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KAL1 Gene

protein-coding   GIFtS: 59

GC0XM008456
Kallmann syndrome 1 sequence
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: KAL, ADMLX)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
ADMLX 2, 3, 5
HHA 2
KAL 2, 3
KALIG-1 1, 2
KALIG1 3
KMS 2, 5
OTTHUMP00000022873 2
anosmin-1 2
Descriptions
Adhesion molecule-like X-linked 2, 3
Kallmann syndrome 1 protein 2
Kallmann syndrome 1 sequence 2
Kallmann syndrome interval gene 1 2
Kallmann syndrome protein 3
Kallmann syndrome-1 sequence (anosmin-1) 2
External Ids
HGNC: 62111
Entrez Gene: 37302
UniProtKB: P233523
Ensembl: ENSG000000112017
Search outside databases for aliases for KAL1 gene

Previous GC identifers: GC0XM007368 GC0XM007232 GC0XM007843 GC0XM007908 GC0XM008306

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for KAL1:
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]

UniProtKB/Swiss-Prot: KALM_HUMAN, P23352
Function: May be an adhesion-like molecule with anti-protease activity

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

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)

GeneLoc gene densities for chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM008456:     (about GC identifiers)

Start:
8,456,915 bp from pter
End:
8,660,227 bp from pter
Size:
203,313 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000023.9  NT_011757.15  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: KALM_HUMAN, P23352 (See protein sequence)
Recommended Name: Anosmin-1 precursor  
Size: 680 amino acids; 76112 Da
Subcellular location: Cell surface
PDB structures from and Proteopedia :
1ZLG (3D)    

Post-translational modifications:

  • N-glycosylated1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_000207.2  

    ENSEMBL proteins: 
    ENSP00000262648 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (KAL1)
    Human Recombinant Proteins from Abnova (KAL1)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    4 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576 extracellular region IEA--
    GO:0005578 proteinaceous extracellular matrix TAS8832397
    GO:0005615 extracellular space TAS8842728
    GO:0009986 cell surface IEA--
    About this table

    Antibodies for KAL1: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for KAL1
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (KAL1), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (KAL1)
    Novus Biologicals Antibodies for KAL1

    Assays for KAL1: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    5 InterPro domains/families:
     IPR008957 Fibronectin_typ-III-like_fold
     IPR018069 Whey_acidic_4-diS_core_CS
     IPR003961 FN_III
     IPR008197 Whey_acidic_protein_4-diS_core
     IPR015874 4-disulphide_core


       GeneDecks  KAL1 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P23352

    ProtoNet protein and cluster: P23352

    1 Blocks protein family: IPB008197 4-disulphide core signature

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

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (KAL1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (KAL1)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000216

                  Applied Biosystems Silencer® siRNAs for KAL1

                  Sigma-Aldrich siRNA for KAL1  
                         Sigma-Aldrich shRNA Panels and shRNA for KAL1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_000216
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_000216
                                     untagged cDNA clone in CMV expression vector: NM_000216 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_000216

    UniProtKB/Swiss-Prot: KALM_HUMAN, P23352
    Function: May be an adhesion-like molecule with anti-protease activity

    3 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004867 serine-type endopeptidase inhibitor activity IEA--
    GO:0005201 extracellular matrix structural constituent TAS8842728
    GO:0005515 protein binding IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


     Gene Network CentralTM Interacting Genes and Proteins Network for  KAL1 


    5/23 Interacting proteins for KAL1 (ENSP000002626483) via UniProtKB, MINT, and/or STRING (see all 23 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LMLNENSP000003288293STRING (score=.961)
    PROKR2ENSP000002172703STRING (score=.946)
    HPSEENSP000003081073STRING (score=.929)
    PROK2ENSP000002956193STRING (score=.902)
    NELFENSP000003605303STRING (score=.889)
    About this table

    3 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006935 chemotaxis TAS8842728
    GO:0007155 cell adhesion TAS1913827 1922361
    GO:0007411 axon guidance TAS1922361
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for KAL1
    3 Novoseek chemical compound relationships for KAL1 gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    heparan sulfate 32.87 4 16677626 (2)
    isoleucine 23.37 1 15765064 (1)
    steroid 16.68 2 17603054 (1), 10396356 (1)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (KAL1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (KAL1)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000216

                  Sigma-Aldrich siRNA for KAL1  
                         Sigma-Aldrich shRNA Panels and shRNA for KAL1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_000216  

    REFSEQ mRNAs for KAL1 gene: 

    NM_000216.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_000216  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_000216
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_000216
                                     untagged cDNA clone in CMV expression vector: NM_000216 

    Additional cDNA sequence: 

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

    4 DOTS entries:

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

    24/73 AceView cDNA sequences (see all 73 ):

    AU117607 AI703187 BQ029898 CB306497 N89949 AA419498 BM473419 CB321733 
    CD642906 AL044781 S60088 AL120218 AI659512 BQ181212 CA435944 AH003768 
    M97252 AL704788 BI755921 AU123877 BM802132 NM_000216 BM981870 S60085 

    highest scoring ESTs for KAL1:

    M97252 AI582702 S60085 X60299 AA057103 AA635598 AA970936 AI186695 AI432167 AI470092 

    Unigene Cluster for KAL1:

    Kallmann syndrome 1 sequence
    Hs.521869  [show with all ESTs]
    Unigene Representative Sequence: NM_000216


    GeneLoc Exon Structure

    1 Ensembl transcript including schematic representation:
    ENST00000262648  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    KAL1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for KAL1

    1 / 2 / 3

    3 probe-sets matching KAL1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    33158_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 M97252 1.00 1.00 1.00 1

    205206_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000216 0.60 1.00 0.82 1

    205206_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  KAL1 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TTAGAGTTTG

    SOURCE GeneReport for Unigene cluster: Hs.521869

    Expression variation in blood from EXPOLDB for KAL1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for KAL1 gene from 5/6 species (see all 6 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    KAL11   -- Kallmann syndrome 1 sequence 81.33(n)
    83.89(a)
    610921  XM_848502.1  XP_853595.1 
    chimpanzee
    (Pan troglodytes)
    KAL11   -- Kallmann syndrome 1 sequence 99.35(n)
    99.51(a)
    465480  XM_520920.2  XP_520920.2 
    cow
    (Bos taurus)
    KAL11   -- Kallmann syndrome 1 sequence 83.4(n)
    92.19(a)
    525898  XM_604257.3  XP_604257.3 
    chicken
    (Gallus gallus)
    KAL11   -- Kallmann syndrome 1 sequence 74.01(n)
    77.81(a)
    396395  NM_205424.1  NP_990755.1 
    zebrafish
    (Danio rerio)
    AF163310.12   --   -- 76.35(n) 30630  AF163310.1 
    About this table        Species with no ortholog for KAL1

    ENSEMBL Gene Tree for KAL1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

      --
    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/799 NCBI SNPs in KAL1 are shown (see all 799 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 200)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr X posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    --
    rs18524001,2
    A,C,F,H,O8459905(+) GCAACT/ACTCTA 1 -- ut3111Minor allele frequency- A:0.44EU EA WA NA 766
    rs8081271,2
    A,C,F,H,O8458979(-) GATAGC/TTTCTC 1 -- ut31 trp316Minor allele frequency- T:0.21NA EA EU WA 1332
    --
    rs19181531,2
    A,C,F,H,O8459573(+) GATAAC/ATTGCT 1 -- ut317Minor allele frequency- A:0.44NA EU EA WA 554
    --
    rs65301811,2
    A,C,F,H8459030(+) GAAGAT/CTGTTT 1 -- ut314Minor allele frequency- C:0.45EU EA WA 420
    --
    rs59788931,2
    A,C,F,H8458875(+) AGTTCG/ATGTAA 1 -- ut31 ese37Minor allele frequency- A:0.45EU EA WA NA 548
    --
    rs65301831,2
    A,C,F,H8459107(+) CCAGCC/TTGTGA 1 -- ut31 ese37Minor allele frequency- T:0.44EU EA WA NA 546
    --
    rs66401661,2
    A,C,F,H8457510(+) ACCCAC/TGGCAT 1 -- ut314Minor allele frequency- T:0.50EU EA WA 420
    --
    rs19181541,2
    A,F,H,O8459667(+) AGCTAC/TGAAAA 1 -- ut31 ese34Minor allele frequency- T:0.49EU EA WA 418
    --
    rs59344431,2
    A,C,F,H8458463(+) ATCACG/ATTTTT 1 -- ut317Minor allele frequency- A:0.45EU EA WA NA 552
    --
    rs66388341,2
    A,C,F,H8458794(+) CTATGT/CAGAGA 1 -- ut31 ese38Minor allele frequency- C:0.45EU EA WA 733
    About this table

    HapMap Linkage Disequilibrium images for KAL1 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 308700

    UniProtKB/Swiss-Prot: KALM_HUMAN, P23352

  • Defects in KAL1 are the cause of Kallmann syndrome type 1 (KAL1) [MIM:308700]; also known
    as hypogonadotropic hypogonadism and anosmia. 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 some patients other developmental
    anomalies can be present, which include renal agenesis, cleft lip and/or palate, selective tooth
    agenesis, and bimanual synkinesis. In some cases anosmia may be absent or inconspicuous
  • 10/14 Novoseek disease relationships for KAL1 gene (see all 14 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    kallmann syndrome 98.84 57 11124862 (5), 10585565 (3), 10670750 (3), 11456260 (3) (see all 43)
    hypogonadism 85.84 3 7677154 (1), 9719154 (1), 17223984 (1)
    renal agenesis 74.31 8 17603054 (4), 10210557 (1), 10076881 (1), 15571757 (1)
    klinefelters syndrome 69.77 1 16882753 (1)
    single gene defects 67.50 1 18385259 (1)
    aplasia 65.10 4 8504298 (1), 1518845 (1), 8460158 (1), 11456260 (1)
    ichthyosis 56.18 1 17603054 (1)
    addisons disease 50.99 2 10727999 (1), 10527669 (1)
    hormone deficiency 42.75 1 15004876 (1)
    hypoplasia 41.12 1 10670750 (1)
    About this table

    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
    Kallmann Syndrome

    Human Gene Mutation Database: KAL1
    Genetic Association Database: KAL1
    Human Genome Epidemiology Navigator: KAL1 (4 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

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

    10/111 PubMed articles for KAL1 gene (see all 111 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 3730 HGNC: 6211 AceView: KAL1 Ensembl:ENSG00000011201 euGenes: HUgn3730
    ECgene: KAL1 H-InvDB: KAL1
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    GeneReviewshttp://www.genetests.org/query?gene=KAL1
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for KAL1:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for KAL1 Antibodies for KAL1
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for KAL1 Browse small molecules at Sigma-Aldrich
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     Antibodies for KAL1

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