Q04656

PTMD Annotation Information

※ Protein Information

Tag	Content
UniProt Accession	ATP7A_HUMAN; Q04656;
Entrez ID	538
GenBank Protein ID	NM_000052.6; NM_001282224.1;
GenBank Nucleotide ID	NP_000043.4; NP_001269153.1;
Protein Name	Copper-transporting ATPase 1 (EC 3.6.3.54) (Copper pump 1) (Menkes disease-associated protein)
Gene Name	ATP7A; MC1; MNK
Organism	Homo sapiens
NCBI Taxa ID	9606
Functional Description	May supply copper to copper-requiring proteins within the secretory pathway, when localized in the trans-Golgi network. Under conditions of elevated extracellular copper, it relocalized to the plasma membrane where it functions in the efflux of copper from cells. Functional Description May supply copper to copper-requiring proteins within the secretory pathway, when localized in the trans-Golgi network. Under conditions of elevated extracellular copper, it relocalized to the plasma membrane where it functions in the efflux of copper from cells.
Sequence (Fasta)	MDPSMGVNSV TISVEGMTCN SCVWTIEQQI GKVNGVHHIK VSLEEKNATI IYDPKLQTPK 60 TLQEAIDDMG FDAVIHNPDP LPVLTDTLFL TVTASLTLPW DHIQSTLLKT KGVTDIKIYP 120 QKRTVAVTII PSIVNANQIK ELVPELSLDT GTLEKKSGAC EDHSMAQAGE VVLKMKVEGM 180 TCHSCTSTIE GKIGKLQGVQ RIKVSLDNQE ATIVYQPHLI SVEEMKKQIE AMGFPAFVKK 240 QPKYLKLGAI DVERLKNTPV KSSEGSQQRS PSYTNDSTAT FIIDGMHCKS CVSNIESTLS 300 ALQYVSSIVV SLENRSAIVK YNASSVTPES LRKAIEAVSP GLYRVSITSE VESTSNSPSS 360 SSLQKIPLNV VSQPLTQETV INIDGMTCNS CVQSIEGVIS KKPGVKSIRV SLANSNGTVE 420 YDPLLTSPET LRGAIEDMGF DATLSDTNEP LVVIAQPSSE MPLLTSTNEF YTKGMTPVQD 480 KEEGKNSSKC YIQVTGMTCA SCVANIERNL RREEGIYSIL VALMAGKAEV RYNPAVIQPP 540 MIAEFIRELG FGATVIENAD EGDGVLELVV RGMTCASCVH KIESSLTKHR GILYCSVALA 600 TNKAHIKYDP EIIGPRDIIH TIESLGFEAS LVKKDRSASH LDHKREIRQW RRSFLVSLFF 660 CIPVMGLMIY MMVMDHHFAT LHHNQNMSKE EMINLHSSMF LERQILPGLS VMNLLSFLLC 720 VPVQFFGGWY FYIQAYKALK HKTANMDVLI VLATTIAFAY SLIILLVAMY ERAKVNPITF 780 FDTPPMLFVF IALGRWLEHI AKGKTSEALA KLISLQATEA TIVTLDSDNI LLSEEQVDVE 840 LVQRGDIIKV VPGGKFPVDG RVIEGHSMVD ESLITGEAMP VAKKPGSTVI AGSINQNGSL 900 LICATHVGAD TTLSQIVKLV EEAQTSKAPI QQFADKLSGY FVPFIVFVSI ATLLVWIVIG 960 FLNFEIVETY FPGYNRSISR TETIIRFAFQ ASITVLCIAC PCSLGLATPT AVMVGTGVGA 1020 QNGILIKGGE PLEMAHKVKV VVFDKTGTIT HGTPVVNQVK VLTESNRISH HKILAIVGTA 1080 ESNSEHPLGT AITKYCKQEL DTETLGTCID FQVVPGCGIS CKVTNIEGLL HKNNWNIEDN 1140 NIKNASLVQI DASNEQSSTS SSMIIDAQIS NALNAQQYKV LIGNREWMIR NGLVINNDVN 1200 DFMTEHERKG RTAVLVAVDD ELCGLIAIAD TVKPEAELAI HILKSMGLEV VLMTGDNSKT 1260 ARSIASQVGI TKVFAEVLPS HKVAKVKQLQ EEGKRVAMVG DGINDSPALA MANVGIAIGT 1320 GTDVAIEAAD VVLIRNDLLD VVASIDLSRE TVKRIRINFV FALIYNLVGI PIAAGVFMPI 1380 GLVLQPWMGS AAMAASSVSV VLSSLFLKLY RKPTYESYEL PARSQIGQKS PSEISVHVGI 1440 DDTSRNSPKL GLLDRIVNYS RASINSLLSD KRSLNSVVTS EPDKHSLLVG DFREDDDTAL 1500 1501 Fasta Sequence >Q04656\|ATP7A; MC1; MNK\|Homo sapiens (Human) MDPSMGVNSVTISVEGMTCNSCVWTIEQQIGKVNGVHHIKVSLEEKNATIIYDPKLQTPKTLQEAIDDMGFDAVIHNPDPLPVLTDTLFLTVTASLTLPWDHIQSTLLKTKGVTDIKIYPQKRTVAVTIIPSIVNANQIKELVPELSLDTGTLEKKSGACEDHSMAQAGEVVLKMKVEGMTCHSCTSTIEGKIGKLQGVQRIKVSLDNQEATIVYQPHLISVEEMKKQIEAMGFPAFVKKQPKYLKLGAIDVERLKNTPVKSSEGSQQRSPSYTNDSTATFIIDGMHCKSCVSNIESTLSALQYVSSIVVSLENRSAIVKYNASSVTPESLRKAIEAVSPGLYRVSITSEVESTSNSPSSSSLQKIPLNVVSQPLTQETVINIDGMTCNSCVQSIEGVISKKPGVKSIRVSLANSNGTVEYDPLLTSPETLRGAIEDMGFDATLSDTNEPLVVIAQPSSEMPLLTSTNEFYTKGMTPVQDKEEGKNSSKCYIQVTGMTCASCVANIERNLRREEGIYSILVALMAGKAEVRYNPAVIQPPMIAEFIRELGFGATVIENADEGDGVLELVVRGMTCASCVHKIESSLTKHRGILYCSVALATNKAHIKYDPEIIGPRDIIHTIESLGFEASLVKKDRSASHLDHKREIRQWRRSFLVSLFFCIPVMGLMIYMMVMDHHFATLHHNQNMSKEEMINLHSSMFLERQILPGLSVMNLLSFLLCVPVQFFGGWYFYIQAYKALKHKTANMDVLIVLATTIAFAYSLIILLVAMYERAKVNPITFFDTPPMLFVFIALGRWLEHIAKGKTSEALAKLISLQATEATIVTLDSDNILLSEEQVDVELVQRGDIIKVVPGGKFPVDGRVIEGHSMVDESLITGEAMPVAKKPGSTVIAGSINQNGSLLICATHVGADTTLSQIVKLVEEAQTSKAPIQQFADKLSGYFVPFIVFVSIATLLVWIVIGFLNFEIVETYFPGYNRSISRTETIIRFAFQASITVLCIACPCSLGLATPTAVMVGTGVGAQNGILIKGGEPLEMAHKVKVVVFDKTGTITHGTPVVNQVKVLTESNRISHHKILAIVGTAESNSEHPLGTAITKYCKQELDTETLGTCIDFQVVPGCGISCKVTNIEGLLHKNNWNIEDNNIKNASLVQIDASNEQSSTSSSMIIDAQISNALNAQQYKVLIGNREWMIRNGLVINNDVNDFMTEHERKGRTAVLVAVDDELCGLIAIADTVKPEAELAIHILKSMGLEVVLMTGDNSKTARSIASQVGITKVFAEVLPSHKVAKVKQLQEEGKRVAMVGDGINDSPALAMANVGIAIGTGTDVAIEAADVVLIRNDLLDVVASIDLSRETVKRIRINFVFALIYNLVGIPIAAGVFMPIGLVLQPWMGSAAMAASSVSVVLSSLFLKLYRKPTYESYELPARSQIGQKSPSEISVHVGIDDTSRNSPKLGLLDRIVNYSRASINSLLSDKRSLNSVVTSEPDKHSLLVGDFREDDDTAL

※ PTM-Disease Association

Num	PTM	Disease	Cell Type	Type	PTM Site	PMID
1	Threonine Phosphorylation	Menkes disease	tumor tissue	N	T1048	22992316
1	[Reference]: The mutation affects a conserved DKTGT1048 phosphorylation motif that is involved in the catalytic activity of ATP7A

※ Disease Cross-ref Annotation

Database	Annotation
CTD (Curated) (count: 21) (view all)	MESH:D000740 ; Anemia MESH:D001019 ; Aortic Rupture MESH:D001259 ; Ataxia MESH:D003110 ; Colonic Neoplasms MESH:D004195 ; Disease Models, Animal MESH:D006130 ; Growth Disorders MESH:D006461 ; Hemolysis MESH:D006521 ; Hepatitis, Chronic MESH:D006976 ; Hypertension, Pulmonary MESH:D008114 ; Liver Neoplasms, Experimental MESH:D007706 ; Menkes Kinky Hair Syndrome MESH:D058426 ; Neointima MESH:D009461 ; Neurologic Manifestations MESH:C537860 ; Occipital horn syndrome MESH:D010243 ; Paralysis MESH:D049188 ; Prenatal Injuries MESH:D012008 ; Recurrence MESH:D012640 ; Seizures MESH:C564506 ; Spinal Muscular Atrophy, Distal, X-Linked 3 MESH:D014202 ; Tremor MESH:D057772 ; Vascular System Injuries
HGMD (count: 170) (view all)	CP942319; Menkes syndrome; Complex rearrangements CP995287; Menkes syndrome; Complex rearrangements CP091034; Menkes syndrome; Complex rearrangements CP985513; Menkes syndrome; Complex rearrangements CD972023; Menkes syndrome; Small deletions CD972029; Menkes syndrome; Small deletions CD962747; Menkes syndrome; Small deletions CD972024; Menkes syndrome; Small deletions CD011110; Menkes syndrome; Small deletions CD972027; Menkes syndrome; Small deletions CD942142; Menkes syndrome; Small deletions CD972021; Menkes syndrome; Small deletions CD011113; Menkes syndrome; Small deletions CD972034; Menkes syndrome; Small deletions CD972022; Menkes syndrome; Small deletions CD941604; Menkes syndrome; Small deletions CD972025; Menkes syndrome; Small deletions CD972020; Menkes syndrome; Small deletions CD972032; Menkes syndrome; Small deletions CD024033; Menkes syndrome; Small deletions CD000919; Occipital horn syndrome; Small deletions CD972031; Menkes syndrome; Small deletions CD962748; Menkes syndrome; Small deletions CD942141; Menkes syndrome; Small deletions CD972033; Menkes syndrome; Small deletions CD011111; Menkes syndrome; Small deletions CD012519; Occipital horn syndrome; Small deletions CD972030; Menkes syndrome; Small deletions CD082051; Menkes syndrome; Small deletions CD972026; Menkes syndrome; Small deletions CD024271; Menkes syndrome; Small deletions CD972028; Menkes syndrome; Small deletions CD011112; Menkes syndrome; Small deletions CG024808; Menkes syndrome; Gross deletions CG024809; Menkes syndrome; Gross deletions CG024810; Menkes syndrome; Gross deletions CG962806; Occipital horn syndrome; Gross deletions CG035117; Menkes syndrome; Gross deletions CG035118; Menkes syndrome; Gross deletions CG035119; Menkes syndrome; Gross deletions CG035120; Menkes syndrome; Gross deletions CG035121; Menkes syndrome; Gross deletions CG035122; Menkes syndrome; Gross deletions CG035123; Menkes syndrome; Gross deletions CG035124; Menkes syndrome; Gross deletions CG056906; Menkes syndrome; Gross deletions CG035125; Menkes syndrome; Gross deletions CG035126; Menkes syndrome; Gross deletions CG035127; Menkes syndrome; Gross deletions CG035128; Menkes syndrome; Gross deletions CG035129; Menkes syndrome; Gross deletions CG035133; Menkes syndrome; Gross deletions CG035134; Menkes syndrome; Gross deletions CG035135; Menkes syndrome; Gross deletions CG035136; Menkes syndrome; Gross deletions CG035137; Menkes syndrome; Gross deletions CG035130; Menkes syndrome; Gross deletions CG035131; Menkes syndrome; Gross deletions CG035132; Menkes syndrome; Gross deletions CG035138; Menkes syndrome; Gross deletions CG035139; Menkes syndrome; Gross deletions CG035140; Menkes syndrome; Gross deletions CG035141; Menkes syndrome; Gross deletions CG035142; Menkes syndrome; Gross deletions CG035143; Menkes syndrome; Gross deletions CG035144; Menkes syndrome; Gross deletions CG035145; Menkes syndrome; Gross deletions CG035146; Menkes syndrome; Gross deletions CG024811; Menkes syndrome; Gross deletions CG035147; Menkes syndrome; Gross deletions CG035148; Menkes syndrome; Gross deletions CG035149; Menkes syndrome; Gross deletions CG035150; Menkes syndrome; Gross deletions CG024812; Menkes syndrome; Gross deletions CG035151; Menkes syndrome; Gross deletions CG035152; Menkes syndrome; Gross deletions CG035153; Menkes syndrome; Gross deletions CG015432; Menkes syndrome; Gross deletions CG931264; Menkes syndrome; Gross deletions CG931265; Menkes syndrome; Gross deletions CG942150; Menkes syndrome; Gross deletions CN072786; Menkes syndrome; Gross insertions CP015760; Menkes syndrome; Small indels CI972543; Menkes syndrome; Small insertions CI011221; Menkes syndrome; Small insertions CI972545; Menkes syndrome; Small insertions CI994341; Menkes syndrome; Small insertions CI972546; Menkes syndrome; Small insertions CI972544; Menkes syndrome; Small insertions CI991979; Menkes syndrome; Small insertions CI011220; Menkes syndrome; Small insertions CI942082; Menkes syndrome; Small insertions CI972547; Menkes syndrome; Small insertions CM090721; Menkes syndrome; Missense/nonsense CM942029; Menkes syndrome; Missense/nonsense CM090720; Menkes syndrome; Missense/nonsense CM970124; Menkes syndrome; Missense/nonsense CM010775; Menkes syndrome; Missense/nonsense CM010776; Menkes syndrome; Missense/nonsense CM970125; Menkes syndrome; Missense/nonsense CM090723; Menkes syndrome; Missense/nonsense CM970126; Menkes syndrome; Missense/nonsense CM970127; Menkes syndrome; Missense/nonsense CM940140; Menkes syndrome; Missense/nonsense CM012729; Menkes syndrome; Missense/nonsense CM970128; Menkes syndrome; Missense/nonsense CM012730; Menkes syndrome; Missense/nonsense CM003412; Menkes syndrome; Missense/nonsense CM970129; Menkes syndrome; Missense/nonsense CM970130; Menkes syndrome; Missense/nonsense CM023882; Menkes syndrome; Missense/nonsense CM053106; Menkes syndrome; Missense/nonsense CM053100; Menkes syndrome; Missense/nonsense CM053101; Menkes syndrome; Missense/nonsense CM053116; Menkes syndrome; Missense/nonsense CM994321; Menkes syndrome; Missense/nonsense CM053102; Menkes syndrome; Missense/nonsense CM053113; Menkes syndrome; Missense/nonsense CM970131; Menkes syndrome; Missense/nonsense CM970132; Menkes syndrome; Missense/nonsense CM053104; Menkes syndrome; Missense/nonsense CM970133; Menkes syndrome; Missense/nonsense CM010777; Menkes syndrome; Missense/nonsense CM010778; Menkes syndrome; Missense/nonsense CM053103; Menkes syndrome; Missense/nonsense CM970134; Menkes syndrome; Missense/nonsense CM053110; Menkes syndrome; Missense/nonsense CM053115; Menkes syndrome; Missense/nonsense CM970135; Menkes syndrome; Missense/nonsense CM053109; Menkes syndrome; Missense/nonsense CM970136; Menkes syndrome; Missense/nonsense CM053107; Menkes syndrome; Missense/nonsense CM012731; Menkes syndrome; Missense/nonsense CM012732; Menkes syndrome; Missense/nonsense CM055905; Menkes syndrome; Missense/nonsense CM053105; Menkes syndrome; Missense/nonsense CM014888; Menkes syndrome; Missense/nonsense CM053111; Menkes syndrome; Missense/nonsense CM053112; Menkes syndrome; Missense/nonsense CM940141; Menkes syndrome; Missense/nonsense CM067344; Occipital horn syndrome; Missense/nonsense CM053099; Menkes syndrome; Missense/nonsense CM053108; Menkes syndrome; Missense/nonsense CM053114; Menkes syndrome; Missense/nonsense CM043811; Menkes syndrome; Missense/nonsense CM984572; Menkes syndrome; Missense/nonsense CM990274; Menkes syndrome; Missense/nonsense CM053118; Menkes syndrome; Missense/nonsense CM090722; Menkes syndrome; Missense/nonsense CM053117; Menkes syndrome; Missense/nonsense CS982083; Occipital horn syndrome; Splicing CS941424; Menkes syndrome; Splicing CS971618; Menkes syndrome; Splicing CS952193; Occipital horn syndrome; Splicing CS952194; Occipital horn syndrome; Splicing CS942076; Menkes syndrome; Splicing CS941425; Menkes syndrome; Splicing CS056080; Menkes syndrome; Splicing CS971619; Menkes syndrome; Splicing CS000847; Menkes syndrome; Splicing CS000848; Menkes syndrome; Splicing CS971612; Menkes syndrome; Splicing CS971613; Menkes syndrome; Splicing CS971614; Menkes syndrome; Splicing CS971615; Menkes syndrome; Splicing CS971616; Menkes syndrome; Splicing CS942075; Menkes syndrome; Splicing CS971617; Menkes syndrome; Splicing CS994331; Menkes syndrome; Splicing CS952228; Menkes syndrome; Splicing
GWASdb (count: 2)	rs2227291; Drug response to Docetaxel; Null rs2227291; Drug response to Thalidomide; Null

※ PTM Sites

PTM	Modification Sites
Phosphorylation (count: 64) (view all)	1146 DNNIKNASLVQIDAS dbPAF 1204 NDVNDFMTEHERKGR dbPAF 1212 EHERKGRTAVLVAVD dbPAF 1306 VGDGINDSPALAMAN dbPAF 1417 YRKPTYESYELPARS dbPAF 1418 RKPTYESYELPARSQ dbPAF 1430 RSQIGQKSPSEISVH dbPAF 1432 QIGQKSPSEISVHVG dbPAF 1435 QKSPSEISVHVGIDD dbPAF 1443 VHVGIDDTSRNSPKL dbPAF 1444 HVGIDDTSRNSPKLG dbPAF 1447 IDDTSRNSPKLGLLD dbPAF 1459 LLDRIVNYSRASINS dbPAF 1460 LDRIVNYSRASINSL dbPAF 1463 IVNYSRASINSLLSD dbPAF 1466 YSRASINSLLSDKRS dbPAF 1469 ASINSLLSDKRSLNS dbPAF 147 KELVPELSLDTGTLE dbPAF 1473 SLLSDKRSLNSVVTS dbPAF 1476 SDKRSLNSVVTSEPD dbPAF 1479 RSLNSVVTSEPDKHS dbPAF 1480 SLNSVVTSEPDKHSL dbPAF 1486 TSEPDKHSLLVGDFR dbPAF 150 VPELSLDTGTLEKKS dbPAF 152 ELSLDTGTLEKKSGA dbPAF 244 FVKKQPKYLKLGAID dbPAF 262 LKNTPVKSSEGSQQR dbPAF 263 KNTPVKSSEGSQQRS dbPAF 266 PVKSSEGSQQRSPSY dbPAF 270 SEGSQQRSPSYTNDS dbPAF 272 GSQQRSPSYTNDSTA dbPAF 273 SQQRSPSYTNDSTAT dbPAF 274 QQRSPSYTNDSTATF dbPAF 277 SPSYTNDSTATFIID dbPAF 278 PSYTNDSTATFIIDG dbPAF 321 NRSAIVKYNASSVTP dbPAF 325 IVKYNASSVTPESLR dbPAF 327 KYNASSVTPESLRKA dbPAF 330 ASSVTPESLRKAIEA dbPAF 339 RKAIEAVSPGLYRVS dbPAF 343 EAVSPGLYRVSITSE dbPAF 346 SPGLYRVSITSEVES dbPAF 349 LYRVSITSEVESTSN dbPAF 353 SITSEVESTSNSPSS dbPAF 354 ITSEVESTSNSPSSS dbPAF 355 TSEVESTSNSPSSSS dbPAF 357 EVESTSNSPSSSSLQ dbPAF 359 ESTSNSPSSSSLQKI dbPAF 360 STSNSPSSSSLQKIP dbPAF 361 TSNSPSSSSLQKIPL dbPAF 362 SNSPSSSSLQKIPLN dbPAF 427 EYDPLLTSPETLRGA dbPAF 471 LTSTNEFYTKGMTPV dbPAF 476 EFYTKGMTPVQDKEE dbPAF 517 LRREEGIYSILVALM dbPAF 518 RREEGIYSILVALMA dbPAF 594 TKHRGILYCSVALAT dbPAF 601 YCSVALATNKAHIKY dbPAF 743 YKALKHKTANMDVLI dbPAF 754 DVLIVLATTIAFAYS dbPAF 755 VLIVLATTIAFAYSL dbPAF 761 TTIAFAYSLIILLVA dbPAF 770 IILLVAMYERAKVNP dbPAF 827 ATIVTLDSDNILLSE dbPAF
Ubiquitination (count: 3)	1471 INSLLSDKRSLNSVV PLMD 333 VTPESLRKAIEAVSP PLMD 855 IKVVPGGKFPVDGRV PLMD
Glycation (count: 2)	1072 SNRISHHKILAIVGT PLMD 849 VQRGDIIKVVPGGKF PLMD

※ Protein-Protein Interaction

Network

Interaction

A

B

Source

O00244	Q04656	HPRD
P00450	Q04656	HPRD
P50748	Q04656	BioGRID
Q04656	Q5EBL8	HPRD; MINT