Property Summary

NCBI Gene PubMed Count 11
Grant Count 28
R01 Count 15
Funding $3,578,097.83
PubMed Score 96.77
PubTator Score 271.54

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (12)

Disease log2 FC p
interstitial lung disease -1.100 0.043
psoriasis 3.000 0.000
osteosarcoma -3.914 0.000
medulloblastoma, large-cell 1.200 0.001
tuberculosis 2.100 0.000
lung cancer -2.400 0.000
cystic fibrosis 2.100 0.000
adult high grade glioma 1.300 0.000
non primary Sjogren syndrome sicca -1.100 0.023
Endometriosis -1.341 0.018
ovarian cancer 1.300 0.000
pituitary cancer -3.300 0.000

Gene RIF (6)

PMID Text
25575548 Three LoF mutations in HAL were associated with increased histidine levels, which in turn were shown to be inversely related to the risk of CHD among both African Americans and European Americans.
20237496 Observational study of gene-disease association. (HuGE Navigator)
18641401 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
18280705 histidase is upregulated during keratinocyte differentiation and that all-trans retinoic acid but not UV irradiation modulates the expression level
15806399 This report describes the first mutations occurring in the coding region of the histidase structural gene in patients with histidinemia.
15741241 This evidence supports that the Hal gene is turned on by glucocorticoids and by glucagon either via PKC or PKA, but prefers the PKA pathway.

AA Sequence

MPRYTVHVRGEWLAVPCQDAQLTVGWLGREAVRRYIKNKPDNGGFTSVDDAHFLVRRCKGLGLLDNEDRL      1 - 70
EVALENNEFVEVVIEGDAMSPDFIPSQPEGVYLYSKYREPEKYIELDGDRLTTEDLVNLGKGRYKIKLTP     71 - 140
TAEKRVQKSREVIDSIIKEKTVVYGITTGFGKFARTVIPINKLQELQVNLVRSHSSGVGKPLSPERCRML    141 - 210
LALRINVLAKGYSGISLETLKQVIEMFNASCLPYVPEKGTVGASGDLAPLSHLALGLVGEGKMWSPKSGW    211 - 280
ADAKYVLEAHGLKPVILKPKEGLALINGTQMITSLGCEAVERASAIARQADIVAALTLEVLKGTTKAFDT    281 - 350
DIHALRPHRGQIEVAFRFRSLLDSDHHPSEIAESHRFCDRVQDAYTLRCCPQVHGVVNDTIAFVKNIITT    351 - 420
ELNSATDNPMVFANRGETVSGGNFHGEYPAKALDYLAIGIHELAAISERRIERLCNPSLSELPAFLVAEG    421 - 490
GLNSGFMIAHCTAAALVSENKALCHPSSVDSLSTSAATEDHVSMGGWAARKALRVIEHVEQVLAIELLAA    491 - 560
CQGIEFLRPLKTTTPLEKVYDLVRSVVRPWIKDRFMAPDIEAAHRLLLEQKVWEVAAPYIEKYRMEHIPE    561 - 630
SRPLSPTAFSLQFLHKKSTKIPESEDL                                               631 - 657
//

Text Mined References (14)

PMID Year Title
25575548 2015 Association of Rare Loss-Of-Function Alleles in HAL, Serum Histidine: Levels and Incident Coronary Heart Disease.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
20237496 2010 New genetic associations detected in a host response study to hepatitis B vaccine.
18641401 2008 A role for ultraviolet radiation immunosuppression in non-melanoma skin cancer as evidenced by gene-environment interactions.
18280705 2008 Histidase expression in human epidermal keratinocytes: regulation by differentiation status and all-trans retinoic acid.
16541075 2006 The finished DNA sequence of human chromosome 12.
15806399 2005 Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene.
15741241 2005 Regulation by glucagon of the rat histidase gene promoter in cultured rat hepatocytes and human hepatoblastoma cells.
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.
More...