370623844EnsemblClinVar.1
Natural variantiVAR_075478202A → P in MRD9; reduces accumulation in distal regions of the neurites. 1 PublicationCorresponds to variant dbSNP:rs672601366EnsemblClinVar.1
Natural variantiVAR_075479205V → M1 PublicationCorresponds to variant dbSNP:rs371039513Ensembl.1
Natural variantiVAR_075480215S → R in MRD9; reduces accumulation in distal regions of the neurites. 1 PublicationCorresponds to variant dbSNP:rs672601367EnsemblClinVar.1
Natural variantiVAR_075481216R → C in MRD9; disrupts microtubule motility. 1 PublicationCorresponds to variant dbSNP:rs797045164EnsemblClinVar.1
Natural variantiVAR_075482216R → H in MRD9. 1 PublicationCorresponds to variant dbSNP:rs672601368EnsemblClinVar.1
Natural variantiVAR_075483216R → P in MRD9; reduces accumulation in distal regions of the neurites. 1 PublicationCorresponds to variant dbSNP:rs672601368EnsemblClinVar.1
Natural variantiVAR_075484220V → I Polymorphism; no effect on microtubule motility. 1 PublicationCorresponds to variant dbSNP:rs201314877EnsemblClinVar.1
Natural variantiVAR_075485233E → D1 PublicationCorresponds to variant dbSNP:rs373882732Ensembl.1
Natural variantiVAR_075486249L → Q in MRD9. 1 PublicationCorresponds to variant dbSNP:rs672601371EnsemblClinVar.1
Natural variantiVAR_075487253E → K in MRD9; reduces accumulation in distal regions of the neurites; disrupts microtubule motility. 2 PublicationsCorresponds to variant dbSNP:rs672601369EnsemblClinVar.1
Natural variantiVAR_066650255A → V in SPG30 and MRD9; unknown pathological significance; reduces accumulation in distal regions of the neurites; no effect on microtubule motility. 3 PublicationsCorresponds to variant dbSNP:rs387906798EnsemblClinVar.1
Natural variantiVAR_075488316R → W in MRD9. 2 PublicationsCorresponds to variant dbSNP:rs672601370EnsemblClinVar.1
Natural variantiVAR_075489336I → V1 PublicationCorresponds to variant dbSNP:rs375423065Ensembl.1
Natural variantiVAR_075490350R → G in MRD9; reduces accumulation in distal regions of the neurites. 1 PublicationCorresponds to variant dbSNP:rs387907259EnsemblClinVar.1
Natural variantiVAR_075491355R → H1 PublicationCorresponds to variant dbSNP:rs373042822EnsemblClinVar.1
Natural variantiVAR_0774691026I → T Found in a case of autosomal dominant spastic paraplegia; unknown pathological significance. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_021853394M → TNTVPGGPKL in isoform 2 and isoform 3. 2 Publications1
Alternative sequenceiVSP_021854848R → RLVGSSAISGCNSYPLLNTC MSERMAALTPSPTFSSPDSD ATEPAEEQSVGEEEEEEEEE EDEEEEDLEDDVFPEHALCD GRDPFYDRPPLFS in isoform 2 and isoform 3. 2 Publications1
Alternative sequenceiVSP_0218551234D → DRVSLGNDT in isoform 2. 1 Publication1

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
X90840 mRNA Translation: CAA62346.1
AB290172 mRNA Translation: BAG06726.1
AC011298 Genomic DNA Translation: AAX93239.1
AC112784 Genomic DNA No translation available.
BC064906 mRNA Translation: AAH64906.1
BC111780 mRNA Translation: AAI11781.1
BC111799 mRNA Translation: AAI11800.1
AB210029 mRNA Translation: BAE06111.1 Sequence problems.
AF004425 mRNA Translation: AAD02917.1
AB209138 mRNA Translation: BAD92375.1
U37194 mRNA Translation: AAA80352.1
L79946 mRNA Translation: AAB04640.1
AF038173 mRNA Translation: AAB97363.1 Different initiation.
BX537556 mRNA Translation: CAH56161.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS46561.1 [Q12756-1]
CCDS58757.1 [Q12756-3]

NCBI Reference Sequences

More...
RefSeqi
NP_001230937.1, NM_001244008.1 [Q12756-3]
NP_001307634.1, NM_001320705.1
NP_004312.2, NM_004321.7 [Q12756-1]
XP_016859880.1, XM_017004391.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000404283; ENSP00000384231; ENSG00000130294 [Q12756-2]
ENST00000498729; ENSP00000438388; ENSG00000130294 [Q12756-3]
ENST00000649096; ENSP00000497030; ENSG00000130294 [Q12756-1]
ENST00000650053; ENSP00000497824; ENSG00000130294 [Q12756-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
547

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:547

UCSC genome browser

More...
UCSCi
uc010fzk.3 human [Q12756-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
X90840 mRNA Translation: CAA62346.1
AB290172 mRNA Translation: BAG06726.1
AC011298 Genomic DNA Translation: AAX93239.1
AC112784 Genomic DNA No translation available.
BC064906 mRNA Translation: AAH64906.1
BC111780 mRNA Translation: AAI11781.1
BC111799 mRNA Translation: AAI11800.1
AB210029 mRNA Translation: BAE06111.1 Sequence problems.
AF004425 mRNA Translation: AAD02917.1
AB209138 mRNA Translation: BAD92375.1
U37194 mRNA Translation: AAA80352.1
L79946 mRNA Translation: AAB04640.1
AF038173 mRNA Translation: AAB97363.1 Different initiation.
BX537556 mRNA Translation: CAH56161.1
CCDSiCCDS46561.1 [Q12756-1]
CCDS58757.1 [Q12756-3]
RefSeqiNP_001230937.1, NM_001244008.1 [Q12756-3]
NP_001307634.1, NM_001320705.1
NP_004312.2, NM_004321.7 [Q12756-1]
XP_016859880.1, XM_017004391.1

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
4EGXX-ray2.51A/B/C/D430-607[»]
4EJQX-ray1.89A/B/C/D/E/F/G/H458-607[»]
4UXOelectron microscopy6.30C1-361[»]
4UXPelectron microscopy6.30C1-361[»]
4UXRelectron microscopy7.00C1-361[»]
4UXSelectron microscopy7.00C1-361[»]
SMRiQ12756
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi107029, 51 interactors
DIPiDIP-42405N
IntActiQ12756, 42 interactors
MINTiQ12756
STRINGi9606.ENSP00000438388

Chemistry databases

ChEMBLiCHEMBL3308914
DrugBankiDB03909 Adenosine-5'-[Beta, Gamma-Methylene]Triphosphate
DB04395 Phosphoaminophosphonic Acid-Adenylate Ester

PTM databases

iPTMnetiQ12756
PhosphoSitePlusiQ12756
SwissPalmiQ12756

Polymorphism and mutation databases

BioMutaiKIF1A
DMDMi119364606

Proteomic databases

EPDiQ12756
jPOSTiQ12756
MassIVEiQ12756
MaxQBiQ12756
PaxDbiQ12756
PeptideAtlasiQ12756
PRIDEiQ12756
ProteomicsDBi25224
58905 [Q12756-1]
58906 [Q12756-2]

Genome annotation databases

EnsembliENST00000404283; ENSP00000384231; ENSG00000130294 [Q12756-2]
ENST00000498729; ENSP00000438388; ENSG00000130294 [Q12756-3]
ENST00000649096; ENSP00000497030; ENSG00000130294 [Q12756-1]
ENST00000650053; ENSP00000497824; ENSG00000130294 [Q12756-1]
GeneIDi547
KEGGihsa:547
UCSCiuc010fzk.3 human [Q12756-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
547
DisGeNETi547

GeneCards: human genes, protein and diseases

More...
GeneCardsi
KIF1A
GeneReviewsiKIF1A
HGNCiHGNC:888 KIF1A
HPAiHPA005442
MalaCardsiKIF1A
MIMi601255 gene
610357 phenotype
614213 phenotype
614255 phenotype
neXtProtiNX_Q12756
OpenTargetsiENSG00000130294
Orphaneti178469 Autosomal dominant non-syndromic intellectual disability
101010 Autosomal spastic paraplegia type 30
970 Hereditary sensory and autonomic neuropathy type 2
2836 PEHO syndrome
PharmGKBiPA25180

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0245 Eukaryota
COG5059 LUCA
GeneTreeiENSGT00940000156474
HOGENOMiHOG000165968
InParanoidiQ12756
KOiK10392
OMAiELAVWSF
OrthoDBi76316at2759
PhylomeDBiQ12756
TreeFamiTF105221

Enzyme and pathway databases

ReactomeiR-HSA-6811434 COPI-dependent Golgi-to-ER retrograde traffic
R-HSA-983189 Kinesins

Miscellaneous databases

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

More...
ChiTaRSi
KIF1A human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
KIF1A

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

More...
GenomeRNAii
547
PharosiQ12756

Protein Ontology

More...
PROi
PR:Q12756

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000130294 Expressed in 140 organ(s), highest expression level in frontal cortex
ExpressionAtlasiQ12756 baseline and differential
GenevisibleiQ12756 HS

Family and domain databases

CDDicd00060 FHA, 1 hit
Gene3Di2.30.29.30, 1 hit
3.40.850.10, 1 hit
InterProiView protein in InterPro
IPR000253 FHA_dom
IPR022164 Kinesin-like
IPR027640 Kinesin-like_fam
IPR022140 Kinesin-like_KIF1-typ
IPR032405 Kinesin_assoc
IPR019821 Kinesin_motor_CS
IPR001752 Kinesin_motor_dom
IPR036961 Kinesin_motor_dom_sf
IPR027417 P-loop_NTPase
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR008984 SMAD_FHA_dom_sf
PANTHERiPTHR24115 PTHR24115, 2 hits
PfamiView protein in Pfam
PF12473 DUF3694, 1 hit
PF00498 FHA, 1 hit
PF12423 KIF1B, 1 hit
PF00225 Kinesin, 1 hit
PF16183 Kinesin_assoc, 1 hit
PF00169 PH, 1 hit
PRINTSiPR00380 KINESINHEAVY
SMARTiView protein in SMART
SM00240 FHA, 1 hit
SM00129 KISc, 1 hit
SM00233 PH, 1 hit
SUPFAMiSSF49879 SSF49879, 1 hit
SSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS50006 FHA_DOMAIN, 1 hit
PS00411 KINESIN_MOTOR_1, 1 hit
PS50067 KINESIN_MOTOR_2, 1 hit
PS50003 PH_DOMAIN, 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 nameiKIF1A_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: Q12756
Secondary accession number(s): B0I1S5
, F5H045, O95068, Q13355, Q14752, Q2NKJ6, Q4LE42, Q53T78, Q59GH1, Q63Z40, Q6P1R9, Q7KZ57
<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: December 12, 2006
Last modified: October 16, 2019
This is version 181 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. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  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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