Gene table of KIF1A : kinesin family member 1A

Gene-disease associations table

Disease ID	Disease name	Source of annotation with KIF1A	OMIM link	Number of associated genes	genes
PS156200	MENTAL RETARDATION, AUTOSOMAL DOMINANT	ClinVar, OMIM, HUMSAVAR	link to OMIM	44	EHMT1, MEF2C, AHDC1, SOX11, CDH15, KIRREL3, EEF1A2, KAT6A, ZMYND11, ARID1A, KMT2C, PPP2R5D, DYNC1H1, GRIN1, CTCF, SETD5, NR1I3, PACS1, DPP6, DEAF1, KIF1A, SYNGAP1, PURA, POGZ, EPB41L1, PPP2R1A, AUTS2, CTNNB1, ARID1B, ZBTB18, CACNG2, MBD5, SMARCB1, KANSL1, SMARCE1, COL4A3BP, MYT1L, ADNP, SMARCA4, GATAD2B, SETBP1, GRIN2B, CHAMP1, DYRK1A
PS162400	HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY	ClinVar, OMIM	link to OMIM	14	DST, WNK1, NTRK1, PRDM12, DNMT1, IKBKAP, FAM134B, NGF, ATL1, KIF1A, SCN11A, ATL3, SPTLC2, SPTLC1
PS303350	SPASTIC PARAPLEGIA	ClinVar, OMIM	link to OMIM	47	KIF5A, ATL1, C12orf65, IBA57, GJC2, GBA2, KIAA0196, ZFYVE26, ARL6IP1, ENTPD1, AP4E1, B4GALNT1, DDHD2, C19orf12, AP5Z1, SPG11, SLC33A1, MAG, VPS37A, L1CAM, TFG, RTN2, CYP7B1, ERLIN2, KIF1A, AP4M1, AMPD2, SPAST, SPG20, AP4S1, HSPD1, SPG21, PLP1, REEP1, ALDH18A1, TECPR2, BSCL2, PNPLA6, SPG7, CYP2U1, NT5C2, NIPA1, DDHD1, CPT1C, ZFYVE27, AP4B1, FA2H

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
purine ribonucleoside triphosphate binding	GO:0035639	2.22
binding	GO:0005488	0.18
ATPase activity	GO:0016887	3.65
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
nucleotide binding	GO:0000166	1.96
nucleoside phosphate binding	GO:1901265	1.96
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
motor activity	GO:0003774	4.81
microtubule motor activity	GO:0003777	5.34
hydrolase activity	GO:0016787	1.9
tubulin binding	GO:0015631	4.1
microtubule binding	GO:0008017	4.42
nucleoside-triphosphatase activity	GO:0017111	3.09
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
cytoskeletal protein binding	GO:0008092	3.02
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
pyrophosphatase activity	GO:0016462	3.04
adenyl ribonucleotide binding	GO:0032559	2.41
ATP binding	GO:0005524	2.43
protein binding	GO:0005515	0.46
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19