A1Z1Q3 (MACD2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
MACRO domain-containing protein 2

Alternative name(s):
O-acetyl-ADP-ribose deacetylase
EC=3.5.1.-

Gene names

Name:	MACROD2
Synonyms:	C20orf133

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	448 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated lysine residues in histones and other proteins. Ref.6
Sequence similarities	Contains 1 Macro domain.
Biophysicochemical properties	Kinetic parameters: KM=107 µM for O-acetyl-ADP-ribose Ref.6
Sequence caution	The sequence BAD18504.1 differs from that shown. Reason: Frameshift at position 151.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Molecular function	Hydrolase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	purine nucleoside metabolic process Inferred from direct assay Ref.6. Source: UniProtKB
Molecular function	deacetylase activity Inferred from direct assay Ref.6. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: A1Z1Q3-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: A1Z1Q3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     411-433: Missing.

Note: No experimental confirmation available.

Isoform 4 (identifier: A1Z1Q3-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-235: Missing.

Note: No experimental confirmation available.

Isoform 5 (identifier: A1Z1Q3-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-235: Missing.
     411-433: Missing.

Note: No experimental confirmation available.

Isoform 6 (identifier: A1Z1Q3-6)

The sequence of this isoform differs from the canonical sequence as follows:
     1-349: Missing.
     434-434: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 448	448	MACRO domain-containing protein 2		PRO_0000300461
Regions
	Domain	59 – 240	182	Macro
	Region	185 – 191	7	Substrate binding By similarity
	Compositional bias	6 – 9	4	Poly-Lys
	Compositional bias	247 – 388	142	Glu-rich
Sites
	Active site	102	1	Proton acceptor Potential
Natural variations
	Alternative sequence	1 – 349	349	Missing in isoform 6.		VSP_035721
	Alternative sequence	1 – 235	235	Missing in isoform 4 and isoform 5.		VSP_035478
	Alternative sequence	411 – 433	23	Missing in isoform 2 and isoform 5.		VSP_027806
	Alternative sequence	434	1	Missing in isoform 6.		VSP_035722
	Natural variant	58	1	T → I. Ref.2 Corresponds to variant rs2990505 [ dbSNP | Ensembl ].		VAR_056935
	Natural variant	335	1	T → M. Corresponds to variant rs41275442 [ dbSNP | Ensembl ].		VAR_061681

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified February 6, 2007. Version 1. Checksum: A0E49D46E76161DB	FASTA	448	50,050
	10 20 30 40 50 60 MYPSNKKKKV WREEKERLLK MTLEERRKEY LRDYIPLNSI LSWKEEMKGK GQNDEENTQE 70 80 90 100 110 120 TSQVKKSLTE KVSLYRGDIT LLEVDAIVNA ANASLLGGGG VDGCIHRAAG PCLLAECRNL 130 140 150 160 170 180 NGCDTGHAKI TCGYDLPAKY VIHTVGPIAR GHINGSHKED LANCYKSSLK LVKENNIRSV 190 200 210 220 230 240 AFPCISTGIY GFPNEPAAVI ALNTIKEWLA KNHHEVDRII FCVFLEVDFK IYKKKMNEFF 250 260 270 280 290 300 SVDDNNEEEE DVEMKEDSDE NGPEEKQSVE EMEEQSQDAD GVNTVTVPGP ASEEAVEDCK 310 320 330 340 350 360 DEDFAKDENI TKGGEVTDHS VRDQDHPDGQ ENDSTKNEIK IETESQSSYM ETEELSSNQE 370 380 390 400 410 420 DAVIVEQPEV IPLTEDQEEK EGEKAPGEDT PRMPGKSEGS SDLENTPGPD VEMNSQVDKV 430 440 NDPTESQQED QLIAGAQDEA KEQRNGTK
	Isoform 2 [UniParc]. Checksum: 2CB614734EDB6314	FASTA	425	47,421
	10 20 30 40 50 60 MYPSNKKKKV WREEKERLLK MTLEERRKEY LRDYIPLNSI LSWKEEMKGK GQNDEENTQE 70 80 90 100 110 120 TSQVKKSLTE KVSLYRGDIT LLEVDAIVNA ANASLLGGGG VDGCIHRAAG PCLLAECRNL 130 140 150 160 170 180 NGCDTGHAKI TCGYDLPAKY VIHTVGPIAR GHINGSHKED LANCYKSSLK LVKENNIRSV 190 200 210 220 230 240 AFPCISTGIY GFPNEPAAVI ALNTIKEWLA KNHHEVDRII FCVFLEVDFK IYKKKMNEFF 250 260 270 280 290 300 SVDDNNEEEE DVEMKEDSDE NGPEEKQSVE EMEEQSQDAD GVNTVTVPGP ASEEAVEDCK 310 320 330 340 350 360 DEDFAKDENI TKGGEVTDHS VRDQDHPDGQ ENDSTKNEIK IETESQSSYM ETEELSSNQE 370 380 390 400 410 420 DAVIVEQPEV IPLTEDQEEK EGEKAPGEDT PRMPGKSEGS SDLENTPGPD AGAQDEAKEQ RNGTK
	Isoform 4 [UniParc]. Checksum: 6697DB0A302DA7DC	FASTA	213	23,616
	10 20 30 40 50 60 MNEFFSVDDN NEEEEDVEMK EDSDENGPEE KQSVEEMEEQ SQDADGVNTV TVPGPASEEA 70 80 90 100 110 120 VEDCKDEDFA KDENITKGGE VTDHSVRDQD HPDGQENDST KNEIKIETES QSSYMETEEL 130 140 150 160 170 180 SSNQEDAVIV EQPEVIPLTE DQEEKEGEKA PGEDTPRMPG KSEGSSDLEN TPGPDVEMNS 190 200 210 QVDKVNDPTE SQQEDQLIAG AQDEAKEQRN GTK
	Isoform 5 [UniParc]. Checksum: B631FBC82B66F388	FASTA	190	20,987
	10 20 30 40 50 60 MNEFFSVDDN NEEEEDVEMK EDSDENGPEE KQSVEEMEEQ SQDADGVNTV TVPGPASEEA 70 80 90 100 110 120 VEDCKDEDFA KDENITKGGE VTDHSVRDQD HPDGQENDST KNEIKIETES QSSYMETEEL 130 140 150 160 170 180 SSNQEDAVIV EQPEVIPLTE DQEEKEGEKA PGEDTPRMPG KSEGSSDLEN TPGPDAGAQD 190 EAKEQRNGTK
	Isoform 6 [UniParc]. Checksum: 797D03BFA265AC2C	FASTA	98	10,769
	10 20 30 40 50 60 METEELSSNQ EDAVIVEQPE VIPLTEDQEE KEGEKAPGED TPRMPGKSEG SSDLENTPGP 70 80 90 DVEMNSQVDK VNDPTESQQE DQLIGAQDEA KEQRNGTK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Homozygous deletions and chromosome amplifications in human pancreatic cancer cell lines identified using a single nucleotide polymorphism array." Lin L.-J., Asaoka Y., Tada M., Muroyama R., Tanaka Y., Ohta M., Seto M., Kanai F., Zheng C.-Q., Omata M. Submitted (DEC-2006) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Thymus.
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 5), VARIANT ILE-58. Tissue: Testis.
[3]	"The DNA sequence and comparative analysis of human chromosome 20." Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J. Nature 414:865-871(2001) [PubMed: 11780052] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 4 AND 6). Tissue: Lung.
[6]	"Identification of macrodomain proteins as novel O-acetyl-ADP-ribose deacetylases." Chen D., Vollmar M., Rossi M.N., Phillips C., Kraehenbuehl R., Slade D., Mehrotra P.V., von Delft F., Crosthwaite S.K., Gileadi O., Denu J.M., Ahel I. J. Biol. Chem. 286:13261-13271(2011) [PubMed: 21257746] [Abstract] Cited for: FUNCTION, CATALYTIC ACTIVITY, BIOPHYSICOCHEMICAL PROPERTIES.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	EF159161 mRNA. Translation: ABM46908.1. AK131348 mRNA. Translation: BAD18504.1. Frameshift. AK125899 mRNA. Translation: BAG54262.1. AC006198 Genomic DNA. No translation available. AL035073 Genomic DNA. No translation available. AL049867 Genomic DNA. No translation available. AL050324 Genomic DNA. No translation available. AL118503 Genomic DNA. No translation available. AL118510 Genomic DNA. No translation available. AL132826 Genomic DNA. No translation available. AL133462 Genomic DNA. No translation available. AL136992 Genomic DNA. No translation available. AL138808 Genomic DNA. No translation available. AL139825 Genomic DNA. No translation available. AL161800 Genomic DNA. No translation available. AL355133 Genomic DNA. No translation available. AL121582 , AL049633, AL079338, AL117333, AL121584, AL136991, AL158088, AL353798, AL354773, AL357654 Genomic DNA. Translation: CAH71976.2. AL353798 , AL049633, AL079338, AL117333, AL121582, AL121584, AL136991, AL158088, AL354773, AL357654 Genomic DNA. Translation: CAI16368.2. AL136991 , AL049633, AL079338, AL117333, AL121582, AL121584, AL158088, AL353798, AL354773, AL357654 Genomic DNA. Translation: CAM14046.1. AL121584 , AL049633, AL079338, AL117333, AL121582, AL136991, AL158088, AL353798, AL354773, AL357654 Genomic DNA. Translation: CAM18337.1. AL158088 , AL049633, AL079338, AL117333, AL121582, AL121584, AL136991, AL353798, AL354773, AL357654 Genomic DNA. Translation: CAM26942.1. AL357654 , AL049633, AL079338, AL117333, AL121582, AL121584, AL136991, AL158088, AL353798, AL354773 Genomic DNA. Translation: CAM27056.1. AL049633 , AL079338, AL117333, AL121582, AL121584, AL136991, AL158088, AL353798, AL354773, AL357654 Genomic DNA. Translation: CAM27329.1. AL117333 , AL049633, AL079338, AL121582, AL121584, AL136991, AL158088, AL353798, AL354773, AL357654 Genomic DNA. Translation: CAM28281.1. AL079338 , AL049633, AL117333, AL121582, AL121584, AL136991, AL158088, AL353798, AL354773, AL357654 Genomic DNA. Translation: CAM28328.1. AL354773 , AL049633, AL079338, AL117333, AL121582, AL121584, AL136991, AL158088, AL353798, AL357654 Genomic DNA. Translation: CAM28330.1. AL357654, AL079338, AL136991 Genomic DNA. Translation: CAQ06880.1. AL357654, AL136991 Genomic DNA. Translation: CAQ06881.1. AL079338, AL136991, AL357654 Genomic DNA. Translation: CAQ07295.1. AL136991, AL079338, AL357654 Genomic DNA. Translation: CAQ08720.1. AL136991, AL357654 Genomic DNA. Translation: CAQ08721.1. CH471133 Genomic DNA. Translation: EAX10293.1. CH471133 Genomic DNA. Translation: EAX10302.1. BC018687 mRNA. Translation: AAH18687.1. BC101216 mRNA. No translation available. BC101217 mRNA. No translation available. BC101218 mRNA. No translation available. BC101219 mRNA. No translation available. BC126936 mRNA. No translation available. BC035876 mRNA. No translation available.
IPI	IPI00827557. IPI00856020. IPI00893415. IPI00910543. IPI00914986.
RefSeq	NP_001028259.1. NM_001033087.1. NP_542407.2. NM_080676.5.
UniGene	Hs.661576.
3D structure databases
ProteinModelPortal	A1Z1Q3.
SMR	A1Z1Q3. Positions 8-242.
ModBase	Search...
Protein-protein interaction databases
STRING	A1Z1Q3.
PTM databases
PhosphoSite	A1Z1Q3.
Proteomic databases
PRIDE	A1Z1Q3.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000310348; ENSP00000309809; ENSG00000172264.
GeneID	140733.
KEGG	hsa:140733.
UCSC	uc002wot.1. human. uc002wou.1. human.
Organism-specific databases
CTD	140733.
GeneCards	GC20P013925.
HGNC	HGNC:16126. MACROD2.
MIM	611567. gene.
neXtProt	NX_A1Z1Q3.
Orphanet	2322. Kabuki syndrome.
PharmGKB	PA162394843.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG16375.
GeneTree	ENSGT00520000055566.
HOVERGEN	HBG099716.
InParanoid	A1Z1Q3.
OMA	GKSQNDE.
PhylomeDB	A1Z1Q3.
Gene expression databases
Bgee	A1Z1Q3.
CleanEx	HS_MACROD2.
Genevestigator	A1Z1Q3.
Family and domain databases
InterPro	IPR002589. A1pp. [Graphical view]
Pfam	PF01661. Macro. 1 hit. [Graphical view]
SMART	SM00506. A1pp. 1 hit. [Graphical view]
PROSITE	PS51154. MACRO. 1 hit. [Graphical view]
ProtoNet	Search...
Other
SOURCE	Search...

Entry information

Entry name

MACD2_HUMAN

Accession

Primary (citable) accession number: A1Z1Q3
Secondary accession number(s): A6NFF7 , B0QZ39, B3KWV0, Q0P6D5, Q495E0, Q5W199, Q6ZN71

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 11, 2007
Last sequence update:	February 6, 2007
Last modified:	December 14, 2011
This is version 41 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.