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KAL1 Gene

protein-coding   GIFtS: 58
GCID: GC0XM008456

Kallmann Syndrome 1 Sequence


(Previous symbols: KAL, ADMLX)
  See KAL1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Kallmann Syndrome 1 Sequence1 2     KMS2 5
ADMLX1 2 3 5     HHA2
KAL1 2 3     KALIG-12
anosmin-11 2     WFDC192
WAP Four-Disulfide Core Domain 191 2     Kallmann Syndrome Interval Gene 12
Adhesion Molecule-Like X-Linked2 3     Kallmann Syndrome-1 Sequence (Anosmin-1)2
Kallmann Syndrome Protein2 3     KALIG13
HH12 5     

External Ids:    HGNC: 62111   Entrez Gene: 37302   Ensembl: ENSG000000112017   OMIM: 3008365   UniProtKB: P233523   

Export aliases for KAL1 gene to outside databases

Previous GC identifers: GC0XM007368 GC0XM007232 GC0XM007843 GC0XM007908 GC0XM008306 GC0XM006324


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for KAL1 Gene:
Mutations in this gene cause the X-linked Kallmann syndrome. The encoded protein is similar in sequence to
proteins known to function in neural cell adhesion and axonal migration. In addition, this cell surface protein
is N-glycosylated and may have anti-protease activity. (provided by RefSeq, Jul 2008)

GeneCards Summary for KAL1 Gene:
KAL1 (Kallmann syndrome 1 sequence) is a protein-coding gene. Diseases associated with KAL1 include kallmann syndrome, and kallmann syndrome 1. GO annotations related to this gene include extracellular matrix structural constituent and heparin binding.

UniProtKB/Swiss-Prot: KALM_HUMAN, P23352
Function: Has a dual branch-promoting and guidance activity, which may play an important role in the patterning of
mitral and tufted cell collaterals to the olfactory cortex (By similarity). Chemoattractant for fetal olfactory
epithelial cells




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NT_167197.2  NC_018934.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for KAL1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKAL1 promoter sequence
   Search Chromatin IP Primers for KAL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KAL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp22.32   Ensembl cytogenetic band:  Xp22.31   HGNC cytogenetic band: Xp22.32

KAL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KAL1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM008456:  view genomic region     (about GC identifiers)

Start:
8,496,915 bp from pter      End:
8,700,227 bp from pter
Size:
203,313 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: KALM_HUMAN, P23352 (See protein sequence)
Recommended Name: Anosmin-1 precursor  
Size: 680 amino acids; 76112 Da
Subunit: Interacts with FGFR1; this interaction does not interfere with FGF2-binding to FGFR1. Binds heparin.
Heparin may promote or interfere with KAL1-FGFR1-FGF2 complex formation depending on the sequential order of its
binding to the various constituents. For instance, heparin-KAL1 interaction favors subsequent binding to
pre-existing binary FGFR1-FGF2 complex, while heparin-FGF2 complex does not interact with KAL1-FGFR1
1 PDB 3D structure from and Proteopedia for KAL1:
1ZLG (3D)    
Secondary accessions: B2RPF8

Explore the universe of human proteins at neXtProt for KAL1: NX_P23352

Explore proteomics data for KAL1 at MOPED

Post-translational modifications: 

  • N-glycosylated1
  • May be proteolytically cleaved at the cell surface and released from the cell surface1
  • Glycosylation2 at Asn71, Asn209, Asn300, Asn470, Asn553, Asn564
  • Modification sites at PhosphoSitePlus

  • See KAL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000207.2  
    ENSEMBL proteins: 
     ENSP00000262648  

    KAL1 Human Recombinant Protein Products:

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    Novus Biologicals KAL1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
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    Search eBioscience for ELISAs for KAL1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FN3: Fibronectin type III domain containing
    WFDC: WAP four-disulfide core domain containing

    3 InterPro protein domains:
     IPR003961 Fibronectin_type3
     IPR008197 WAP-type_4-diS_core
     IPR013783 Ig-like_fold

    Graphical View of Domain Structure for InterPro Entry P23352

    ProtoNet protein and cluster: P23352

    1 Blocks protein domain: IPB008197 4-disulphide core signature

    UniProtKB/Swiss-Prot: KALM_HUMAN, P23352
    Similarity: Contains 4 fibronectin type-III domains
    Similarity: Contains 1 WAP domain


    Find genes that share domains with KAL1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KALM_HUMAN, P23352
    Function: Has a dual branch-promoting and guidance activity, which may play an important role in the patterning of
    mitral and tufted cell collaterals to the olfactory cortex (By similarity). Chemoattractant for fetal olfactory
    epithelial cells

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004867serine-type endopeptidase inhibitor activity IEA--
    GO:0005201extracellular matrix structural constituent TAS8842728
    GO:0005515protein binding IPI19696444
    GO:0008201heparin binding IEA--
    GO:0030414peptidase inhibitor activity ----
         
    Find genes that share ontologies with KAL1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for KAL1:
     Increased HPV18 LCR reporter a  Small cells 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KAL1
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    Selected qRT-PCR Assays for microRNAs that regulate KAL1 (see all 19):
    hsa-miR-520d-5p hsa-miR-139-5p hsa-miR-515-5p hsa-miR-1255a hsa-miR-34b hsa-miR-548c-3p hsa-miR-3163 hsa-miR-569
    SwitchGear 3'UTR luciferase reporter plasmidKAL1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat KAL1

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    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KAL1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KALM_HUMAN, P23352: Cell membrane; Peripheral membrane protein. Secreted. Note=Proteolytic cleavage may release
    it from the cell surface into the extracellular space
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane5
    endoplasmic reticulum1
    golgi apparatus1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005578proteinaceous extracellular matrix TAS8832397
    GO:0005615extracellular space TAS8842728
    GO:0005886plasma membrane IEA--

    Find genes that share ontologies with KAL1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Array including KAL1: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for KAL1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for KAL1 (P233521, 3 ENSP000002626484) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SDC2P347413, ENSP000003070464I2D: score=2 STRING: ENSP00000307046
    FGFR1P113621, ENSP000003802804EBI-5272188,EBI-1028277 STRING: ENSP00000380280
    FGF2ENSP000002644984STRING: ENSP00000264498
    FGFR2ENSP000004102944STRING: ENSP00000410294
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006928cellular component movement TAS1922361
    GO:0006935chemotaxis TAS8842728
    GO:0007155cell adhesion IEA--
    GO:0007411axon guidance TAS1922361

    Find genes that share ontologies with KAL1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for KAL1 (KALM)

    5 Novoseek inferred chemical compound relationships for KAL1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gnrh 74.9 14 11297579 (3), 18345392 (1), 19844165 (1), 10456179 (1) (see all 8)
    heparan sulfate 30.9 4 16677626 (2)
    isoleucine 21.5 1 15765064 (1)
    steroid 14.6 2 17603054 (1), 10396356 (1)
    heparin 0 2 15471890 (1), 20117945 (1)



    Find genes that share compounds with KAL1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for KAL1 gene: 
    NM_000216.2  

    Unigene Cluster for KAL1:

    Kallmann syndrome 1 sequence
    Hs.521869  [show with all ESTs]
    Unigene Representative Sequence: NM_000216
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262648(uc004csf.3) ENST00000481896 ENST00000488294
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate KAL1 (see all 19):
    hsa-miR-520d-5p hsa-miR-139-5p hsa-miR-515-5p hsa-miR-1255a hsa-miR-34b hsa-miR-548c-3p hsa-miR-3163 hsa-miR-569
    SwitchGear 3'UTR luciferase reporter plasmidKAL1 3' UTR sequence
    Inhib. RNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat KAL1
      QuantiFast Probe-based Assays in human, mouse, rat KAL1

    Additional mRNA sequence: 

    BC137426.1 BC137427.1 M97252.1 S60085.1 S60088.1 X60299.1 

    4 DOTS entries:

    DT.444478  DT.413647  DT.100747896  DT.91640146 

    Selected AceView cDNA sequences (see all 73):

    S60088 BM473419 AU117607 N89949 AA419498 CB321733 AL044781 AL120218 
    CD642906 BQ029898 CB306497 AI703187 AL600573 NM_000216 AI659512 BF475677 
    X60299 AU117978 CA435944 AU118686 S60085 M97252 BM722769 BI755921 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KAL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAGAGTTTG
    KAL1 Expression
    About this image


    KAL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Paraxial Mesoderm (Gastrulation Derivatives)
             PureStem E15, Meso-prx/latp Progenitor
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)
             PureStem E15, Meso-prx/latp Progenitor
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 3 entries
             Human embryonic stem cells (family)
     
     Umbilical Cord (Extraembryonic Tissues)
             Umbilical Arteries
     
     Bone (Muscoskeletal System)
             HyStem+TGFbeta3+GDF5-induced E15 cells
    KAL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KAL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.521869

    UniProtKB/Swiss-Prot: KALM_HUMAN, P23352
    Tissue specificity: Expressed in the cerebellum (at protein level)

        Pathway & Disease-focused RT2 Profiler PCR Array including KAL1: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KAL1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for KAL1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia KAL11 Kallmann syndrome 1 sequence 81.96(n)
    84.51(a)
      610921  XM_848502.3  XP_853595.3 
    chicken
    (Gallus gallus)
    Aves KAL11 Kallmann syndrome 1 sequence 74.2(n)
    77.54(a)
      396395  NM_205424.1  NP_990755.1 
    lizard
    (Anolis carolinensis)
    Reptilia KAL16
    Kallmann syndrome 1 sequence
    76(a)
    1 ↔ 1
    3(118028203-118138616)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia kal11 Kallmann syndrome 1 sequence 70.73(n)
    72.96(a)
      100135017  NM_001113688.1  NP_001107160.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AF163310.12   -- 76.35(n)   30630  AF163310.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Kal16
    Kallmann syndrome 1 ortholog
    23(a)
    1 ↔ 1
    3R(19967117-19973212)
    worm
    (Caenorhabditis elegans)
    Secernentea kal-11 kal-1 42(n)
    30.19(a)
      173282  NM_061067.6  NP_493468.2 


    ENSEMBL Gene Tree for KAL1 (if available)
    TreeFam Gene Tree for KAL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KAL1 gene
    2 SIMAP similar genes for KAL1 using alignment to 1 protein entry:     KALM_HUMAN:
    WFDC3    WUGSC

    Find genes that share paralogs with KAL1           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for KAL1
    PGOHUM00000233961 PGOHUM00000233962


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KAL1 (see all 3120)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1378525171,2,,4
    CHypogonadotropic hypogonadism 1 with or without anosmia (HH1)4 pathogenic18501339(-) CACATC/TGACAC 2 S L mis11Minor allele frequency- T:0.00NA 4542
    VAR_0653644
    Hypogonadotropic hypogonadism 1 with or without anosmia (HH1)4--see VAR_0653642 E K mis40--------
    VAR_0310134
    Hypogonadotropic hypogonadism 1 with or without anosmia (HH1)4--see VAR_0310132 C R mis40--------
    VAR_0310184
    Hypogonadotropic hypogonadism 1 with or without anosmia (HH1)4--see VAR_0310182 W R mis40--------
    VAR_0077204
    Hypogonadotropic hypogonadism 1 with or without anosmia (HH1)4--see VAR_0077202 N K mis40--------
    VAR_0310154
    Hypogonadotropic hypogonadism 1 with or without anosmia (HH1)4--see VAR_0310152 N S mis40--------
    VAR_0310144
    Hypogonadotropic hypogonadism 1 with or without anosmia (HH1)4--see VAR_0310142 R P mis40--------
    rs289373091,2,4
    Hypogonadotropic hypogonadism 1 with or without anosmia (HH1)4--see VAR_0127422 mis40--------
    VAR_0310174
    Hypogonadotropic hypogonadism 1 with or without anosmia (HH1)4--see VAR_0310172 F L mis40--------
    VAR_0653634
    Hypogonadotropic hypogonadism 1 with or without anosmia (HH1)4--see VAR_0653632 C R mis40--------

    HapMap Linkage Disequilibrium report for KAL1 (8496915 - 8700227 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for KAL1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2739945CNV Deletion23290073
    esv1378554CNV Insertion17803354
    nsv513762CNV Insertion21212237
    esv1005860CNV Insertion20482838
    nsv6789CNV Loss18451855
    nsv520929CNV Gain19592680
    esv991240CNV Gain20482838
    esv28971CNV Gain19812545
    nsv518704CNV Gain19592680
    esv2752339CNV Gain17911159

    Human Gene Mutation Database (HGMD): KAL1
    Locus Specific Mutation Databases (LSDB): KAL1

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300836   
    OMIM disorders: 308700  
    UniProtKB/Swiss-Prot: KALM_HUMAN, P23352
  • Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]: A disorder characterized by
    absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating
    gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it
    is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss.
    Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is
    due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of
    gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic
    hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been
    termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). Note=The disease is caused by mutations
    affecting distinct genetic loci, including the gene represented in this entry. The genetics of hypogonadotropic
    hypogonadism involves various modes of transmission. Oligogenic inheritance has been reported in some patients
    carrying mutations in KAL1 as well as in other HH-associated genes including FGFR1 and TACR3 (PubMed:23643382)

  • 9 diseases for KAL1:    
    About MalaCards
    kallmann syndrome    kallmann syndrome 1    kal1-related isolated gonadotropin-releasing hormone deficiency    hypogonadotropic hypogonadism 1 with or without anosmia
    charge syndrome    x-linked ichthyosis    renal agenesis    hypogonadotropic hypogonadism 17 with or without anosmia
    hypogonadotropic hypogonadism 8 with or without anosmia

    5 diseases from the University of Copenhagen DISEASES database for KAL1:
    Hypogonadism     Klinefelter's syndrome     Renal agenesis     Ocular albinism
    Cryptorchidism

    Find genes that share disorders with KAL1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for KAL1 gene (see all 14)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    kallmann syndrome 98.8 58 11124862 (5), 10585565 (3), 10670750 (3), 11456260 (3) (see all 44)
    hypogonadism 85.8 3 7677154 (1), 9719154 (1), 17223984 (1)
    renal agenesis 73 8 17603054 (4), 10210557 (1), 10076881 (1), 15571757 (1)
    klinefelters syndrome 68.2 1 16882753 (1)
    single gene defects 66.2 1 18385259 (1)
    aplasia 63.7 4 8504298 (1), 1518845 (1), 8460158 (1), 11456260 (1)
    ichthyosis 54.5 1 17603054 (1)
    addisons disease 49.3 2 10727999 (1), 10527669 (1)
    hormone deficiency 40.8 1 15004876 (1)
    hypoplasia 39.2 1 10670750 (1)

    Genatlas disease: KAL1
    Kallmann syndrome 1,characterized by hypogonadotropic hypogonadism and anosmia,maybe associated with renal
    agenesis of olfactory lobes and ataxia,synkinesia,nystagmus,visual defects,clubfoot,cleft palate,including rare
    cases of sporadic isolated GNRH deficiency

    GeneTests: KAL1
    GeneReviews: KAL1
    Genetic Association Database (GAD): KAL1
    Human Genome Epidemiology (HuGE) Navigator: KAL1 (8 documents)

    Export disorders for KAL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for KAL1 gene, integrated from 10 sources (see all 146):
    (articles sorted by number of sources associating them with KAL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans. (PubMed id 17213338)1, 2, 4 Bhagavath B.... Layman L.C. (Mol. Hum. Reprod. 2007)
    2. 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. (PubMed id 15001591)1, 2, 4 Sato N.... Ogata T. (J. Clin. Endocrinol. Metab. 2004)
    3. The importance of autosomal genes in Kallmann syndrome: genotype- phenotype correlations and neuroendocrine characteristics. (PubMed id 11297579)1, 2, 9 Oliveira L.M.B.... Vallejo M. (J. Clin. Endocrinol. Metab. 2001)
    4. Clinical assessment and molecular analysis of GnRHR and KAL1 genes in males with idiopathic hypogonadotrophic hypogonadism. (PubMed id 17223984)1, 2, 9 Versiani B.R.... de Castro M. (Clin. Endocrinol. (Oxf.) 2007)
    5. A recurrent missense mutation in the KAL gene in patients with X- linked Kallmann's syndrome. (PubMed id 9589672)1, 2, 9 Maya-Nunez G....Mendez J.P. (J. Clin. Endocrinol. Metab. 1998)
    6. The Kallmann syndrome gene product expressed in COS cells is cleaved on the cell surface to yield a diffusible component. (PubMed id 8842728)1, 2, 9 Rugarli E.I.... Ballabio A. (Hum. Mol. Genet. 1996)
    7. Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome. (PubMed id 8504298)1, 2, 9 Hardelin J.-P.... Petit C. (Hum. Mol. Genet. 1993)
    8. Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2). (PubMed id 15605412)1, 2, 9 Albuisson J.... Dode C. (Hum. Mutat. 2005)
    9. The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons. (PubMed id 15471890)1, 2, 9 Cariboni A.... Maggi R. (Hum. Mol. Genet. 2004)
    10. Genetic analysis in patients with Kallmann syndrome: coexistence of mutations in prokineticin receptor 2 and KAL1. (PubMed id 18723471)1, 4, 9 Canto P....MAcndez J.P. (J. Androl. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3730 HGNC: 6211 AceView: KAL1 Ensembl:ENSG00000011201 euGenes: HUgn3730
    ECgene: KAL1 H-InvDB: KAL1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for KAL1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=KAL1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KAL1 gene:
    Search GeneIP for patents involving KAL1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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