Kif1a MGI Mouse Gene Detail - MGI:108391 - kinesin family member 1A

Symbol

Kif1a
Name

kinesin family member 1A
Synonyms

ATSV, C630002N23Rik, Kns1, LOC381283, N-3 kinesin

Feature Type

protein coding gene
IDs

MGI:108391
NCBI Gene: 16560
Alliance

gene page
Transcription Start Sites

15 TSS

Sequence Map

Chr1:92943186-93029673 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 46.74 cM, cytoband E1-E2
Mapping Data

3 experiments

SNPs within 2kb

2241 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_108391	protein coding gene	Chr1:92943180-93029760 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0016333	protein coding gene	Chr1:94622044-94714657 (-)
A/J	MGP_AJ_G0016314	protein coding gene	Chr1:91234859-91321790 (-)
AKR/J	MGP_AKRJ_G0016275	protein coding gene	Chr1:93922130-94011596 (-)
BALB/cJ	MGP_BALBcJ_G0016270	protein coding gene	Chr1:91413477-91499697 (-)
C3H/HeJ	MGP_C3HHeJ_G0016099	protein coding gene	Chr1:94176956-94272902 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0016729	protein coding gene	Chr1:98216446-98309590 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014447	protein coding gene	Chr1:85485249-85573648 (-)
CAST/EiJ	MGP_CASTEiJ_G0015682	protein coding gene	Chr1:93508838-93599477 (-)
CBA/J	MGP_CBAJ_G0016073	protein coding gene	Chr1:101409909-101502229 (-)
DBA/2J	MGP_DBA2J_G0016178	protein coding gene	Chr1:90433354-90519950 (-)
FVB/NJ	MGP_FVBNJ_G0016177	protein coding gene	Chr1:89497872-89586956 (-)
LP/J	MGP_LPJ_G0016249	protein coding gene	Chr1:95806288-95897145 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016202	protein coding gene	Chr1:104531092-104623124 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016768	protein coding gene	Chr1:93950401-94039879 (-)
PWK/PhJ	MGP_PWKPhJ_G0015467	protein coding gene	Chr1:89863926-89953742 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0015251	protein coding gene	Chr1:92884618-92977605 (-)
WSB/EiJ	MGP_WSBEiJ_G0015742	protein coding gene	Chr1:93759483-93851934 (-)

Human Ortholog

KIF1A, kinesin family member 1A

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

KIF1A, kinesin family member 1A
Synonyms

ATSV, C2orf20, HSN2C, MRD9, NESCAVS, SPG30, SPG30A, SPG30B, UNC104
Links

HGNC:888

NCBI Gene ID: 547

neXtProt AC: NX_Q12756

UniProt: Q12756
Chr Location

2q37.3; chr2:240713761-240824293 (-) GRCh38

MGI Vertebrate Homology

Kif1a stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: KIF1A
Gene Tree

Kif1a

Diseases

1 with Kif1a mouse models; 5 with human KIF1A associations

Human Disease

Mouse Models

hereditary spastic paraplegia 30

IDs

View 2 models

hereditary sensory neuropathy

IDs

hereditary sensory neuropathy type 2C

IDs

hereditary spastic paraplegia

IDs

NESCAV syndrome

IDs

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

2 with disease annotations

References

1 with disease annotations

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Phenotype Summary

21 phenotypes from 3 alleles in 3 genetic backgrounds
3 images
15 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

11
Chemically induced (other)

1
Endonuclease-mediated

3
Gene trapped

1
Radiation induced

1
Spontaneous

2
Targeted

3
Genomic Mutations

2 involving Kif1a
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

95 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Most mice homozygous for a null allele die within a day of birth, with reduced motor and sensory deficits, decreased synaptic vesicle precursor transport, and significant neuronal degeneration in the central nervous system, but two point mutant alleles cause progressive hindleg paralysis

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All GO Annotations

46
GO References

11

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

901
Tissues

48
cDNA Data

337
Literature Summary

9

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase kif1a

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All Sequences

94
RefSeq

26
UniProt

15
CCDS

CCDS48326.1, CCDS48327.1, CCDS78651.1, CCDS78652.1

Ensembl

ENSMUSG00000014602 (Evidence)
NCBI Gene

16560

			Length	Strain/Species	Flank
genomic	ENSMUSG00000014602	Ensembl Gene Model \| MGI Sequence Detail	86488	C57BL/6J	± kb
transcript	ENSMUST00000190723	Ensembl \| MGI Sequence Detail	6141	Not Applicable
polypeptide	ENSMUSP00000140163	Ensembl \| MGI Sequence Detail	1791	Not Applicable

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UniProt

15 Sequences
Protein Ontology

PR:000009295 kinesin-like protein KIF1A

(term hierarchy)
PDB

1I5S, 1I6I, 1IA0, 1VFV, 1VFW, 1VFX, 1VFZ, 2HXF, 2HXH, 2ZFI, 2ZFJ, 2ZFK, 2ZFL, 2ZFM, 7EO9, 7EOB
InterPro Domains

IPR000253 Forkhead-associated (FHA) domain

IPR032405 Kinesin-associated

IPR022164 Kinesin-like

IPR022140 Kinesin-like KIF1-type

IPR049780 Kinesin-like protein KIF1A/B, pleckstrin homology domain

IPR049779 Kinesin-like protein KIF1A, forkhead associated domain

IPR001752 Kinesin motor domain

IPR019821 Kinesin motor domain, conserved site

IPR036961 Kinesin motor domain superfamily

IPR011993 PH-like domain superfamily

IPR001849 Pleckstrin homology domain

IPR027417 P-loop containing nucleoside triphosphate hydrolase

IPR008984 SMAD/FHA domain superfamily
GlyGen

P33173 4 sites, 3 N-linked glycans (3 sites), 1 O-linked glycan (1 site)

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All nucleic 339

cDNA 337

Primer pair 2

Microarray probesets 4

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MGD-MRK-11590, MGD-MRK-37431, MGI:2686472

Summaries

All 60

Developmental Gene Expression 9

Diseases 1

Gene Ontology 11

Phenotypes 15
Earliest

J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
Latest

J:346892 Pedersen TJ, et al., The effect of aquaporin-4 mis-localization on Abeta deposition in mice. Neurobiol Dis. 2023 Mar 27;181:106100

TSS for Kif1a:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr13007	Chr1:93029576-93029601 (-)	84 bp
Tssr13006	Chr1:93029547-93029571 (-)	114 bp
Tssr13005	Chr1:93029532-93029543 (-)	135 bp
Tssr13004	Chr1:93011693-93011696 (-)	17,978 bp
Tssr13003	Chr1:93003965-93003977 (-)	25,702 bp
Tssr13002	Chr1:93003948-93003960 (-)	25,719 bp
Tssr13001	Chr1:93003919-93003930 (-)	25,748 bp
Tssr13000	Chr1:93000813-93000826 (-)	28,853 bp
Tssr12999	Chr1:92998734-92998743 (-)	30,934 bp
Tssr12998	Chr1:92996401-92996441 (-)	33,252 bp
Tssr12997	Chr1:92950863-92950875 (-)	78,804 bp
Tssr12996	Chr1:92950793-92950842 (-)	78,855 bp
Tssr12995	Chr1:92943801-92943813 (-)	85,866 bp
Tssr12994	Chr1:92943771-92943787 (-)	85,894 bp
Tssr12993	Chr1:92943694-92943770 (-)	85,941 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 10/29/2024 MGI 6.24