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Protein

Protein MAATS1

Gene

MAATS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Isoform 4 may play a role in spermatogenesis.1 Publication

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
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:24010. MAATS1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Mitochondrion

Pathology & Biotechi

Organism-specific databases

DisGeNETi89876.
OpenTargetsiENSG00000183833.
PharmGKBiPA134904689.

Polymorphism and mutation databases

BioMutaiMAATS1.
DMDMi300669603.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000644171 – 603Protein MAATS1Add BLAST603

Post-translational modificationi

Isoform 4 is phosphorylated by PKA.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ7Z4T9.
PeptideAtlasiQ7Z4T9.
PRIDEiQ7Z4T9.

PTM databases

iPTMnetiQ7Z4T9.
PhosphoSitePlusiQ7Z4T9.

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.

Gene expression databases

BgeeiENSG00000183833.
CleanExiHS_C3orf15.
ExpressionAtlasiQ7Z4T9. baseline and differential.
GenevisibleiQ7Z4T9. HS.

Organism-specific databases

HPAiCAB016281.

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 interactors.
IntActiQ7Z4T9. 4 interactors.
STRINGi9606.ENSP00000273390.

Structurei

3D structure databases

ProteinModelPortaliQ7Z4T9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili264 – 310Sequence analysisAdd BLAST47
Coiled coili367 – 431Sequence analysisAdd BLAST65
Coiled coili487 – 519Sequence analysisAdd BLAST33

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IG6N. Eukaryota.
ENOG410XQ2Y. LUCA.
GeneTreeiENSGT00390000003024.
HOVERGENiHBG079422.
InParanoidiQ7Z4T9.
OMAiKHLNARW.
OrthoDBiEOG091G02QA.
PhylomeDBiQ7Z4T9.
TreeFamiTF328648.

Family and domain databases

InterProiIPR026720. MAATS1.
IPR032840. MAATS1_dom.
[Graphical view]
PANTHERiPTHR22455:SF10. PTHR22455:SF10. 1 hit.
PfamiPF14738. PaaSYMP. 1 hit.
[Graphical view]

Sequences (8)i

Sequence statusi: Complete.

This entry describes 8 isoformsi produced by alternative promoter usage and alternative splicing. AlignAdd to basket

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

        10         20         30         40         50
MSHAVTIEEP QAQPQVSQTR YRERSRAGSH ISSNRAYDFL YDPLFIVSSE
60 70 80 90 100
KDHTQANIQA TLIRSRLRKV PRFKTMFSNL IHYPRYSLYW SKSDPVPPFI
110 120 130 140 150
SREWKGHKEK HREALRQLTT TDASFQMPKE VYEDPEVTGK NRYKYFERPF
160 170 180 190 200
LPFFQQMPFN VVYAVSKAEP YTFPPTSTKH LSIPSKSTVG TQTDYRDADV
210 220 230 240 250
QTDPYSAEYV VCQDSIPELL TLATLTWGRG LPAGQAEVEM IERAREKRAW
260 270 280 290 300
EASLPALSDT SQFEKRRKMM NEMERKEWAF REQEIEKLQE IRLEVLKELL
310 320 330 340 350
RKREENQNEV NMKHLNARWS KLQEGKEAKM AVIYLQKLLR GRVVQNMMFE
360 370 380 390 400
GKEKRLELIQ ELRTCHALQE DEKLVKKAEK QVTLALQRQR NLHEHKVSLV
410 420 430 440 450
ENHLAGLEGR ALADMFDFLS KELVRLQEER RIHAFVMLAE RQRRVREAEE
460 470 480 490 500
SGRRQVEKQR LREEDEIFKE VVKVHHSTIS SYLEDIILNT EANTAEEQAR
510 520 530 540 550
AEIEKMAEKI NDIAYEMESR RTYLQSEEIV AELVYSFLIP EVQKYFVKEK
560 570 580 590 600
VRNAQRKHIL AAHQIIHSYT ESMVQKKLTE GEQDEASNAA MLLEKETQNE

NNS
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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti311N → D in BAG51535 (PubMed:14702039).Curated1
Sequence conflicti344V → I in AAP97317 (Ref. 2) Curated1
Sequence conflicti460R → C in BAG51535 (PubMed:14702039).Curated1
Sequence conflicti485D → A in CAH18098 (PubMed:17974005).Curated1
Sequence conflicti516E → G in BAG63926 (PubMed:14702039).Curated1
Isoform 7 (identifier: Q7Z4T9-7)
Sequence conflicti362K → R in BAF82603 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_030243207A → P.4 PublicationsCorresponds to variant rs6438544dbSNPEnsembl.1
Natural variantiVAR_030244253S → T.Corresponds to variant rs9817771dbSNPEnsembl.1
Natural variantiVAR_030245320S → C.Corresponds to variant rs9819218dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0149091 – 572Missing in isoform 5. 1 PublicationAdd BLAST572
Alternative sequenceiVSP_0149081 – 505Missing in isoform 4. 1 PublicationAdd BLAST505
Alternative sequenceiVSP_0395031 – 126Missing in isoform 6. 1 PublicationAdd BLAST126
Alternative sequenceiVSP_0149071 – 67MSHAV…IRSRL → MIFCT in isoform 3. 1 PublicationAdd BLAST67
Alternative sequenceiVSP_0395041 – 41MSHAV…YDFLY → MIFCTVRTAADLPLRPSPPR P in isoform 8. 1 PublicationAdd BLAST41
Alternative sequenceiVSP_014910229 – 238RGLPAGQAEV → ELVNLLTIGR in isoform 2. 1 Publication10
Alternative sequenceiVSP_014911239 – 603Missing in isoform 2. 1 PublicationAdd BLAST365
Alternative sequenceiVSP_014912331A → AKIQRTHVSTIRKLVGKRKN IEGKLERRNIIKDYSDYASQ VYGPLSRLGCFPDNNSEDFV VKNYYLNTYEGLVELESCLP DFVTQPQIRAPKPKVITTKA GFLKRAARLDYELAEVHKAL LDKKNKVLEVKKPPRFLQRN PIPQPRLPTPTLEMTSNEEE EMEMA in isoform 3, isoform 6, isoform 7 and isoform 8. 3 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_001307245.1. NM_001320316.1.
NP_001307246.1. NM_001320317.1.
NP_001307247.1. NM_001320318.1.
NP_203528.2. NM_033364.3.
XP_011511579.1. XM_011513277.1. [Q7Z4T9-6]
UniGeneiHs.341906.

Genome annotation databases

EnsembliENST00000273390; ENSP00000273390; ENSG00000183833. [Q7Z4T9-7]
ENST00000463700; ENSP00000419489; ENSG00000183833. [Q7Z4T9-2]
GeneIDi89876.
KEGGihsa:89876.
UCSCiuc003edc.3. human. [Q7Z4T9-1]

Keywords - Coding sequence diversityi

Alternative promoter usage, Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_001307245.1. NM_001320316.1.
NP_001307246.1. NM_001320317.1.
NP_001307247.1. NM_001320318.1.
NP_203528.2. NM_033364.3.
XP_011511579.1. XM_011513277.1. [Q7Z4T9-6]
UniGeneiHs.341906.

3D structure databases

ProteinModelPortaliQ7Z4T9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124630. 4 interactors.
IntActiQ7Z4T9. 4 interactors.
STRINGi9606.ENSP00000273390.

PTM databases

iPTMnetiQ7Z4T9.
PhosphoSitePlusiQ7Z4T9.

Polymorphism and mutation databases

BioMutaiMAATS1.
DMDMi300669603.

Proteomic databases

PaxDbiQ7Z4T9.
PeptideAtlasiQ7Z4T9.
PRIDEiQ7Z4T9.

Protocols and materials databases

DNASUi89876.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000273390; ENSP00000273390; ENSG00000183833. [Q7Z4T9-7]
ENST00000463700; ENSP00000419489; ENSG00000183833. [Q7Z4T9-2]
GeneIDi89876.
KEGGihsa:89876.
UCSCiuc003edc.3. human. [Q7Z4T9-1]

Organism-specific databases

CTDi89876.
DisGeNETi89876.
GeneCardsiMAATS1.
HGNCiHGNC:24010. MAATS1.
HPAiCAB016281.
MIMi609910. gene.
neXtProtiNX_Q7Z4T9.
OpenTargetsiENSG00000183833.
PharmGKBiPA134904689.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IG6N. Eukaryota.
ENOG410XQ2Y. LUCA.
GeneTreeiENSGT00390000003024.
HOVERGENiHBG079422.
InParanoidiQ7Z4T9.
OMAiKHLNARW.
OrthoDBiEOG091G02QA.
PhylomeDBiQ7Z4T9.
TreeFamiTF328648.

Miscellaneous databases

ChiTaRSiMAATS1. human.
GeneWikiiC3orf15.
GenomeRNAii89876.
PROiQ7Z4T9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000183833.
CleanExiHS_C3orf15.
ExpressionAtlasiQ7Z4T9. baseline and differential.
GenevisibleiQ7Z4T9. HS.

Family and domain databases

InterProiIPR026720. MAATS1.
IPR032840. MAATS1_dom.
[Graphical view]
PANTHERiPTHR22455:SF10. PTHR22455:SF10. 1 hit.
PfamiPF14738. PaaSYMP. 1 hit.
[Graphical view]
ProtoNetiSearch...

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: November 30, 2016
This is version 107 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.