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Q7Z4T9 (MAAT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 83. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein MAATS1
Alternative name(s):
AMY-1-associating protein expressed in testis 1
Short name=AAT-1
MYCBP/AMY-1-associated testis-expressed protein 1
Gene names
Name:MAATS1
Synonyms:AAT1, C3orf15
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length603 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Isoform 4 may play a role in spermatogenesis. Ref.1

Subunit structure

Interacts with MYCBP and AKAP1. Isoform 4 is part of a complex containing MYCBP, AKAP1 and PRKAR2B. Isoform 3 does not interact with MYCBP. Ref.1 Ref.7

Subcellular location

Cytoplasm. Mitochondrion. Note: Isoform 4 is found in the mitochondria and localized in the neck of the sperm.

Tissue specificity

Isoform 1 is strongly expressed in the liver. Isoform 4 is widely expressed, but strongly expressed in all spermatogenesis-related tissues, including the testis, the epithelium of cauda and the corpus epididymis, as well as the spermatid and mature sperm. Isoform 4 is also expressed in Leydig cells. Isoform 3 is expressed in the testis. Ref.7

Post-translational modification

Isoform 4 is phosphorylated by PKA. Ref.1

Ontologies

Keywords
   Cellular componentCytoplasm
Mitochondrion
   Coding sequence diversityAlternative promoter usage
Alternative splicing
Polymorphism
   DomainCoiled coil
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentmitochondrion

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Binary interactions

Alternative products

This entry describes 8 isoforms produced by alternative promoter usage and alternative splicing. [Align] [Select]

Note: Additional isoforms (AAT-1L and AAT-1S) may exist.
Isoform 1 (identifier: Q7Z4T9-1)

Also known as: AAT-1M;

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: Q7Z4T9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     229-238: RGLPAGQAEV → ELVNLLTIGR
     239-603: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q7Z4T9-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-67: MSHAVTIEEPQAQPQVSQTRYRERSRAGSHISSNRAYDFLYDPLFIVSSEKDHTQANIQATLIRSRL → MIFCT
     331-331: A → AKIQRTHVST...SNEEEEMEMA
Isoform 4 (identifier: Q7Z4T9-4)

Also known as: AAT1-alpha;

The sequence of this isoform differs from the canonical sequence as follows:
     1-505: Missing.
Note: May be produced by alternative promoter usage.
Isoform 6 (identifier: Q7Z4T9-6)

The sequence of this isoform differs from the canonical sequence as follows:
     1-126: Missing.
     331-331: A → AKIQRTHVST...SNEEEEMEMA
Isoform 7 (identifier: Q7Z4T9-7)

The sequence of this isoform differs from the canonical sequence as follows:
     331-331: A → AKIQRTHVST...SNEEEEMEMA
Isoform 8 (identifier: Q7Z4T9-8)

The sequence of this isoform differs from the canonical sequence as follows:
     1-41: MSHAVTIEEPQAQPQVSQTRYRERSRAGSHISSNRAYDFLY → MIFCTVRTAADLPLRPSPPRP
     331-331: A → AKIQRTHVST...SNEEEEMEMA
Isoform 5 (identifier: Q7Z4T9-5)

Also known as: AAT1-beta; AAT1-gamma;

The sequence of this isoform differs from the canonical sequence as follows:
     1-572: Missing.
Note: May be produced by alternative promoter usage.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 603603Protein MAATS1
PRO_0000064417

Regions

Coiled coil264 – 31047 Potential
Coiled coil367 – 43165 Potential
Coiled coil487 – 51933 Potential

Natural variations

Alternative sequence1 – 572572Missing in isoform 5.
VSP_014909
Alternative sequence1 – 505505Missing in isoform 4.
VSP_014908
Alternative sequence1 – 126126Missing in isoform 6.
VSP_039503
Alternative sequence1 – 6767MSHAV…IRSRL → MIFCT in isoform 3.
VSP_014907
Alternative sequence1 – 4141MSHAV…YDFLY → MIFCTVRTAADLPLRPSPPR P in isoform 8.
VSP_039504
Alternative sequence229 – 23810RGLPAGQAEV → ELVNLLTIGR in isoform 2.
VSP_014910
Alternative sequence239 – 603365Missing in isoform 2.
VSP_014911
Alternative sequence3311A → AKIQRTHVSTIRKLVGKRKN IEGKLERRNIIKDYSDYASQ VYGPLSRLGCFPDNNSEDFV VKNYYLNTYEGLVELESCLP DFVTQPQIRAPKPKVITTKA GFLKRAARLDYELAEVHKAL LDKKNKVLEVKKPPRFLQRN PIPQPRLPTPTLEMTSNEEE EMEMA in isoform 3, isoform 6, isoform 7 and isoform 8.
VSP_014912
Natural variant2071A → P. Ref.2 Ref.3 Ref.4 Ref.6
Corresponds to variant rs6438544 [ dbSNP | Ensembl ].
VAR_030243
Natural variant2531S → T.
Corresponds to variant rs9817771 [ dbSNP | Ensembl ].
VAR_030244
Natural variant3201S → C.
Corresponds to variant rs9819218 [ dbSNP | Ensembl ].
VAR_030245

Experimental info

Sequence conflict3111N → D in BAG51535. Ref.3
Sequence conflict3441V → I in AAP97317. Ref.2
Sequence conflict4601R → C in BAG51535. Ref.3
Sequence conflict4851D → A in CAH18098. Ref.4
Sequence conflict5161E → G in BAG63926. Ref.3
Isoform 7:
Sequence conflict3621K → R in BAF82603. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (AAT-1M) [UniParc].

Last modified July 13, 2010. Version 2.
Checksum: 9E12D39628531C85

FASTA60370,999
        10         20         30         40         50         60 
MSHAVTIEEP QAQPQVSQTR YRERSRAGSH ISSNRAYDFL YDPLFIVSSE KDHTQANIQA 

        70         80         90        100        110        120 
TLIRSRLRKV PRFKTMFSNL IHYPRYSLYW SKSDPVPPFI SREWKGHKEK HREALRQLTT 

       130        140        150        160        170        180 
TDASFQMPKE VYEDPEVTGK NRYKYFERPF LPFFQQMPFN VVYAVSKAEP YTFPPTSTKH 

       190        200        210        220        230        240 
LSIPSKSTVG TQTDYRDADV QTDPYSAEYV VCQDSIPELL TLATLTWGRG LPAGQAEVEM 

       250        260        270        280        290        300 
IERAREKRAW EASLPALSDT SQFEKRRKMM NEMERKEWAF REQEIEKLQE IRLEVLKELL 

       310        320        330        340        350        360 
RKREENQNEV NMKHLNARWS KLQEGKEAKM AVIYLQKLLR GRVVQNMMFE GKEKRLELIQ 

       370        380        390        400        410        420 
ELRTCHALQE DEKLVKKAEK QVTLALQRQR NLHEHKVSLV ENHLAGLEGR ALADMFDFLS 

       430        440        450        460        470        480 
KELVRLQEER RIHAFVMLAE RQRRVREAEE SGRRQVEKQR LREEDEIFKE VVKVHHSTIS 

       490        500        510        520        530        540 
SYLEDIILNT EANTAEEQAR AEIEKMAEKI NDIAYEMESR RTYLQSEEIV AELVYSFLIP 

       550        560        570        580        590        600 
EVQKYFVKEK VRNAQRKHIL AAHQIIHSYT ESMVQKKLTE GEQDEASNAA MLLEKETQNE 


NNS 

« Hide

Isoform 2 [UniParc].

Checksum: 3027802089EE0021
Show »

FASTA23827,681
Isoform 3 [UniParc].

Checksum: D1B7B755EB991FCD
Show »

FASTA70582,865
Isoform 4 (AAT1-alpha) [UniParc].

Checksum: 6A8756FFB5021B88
Show »

FASTA9811,450
Isoform 6 [UniParc].

Checksum: 20323F064BBBE3A7
Show »

FASTA64175,093
Isoform 7 [UniParc].

Checksum: 7EBE6F798C496845
Show »

FASTA76789,955
Isoform 8 [UniParc].

Checksum: C6B6FB166DEA3DA1
Show »

FASTA74787,525
Isoform 5 (AAT1-beta) (AAT1-gamma) [UniParc].

Checksum: 227F73754782900C
Show »

FASTA313,481

References

« Hide 'large scale' references
[1]"AAT-1, a novel testis-specific AMY-1-binding protein, forms a quaternary complex between AMY-1, A-kinase anchor protein 84 and a regulatory subunit of cAMP-dependent protein kinase and is phosphorylated by its kinase."
Yukitake H., Furusawa M., Taira T., Iguchi-Ariga S.M.M., Ariga H.
J. Biol. Chem. 277:45480-45492(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4 AND 5), FUNCTION, INTERACTION WITH MYCBP AND AKAP1, PHOSPHORYLATION.
Tissue: Testis.
[2]Guo J.H., Yu L.
Submitted (MAR-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT PRO-207.
Tissue: Lung.
[3]"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. expand/collapse author list , 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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 6; 7 AND 8), VARIANT PRO-207.
Tissue: Amygdala, Corpus callosum, Lung and Testis.
[4]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT PRO-207.
Tissue: Testis.
[5]"The DNA sequence, annotation and analysis of human chromosome 3."
Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. expand/collapse author list , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 7), VARIANT PRO-207.
Tissue: Lung.
[7]"Structure and characterization of AAT-1 isoforms."
Matsuda E., Ishizaki R., Taira T., Iguchi-Ariga S.M.M., Ariga H.
Biol. Pharm. Bull. 28:898-901(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: ALTERNATIVE SPLICING, INTERACTION WITH MYCBP, TISSUE SPECIFICITY (ISOFORM 1).
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB063296 mRNA. Translation: BAB60902.1.
AB063297 mRNA. Translation: BAB60903.1.
AB063298 mRNA. Translation: BAB60904.1.
AF440403 mRNA. Translation: AAP97317.1.
AF497717 mRNA. Translation: AAM19218.1.
AK055558 mRNA. Translation: BAG51535.1.
AK289914 mRNA. Translation: BAF82603.1.
AK294413 mRNA. Translation: BAG57663.1.
AK302699 mRNA. Translation: BAG63926.1.
CR749242 mRNA. Translation: CAH18098.1.
AC117466 Genomic DNA. No translation available.
AC069444 Genomic DNA. No translation available.
BC126394 mRNA. Translation: AAI26395.1.
RefSeqNP_203528.2. NM_033364.3.
UniGeneHs.341906.

3D structure databases

ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124630. 4 interactions.
IntActQ7Z4T9. 3 interactions.
STRING9606.ENSP00000273390.

PTM databases

PhosphoSiteQ7Z4T9.

Polymorphism databases

DMDM300669603.

Proteomic databases

PaxDbQ7Z4T9.
PRIDEQ7Z4T9.

Protocols and materials databases

DNASU89876.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000273390; ENSP00000273390; ENSG00000183833. [Q7Z4T9-7]
ENST00000463700; ENSP00000419489; ENSG00000183833. [Q7Z4T9-2]
GeneID89876.
KEGGhsa:89876.
UCSCuc003edc.2. human. [Q7Z4T9-2]
uc003ede.4. human. [Q7Z4T9-7]
uc010hqz.3. human. [Q7Z4T9-3]
uc011bjd.2. human. [Q7Z4T9-6]
uc011bje.2. human. [Q7Z4T9-8]

Organism-specific databases

CTD89876.
GeneCardsGC03P119422.
HGNCHGNC:24010. MAATS1.
HPAHPA035610.
MIM609910. gene.
neXtProtNX_Q7Z4T9.
PharmGKBPA134904689.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG84773.
HOVERGENHBG079422.
OMAREEDQIF.
OrthoDBEOG776SPK.
PhylomeDBQ7Z4T9.
TreeFamTF328648.

Gene expression databases

ArrayExpressQ7Z4T9.
BgeeQ7Z4T9.
CleanExHS_C3orf15.
GenevestigatorQ7Z4T9.

Family and domain databases

InterProIPR026720. AAT1.
[Graphical view]
PANTHERPTHR22455:SF11. PTHR22455:SF11. 1 hit.
ProtoNetSearch...

Other

GeneWikiC3orf15.
GenomeRNAi89876.
NextBio76384.
PROQ7Z4T9.
SOURCESearch...

Entry information

Entry nameMAAT1_HUMAN
AccessionPrimary (citable) accession number: Q7Z4T9
Secondary accession number(s): A0AVK2 expand/collapse secondary AC list , A8K1J9, B3KP23, B4DG52, B4DZ14, C9JUG4, Q68DX2, Q8TD41, Q96A45, Q96JE8
Entry history
Integrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: July 13, 2010
Last modified: April 16, 2014
This is version 83 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM