Gene table of MTPAP : mitochondrial poly(A) polymerase

Gene-disease associations table

Disease ID	Disease name	Source of annotation with MTPAP	OMIM link	Number of associated genes	genes
PS108600	SPASTIC ATAXIA	ClinVar, HUMSAVAR	link to OMIM	7	MTPAP, SACS, MTTP, AFG3L2, KIF1C, VAMP1, MARS2

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Annotation of the gene MTPAP

Associated genes in ENSEMBL

ENSG00000107951

Associated proteins - SwissProt Accession ID

Q9NVV4

Associated PDB IDs

3pq1

Cytogenetic Band

10p11.23

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
nucleic acid binding	GO:0003676	1.44
ATP binding	GO:0005524	2.43
pyrimidine nucleoside binding	GO:0001884	8.64
nucleotide binding	GO:0000166	1.96
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
cation binding	GO:0043169	1.4
transition metal ion binding	GO:0046914	2.48
magnesium ion binding	GO:0000287	4.41
polynucleotide adenylyltransferase activity	GO:0004652	7.66
ion binding	GO:0043167	1.36
transferase activity	GO:0016740	1.95
nucleoside phosphate binding	GO:1901265	1.96
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
metal ion binding	GO:0046872	1.41
poly(A) RNA binding	GO:0044822	2.69
identical protein binding	GO:0042802	2.63
protein homodimerization activity	GO:0042803	3.16
pyrimidine nucleotide binding	GO:0019103	7.95
manganese ion binding	GO:0030145	5.89
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
pyrimidine ribonucleotide binding	GO:0032557	8.35
UTP binding	GO:0002134	8.64
nucleotidyltransferase activity	GO:0016779	4.81
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
adenylyltransferase activity	GO:0070566	6.56
adenyl ribonucleotide binding	GO:0032559	2.41
RNA binding	GO:0003723	2.36
protein binding	GO:0005515	0.46
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
purine ribonucleotide binding	GO:0032555	2.2
protein dimerization activity	GO:0046983	2.72
pyrimidine ribonucleoside binding	GO:0032551	8.64
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19