Property Summary

NCBI Gene PubMed Count 67
Grant Count 71
R01 Count 45
Funding $7,255,597.11
PubMed Score 410.80
PubTator Score 224.48

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (17)

Disease log2 FC p
astrocytoma 1.100 0.000
sonic hedgehog group medulloblastoma -2.200 0.003
cystic fibrosis 1.228 0.000
medulloblastoma, large-cell -3.400 0.000
limb girdle muscular dystrophy 2B -1.181 0.000
non-small cell lung cancer -2.595 0.000
intraductal papillary-mucinous adenoma (... 1.700 0.024
colon cancer 2.300 0.017
lung cancer -4.300 0.000
pancreatic cancer 1.100 0.003
interstitial cystitis 1.600 0.000
lung adenocarcinoma -2.700 0.000
lung carcinoma -2.500 0.000
progressive supranuclear palsy -1.500 0.010
ovarian cancer -4.000 0.000
pituitary cancer 2.100 0.014
chronic rhinosinusitis -1.585 0.007

Synonym

Accession P23352 B2RPF8
Symbols HH1
HHA
KAL
KMS
KAL1
ADMLX
WFDC19
KALIG-1

Gene

PDB

1ZLG  

Gene RIF (46)

PMID Text
26375424 Study reports 2 new mutations in KAL1 gene from patients with septo-optic dysplasia proven to be loss-of-function.
26278626 two novel variants, KAL1 (c.146G>T (p.Cys49Phe)) and mitochondrial tRNAcys (m.5800A>G), were identified in a large Han Chinese family with inherited Kallmann syndrome; although two variants can't exert obvious effects on the migration of GnRH neurons, they show a synergistic effect, which can account for the occurrence of the disorder in this family
26051373 Kallmann syndrome with FGFR1 and KAL1 mutations was detected during fetal life
25892360 Results indicated that KAL1 may act as a putative tumor suppressor in hepatocellular carcinoma (HCC) and is inactivated by promoter hypermethylation. KAL1 may serve as a biomarker of malignant phenotype of HCC.
25726327 Our analyses show that the two phenotypes in our patient are due to independent genetic defects: a genomic rearrangement involving the KAL1 gene and a point mutation of the steryl-sulfatase gene.
25300351 FGF receptor 1-mediated anosmin-1 activity plays a crucial role in the continuous remodelling of the adult olfactory bulb.
25300141 anosmin-1 has been identified in other pathological scenarios both within (multiple sclerosis) and outside (cancer, atopic dermatitis) the central nerve system.
25060050 data indicated KAL1 plays potential suppressive role on OSCC initiation and progression. KAL1 gene may serve as adjuvant biomarker for identification of pathological grade.
24732674 Mutations were found in the following genes in one or more patients with congenital hypogonadotropic hypogonadism: KAL1, FGFR1, GNRHR, and CHD7
24232061 Two brothers presented with a sensorineural hearing impairment associated with cryptorchidism and abnormal movements. Genome-wide array analysis identified a large deletion of KAL1 in both patients confirming the diagnosis of Kallmann syndrome.
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AA Sequence

MVPGVPGAVLTLCLWLAASSGCLAAGPGAAAARRLDESLSAGSVQRARCASRCLSLQITRISAFFQHFQN      1 - 70
NGSLVWCQNHKQCSKCLEPCKESGDLRKHQCQSFCEPLFPKKSYECLTSCEFLKYILLVKQGDCPAPEKA     71 - 140
SGFAAACVESCEVDNECSGVKKCCSNGCGHTCQVPKTLYKGVPLKPRKELRFTELQSGQLEVKWSSKFNI    141 - 210
SIEPVIYVVQRRWNYGIHPSEDDATHWQTVAQTTDERVQLTDIRPSRWYQFRVAAVNVHGTRGFTAPSKH    211 - 280
FRSSKDPSAPPAPANLRLANSTVNSDGSVTVTIVWDLPEEPDIPVHHYKVFWSWMVSSKSLVPTKKKRRK    281 - 350
TTDGFQNSVILEKLQPDCDYVVELQAITYWGQTRLKSAKVSLHFTSTHATNNKEQLVKTRKGGIQTQLPF    351 - 420
QRRRPTRPLEVGAPFYQDGQLQVKVYWKKTEDPTVNRYHVRWFPEACAHNRTTGSEASSGMTHENYIILQ    421 - 490
DLSFSCKYKVTVQPIRPKSHSKAEAVFFTTPPCSALKGKSHKPVGCLGEAGHVLSKVLAKPENLSASFIV    491 - 560
QDVNITGHFSWKMAKANLYQPMTGFQVTWAEVTTESRQNSLPNSIISQSQILPSDHYVLTVPNLRPSTLY    561 - 630
RLEVQVLTPGGEGPATIKTFRTPELPPSSAHRSHLKHRHPHHYKPSPERY                        631 - 680
//

Text Mined References (73)

PMID Year Title
26375424 2015 Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD).
26278626 2015 Point mutations in KAL1 and the mitochondrial gene MT-tRNA(cys) synergize to produce Kallmann syndrome phenotype.
26051373 2015 Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life.
25892360 2015 Translational implication of Kallmann syndrome-1 gene expression in hepatocellular carcinoma.
25726327 2015 Ichthyosis and Kallmann syndrome: not always a contiguous gene syndrome.
25300351 2016 Anosmin-1 over-expression increases adult neurogenesis in the subventricular zone and neuroblast migration to the olfactory bulb.
25300141 2014 The adhesion molecule anosmin-1 in neurology: Kallmann syndrome and beyond.
25077900 2014 The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.
25060050 2015 Decreased expression of Kallmann syndrome 1 sequence gene (KAL1) contributes to oral squamous cell carcinoma progression and significantly correlates with poorly differentiated grade.
24732674 2014 Genetics of congenital hypogonadotropic hypogonadism in Denmark.
More...