ALFRED: allele frequency database

The ALlele FREquency Database
ALFRED is a resource of gene frequency data on human populations
supported by the U. S. National Science Foundation.

ALFRED detailed record information

Locus Information

Name	ALFRED UID	Locus Symbol	Chromosome	Band Position
Tyrosine aminotransferase	LO000289T	TAT	16	16q22.1

Synonyms:
Sites List: See Sites List
External Resources: Entrez Gene Locus Information OMIM description GenBank sequence GenBank sequence PharmGKB Gene Information
References: See References
Locus Description: The TAT gene encodes a mitochondrial tyrosine aminotransferase (EC 2.6.1.5), a liver-specific enzyme involved in amino acid metabolism (i.e., catalyzes transamination of tyrosine to p-hydroxyphenylpyruvate) and gluconeogenesis. The TAT gene expression is modulated by hormones (such as glucagon via the cAMP signalling pathway) and glucocorticoids (review by Dietrich, 1992) [PubMed ID: 1349265]. Structure and sequence of the TAT gene was determined by analysis of cDNA and genomic clones from the Rettenmeier (1990) group. The TAT gene consists of 12 exons and spans over 10.9 kb. The non-coding region of the 3' exon contains a complete Alu element. Two functional glucocorticoid response elements (GREs) reside 2.5 kb upstream of the rat TAT gene. The DNA sequence of the corresponding region of the human TAT gene shows the distal GRE mutated and the proximal GRE replaced by Alu elements (Rettenmeier et al., 1990) [PMID: 1973834]. Barton et al. (1986) [PubMed ID: 2870017] assigned the TAT locus to chromosome 16q22-q24 by using somatic cell hybrid analysis and in situ hybridization. Several RFLP sites have been reported such as BamHI (Wullich et al., 1989) [PubMed ID: 2566972], MspI, and HaeIII sites (Westphal et al., 1988) [PubMed ID: 2456982].
Sites within this locus ordered by their chromosomal position in the 37.3 NCBI build:

Site Name (Navigates to ALFRED description)	dbSNP rs# (Navigates to dbSNP reference page)	Chr-Position	Status	# Populations typed
rs13338868	rs13338868	71609268		50
intron 11 BamHI				13

References:
- Barton DE, Yang-Feng TL, Francke U. "The human tyrosine aminotransferase gene mapped to the long arm of chromosome 16 (region 16q22----q24) by somatic cell hybrid analysis and in situ hybridization". Hum. Genet. 72:221-4. (1986) Online citation.

- Dietrich JB. "Tyrosine aminotransferase: a transaminase among others?". Cell. Mol. Biol. 38:95-114. (1992) Online citation.

- Jorde LB, Bamshad MJ, Watkins WS, Zenger R, Fraley AE, Krakowiak PA, Carpenter KD, Soodyall H, Jenkins T, Rogers AR. "Origins and affinities of modern humans: a comparison of mitochondrial and nuclear genetic data.". Am. J. Hum. Genet. 57:523-538. (1995) Online citation.

- Rettenmeier R, Natt E, Zentgraf H, Scherer G. "Isolation and characterization of the human tyrosine aminotransferase gene". Nucleic Acids Res. 18:3853-61. (1990) Online citation.

- Westphal EM, Natt E, Grimm T, Odievre M, Scherer G. "The human tyrosine aminotransferase gene: characterization of restriction fragment length polymorphisms and haplotype analysis in a family with tyrosinemia type II". Hum. Genet. 79:260-4. (1988) Online citation.

- Wullich B, Natt E, Wienker TF, Scherer G. "A BAM HI RFLP at the human tyrosine aminotransferase (TAT) gene locus at 16q". Nucleic Acids Res. 17:3331. (1989) Online citation.

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© 2012 Kenneth K Kidd, Yale University. All rights reserved. The full Copyright Notification is also available.
Originally prototyped by Michael Osier with the aid of Kei Cheung
Upgrades and maintenance since 2002 by Haseena Rajeevan