Q7Z4T9 (AAT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

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.
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. 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. 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. Ref.7
Post-translational modification	Isoform 4 is phosphorylated by PKA. Ref.1 Ref.8

Ontologies

Keywords
Cellular component	Cytoplasm Mitochondrion
Coding sequence diversity	Alternative promoter usage Alternative splicing Polymorphism
Domain	Coiled coil
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	mitochondrion Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	protein binding Inferred from physical interaction Ref.1. Source: IntAct
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
AKAP1	Q92667-2	3	EBI-2119735,EBI-2120060
MYCBP	Q99417	5	EBI-2119735,EBI-716185

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
Sequence annotation (Features)
	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
	Sequence conflict	362	1	K → R in BAF82603. Ref.3
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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 603	603	AMY-1-associating protein expressed in testis 1		PRO_0000064417
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 Ref.8
	Modified residue	587	1	Phosphoserine Ref.8
Natural variations
	Alternative sequence	1 – 572	572	Missing in isoform 5.		VSP_014909
	Alternative sequence	1 – 505	505	Missing in isoform 4.		VSP_014908
	Alternative sequence	1 – 126	126	Missing in isoform 6.		VSP_039503
	Alternative sequence	1 – 67	67	MSHAV…IRSRL → MIFCT in isoform 3.		VSP_014907
	Alternative sequence	1 – 41	41	MSHAV…YDFLY → MIFCTVRTAADLPLRPSPPR P in isoform 8.		VSP_039504
	Alternative sequence	229 – 238	10	RGLPAGQAEV → ELVNLLTIGR in isoform 2.		VSP_014910
	Alternative sequence	239 – 603	365	Missing in isoform 2.		VSP_014911
	Alternative sequence	331	1	A → AKIQRTHVSTIRKLVGKRKN IEGKLERRNIIKDYSDYASQ VYGPLSRLGCFPDNNSEDFV VKNYYLNTYEGLVELESCLP DFVTQPQIRAPKPKVITTKA GFLKRAARLDYELAEVHKAL LDKKNKVLEVKKPPRFLQRN PIPQPRLPTPTLEMTSNEEE EMEMA in isoform 3, isoform 6, isoform 7 and isoform 8.		VSP_014912
	Natural variant	207	1	A → P. Ref.2 Ref.3 Ref.4 Ref.6 Corresponds to variant rs6438544 [ dbSNP | Ensembl ].		VAR_030243
	Natural variant	253	1	S → T. Corresponds to variant rs9817771 [ dbSNP | Ensembl ].		VAR_030244
	Natural variant	320	1	S → C. Corresponds to variant rs9819218 [ dbSNP | Ensembl ].		VAR_030245
Experimental info
	Sequence conflict	311	1	N → D in BAG51535. Ref.3
	Sequence conflict	344	1	V → I in AAP97317. Ref.2
	Sequence conflict	460	1	R → C in BAG51535. Ref.3
	Sequence conflict	485	1	D → A in CAH18098. Ref.4
	Sequence conflict	516	1	E → G in BAG63926. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (AAT-1M) [UniParc]. Last modified July 13, 2010. Version 2. Checksum: 9E12D39628531C85	FASTA	603	70,999
	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
	Isoform 2 [UniParc]. Checksum: 3027802089EE0021	FASTA	238	27,681
	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 QTDPYSAEYV VCQDSIPELL TLATLTWGEL VNLLTIGR
	Isoform 3 [UniParc]. Checksum: D1B7B755EB991FCD	FASTA	705	82,865
	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 DPYSAEYVVC 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 LRGRVVQNMM 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	FASTA	98	11,450
	10 20 30 40 50 60 MAEKINDIAY EMESRRTYLQ SEEIVAELVY SFLIPEVQKY FVKEKVRNAQ RKHILAAHQI 70 80 90 IHSYTESMVQ KKLTEGEQDE ASNAAMLLEK ETQNENNS
	Isoform 6 [UniParc]. Checksum: 20323F064BBBE3A7	FASTA	641	75,093
	10 20 30 40 50 60 MPKEVYEDPE VTGKNRYKYF ERPFLPFFQQ MPFNVVYAVS KAEPYTFPPT STKHLSIPSK 70 80 90 100 110 120 STVGTQTDYR DADVQTDPYS AEYVVCQDSI PELLTLATLT WGRGLPAGQA EVEMIERARE 130 140 150 160 170 180 KRAWEASLPA LSDTSQFEKR RKMMNEMERK EWAFREQEIE KLQEIRLEVL KELLRKREEN 190 200 210 220 230 240 QNEVNMKHLN ARWSKLQEGK EAKMAKIQRT HVSTIRKLVG KRKNIEGKLE RRNIIKDYSD 250 260 270 280 290 300 YASQVYGPLS RLGCFPDNNS EDFVVKNYYL NTYEGLVELE SCLPDFVTQP QIRAPKPKVI 310 320 330 340 350 360 TTKAGFLKRA ARLDYELAEV HKALLDKKNK VLEVKKPPRF LQRNPIPQPR LPTPTLEMTS 370 380 390 400 410 420 NEEEEMEMAV IYLQKLLRGR VVQNMMFEGK EKRLELIQEL RTCHALQEDE KLVKKAEKQV 430 440 450 460 470 480 TLALQRQRNL HEHKVSLVEN HLAGLEGRAL ADMFDFLSKE LVRLQEERRI HAFVMLAERQ 490 500 510 520 530 540 RRVREAEESG RRQVEKQRLR EEDEIFKEVV KVHHSTISSY LEDIILNTEA NTAEEQARAE 550 560 570 580 590 600 IEKMAEKIND IAYEMESRRT YLQSEEIVAE LVYSFLIPEV QKYFVKEKVR NAQRKHILAA 610 620 630 640 HQIIHSYTES MVQKKLTEGE QDEASNAAML LEKETQNENN S
	Isoform 7 [UniParc]. Checksum: 7EBE6F798C496845	FASTA	767	89,955
	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 AKIQRTHVST IRKLVGKRKN IEGKLERRNI 370 380 390 400 410 420 IKDYSDYASQ VYGPLSRLGC FPDNNSEDFV VKNYYLNTYE GLVELESCLP DFVTQPQIRA 430 440 450 460 470 480 PKPKVITTKA GFLKRAARLD YELAEVHKAL LDKKNKVLEV KKPPRFLQRN PIPQPRLPTP 490 500 510 520 530 540 TLEMTSNEEE EMEMAVIYLQ KLLRGRVVQN MMFEGKEKRL ELIQELRTCH ALQEDEKLVK 550 560 570 580 590 600 KAEKQVTLAL QRQRNLHEHK VSLVENHLAG LEGRALADMF DFLSKELVRL QEERRIHAFV 610 620 630 640 650 660 MLAERQRRVR EAEESGRRQV EKQRLREEDE IFKEVVKVHH STISSYLEDI ILNTEANTAE 670 680 690 700 710 720 EQARAEIEKM AEKINDIAYE MESRRTYLQS EEIVAELVYS FLIPEVQKYF VKEKVRNAQR 730 740 750 760 KHILAAHQII HSYTESMVQK KLTEGEQDEA SNAAMLLEKE TQNENNS
	Isoform 8 [UniParc]. Checksum: C6B6FB166DEA3DA1	FASTA	747	87,525
	10 20 30 40 50 60 MIFCTVRTAA DLPLRPSPPR PDPLFIVSSE KDHTQANIQA TLIRSRLRKV PRFKTMFSNL 70 80 90 100 110 120 IHYPRYSLYW SKSDPVPPFI SREWKGHKEK HREALRQLTT TDASFQMPKE VYEDPEVTGK 130 140 150 160 170 180 NRYKYFERPF LPFFQQMPFN VVYAVSKAEP YTFPPTSTKH LSIPSKSTVG TQTDYRDADV 190 200 210 220 230 240 QTDPYSAEYV VCQDSIPELL TLATLTWGRG LPAGQAEVEM IERAREKRAW EASLPALSDT 250 260 270 280 290 300 SQFEKRRKMM NEMERKEWAF REQEIEKLQE IRLEVLKELL RKREENQNEV NMKHLNARWS 310 320 330 340 350 360 KLQEGKEAKM AKIQRTHVST IRKLVGKRKN IEGKLERRNI IKDYSDYASQ VYGPLSRLGC 370 380 390 400 410 420 FPDNNSEDFV VKNYYLNTYE GLVELESCLP DFVTQPQIRA PKPKVITTKA GFLKRAARLD 430 440 450 460 470 480 YELAEVHKAL LDKKNKVLEV KKPPRFLQRN PIPQPRLPTP TLEMTSNEEE EMEMAVIYLQ 490 500 510 520 530 540 KLLRGRVVQN MMFEGKEKRL ELIQELRTCH ALQEDEKLVK KAEKQVTLAL QRQRNLHEHK 550 560 570 580 590 600 VSLVENHLAG LEGRALADMF DFLSKELVRL QEERRIHAFV MLAERQRRVR EAEESGRRQV 610 620 630 640 650 660 EKQRLREEDE IFKEVVKVHH STISSYLEDI ILNTEANTAE EQARAEIEKM AEKINDIAYE 670 680 690 700 710 720 MESRRTYLQS EEIVAELVYS FLIPEVQKYF VKEKVRNAQR KHILAAHQII HSYTESMVQK 730 740 KLTEGEQDEA SNAAMLLEKE TQNENNS
	Isoform 5 (AAT1-beta) (AAT1-gamma) [UniParc]. Checksum: 227F73754782900C	FASTA	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), 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: 14702039] [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: 17974005] [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. , 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: 16641997] [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: 15489334] [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: 15863901] [Abstract] Cited for: ALTERNATIVE SPLICING, INTERACTION WITH AMY1, TISSUE SPECIFICITY (ISOFORM 1).
[8]	"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. Tissue: Embryonic kidney.
+	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.
IPI	IPI00376045. IPI00470511. IPI00607786. IPI00749309. IPI00797244. IPI00969116. IPI00969133. IPI00969208.
RefSeq	NP_203528.2. NM_033364.3.
UniGene	Hs.341906.
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q7Z4T9. 4 interactions.
STRING	Q7Z4T9.
Polymorphism databases
DMDM	300669603.
Proteomic databases
PRIDE	Q7Z4T9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000264232; ENSP00000264232; ENSG00000183833. ENST00000273390; ENSP00000273390; ENSG00000183833. ENST00000383667; ENSP00000373163; ENSG00000183833.
GeneID	89876.
KEGG	hsa:89876.
UCSC	uc003edc.2. human. uc010hqz.1. human.
Organism-specific databases
CTD	89876.
HGNC	HGNC:24010. C3orf15.
HPA	HPA035610.
MIM	609910. gene.
neXtProt	NX_Q7Z4T9.
PharmGKB	PA134904689.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00390000003024.
HOGENOM	HBG357756.
HOVERGEN	HBG079422.
OMA	TSYLEDI.
OrthoDB	EOG4XPQFG.
Gene expression databases
ArrayExpress	Q7Z4T9.
Bgee	Q7Z4T9.
CleanEx	HS_C3orf15.
Genevestigator	Q7Z4T9.
GermOnline	ENSG00000183833. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other
NextBio	76384.
SOURCE	Search...

Entry information

Entry name

AAT1_HUMAN

Accession

Primary (citable) accession number: Q7Z4T9
Secondary accession number(s): A0AVK2 , 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:	December 14, 2011
This is version 62 of the entry and version 2 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.