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Q7Z4T9

- MAAT1_HUMAN

UniProt

Q7Z4T9 - MAAT1_HUMAN

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Protein
Protein MAATS1
Gene
MAATS1, AAT1, C3orf15
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Isoform 4 may play a role in spermatogenesis.1 Publication

GO - Molecular functioni

  1. protein binding Source: IntAct
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:MAATS1
Synonyms:AAT1, C3orf15
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:24010. MAATS1.

Subcellular locationi

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

GO - Cellular componenti

  1. mitochondrion Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Mitochondrion

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134904689.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 603603Protein MAATS1
PRO_0000064417Add
BLAST

Post-translational modificationi

Isoform 4 is phosphorylated by PKA.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ7Z4T9.
PRIDEiQ7Z4T9.

PTM databases

PhosphoSiteiQ7Z4T9.

Expressioni

Tissue specificityi

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.1 Publication

Gene expression databases

ArrayExpressiQ7Z4T9.
BgeeiQ7Z4T9.
CleanExiHS_C3orf15.
GenevestigatoriQ7Z4T9.

Organism-specific databases

HPAiHPA035610.

Interactioni

Subunit structurei

Interacts with MYCBP and AKAP1. Isoform 4 is part of a complex containing MYCBP, AKAP1 and PRKAR2B. Isoform 3 does not interact with MYCBP.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
AKAP1Q92667-23EBI-2119735,EBI-2120060
MYCBPQ994175EBI-2119735,EBI-716185

Protein-protein interaction databases

BioGridi124630. 4 interactions.
IntActiQ7Z4T9. 3 interactions.
STRINGi9606.ENSP00000273390.

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili264 – 31047 Reviewed prediction
Add
BLAST
Coiled coili367 – 43165 Reviewed prediction
Add
BLAST
Coiled coili487 – 51933 Reviewed prediction
Add
BLAST

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG84773.
HOVERGENiHBG079422.
OMAiREEDQIF.
OrthoDBiEOG776SPK.
PhylomeDBiQ7Z4T9.
TreeFamiTF328648.

Family and domain databases

InterProiIPR026720. MAATS1.
[Graphical view]
PANTHERiPTHR22455:SF10. PTHR22455:SF10. 1 hit.

Sequences (8)i

Sequence statusi: Complete.

This entry describes 8 isoformsi produced by alternative promoter usage and alternative splicing. Align

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

Isoform 1 (identifier: Q7Z4T9-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MSHAVTIEEP QAQPQVSQTR YRERSRAGSH ISSNRAYDFL YDPLFIVSSE    50
KDHTQANIQA TLIRSRLRKV PRFKTMFSNL IHYPRYSLYW SKSDPVPPFI 100
SREWKGHKEK HREALRQLTT TDASFQMPKE VYEDPEVTGK NRYKYFERPF 150
LPFFQQMPFN VVYAVSKAEP YTFPPTSTKH LSIPSKSTVG TQTDYRDADV 200
QTDPYSAEYV VCQDSIPELL TLATLTWGRG LPAGQAEVEM IERAREKRAW 250
EASLPALSDT SQFEKRRKMM NEMERKEWAF REQEIEKLQE IRLEVLKELL 300
RKREENQNEV NMKHLNARWS KLQEGKEAKM AVIYLQKLLR GRVVQNMMFE 350
GKEKRLELIQ ELRTCHALQE DEKLVKKAEK QVTLALQRQR NLHEHKVSLV 400
ENHLAGLEGR ALADMFDFLS KELVRLQEER RIHAFVMLAE RQRRVREAEE 450
SGRRQVEKQR LREEDEIFKE VVKVHHSTIS SYLEDIILNT EANTAEEQAR 500
AEIEKMAEKI NDIAYEMESR RTYLQSEEIV AELVYSFLIP EVQKYFVKEK 550
VRNAQRKHIL AAHQIIHSYT ESMVQKKLTE GEQDEASNAA MLLEKETQNE 600
NNS 603
Length:603
Mass (Da):70,999
Last modified:July 13, 2010 - v2
Checksum:i9E12D39628531C85
GO
Isoform 2 (identifier: Q7Z4T9-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     229-238: RGLPAGQAEV → ELVNLLTIGR
     239-603: Missing.

Note: No experimental confirmation available.

Show »
Length:238
Mass (Da):27,681
Checksum:i3027802089EE0021
GO
Isoform 3 (identifier: Q7Z4T9-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-67: MSHAVTIEEPQAQPQVSQTRYRERSRAGSHISSNRAYDFLYDPLFIVSSEKDHTQANIQATLIRSRL → MIFCT
     331-331: A → AKIQRTHVST...SNEEEEMEMA

Show »
Length:705
Mass (Da):82,865
Checksum:iD1B7B755EB991FCD
GO
Isoform 4 (identifier: Q7Z4T9-4) [UniParc]FASTAAdd to Basket

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.

Show »
Length:98
Mass (Da):11,450
Checksum:i6A8756FFB5021B88
GO
Isoform 6 (identifier: Q7Z4T9-6) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-126: Missing.
     331-331: A → AKIQRTHVST...SNEEEEMEMA

Show »
Length:641
Mass (Da):75,093
Checksum:i20323F064BBBE3A7
GO
Isoform 7 (identifier: Q7Z4T9-7) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     331-331: A → AKIQRTHVST...SNEEEEMEMA

Show »
Length:767
Mass (Da):89,955
Checksum:i7EBE6F798C496845
GO
Isoform 8 (identifier: Q7Z4T9-8) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-41: MSHAVTIEEPQAQPQVSQTRYRERSRAGSHISSNRAYDFLY → MIFCTVRTAADLPLRPSPPRP
     331-331: A → AKIQRTHVST...SNEEEEMEMA

Show »
Length:747
Mass (Da):87,525
Checksum:iC6B6FB166DEA3DA1
GO
Isoform 5 (identifier: Q7Z4T9-5) [UniParc]FASTAAdd to Basket

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.

Show »
Length:31
Mass (Da):3,481
Checksum:i227F73754782900C
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti207 – 2071A → P.4 Publications
Corresponds to variant rs6438544 [ dbSNP | Ensembl ].
VAR_030243
Natural varianti253 – 2531S → T.
Corresponds to variant rs9817771 [ dbSNP | Ensembl ].
VAR_030244
Natural varianti320 – 3201S → C.
Corresponds to variant rs9819218 [ dbSNP | Ensembl ].
VAR_030245

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 572572Missing in isoform 5.
VSP_014909Add
BLAST
Alternative sequencei1 – 505505Missing in isoform 4.
VSP_014908Add
BLAST
Alternative sequencei1 – 126126Missing in isoform 6.
VSP_039503Add
BLAST
Alternative sequencei1 – 6767MSHAV…IRSRL → MIFCT in isoform 3.
VSP_014907Add
BLAST
Alternative sequencei1 – 4141MSHAV…YDFLY → MIFCTVRTAADLPLRPSPPR P in isoform 8.
VSP_039504Add
BLAST
Alternative sequencei229 – 23810RGLPAGQAEV → ELVNLLTIGR in isoform 2.
VSP_014910
Alternative sequencei239 – 603365Missing in isoform 2.
VSP_014911Add
BLAST
Alternative sequencei331 – 3311A → AKIQRTHVSTIRKLVGKRKN IEGKLERRNIIKDYSDYASQ VYGPLSRLGCFPDNNSEDFV VKNYYLNTYEGLVELESCLP DFVTQPQIRAPKPKVITTKA GFLKRAARLDYELAEVHKAL LDKKNKVLEVKKPPRFLQRN PIPQPRLPTPTLEMTSNEEE EMEMA in isoform 3, isoform 6, isoform 7 and isoform 8.
VSP_014912

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti311 – 3111N → D in BAG51535. 1 Publication
Sequence conflicti344 – 3441V → I in AAP97317. 1 Publication
Sequence conflicti460 – 4601R → C in BAG51535. 1 Publication
Sequence conflicti485 – 4851D → A in CAH18098. 1 Publication
Sequence conflicti516 – 5161E → G in BAG63926. 1 Publication
Isoform 7 (identifier: Q7Z4T9-7)
Sequence conflicti362 – 3621K → R in BAF82603. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS2994.1. [Q7Z4T9-7]
RefSeqiNP_203528.2. NM_033364.3.
UniGeneiHs.341906.

Genome annotation databases

EnsembliENST00000273390; ENSP00000273390; ENSG00000183833. [Q7Z4T9-7]
ENST00000463700; ENSP00000419489; ENSG00000183833. [Q7Z4T9-2]
GeneIDi89876.
KEGGihsa:89876.
UCSCiuc003edc.2. human. [Q7Z4T9-2]
uc003ede.4. human. [Q7Z4T9-7]
uc010hqz.3. human. [Q7Z4T9-3]
uc011bjd.2. human. [Q7Z4T9-6]
uc011bje.2. human. [Q7Z4T9-8]

Polymorphism databases

DMDMi300669603.

Keywords - Coding sequence diversityi

Alternative promoter usage, Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS2994.1. [Q7Z4T9-7 ]
RefSeqi NP_203528.2. NM_033364.3.
UniGenei Hs.341906.

3D structure databases

ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 124630. 4 interactions.
IntActi Q7Z4T9. 3 interactions.
STRINGi 9606.ENSP00000273390.

PTM databases

PhosphoSitei Q7Z4T9.

Polymorphism databases

DMDMi 300669603.

Proteomic databases

PaxDbi Q7Z4T9.
PRIDEi Q7Z4T9.

Protocols and materials databases

DNASUi 89876.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000273390 ; ENSP00000273390 ; ENSG00000183833 . [Q7Z4T9-7 ]
ENST00000463700 ; ENSP00000419489 ; ENSG00000183833 . [Q7Z4T9-2 ]
GeneIDi 89876.
KEGGi hsa:89876.
UCSCi uc003edc.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

CTDi 89876.
GeneCardsi GC03P119422.
HGNCi HGNC:24010. MAATS1.
HPAi HPA035610.
MIMi 609910. gene.
neXtProti NX_Q7Z4T9.
PharmGKBi PA134904689.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG84773.
HOVERGENi HBG079422.
OMAi REEDQIF.
OrthoDBi EOG776SPK.
PhylomeDBi Q7Z4T9.
TreeFami TF328648.

Miscellaneous databases

GeneWikii C3orf15.
GenomeRNAii 89876.
NextBioi 76384.
PROi Q7Z4T9.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q7Z4T9.
Bgeei Q7Z4T9.
CleanExi HS_C3orf15.
Genevestigatori Q7Z4T9.

Family and domain databases

InterProi IPR026720. MAATS1.
[Graphical view ]
PANTHERi PTHR22455:SF10. PTHR22455:SF10. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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.
    , 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. Cited for: ALTERNATIVE SPLICING, INTERACTION WITH MYCBP, TISSUE SPECIFICITY (ISOFORM 1).

Entry informationi

Entry nameiMAAT1_HUMAN
AccessioniPrimary (citable) accession number: Q7Z4T9
Secondary accession number(s): A0AVK2
, A8K1J9, B3KP23, B4DG52, B4DZ14, C9JUG4, Q68DX2, Q8TD41, Q96A45, Q96JE8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: July 13, 2010
Last modified: July 9, 2014
This is version 86 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

External Data

Dasty 3

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