Reviewed, UniProtKB/Swiss-Prot Q7Z4T9 (AAT1_HUMAN)

Names and origin

Protein names

Recommended name:
    AMY-1-associating protein expressed in testis 1
      Short name=AAT-1

Gene names

Name:	AAT1
Synonyms:	C3orf15

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	603 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Isoform 4 may play a role in spermatogenesis.
Subunit structure	Interacts with AMY1 and AKAP1. Isoform 4 belongs to a complex together with AMY1, AKAP1 and PRKAR2B. Isoform 3 does not interact with AMY1.
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. Isoform 4 is present in the spermatid and mature sperm. Isoform 4 is also expressed in Leydig cells. Isoform 3 is expressed in the testis.
Post-translational modification	Isoform 4 is phosphorylated by PKA.

Ontologies

Keywords
Cellular component	Cytoplasm Mitochondrion
Coding sequence diversity	Alternative promoter usage Alternative splicing Polymorphism
Domain	Coiled coil
PTM	Phosphoprotein
Gene Ontology (GO)
None. [Check GOA]

Alternative products

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

Notes: 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.

Notes: 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.

Notes: May be produced by alternative promoter usage.

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.

Notes: May be produced by alternative promoter usage.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view
Molecule processing
	Chain	1 – 603	603	AMY-1-associating protein expressed in testis 1
Regions
	Coiled coil	264 – 310	47	Potential
	Coiled coil	367 – 431	65	Potential
	Coiled coil	487 – 519	33	Potential
Amino acid modifications
	Modified residue	579	1	Phosphothreonine
	Modified residue	587	1	Phosphoserine
Natural variations
	Alternative sequence	1 – 572	572	Missing in isoform 5.
	Alternative sequence	1 – 505	505	Missing in isoform 4.
	Alternative sequence	1 – 67	67	MSHAV…IRSRL → MIFCT in isoform 3.
	Alternative sequence	229 – 238	10	RGLPAGQAEV → ELVNLLTIGR in isoform 2.
	Alternative sequence	239 – 603	365	Missing in isoform 2.
	Alternative sequence	331	1	A → AKIQRTHVSTIRKLVGKRKN IEGKLERRNIIKDYSDYASQ VYGPLSRLGCFPDNNSEDFV VKNYYLNTYEGLVELESCLP DFVTQPQIRAPKPKVITTKA GFLKRAARLDYELAEVHKAL LDKKNKVLEVKKPPRFLQRN PIPQPRLPTPTLEMTSNEEE EMEMA in isoform 3.
	Natural variant	207	1	P → A: dbSNP rs6438544.
	Natural variant	253	1	S → T: dbSNP rs9817771.
	Natural variant	320	1	S → C: dbSNP rs9819218.
Experimental info
	Sequence conflict	344	1	I → V in CAH18098. Ref.3
	Sequence conflict	485	1	D → A in CAH18098. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (AAT-1M) [UniParc]. Last modified October 1, 2003. Version 1. Checksum: F7B419296641D546	FASTA	603	71,039
	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 QTDPYSPEYV 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 GRVIQNMMFE 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
	Isoform 2 [UniParc]. Checksum: 2A96302089EE0031		238	27,707
	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 LSIPSKSTVG TQTDYRDADV QTDPYSPEYV VCQDSIPELL TLATLTWGEL VNLLTIGR
	Isoform 3 [UniParc]. Checksum: FBADD39206406FC7		705	82,905
	10 20 30 40 50 60 MIFCTRKVPR FKTMFSNLIH YPRYSLYWSK SDPVPPFISR EWKGHKEKHR EALRQLTTTD 70 80 90 100 110 120 ASFQMPKEVY EDPEVTGKNR YKYFERPFLP FFQQMPFNVV YAVSKAEPYT FPPTSTKHLS 130 140 150 160 170 180 IPSKSTVGTQ TDYRDADVQT DPYSPEYVVC QDSIPELLTL ATLTWGRGLP AGQAEVEMIE 190 200 210 220 230 240 RAREKRAWEA SLPALSDTSQ FEKRRKMMNE MERKEWAFRE QEIEKLQEIR LEVLKELLRK 250 260 270 280 290 300 REENQNEVNM KHLNARWSKL QEGKEAKMAK IQRTHVSTIR KLVGKRKNIE GKLERRNIIK 310 320 330 340 350 360 DYSDYASQVY GPLSRLGCFP DNNSEDFVVK NYYLNTYEGL VELESCLPDF VTQPQIRAPK 370 380 390 400 410 420 PKVITTKAGF LKRAARLDYE LAEVHKALLD KKNKVLEVKK PPRFLQRNPI PQPRLPTPTL 430 440 450 460 470 480 EMTSNEEEEM EMAVIYLQKL LRGRVIQNMM FEGKEKRLEL IQELRTCHAL QEDEKLVKKA 490 500 510 520 530 540 EKQVTLALQR QRNLHEHKVS LVENHLAGLE GRALADMFDF LSKELVRLQE ERRIHAFVML 550 560 570 580 590 600 AERQRRVREA EESGRRQVEK QRLREEDEIF KEVVKVHHST ISSYLEDIIL NTEANTAEEQ 610 620 630 640 650 660 ARAEIEKMAE KINDIAYEME SRRTYLQSEE IVAELVYSFL IPEVQKYFVK EKVRNAQRKH 670 680 690 700 ILAAHQIIHS YTESMVQKKL TEGEQDEASN AAMLLEKETQ NENNS
	Isoform 4 (AAT1-alpha) [UniParc]. Checksum: 6A8756FFB5021B88		98	11,450
	10 20 30 40 50 60 MAEKINDIAY EMESRRTYLQ SEEIVAELVY SFLIPEVQKY FVKEKVRNAQ RKHILAAHQI 70 80 90 IHSYTESMVQ KKLTEGEQDE ASNAAMLLEK ETQNENNS
	Isoform 5 (AAT1-beta) (AAT1-gamma) [UniParc]. Checksum: 227F73754782900C		31	3,481
	10 20 30 MVQKKLTEGE QDEASNAAML LEKETQNENN S

References

	« Hide 'large scale' referencesShow '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: 12223483] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4 AND 5), INTERACTION WITH AMY1 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). Tissue: Lung.
[3]	The German cDNA consortium Submitted (JAN-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Testis.
[4]	"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: 15863901] [Abstract] Cited for: ALTERNATIVE SPLICING, INTERACTION WITH AMY1, TISSUE SPECIFICITY (ISOFORM 1).
[5]	"Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry." Molina H., Horn D.M., Tang N., Mathivanan S., Pandey A. Proc. Natl. Acad. Sci. U.S.A. 104:2199-2204(2007) [PubMed: 17287340] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-579 AND SER-587, MASS SPECTROMETRY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	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. CR749242 mRNA. Translation: CAH18098.1.
UniGene	Hs.341906
3D structure databases
ModBase	Search...
Genome annotation databases
Ensembl	ENSG00000183833. Homo sapiens. [Contig view]
Organism-specific databases
H-InvDB	HIX0003587.
HGNC	HGNC:24010. C3orf15.
MIM	609910. gene.
PharmGKB	PA134904689.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOVERGEN	Q7Z4T9.
Gene expression databases
ArrayExpress	Q7Z4T9.
CleanEx	HS_C3orf15.
GermOnline	ENSG00000183833. Homo sapiens.
Family and domain databases
ProDom	Q7Z4T9. [Graphical view] [Entries sharing at least one domain]
BLOCKS	Search...
Other Resources
SOURCE	Search...
ProtoNet	Search...

Entry information

Entry name

AAT1_HUMAN

Accession

Primary (citable) accession number: Q7Z4T9
Secondary accession number(s): Q68DX2 , Q8TD41, Q96A45, Q96JE8

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 19, 2005
Last sequence update:	October 1, 2003
Last modified:	July 22, 2008
This is version 32 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)