Property Summary

NCBI Gene PubMed Count 9
PubMed Score 1.73
PubTator Score 2.87

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (1)

Disease Target Count P-value
posterior fossa group B ependymoma 1530 3.96869726927984E-14
non-small cell lung carcinoma 413 1.04434497489711E-10
lung adenocarcinoma 2714 6.0603919209E-10
Breast cancer 3099 5.89642322080505E-5
atypical teratoid / rhabdoid tumor 4369 8.85997724422251E-5
nasopharyngeal carcinoma 1056 0.00251052094532661
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.00821099787072803
intraductal papillary-mucinous adenoma (IPMA) 2956 0.00946326648546708
chronic rhinosinusitis 512 0.0123143637706512
pancreatic cancer 2300 0.0126488184955492
non primary Sjogren syndrome sicca 840 0.0153466464139837
primary pancreatic ductal adenocarcinoma 1271 0.028859632734858
cystic fibrosis and chronic rhinosinusitis 213 0.0450343476888002

Expression

Synonym

Accession Q7Z4T9 A0AVK2 A8K1J9 B3KP23 B4DG52 B4DZ14 C9JUG4 Q68DX2 Q8TD41 Q96A45 Q96JE8
Symbols AAT1
C3orf15
CaM-IP2
SPATA26
AAT1alpha

Gene

  Ortholog (10)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG
Mouse OMA EggNOG
Rat OMA EggNOG
Cow OMA EggNOG
Opossum OMA EggNOG
Platypus EggNOG Inparanoid
Chicken OMA EggNOG
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG

Gene RIF (3)

PMID Text
14551891 Allelic variants of the M2 and A332A haplotypes of the human alpha-1-antitrypsin (AAT) gene are associated with human immunodeficiency virus (HIV) infection in 2 African-based populations from HIV-pandemic sub-Saharan Africa.
12692006 A hydrophobic groove near the exposed residue 213 allows AAT to entrap gemfibrozil (but not fenofibrate), preventing PPARalpha activation. 2 independent studies support a protective role for AAT in established coronary artery atherogenesis progression.
12223483 identified a novel AMY-1-binding protein, AAT-1, and determined its expression profiles, genes, and cellular localization; results showed that AAT-1 was specifically expressed in the testis throughout spermatogenesis and was also present in mature sperm

AA Sequence

MSHAVTIEEPQAQPQVSQTRYRERSRAGSHISSNRAYDFLYDPLFIVSSEKDHTQANIQATLIRSRLRKV      1 - 70
PRFKTMFSNLIHYPRYSLYWSKSDPVPPFISREWKGHKEKHREALRQLTTTDASFQMPKEVYEDPEVTGK     71 - 140
NRYKYFERPFLPFFQQMPFNVVYAVSKAEPYTFPPTSTKHLSIPSKSTVGTQTDYRDADVQTDPYSAEYV    141 - 210
VCQDSIPELLTLATLTWGRGLPAGQAEVEMIERAREKRAWEASLPALSDTSQFEKRRKMMNEMERKEWAF    211 - 280
REQEIEKLQEIRLEVLKELLRKREENQNEVNMKHLNARWSKLQEGKEAKMAVIYLQKLLRGRVVQNMMFE    281 - 350
GKEKRLELIQELRTCHALQEDEKLVKKAEKQVTLALQRQRNLHEHKVSLVENHLAGLEGRALADMFDFLS    351 - 420
KELVRLQEERRIHAFVMLAERQRRVREAEESGRRQVEKQRLREEDEIFKEVVKVHHSTISSYLEDIILNT    421 - 490
EANTAEEQARAEIEKMAEKINDIAYEMESRRTYLQSEEIVAELVYSFLIPEVQKYFVKEKVRNAQRKHIL    491 - 560
AAHQIIHSYTESMVQKKLTEGEQDEASNAAMLLEKETQNENNS                               561 - 603
//

Text Mined References (12)

PMID Year Title
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17967944 2007 A conserved CaM- and radial spoke associated complex mediates regulation of flagellar dynein activity.
16641997 2006 The DNA sequence, annotation and analysis of human chromosome 3.
15863901 2005 Structure and characterization of AAT-1 isoforms.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14551891 2003 Are polymorphic markers within the alpha-1-antitrypsin gene associated with risk of human immunodeficiency virus disease?
12692006 2003 Progression of atherosclerosis is associated with variation in the alpha1-antitrypsin gene.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12223483 2002 AAT-1, a novel testis-specific AMY-1-binding protein, forms a quaternary complex with AMY-1, A-kinase anchor protein 84, and a regulatory subunit of cAMP-dependent protein kinase and is phosphorylated by its kinase.
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