Property Summary

NCBI Gene PubMed Count 67
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 2.9e-08
sonic hedgehog group medulloblastoma -2.200 3.5e-03
cystic fibrosis 1.228 7.9e-05
medulloblastoma, large-cell -3.400 8.0e-05
limb girdle muscular dystrophy 2B -1.181 4.5e-05
non-small cell lung cancer -2.595 5.2e-21
intraductal papillary-mucinous adenoma (... 1.700 2.4e-02
colon cancer 2.300 1.7e-02
lung cancer -4.300 5.3e-06
pancreatic cancer 1.100 3.1e-03
interstitial cystitis 1.600 8.1e-05
lung adenocarcinoma -2.700 4.8e-18
lung carcinoma -2.500 1.0e-16
progressive supranuclear palsy -1.500 9.8e-03
ovarian cancer -4.000 8.7e-10
pituitary cancer 2.100 1.4e-02
chronic rhinosinusitis -1.585 7.4e-03

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.
24189182 Anosmin-1 can facilitate tumor cell proliferation, migration, invasin, and survival.
24002956 No abnormalities were found in the patient group for the PROKR2 and GNRH1genes. In addition, no genomic rearrangements were identified in the healthy control individuals for the described genes
23721716 These results indicate that intragenic multiexon deletions are one of the most frequent KAL1 abnormalities, which can be more accurately detected by multiplex ligation-dependent probe amplification.
23533228 genetic association studies in population in Massachusetts: Data suggest that clinical features in Kallmann syndrome (KS) are highly associated with genetic causes: synkinesia is associated with genetic variations/mutations in KAL1.
23410897 Mutation analysis reveals a missense mutation of KAL1 in two brothers with Kallmann syndrome, while their mother is heterozygous for this missense mutation encoded by the single-nucleotide polymorphism rs2229013.
23357298 Increased presence of anosmin-1 in TGF-beta treated human retinal pigment epithelial cells cells, with distinct localization at the intercellular junctions.
23189990 we demonstrate that missense mutations reported in patients with KS, C172R and N267K did not alter or substantially reduce, respectively, the binding to FGFR1
22801565 Peculiar prolactinomas in patients with pituitary developmental Kal 2 gene mutations
22016523 The results of this study proposed that FGF-2 and Anosmin-1 are markers for the histopathological type and the level of inflammation of multiple sclerosis lesions
21717404 we report the case of a deletion of exons 4 to 14 (c.469-?_6314+?del) within the KAL1 gene in two related patients and in three female carriers among the members of the presented family.
21682876 Comprehensive mutation analysis of all 7 known KS genes (KAL1, FGFR1, FGF8, PROK2, PROKR2, CHD7, and WDR11) in 30 well-phenotyped probands revealed mutations in KAL1 (3 men) and FGFR1 (all 5 women vs. 4/25 men), but not in other genes in Finland patients.
21497178 A central role of KAL-1, in GnRH neuron ontogeny - specifically in GnRH neuronal migration from the cribriform plate area into the brain.
21351529 Two new mutations were detected in KAL1 from male patients with idiopathic hypogonadotropic hypogonadism.
20734064 Observational study of gene-disease association. (HuGE Navigator)
20530987 Role of the KAL1 protein missense mutations in Kallman syndrome and in olfactory bulb development.
20362962 Mutations of KAL1 underlie an autosomal dominant form of Kallmann syndrome.
20219326 Anosmin-1 produced by epidermal keratinocytes in response to calcium concentrations or cytokines may modulate epidermal nerve density in atopic dermatitis.
19844165 KAL1 gene expression plays an important role in cancer metastasis and protection from apoptosis.
19734936 report describes 2 intragenic deletions of KAL-1 in 2 Kallmann syndrome (KS) patients & suggests KAL-1 deletion may be more prevalent in KS patients with other congenital organ abnormalities than those described previously from Northwestern China
19696444 binding of anosmin-1 to FGFR1 and heparin can play a dual role in assembly and activity of the ternary FGFR1.FGF2.heparin complex.
18723471 Observational study of gene-disease association. (HuGE Navigator)
18682503 Observational study of gene-disease association. (HuGE Navigator)
18463157 12% of Kallman syndrome males have KAL1 deletions, but intragenic deletions of the FGFR1, GNRH1, GNRHR, GPR54 and NELF genes are uncommon in Idiopathic hypogonadotropic hypogonadism/Kallman syndrome.
18160472 KAL1 mutations result in a more severe reproductive phenotype than FGFR1/KAL2 mutations.
17603054 The phenotype of renal agenesis/dysgenesis strongly indicates the existence of KAL1 gene defects in the genotype of patients with sporadic Kallmann syndrome.
17213338 Observational study of genotype prevalence. (HuGE Navigator)
16876430 Data suggest that the relative concentrations of Anosmin-1 and FGF-2 modulate the migration of oligodendrocyte precursors during development through their interaction with FGFR1.
15949815 analysis of the biological function of anosmin-1 and its ability to interact with its three macromolecular ligands
15636431 KAL1 gene has a closely related nonfunctional pseudogene on the Y chromosome
15548653 anosmin-1 is an isoform-specific co-ligand modulator of FGFR signaling that amplifies and specifies FGFR1 signaling responses during human nervous system development and defines the link between autosomal and X-linked Kallmann's syndrome
15471890 a direct action of anosmin-1 on the migratory activity of GnRH neurons is shown
15324302 anosmin-1 may modulate the catalytic activity of uPA and its signalling pathway, whereas HS determines cell surface localization of the anosmin-1-uPA complex
15004876 it is unlikely that KAL gene mutations are a clinically significant cause of sporadic GnRH deficiency in female patients
15001591 six novel and two recurrent intragenic KAL1 mutations in seven familial and four sporadic male cases of Kallmann syndrome
12627230 AL1 gene product, the extracellular matrix protein anosmin-1, is involved in FGF signaling
12050219 Identification of three novel mutations in the KAL1 gene in patients with Kallmann syndrome.

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.
24232061 2013 Discovery of a large deletion of KAL1 in 2 deaf brothers.
24189182 2014 Anosmin-1 contributes to brain tumor malignancy through integrin signal pathways.
24002956 2013 [Multiplex ligation dependent probe amplification analysis of KAL1, GNRH1, GNRHR, PROK2 and PROKR2 in male patients with idiopathic hypogonadotropic hypogonadism].
23721716 2013 Combined use of multiplex ligation-dependent probe amplification and automatic sequencing for identification of KAL1 defects in patients with Kallmann syndrome.
23643382 2013 Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
23533228 2013 Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes.
23410897 2013 The KAL1 pVal610Ile mutation is a recessive mutation causing Kallmann syndrome.
23357298 2013 Transforming growth factor-? regulates the expression of anosmin (KAL-1) in human retinal pigment epithelial cells.
23189990 2013 The cysteine-rich region and the whey acidic protein domain are essential for anosmin-1 biological functions.
22927827 2012 SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.
22801565 Clinical Case Seminar. Peculiar prolactinomas in patients with pituitary developmental gene mutations: from an adult endocrinologist perspective.
22016523 2011 FGF-2 and Anosmin-1 are selectively expressed in different types of multiple sclerosis lesions.
21717404 2011 Large deletion in the KAL1 gene in two related patients with hypogonadotropic hypogonadism: diagnostic usefulness of cytogenetic and molecular methods.
21682876 2011 Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland.
21497178 2011 X-linked GnRH deficiency: role of KAL-1 mutations in GnRH deficiency.
21351529 2011 [Mutation of the KAL1 gene in 30 male patients with idiopathic hypogonadotropic hypogonadism].
21168128 2011 A fertile male patient with Kallmann syndrome and two missense mutations in the KAL1 gene.
20734064 2010 A large-scale candidate gene association study of age at menarche and age at natural menopause.
20530987 2011 Identification of two novel missense mutations in the KAL1 gene in Han Chinese subjects with Kallmann Syndrome.
20362962 2010 Clinical genetics of Kallmann syndrome.
20219326 2010 Keratinocyte-derived anosmin-1, an extracellular glycoprotein encoded by the X-linked Kallmann syndrome gene, is involved in modulation of epidermal nerve density in atopic dermatitis.
19844165 2009 Anosmin-1 involved in neuronal cell migration is hypoxia inducible and cancer regulated.
19734936 2009 Molecular analysis of KAL-1 in a series of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism patients from Northwestern China.
19696444 2009 Novel mechanisms of fibroblast growth factor receptor 1 regulation by extracellular matrix protein anosmin-1.
18723471 Genetic analysis in patients with Kallmann syndrome: coexistence of mutations in prokineticin receptor 2 and KAL1.
18682503 2008 Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome.
18463157 2008 The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
18160472 2008 Kallmann's syndrome: a comparison of the reproductive phenotypes in men carrying KAL1 and FGFR1/KAL2 mutations.
17603054 2007 Renal dysgenesis and KAL1 gene defects in patients with sporadic Kallmann syndrome.
17223984 2007 Clinical assessment and molecular analysis of GnRHR and KAL1 genes in males with idiopathic hypogonadotrophic hypogonadism.
17213338 2007 KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans.
17054399 2006 Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.
16876430 2006 Anosmin-1 modulates the FGF-2-dependent migration of oligodendrocyte precursors in the developing optic nerve.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15949815 2005 Extended and flexible domain solution structure of the extracellular matrix protein anosmin-1 by X-ray scattering, analytical ultracentrifugation and constrained modelling.
15772651 2005 The DNA sequence of the human X chromosome.
15636431 2004 Polymorphic changes in the KAL1 gene: not all of them should be classified as polymorphisms.
15605412 2005 Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2).
15548653 2004 Anosmin-1 modulates fibroblast growth factor receptor 1 signaling in human gonadotropin-releasing hormone olfactory neuroblasts through a heparan sulfate-dependent mechanism.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15471890 2004 The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons.
15324302 2004 Cross-talk of anosmin-1, the protein implicated in X-linked Kallmann's syndrome, with heparan sulphate and urokinase-type plasminogen activator.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
15004876 2004 Mutation analysis of the KAL gene in female patients with gonadotropin-releasing hormone deficiency.
15001591 2004 Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.
12627230 2003 Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12007408 2002 Anosmin-1, defective in the X-linked form of Kallmann syndrome, promotes axonal branch formation from olfactory bulb output neurons.
11463336 2001 Molecular modelling and experimental studies of mutation and cell-adhesion sites in the fibronectin type III and whey acidic protein domains of human anosmin-1.
11297579 2001 The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics.
10591208 1999 The DNA sequence of human chromosome 22.
9713559 1998 Contiguous gene syndrome due to deletion of the first three exons of the Kallmann gene and complete deletion of the steroid sulphatase gene.
9589672 1998 A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome.
8989261 1997 Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency.
8842728 1996 The Kallmann syndrome gene product expressed in COS cells is cleaved on the cell surface to yield a diffusible component.
8832397 1996 Initial characterization of anosmin-1, a putative extracellular matrix protein synthesized by definite neuronal cell populations in the central nervous system.
8504298 1993 Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome.
7590336 1995 Characterization of the promoter of the human KAL gene, responsible for the X-chromosome-linked Kallmann syndrome.
1977309 1990 Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232.
1922361 1991 A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules.
1913827 1991 The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules.
1303284 1992 Structure of the X-linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome.
1302031 1992 Kallmann syndrome due to a translocation resulting in an X/Y fusion gene.