ATPAF1 (ATP synthase mitochondrial F1 complex assembly factor 1)

Gene

• Entrez ID: 64756
• Gene name: ATP synthase mitochondrial F1 complex assembly factor 1
• Gene symbol: ATPAF1
• Synonyms (NCBI Gene): ATP11, ATP11p
• Chromosome: 1
• Chromosome location: 1p33
• Summary: This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 beta subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. A

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020867	hsa-miR-155-5p	Proteomics	18668040
MIRT728248	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT728249	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT810166	hsa-let-7a	CLIP-seq
MIRT810167	hsa-let-7b	CLIP-seq
MIRT810168	hsa-let-7c	CLIP-seq
MIRT810169	hsa-let-7d	CLIP-seq
MIRT810170	hsa-let-7e	CLIP-seq
MIRT810171	hsa-let-7f	CLIP-seq
MIRT810172	hsa-let-7g	CLIP-seq
MIRT810173	hsa-let-7i	CLIP-seq
MIRT810174	hsa-miR-1228	CLIP-seq
MIRT810175	hsa-miR-1273c	CLIP-seq
MIRT810176	hsa-miR-128	CLIP-seq
MIRT810177	hsa-miR-1291	CLIP-seq
MIRT810178	hsa-miR-1301	CLIP-seq
MIRT810179	hsa-miR-1321	CLIP-seq
MIRT810180	hsa-miR-134	CLIP-seq
MIRT810181	hsa-miR-1972	CLIP-seq
MIRT810182	hsa-miR-202	CLIP-seq
MIRT810183	hsa-miR-217	CLIP-seq
MIRT810184	hsa-miR-24	CLIP-seq
MIRT810185	hsa-miR-27a	CLIP-seq
MIRT810186	hsa-miR-27b	CLIP-seq
MIRT810187	hsa-miR-28-5p	CLIP-seq
MIRT810188	hsa-miR-3118	CLIP-seq
MIRT810189	hsa-miR-3139	CLIP-seq
MIRT810190	hsa-miR-3159	CLIP-seq
MIRT810191	hsa-miR-3160-3p	CLIP-seq
MIRT810192	hsa-miR-3164	CLIP-seq
MIRT810193	hsa-miR-3165	CLIP-seq
MIRT810194	hsa-miR-3189-3p	CLIP-seq
MIRT810195	hsa-miR-3198	CLIP-seq
MIRT810196	hsa-miR-328	CLIP-seq
MIRT810197	hsa-miR-342-3p	CLIP-seq
MIRT810198	hsa-miR-3614-5p	CLIP-seq
MIRT810199	hsa-miR-3622a-5p	CLIP-seq
MIRT810200	hsa-miR-3670	CLIP-seq
MIRT810201	hsa-miR-3683	CLIP-seq
MIRT810202	hsa-miR-3689a-3p	CLIP-seq
MIRT810203	hsa-miR-3689c	CLIP-seq
MIRT810204	hsa-miR-3927	CLIP-seq
MIRT810205	hsa-miR-3935	CLIP-seq
MIRT810206	hsa-miR-4269	CLIP-seq
MIRT810207	hsa-miR-4270	CLIP-seq
MIRT810208	hsa-miR-4284	CLIP-seq
MIRT810209	hsa-miR-4309	CLIP-seq
MIRT810210	hsa-miR-4327	CLIP-seq
MIRT810211	hsa-miR-4418	CLIP-seq
MIRT810212	hsa-miR-4441	CLIP-seq
MIRT810213	hsa-miR-4451	CLIP-seq
MIRT810214	hsa-miR-4458	CLIP-seq
MIRT810215	hsa-miR-4500	CLIP-seq
MIRT810216	hsa-miR-450b-5p	CLIP-seq
MIRT810217	hsa-miR-4533	CLIP-seq
MIRT810218	hsa-miR-4645-5p	CLIP-seq
MIRT810219	hsa-miR-4650-5p	CLIP-seq
MIRT810220	hsa-miR-4653-3p	CLIP-seq
MIRT810221	hsa-miR-4673	CLIP-seq
MIRT810222	hsa-miR-4677-3p	CLIP-seq
MIRT810223	hsa-miR-4679	CLIP-seq
MIRT810224	hsa-miR-4687-3p	CLIP-seq
MIRT810225	hsa-miR-4728-5p	CLIP-seq
MIRT810226	hsa-miR-4739	CLIP-seq
MIRT810227	hsa-miR-4755-3p	CLIP-seq
MIRT810228	hsa-miR-4756-5p	CLIP-seq
MIRT810229	hsa-miR-4761-5p	CLIP-seq
MIRT810230	hsa-miR-4795-3p	CLIP-seq
MIRT810231	hsa-miR-500a	CLIP-seq
MIRT810232	hsa-miR-5047	CLIP-seq
MIRT810233	hsa-miR-509-3-5p	CLIP-seq
MIRT810234	hsa-miR-509-5p	CLIP-seq
MIRT810235	hsa-miR-518a-5p	CLIP-seq
MIRT810236	hsa-miR-527	CLIP-seq
MIRT810237	hsa-miR-564	CLIP-seq
MIRT810238	hsa-miR-593	CLIP-seq
MIRT810239	hsa-miR-625	CLIP-seq
MIRT810240	hsa-miR-626	CLIP-seq
MIRT810241	hsa-miR-647	CLIP-seq
MIRT810242	hsa-miR-656	CLIP-seq
MIRT810243	hsa-miR-708	CLIP-seq
MIRT810244	hsa-miR-98	CLIP-seq
MIRT810166	hsa-let-7a	CLIP-seq
MIRT810167	hsa-let-7b	CLIP-seq
MIRT810168	hsa-let-7c	CLIP-seq
MIRT810169	hsa-let-7d	CLIP-seq
MIRT810170	hsa-let-7e	CLIP-seq
MIRT810171	hsa-let-7f	CLIP-seq
MIRT810172	hsa-let-7g	CLIP-seq
MIRT810173	hsa-let-7i	CLIP-seq
MIRT810176	hsa-miR-128	CLIP-seq
MIRT810177	hsa-miR-1291	CLIP-seq
MIRT810245	hsa-miR-15a	CLIP-seq
MIRT810246	hsa-miR-15b	CLIP-seq
MIRT810247	hsa-miR-16	CLIP-seq
MIRT810248	hsa-miR-195	CLIP-seq
MIRT810249	hsa-miR-19a	CLIP-seq
MIRT810250	hsa-miR-19b	CLIP-seq
MIRT810182	hsa-miR-202	CLIP-seq
MIRT810185	hsa-miR-27a	CLIP-seq
MIRT810186	hsa-miR-27b	CLIP-seq
MIRT810187	hsa-miR-28-5p	CLIP-seq
MIRT810189	hsa-miR-3139	CLIP-seq
MIRT810196	hsa-miR-328	CLIP-seq
MIRT810200	hsa-miR-3670	CLIP-seq
MIRT810251	hsa-miR-3677-5p	CLIP-seq
MIRT810204	hsa-miR-3927	CLIP-seq
MIRT810205	hsa-miR-3935	CLIP-seq
MIRT810252	hsa-miR-424	CLIP-seq
MIRT810253	hsa-miR-431	CLIP-seq
MIRT810254	hsa-miR-4435	CLIP-seq
MIRT810214	hsa-miR-4458	CLIP-seq
MIRT810215	hsa-miR-4500	CLIP-seq
MIRT810230	hsa-miR-4795-3p	CLIP-seq
MIRT810255	hsa-miR-497	CLIP-seq
MIRT810231	hsa-miR-500a	CLIP-seq
MIRT810239	hsa-miR-625	CLIP-seq
MIRT810256	hsa-miR-643	CLIP-seq
MIRT810242	hsa-miR-656	CLIP-seq
MIRT810243	hsa-miR-708	CLIP-seq
MIRT810257	hsa-miR-759	CLIP-seq
MIRT810258	hsa-miR-891b	CLIP-seq
MIRT810259	hsa-miR-922	CLIP-seq
MIRT810244	hsa-miR-98	CLIP-seq
MIRT1545633	hsa-miR-3714	CLIP-seq
MIRT810176	hsa-miR-128	CLIP-seq
MIRT810185	hsa-miR-27a	CLIP-seq
MIRT810186	hsa-miR-27b	CLIP-seq
MIRT810187	hsa-miR-28-5p	CLIP-seq
MIRT810189	hsa-miR-3139	CLIP-seq
MIRT810200	hsa-miR-3670	CLIP-seq
MIRT810239	hsa-miR-625	CLIP-seq
MIRT810243	hsa-miR-708	CLIP-seq
MIRT810176	hsa-miR-128	CLIP-seq
MIRT810177	hsa-miR-1291	CLIP-seq
MIRT810185	hsa-miR-27a	CLIP-seq
MIRT810186	hsa-miR-27b	CLIP-seq
MIRT810187	hsa-miR-28-5p	CLIP-seq
MIRT810189	hsa-miR-3139	CLIP-seq
MIRT810196	hsa-miR-328	CLIP-seq
MIRT810197	hsa-miR-342-3p	CLIP-seq
MIRT810200	hsa-miR-3670	CLIP-seq
MIRT810239	hsa-miR-625	CLIP-seq
MIRT1939455	hsa-miR-642b	CLIP-seq
MIRT810243	hsa-miR-708	CLIP-seq
MIRT1939456	hsa-miR-4437	CLIP-seq
MIRT810166	hsa-let-7a	CLIP-seq
MIRT810167	hsa-let-7b	CLIP-seq
MIRT810168	hsa-let-7c	CLIP-seq
MIRT810169	hsa-let-7d	CLIP-seq
MIRT810170	hsa-let-7e	CLIP-seq
MIRT810171	hsa-let-7f	CLIP-seq
MIRT810172	hsa-let-7g	CLIP-seq
MIRT810173	hsa-let-7i	CLIP-seq
MIRT2178658	hsa-miR-1183	CLIP-seq
MIRT2178659	hsa-miR-1252	CLIP-seq
MIRT2178660	hsa-miR-1271	CLIP-seq
MIRT810176	hsa-miR-128	CLIP-seq
MIRT810177	hsa-miR-1291	CLIP-seq
MIRT2178661	hsa-miR-1299	CLIP-seq
MIRT810178	hsa-miR-1301	CLIP-seq
MIRT2178662	hsa-miR-1304	CLIP-seq
MIRT810179	hsa-miR-1321	CLIP-seq
MIRT2178663	hsa-miR-181a	CLIP-seq
MIRT2178664	hsa-miR-181b	CLIP-seq
MIRT2178665	hsa-miR-181c	CLIP-seq
MIRT2178666	hsa-miR-181d	CLIP-seq
MIRT810181	hsa-miR-1972	CLIP-seq
MIRT2178667	hsa-miR-21	CLIP-seq
MIRT2178668	hsa-miR-214	CLIP-seq
MIRT810185	hsa-miR-27a	CLIP-seq
MIRT810186	hsa-miR-27b	CLIP-seq
MIRT810187	hsa-miR-28-5p	CLIP-seq
MIRT2178669	hsa-miR-3120-3p	CLIP-seq
MIRT2178670	hsa-miR-3128	CLIP-seq
MIRT810189	hsa-miR-3139	CLIP-seq
MIRT2178671	hsa-miR-3145-3p	CLIP-seq
MIRT2178672	hsa-miR-3145-5p	CLIP-seq
MIRT810191	hsa-miR-3160-3p	CLIP-seq
MIRT810193	hsa-miR-3165	CLIP-seq
MIRT2178673	hsa-miR-3182	CLIP-seq
MIRT810194	hsa-miR-3189-3p	CLIP-seq
MIRT2178674	hsa-miR-3202	CLIP-seq
MIRT810196	hsa-miR-328	CLIP-seq
MIRT810198	hsa-miR-3614-5p	CLIP-seq
MIRT2178675	hsa-miR-3619-5p	CLIP-seq
MIRT2178676	hsa-miR-3622b-5p	CLIP-seq
MIRT810200	hsa-miR-3670	CLIP-seq
MIRT2178677	hsa-miR-3910	CLIP-seq
MIRT810204	hsa-miR-3927	CLIP-seq
MIRT2178678	hsa-miR-3974	CLIP-seq
MIRT2178679	hsa-miR-4262	CLIP-seq
MIRT810207	hsa-miR-4270	CLIP-seq
MIRT2178680	hsa-miR-4433	CLIP-seq
MIRT810212	hsa-miR-4441	CLIP-seq
MIRT810213	hsa-miR-4451	CLIP-seq
MIRT810214	hsa-miR-4458	CLIP-seq
MIRT810215	hsa-miR-4500	CLIP-seq
MIRT810217	hsa-miR-4533	CLIP-seq
MIRT810218	hsa-miR-4645-5p	CLIP-seq
MIRT2178681	hsa-miR-4651	CLIP-seq
MIRT2178682	hsa-miR-4659a-3p	CLIP-seq
MIRT2178683	hsa-miR-4659b-3p	CLIP-seq
MIRT810221	hsa-miR-4673	CLIP-seq
MIRT810226	hsa-miR-4739	CLIP-seq
MIRT810228	hsa-miR-4756-5p	CLIP-seq
MIRT810229	hsa-miR-4761-5p	CLIP-seq
MIRT2178684	hsa-miR-4782-5p	CLIP-seq
MIRT2178685	hsa-miR-4787-3p	CLIP-seq
MIRT810230	hsa-miR-4795-3p	CLIP-seq
MIRT2178686	hsa-miR-493	CLIP-seq
MIRT2178687	hsa-miR-498	CLIP-seq
MIRT810232	hsa-miR-5047	CLIP-seq
MIRT2178688	hsa-miR-508-5p	CLIP-seq
MIRT2178689	hsa-miR-516b	CLIP-seq
MIRT2178690	hsa-miR-526b	CLIP-seq
MIRT2178691	hsa-miR-543	CLIP-seq
MIRT2178692	hsa-miR-570	CLIP-seq
MIRT2178693	hsa-miR-590-5p	CLIP-seq
MIRT2178694	hsa-miR-606	CLIP-seq
MIRT2178695	hsa-miR-608	CLIP-seq
MIRT810239	hsa-miR-625	CLIP-seq
MIRT2178696	hsa-miR-644	CLIP-seq
MIRT2178697	hsa-miR-665	CLIP-seq
MIRT810243	hsa-miR-708	CLIP-seq
MIRT2178698	hsa-miR-761	CLIP-seq
MIRT2178699	hsa-miR-875-3p	CLIP-seq
MIRT2178700	hsa-miR-96	CLIP-seq
MIRT810244	hsa-miR-98	CLIP-seq
MIRT810176	hsa-miR-128	CLIP-seq
MIRT2384638	hsa-miR-1285	CLIP-seq
MIRT810185	hsa-miR-27a	CLIP-seq
MIRT810186	hsa-miR-27b	CLIP-seq
MIRT810187	hsa-miR-28-5p	CLIP-seq
MIRT2384639	hsa-miR-31	CLIP-seq
MIRT810189	hsa-miR-3139	CLIP-seq
MIRT2384640	hsa-miR-3187-5p	CLIP-seq
MIRT810200	hsa-miR-3670	CLIP-seq
MIRT2384641	hsa-miR-451b	CLIP-seq
MIRT2384642	hsa-miR-4696	CLIP-seq
MIRT2384643	hsa-miR-612	CLIP-seq
MIRT810239	hsa-miR-625	CLIP-seq
MIRT2384644	hsa-miR-661	CLIP-seq
MIRT810243	hsa-miR-708	CLIP-seq
MIRT2384645	hsa-miR-766	CLIP-seq
MIRT810166	hsa-let-7a	CLIP-seq
MIRT810167	hsa-let-7b	CLIP-seq
MIRT810168	hsa-let-7c	CLIP-seq
MIRT810169	hsa-let-7d	CLIP-seq
MIRT810170	hsa-let-7e	CLIP-seq
MIRT810171	hsa-let-7f	CLIP-seq
MIRT810172	hsa-let-7g	CLIP-seq
MIRT810173	hsa-let-7i	CLIP-seq
MIRT2482258	hsa-miR-1266	CLIP-seq
MIRT810179	hsa-miR-1321	CLIP-seq
MIRT2482259	hsa-miR-3122	CLIP-seq
MIRT2482260	hsa-miR-34b	CLIP-seq
MIRT810198	hsa-miR-3614-5p	CLIP-seq
MIRT2482261	hsa-miR-3664-3p	CLIP-seq
MIRT810251	hsa-miR-3677-5p	CLIP-seq
MIRT810202	hsa-miR-3689a-3p	CLIP-seq
MIRT810203	hsa-miR-3689c	CLIP-seq
MIRT2482262	hsa-miR-3913-5p	CLIP-seq
MIRT810204	hsa-miR-3927	CLIP-seq
MIRT2482263	hsa-miR-3973	CLIP-seq
MIRT2178678	hsa-miR-3974	CLIP-seq
MIRT810207	hsa-miR-4270	CLIP-seq
MIRT2482264	hsa-miR-4300	CLIP-seq
MIRT810254	hsa-miR-4435	CLIP-seq
MIRT810212	hsa-miR-4441	CLIP-seq
MIRT810213	hsa-miR-4451	CLIP-seq
MIRT810214	hsa-miR-4458	CLIP-seq
MIRT810215	hsa-miR-4500	CLIP-seq
MIRT2482265	hsa-miR-4518	CLIP-seq
MIRT2482266	hsa-miR-4633-3p	CLIP-seq
MIRT810226	hsa-miR-4739	CLIP-seq
MIRT810228	hsa-miR-4756-5p	CLIP-seq
MIRT2482267	hsa-miR-4796-3p	CLIP-seq
MIRT2482268	hsa-miR-520g	CLIP-seq
MIRT2482269	hsa-miR-520h	CLIP-seq
MIRT2482270	hsa-miR-579	CLIP-seq
MIRT2482271	hsa-miR-873	CLIP-seq
MIRT2482272	hsa-miR-920	CLIP-seq
MIRT810259	hsa-miR-922	CLIP-seq
MIRT810244	hsa-miR-98	CLIP-seq
MIRT2482259	hsa-miR-3122	CLIP-seq
MIRT810202	hsa-miR-3689a-3p	CLIP-seq
MIRT810203	hsa-miR-3689c	CLIP-seq
MIRT2482262	hsa-miR-3913-5p	CLIP-seq
MIRT2178678	hsa-miR-3974	CLIP-seq
MIRT2482264	hsa-miR-4300	CLIP-seq
MIRT2482266	hsa-miR-4633-3p	CLIP-seq
MIRT2482270	hsa-miR-579	CLIP-seq
MIRT2482272	hsa-miR-920	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	11410595, 28514442, 33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	ISS
GO:0016020	Component	Membrane	IEA
GO:0033615	Process	Mitochondrial proton-transporting ATP synthase complex assembly	IBA
GO:0033615	Process	Mitochondrial proton-transporting ATP synthase complex assembly	ISS
GO:0065003	Process	Protein-containing complex assembly	IEA
GO:0140777	Function	Protein-containing complex stabilizing activity	ISS

Other IDs

• MIM: 608917
• HGNC: 18803
• e!Ensembl: ENSG00000123472

Protein

• UniProt ID: Q5TC12
• Protein name: ATP synthase mitochondrial F1 complex assembly factor 1 (ATP11 homolog)
• Protein function: Has a complex stabilizing activity in the assembly of the mitochondrial F1-F0 complex.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06644	ATP11	65 → 307	ATP11 protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Weakly expressed in muscle. {ECO:0000269|PubMed:12965202}.
• Sequence:

  MAAVVVAAAGGAGPAVLQVAGLYRGLCAVRSRALGLGLVSPAQLRVFPVRPGSGRPEGGA
  DSSGVGAEAELQANPFYDRYRDKIQLLRRSDPAAFESRLEKRSEFRKQPVGHSRQGDFIK
  CVEQKTDALGKQSVNRGFTKDKTLSSIFNIEMVKEKTAEEIKQIWQQYFAAKDTVYAVIP
  AEKFDLIWNRAQSCPTFLCALPRREGYEFFVGQWTGTELHFTALINIQTRGEAAASQLIL
  YHYPELKEEKGIVLMTAEMDSTFLNVAEAQCIANQVQLFYATDRKETYGLVETFNLRPNE
  FKYMSVIAELEQSGLGAELKCAQNQNKT

• Sequence length: 328

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
OBESITY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SINUSITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Asthma	Asthma	BEFREE	21696813		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	21696813	Associate	★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	21696813		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	GWASDB_DG	21696813		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28672194		★☆☆☆☆ Found in Text Mining only
Isolated ATP synthase deficiency	Isolated ATP Synthase Deficiency	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Isolated ATP synthase deficiency	Isolated ATP Synthase Deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24885513		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	CTD_human_DG	20882379		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	BEFREE	24885513		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	38088732	Associate	★☆☆☆☆ Found in Text Mining only