Free for academic non-profit institutions. Other users need a Commercial license
The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described. [... See more...
Aliases for KIF1A Gene
Aliases for KIF1A Gene
External Ids for KIF1A Gene
- HGNC: 888
- NCBI Entrez Gene: 547
- Ensembl: ENSG00000130294
- OMIM®: 601255
- UniProtKB/Swiss-Prot: Q12756
Previous HGNC Symbols for KIF1A Gene
- ATSV
- C2orf20
- SPG30
Previous GeneCards Identifiers for KIF1A Gene
- GC02M241975
- GC02M241973
- GC02M241373
- GC02M241653
- GC02M233413
Summaries for KIF1A Gene
-
The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]
GeneCards Summary for KIF1A Gene
KIF1A (Kinesin Family Member 1A) is a Protein Coding gene. Diseases associated with KIF1A include Spastic Paraplegia 30, Autosomal Dominant and Nescav Syndrome. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include ATPase activity and microtubule motor activity. An important paralog of this gene is KIF1B.
UniProtKB/Swiss-Prot Summary for KIF1A Gene
-
Motor for anterograde axonal transport of synaptic vesicle precursors. Also required for neuronal dense core vesicles (DCVs) transport to the dendritic spines and axons. The interaction calcium-dependent with CALM1 increases vesicle motility and interaction with the scaffolding proteins PPFIA2 and TANC2 recruits DCVs to synaptic sites.
Additional gene information for KIF1A Gene
- HGNC (888)
- NCBI Entrez Gene (547)
- Ensembl (ENSG00000130294)
- OMIM® (601255)
- UniProtKB/Swiss-Prot (Q12756)
- Open Targets Platform(ENSG00000130294)
- Monarch Initiative
- Search for KIF1A at DataMed
- Search for KIF1A at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KIF1A Gene
Genomics for KIF1A Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for KIF1A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around KIF1A on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KIF1A
- Top Transcription factor binding sites by QIAGEN in the KIF1A gene promoter:
-
- c-Myb
- C/EBPalpha
- CHOP-10
- E47
- Egr-2
- GATA-1
- p300
- Pax-4a
- Spz1
- SRY
Genomic Locations for KIF1A Gene
Latest Assembly
- chr2:240,713,761-240,824,293
- (GRCh38/hg38)
- Size:
- 110,533 bases
- Orientation:
- Minus strand
Previous Assembly
- chr2:241,653,184-241,760,820
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 107,637 bases
- Orientation:
- Minus strand
- chr2:241,653,181-241,759,725
- (GRCh37/hg19 by Ensembl)
- Size:
- 106,545 bases
- Orientation:
- Minus strand
Genomic View for KIF1A Gene
Genes around KIF1A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q37.3 by HGNC
- 2q37.3 by Entrez Gene
- 2q37.3 by Ensembl
KIF1A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for KIF1A Gene
Proteins for KIF1A Gene
-
Protein details for KIF1A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q12756-KIF1A_HUMAN
- Recommended name:
- Kinesin-like protein KIF1A
- Protein Accession:
- Q12756
- B0I1S5
- F5H045
- O95068
- Q13355
- Q14752
- Q2NKJ6
- Q4LE42
- Q53T78
- Q59GH1
- Q63Z40
- Q6P1R9
- Q7KZ57
Protein attributes for KIF1A Gene
- Size:
- 1690 amino acids
- Molecular mass:
- 191064 Da
- Quaternary structure:
-
- Monomer. Interacts with PPFIA1 and PPFIA4 (By similarity). Interacts with CALM1; the interaction is increased in presence of calcium and increases neuronal dense core vesicles motility (PubMed:30021165). Interacts with PPFIA2 and TANC2; both interactions allow the recruitment of neuronal dense core vesicles to dendritic spines and decrease in presence of calcium (PubMed:30021165). Interacts with SYT4 (unphosphorylated) and SYT11; both interactions increase in presence of calcium (By similarity).
- SequenceCaution:
-
- Sequence=AAB97363.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAE06111.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAE06111.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact leading to C-terminal exon with non-canonical splice junction.; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for KIF1A Gene
Protein Expression for KIF1A Gene
Post-translational modifications for KIF1A Gene
Other Protein References for KIF1A Gene
- ENSEMBL proteins:
-
- ENSP00000497030
- ENSP00000438388
- ENSP00000322791
- ENSP00000498196
- ENSP00000497586
- ENSP00000498099
- ENSP00000498082
- ENSP00000497824
- ENSP00000497739
- ENSP00000497678
- ENSP00000497293
- ENSP00000497935
- ENSP00000414613
- ENSP00000384231
- ENSP00000502435
- ENSP00000502786
- ENSP00000501938
- ENSP00000501874
- ENSP00000502241
- ENSP00000395443
- ENSP00000501825
- ENSP00000502584
- ENSP00000497953
- ENSP00000501930
- ENSP00000398686
- ENSP00000501778
- ENSP00000502048
- ENSP00000501962
- ENSP00000501849
- Q12756.187
- REFSEQ proteins:
-
- NP_001230937.1
- NP_001307634.1
- NP_001317218.1
- NP_001317219.1
- NP_001366560.1
- NP_001366561.1
- NP_001366562.1
- NP_001366563.1
- NP_001366564.1
- NP_001366565.1
- NP_001366566.1
- NP_001366567.1
- NP_001366568.1
- NP_001366569.1
- NP_001366570.1
- NP_001366571.1
- NP_001366574.1
- NP_001366575.1
- NP_001366577.1
- NP_001366578.1
- NP_001366579.1
- NP_001366580.1
- NP_001366582.1
- NP_004312.2
Antibodies for research
-
Custom Antibody ServicesOriGene Antibodies for KIF1A
- Novus Biologicals Antibodies for KIF1A
-
Abcam antibodies for KIF1A
- Invitrogen Antibodies for KIF1A (AFLGC-KIF1A)
Protein products for research
-
OriGene Purified Proteins for KIF1A
- Search Origene for MassSpec and Protein Over-expression Lysates for KIF1A
- Origene Custom Protein Services for KIF1A
-
Abcam proteins for KIF1A
Assay products for research
- antibodies-online: Show 5 available KIF1A Elisa Kits ranked by validation data
- Compare Top KIF1A Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for KIF1A Gene
Domains & Families for KIF1A Gene
Gene Families for KIF1A Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for KIF1A Gene
- InterPro:
- Blocks:
-
- Forkhead-associated (FHA)
- Pleckstrin-like
- Kinesin, motor region
- ProtoNet:
Suggested Antigen Peptide Sequences for KIF1A Gene
- GenScript: Design optimal peptide antigens:
-
- Unc-104- and KIF1A-related protein (KIF1A_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q12756UniProtKB/Swiss-Prot:
KIF1A_HUMAN :- Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Unc-104 subfamily.
- Family:
-
- Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Unc-104 subfamily.
Function for KIF1A Gene
Molecular function for KIF1A Gene
- UniProtKB/Swiss-Prot Function:
- Motor for anterograde axonal transport of synaptic vesicle precursors. Also required for neuronal dense core vesicles (DCVs) transport to the dendritic spines and axons. The interaction calcium-dependent with CALM1 increases vesicle motility and interaction with the scaffolding proteins PPFIA2 and TANC2 recruits DCVs to synaptic sites.
Phenotypes From GWAS Catalog for KIF1A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0003774 | motor activity | IEA,TAS | 7539720 |
| GO:0003777 | microtubule motor activity | IEA,IBA | 21873635 |
| GO:0005515 | protein binding | IPI | 32814053 |
| GO:0005524 | ATP binding | IEA | -- |
Phenotypes for KIF1A Gene
- MGI mutant phenotypes for KIF1A:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for KIF1A:
Animal Models for KIF1A Gene
- MGI Knock Outs for KIF1A:
-
- Kif1a Kif1a<tm1Noh>
Animal Models for research
-
Taconic Biosciences Mouse Models for KIF1A
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for KIF1A - Starting at $85 >
- * KIF1A CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for KIF1A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KIF1A
-
Santa Cruz Biotechnology (SCBT) CRISPR for KIF1A
miRNA for KIF1A Gene
- miRTarBase miRNAs that target KIF1A
-
- mmu-let-7b-5p (MIRT012141)
- hsa-miR-423-5p (MIRT038023)
- hsa-miR-652-3p (MIRT039561)
- hsa-miR-423-3p (MIRT042597)
- hsa-miR-149-5p (MIRT045431)
- hsa-miR-9-5p (MIRT045783)
- hsa-miR-92a-3p (MIRT049281)
- hsa-miR-17-5p (MIRT051041)
- hsa-miR-15a-5p (MIRT051327)
- hsa-miR-493-3p (MIRT440374)
- mmu-miR-466l-5p (MIRT589716)
- mmu-miR-653-5p (MIRT589717)
- mmu-miR-18b-5p (MIRT589718)
- mmu-miR-18a-5p (MIRT589719)
- mmu-miR-466i-5p (MIRT589720)
- mmu-miR-466k (MIRT589721)
- mmu-miR-466d-5p (MIRT589722)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KIF1A
- Browse OriGene Inhibitory RNA Products For KIF1A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIF1A
Clone products for research
- Applied Biological Materials (abm): Clones for KIF1A - Starting at $45 >
- * KIF1A as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for KIF1A
- Addgene plasmids for KIF1A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KIF1A
Cell Lines for research
-
Horizon Cell Lines for KIF1A
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KIF1A Gene
Localization for KIF1A Gene
Subcellular locations from UniProtKB/Swiss-Prot for KIF1A Gene
- Cytoplasm, cytoskeleton. Cell projection, neuron projection. Cytoplasmic vesicle, secretory vesicle, neuronal dense core vesicle membrane. Peripheral membrane protein. Cytoplasmic side. Note=Expressed in distal regions of neurites. {ECO:0000269 PubMed:25265257}.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 4 |
| cytosol | 4 |
| nucleus | 3 |
| plasma membrane | 2 |
| mitochondrion | 2 |
| endosome | 2 |
| lysosome | 2 |
| golgi apparatus | 2 |
| extracellular | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
- Centriolar satellite (2)
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | IEA | -- |
| GO:0005856 | cytoskeleton | IEA | -- |
| GO:0005871 | kinesin complex | IBA | 21873635 |
| GO:0005874 | microtubule | IEA,IBA | 21873635 |
Pathways & Interactions for KIF1A Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Golgi-to-ER retrograde transport |
.52
|
|
| 2 | Vesicle-mediated transport | ||
| 3 | Factors involved in megakaryocyte development and platelet production | ||
| 4 | Response to elevated platelet cytosolic Ca2+ |
.44
|
|
Pathways by source for KIF1A Gene
Interacting Proteins for KIF1A Gene
Selected Interacting proteins:
Q12756-KIF1A_HUMAN
ENSP00000438388
for KIF1A Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for KIF1A
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007018 | microtubule-based movement | IEA,IBA | 21873635 |
| GO:0008089 | anterograde axonal transport | IEA,TAS | 7539720 |
| GO:0016192 | vesicle-mediated transport | IBA | 21873635 |
| GO:0022027 | interkinetic nuclear migration | IEA | -- |
| GO:0030705 | cytoskeleton-dependent intracellular transport | IBA | 21873635 |
No data available for SIGNOR curated interactions for KIF1A Gene
Transcripts for KIF1A Gene
mRNA/cDNA for KIF1A Gene
- 24 REFSEQ mRNAs :
- 31 NCBI additional mRNA sequence :
- 52 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000320389 8785 nts (view in UCSC)
- ENST00000404283 5647 nts (view in UCSC)
- ENST00000415042 550 nts (view in UCSC)
- ENST00000428768 1426 nts (view in UCSC)
- ENST00000431776 2377 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for KIF1A - Starting at $85 >
- * KIF1A CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for KIF1A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KIF1A
-
Santa Cruz Biotechnology (SCBT) CRISPR for KIF1A
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KIF1A
- Browse OriGene Inhibitory RNA Products For KIF1A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIF1A
Clone products for research
- Applied Biological Materials (abm): Clones for KIF1A - Starting at $45 >
- * KIF1A as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for KIF1A
- Addgene plasmids for KIF1A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KIF1A
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20a | · | 20b | · | 20c | ^ | 21 | ^ | 22a | · | 22b | ^ | 23 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: |
| ExUns: | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28a | · | 28b | ^ | 29 | ^ | 30a | · | 30b | ^ | 31a | · | 31b | ^ | 32 | ^ | 33 | ^ | 34 | ^ | 35 | ^ | 36a | · | 36b | ^ | 37a | · | 37b | ^ | 38a | · | 38b | ^ | 39 | ^ | 40 | ^ | 41 | ^ | 42 | ^ | 43 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
| SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: |
| ExUns: | 44a | · | 44b | ^ | 45a | · | 45b | ^ | 46 | ^ | 47 | ^ | 48a | · | 48b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||
| SP2: | - | ||||||||||||||
| SP3: | |||||||||||||||
| SP4: | |||||||||||||||
| SP5: | |||||||||||||||
| SP6: | |||||||||||||||
| SP7: | |||||||||||||||
| SP8: | |||||||||||||||
| SP9: | |||||||||||||||
| SP10: | - | - | - | - | - | - | |||||||||
| SP11: | |||||||||||||||
| SP12: |
Relevant External Links for KIF1A Gene
- GeneLoc Exon Structure for
- KIF1A
Expression for KIF1A Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Inner Cell Mass (Early Embryonic Tissues)
- Brain (Nervous System)
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
-
Liver (Hepatobiliary System)
- Hepatocytes Liver Lobule
- Intestine (Gastrointestinal Tract)
- Pancreas (Endocrine System)
- Eye (Sensory Organs)
mRNA differential expression in normal tissues according to GTEx for KIF1A Gene
This gene is overexpressed in Brain - Cortex (x5.7), Brain - Anterior cingulate cortex (BA24) (x4.9), Brain - Frontal Cortex (BA9) (x4.9), Brain - Amygdala (x4.8), and Brain - Hippocampus (x4.4).
This gene is overexpressed in Brain (23.2), Frontal cortex (13.6), Liver (9.8), Fetal Brain (7.8), and Spinal cord (6.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KIF1A Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KIF1A
SOURCE GeneReport for Unigene cluster for KIF1A Gene:
Hs.516802mRNA Expression by UniProt/SwissProt for KIF1A Gene:
Q12756-KIF1A_HUMAN
Tissue specificity:
Expressed in neurons.
Evidence on tissue expression from TISSUES for KIF1A Gene
- Nervous system(5)
- Eye(4.8)
- Pancreas(4.6)
- Lung(2.4)
- Muscle(2.3)
- Kidney(2.1)
- Skin(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for KIF1A Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- lymphatic
- nervous
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- neck
- nose
- olfactory bulb
- outer ear
- pharynx
- skull
- tongue
- tooth
Thorax:
- chest wall
- clavicle
- esophagus
- heart
- rib
- rib cage
- scapula
- sternum
Abdomen:
- abdominal wall
- intestine
- large intestine
- stomach
Pelvis:
- pelvis
- prostate
- rectum
- urinary bladder
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- nail
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- bone marrow
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- sweat gland
- vertebrae
- white blood cell
Primer products for research
-
OriGene qPCR primer pairs for KIF1A
Gene Expression Assays for research
Orthologs for KIF1A Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | KIF1A 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | KIF1A 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | KIF1A 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | KIF1A 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | KIF1A 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Kif1a 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Kif1a 30 |
|
||
| Chicken (Gallus gallus) |
Aves | KIF1A 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | KIF1A 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | kif1a 30 |
|
||
| Str.17627 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | kif1aa 31 |
|
OneToMany | |
| kif1ab 31 |
|
OneToMany | |||
| kif1a 30 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | KIF1A_ANOGA 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | unc-104 30 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | unc-104 30 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for KIF1A was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for KIF1A Gene
- ENSEMBL:
- Gene Tree for KIF1A (if available)
- TreeFam:
- Gene Tree for KIF1A (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for KIF1A: view image
Paralogs for KIF1A Gene
Paralogs for KIF1A Gene
- KIF1B 5
- KIF1C 5
- KIF13B 5
- KIF13A 5
- KIF14 5
- KIF16B 5
- KIF21A 5
- KIF21B 5
- KIF15 5
- KIF17 5
- CENPE 5
- KIF4A 5
- KIF4B 5
- KIF7 5
- KIF26B 5
- KIF3B 5
- KIF24 5
- KIF5B 5
- KIF3C 5
- KIF27 5
- KIF11 5
- KIF3A 5
- KIF26A 5
- KIF5A 5
- KIF5C 5
- KIF19 5
- KIF18A 5
- KIF23 5
- KIF6 5
- KIF20A 5
- KIF18B 5
- KIF2A 5
- KIF12 5
- KIF9 5
- KIF22 5
- KIF2C 5
- KIFC3 5
- KIF2B 5
- KIFC1 5
- KIF25 5
- KIFC2 5
(34) SIMAP similar genes for KIF1A Gene using alignment to 7 proteins:
- KIF1A_HUMAN
- C9JBH1_HUMAN
- F8W8V9_HUMAN
- G1UI30_HUMAN
- H7C0K6_HUMAN
- H7C3Y8_HUMAN
- H7C437_HUMAN
- KIF1C
- KIF1Bbeta
- KIF1B
- KIF13B
- KIF28P
- KIF5C
- KIF3A
- KIF5A
- STARD9
- KIF15
- KIFC3
- KIF2C
- KIF5B
- KIF16B
- KIF6
- KIF12
- KIF5B-RET(NM_020975)_K23;R12
- KIF5B-RET(NM_020975)_K22;R12
- KIF5B-RET(NM_020975)_K16;R12
- KIF5B-RET(NM_020975)_K15;R12
- KIF5B-RET(NM_020630)_K24;R11
- KIF5B-RET(NM_020630)_K23;R12
- KIF5B-RET(NM_020630)_K22;R12
- KIF5B-RET(NM_020630)_K16;R12
- KIF5B-RET(NM_020630)_K15;R12
- KIF5B-ALK_K17;A20
- KIF22
- KIF18B
- KIF23
- KIF21A
- KIF3C
- KIF27
- CENPE
- KIF9
Variants for KIF1A Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KIF1A Gene
| SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 834455 | Uncertain Significance: Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Intellectual disability, autosomal dominant 9 | 240,786,465(-) |
G/A NM_001244008.2(KIF1A):c.478C>T (p.Pro160Ser) |
MISSENSE | |
| 834555 | Uncertain Significance: Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Intellectual disability, autosomal dominant 9 | 240,745,825(-) |
C/T NM_001244008.2(KIF1A):c.3287G>A (p.Arg1096His) |
MISSENSE | |
| 834624 | Uncertain Significance: Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Intellectual disability, autosomal dominant 9 | 240,719,926(-) |
C/T NM_001244008.2(KIF1A):c.4869G>A (p.Arg1623=) |
SYNONYMOUS | |
| 834750 | Uncertain Significance: Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Intellectual disability, autosomal dominant 9 | 240,797,689(-) |
G/A NM_001244008.2(KIF1A):c.64C>T (p.Arg22Cys) |
MISSENSE | |
| 836503 | Uncertain Significance: Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Intellectual disability, autosomal dominant 9 | 240,722,482(-) |
C/G NM_001244008.2(KIF1A):c.4639G>C (p.Glu1547Gln) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
0.723% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.36;
41.92% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for KIF1A Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIF1A Gene
Disorders for KIF1A Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spastic paraplegia 30, autosomal dominant |
|
|
| nescav syndrome |
|
|
| neuropathy, hereditary sensory, type iic |
|
|
| neuropathy, hereditary sensory and autonomic, type iia |
|
|
| peho syndrome |
|
Search KIF1A in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
KIF1A_HUMAN- Spastic paraplegia 30 (SPG30) [MIM:610357]: A 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. Some SPG30 patients have a pure form of the disorder, limited to spastic paraplegia, whereas others may have a complicated form that includes additional features such as cognitive dysfunction, learning disabilities, peripheral sensorimotor neuropathy, urinary sphincter problems, and/or cerebellar atrophy. SPG30 is characterized by onset in the first or second decades of unsteady spastic gait and hyperreflexia of the lower limbs. Inheritance can be autosomal dominant or autosomal recessive. {ECO:0000269 PubMed:21487076, ECO:0000269 PubMed:22258533, ECO:0000269 PubMed:25265257, ECO:0000269 PubMed:25585697, ECO:0000269 PubMed:26125038, ECO:0000269 PubMed:26410750, ECO:0000269 PubMed:28832565, ECO:0000269 PubMed:29159194, ECO:0000269 PubMed:31488895, ECO:0000269 PubMed:32096284}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Neuropathy, hereditary sensory, 2C (HSN2C) [MIM:614213]: A 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. {ECO:0000269 PubMed:21820098}. Note=The disease is caused by variants affecting the gene represented in this entry.
- NESCAV syndrome (NESCAVS) [MIM:614255]: An autosomal dominant neurodegenerative disorder with variable manifestations. Main features are delayed psychomotor development, progressive spasticity, intellectual disability, speech delay, and learning disabilities. Some patients never achieve ambulation. Additional variable features are cortical visual impairment, often associated with optic atrophy, axonal peripheral neuropathy, seizures, dysautonomia, ataxia, and dystonia. Brain imaging often shows progressive cerebellar atrophy and thin corpus callosum. Disease onset is in infancy or early childhood. {ECO:0000269 PubMed:21376300, ECO:0000269 PubMed:25265257, ECO:0000269 PubMed:26125038, ECO:0000269 PubMed:26354034, ECO:0000269 PubMed:27034427, ECO:0000269 PubMed:31805580, ECO:0000269 PubMed:32096284}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for KIF1A
- Genetic Association Database
- (GAD)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for KIF1A Gene
Publications for KIF1A Gene
- KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations. (PMID: 22258533) Klebe S … Stevanin G (European journal of human genetics : EJHG 2012) 2 3 4 74
- KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia. (PMID: 31488895) Pennings M … Kamsteeg EJ (European journal of human genetics : EJHG 2020) 3 4 74
- Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis. (PMID: 26410750) Citterio A … Bassi MT (Journal of neurology 2015) 3 4 74
- De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy. (PMID: 25265257) Lee JR … Michaud JL (Human mutation 2015) 3 4 74
- Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia. (PMID: 25585697) Ylikallio E … Tyynismaa H (European journal of human genetics : EJHG 2015) 3 4 74
ExternalLinks
Products for KIF1A Gene
- Custom Antibody ServicesOriGene Antibodies for KIF1A
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for KIF1A
- Search Origene for MassSpec and Protein Over-expression Lysates for KIF1A
- Origene Custom Protein Services for KIF1A
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KIF1A
- Browse OriGene Inhibitory RNA Products For KIF1A
- OriGene qPCR primer pairs for KIF1A
- OriGene CRISPR knockouts for KIF1A
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For KIF1A
- Sino Biological Human cDNA Clone for KIF1A
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for KIF1A
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for KIF1A
- Abcam proteins for KIF1A
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Taconic Biosciences Mouse Models for KIF1A
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for KIF1A (AFLGC-KIF1A)
- VectorBuilder Custom and pre-made DNA vectors for KIF1A (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for KIF1A (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for KIF1A (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for KIF1A CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for KIF1A
- Addgene plasmids for KIF1A
- antibodies-online: Show 3 available KIF1A Antibodies ranked by validation data
- Compare Top KIF1A Antibodies
- antibodies-online: Show 5 available KIF1A Elisa Kits ranked by validation data
- Compare Top KIF1A Elisa Kits
- Quality Products:
- antibodies-online: Search results for available KIF1A related products ranked by validation data
- Horizon Cell Lines for KIF1A
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KIF1A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KIF1A
- Search GeneCopoeia for miRNA 3'UTR Target clone products for KIF1A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIF1A
Sources for KIF1A Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB