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P23352

- KALM_HUMAN

UniProt

P23352 - KALM_HUMAN

Protein

Anosmin-1

Gene

KAL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 153 (01 Oct 2014)
      Sequence version 3 (06 Mar 2007)
      Previous versions | rss
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    Functioni

    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.By similarity1 Publication

    GO - Molecular functioni

    1. extracellular matrix structural constituent Source: ProtInc
    2. heparin binding Source: UniProtKB-KW
    3. protein binding Source: IntAct
    4. serine-type endopeptidase inhibitor activity Source: UniProtKB-KW

    GO - Biological processi

    1. axon guidance Source: ProtInc
    2. cell adhesion Source: ProtInc
    3. cellular component movement Source: ProtInc
    4. chemotaxis Source: ProtInc

    Keywords - Molecular functioni

    Protease inhibitor, Serine protease inhibitor

    Keywords - Biological processi

    Cell adhesion, Chemotaxis

    Keywords - Ligandi

    Heparin-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Anosmin-1
    Alternative name(s):
    Adhesion molecule-like X-linked
    Kallmann syndrome protein
    Gene namesi
    Name:KAL1
    Synonyms:ADMLX, KAL, KALIG1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:6211. KAL1.

    Subcellular locationi

    Cell membrane 1 Publication; Peripheral membrane protein 1 Publication. Secreted 1 Publication
    Note: Proteolytic cleavage may release it from the cell surface into the extracellular space.

    GO - Cellular componenti

    1. extracellular space Source: ProtInc
    2. plasma membrane Source: UniProtKB-SubCell
    3. proteinaceous extracellular matrix Source: ProtInc

    Keywords - Cellular componenti

    Cell membrane, Membrane, Secreted

    Pathology & Biotechi

    Involvement in diseasei

    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).12 Publications
    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).1 Publication
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti134 – 1341C → G in HH1; phenotype consistent with Kallmann syndrome. 1 Publication
    VAR_065362
    Natural varianti163 – 1631C → R in HH1; phenotype consistent with Kallmann syndrome. 1 Publication
    VAR_065363
    Natural varianti163 – 1631C → Y in HH1; phenotype consistent with Kallmann syndrome. 1 Publication
    VAR_031012
    Natural varianti163 – 1631Missing in HH1; phenotype consistent with Kallmann syndrome. 1 Publication
    VAR_031011
    Natural varianti172 – 1721C → R in HH1; phenotype consistent with Kallmann syndrome. 1 Publication
    VAR_031013
    Natural varianti262 – 2621R → P in HH1; phenotype consistent with Kallmann syndrome. 1 Publication
    VAR_031014
    Natural varianti267 – 2671N → K in HH1; phenotype consistent with Kallmann syndrome; loss of effect on the migratory activity of GnRH neurons; complete loss of FGFR1-binding. 1 Publication
    VAR_007720
    Natural varianti304 – 3041N → S in HH1; phenotype consistent with Kallmann syndrome. 1 Publication
    VAR_031015
    Natural varianti396 – 3961S → L in HH1; phenotype consistent with Kallmann syndrome. 1 Publication
    Corresponds to variant rs137852517 [ dbSNP | Ensembl ].
    VAR_031016
    Natural varianti514 – 5141E → K in HH1; phenotype consistent with Kallmann syndrome; loss of effect on the migratory activity of GnRH neurons; reduced FGFR1-binding. 2 Publications
    Corresponds to variant rs28937309 [ dbSNP | Ensembl ].
    VAR_012742
    Natural varianti517 – 5171F → L in HH1; phenotype consistent with Kallmann syndrome; loss of effect on the migratory activity of GnRH neurons; Reduced FGFR1-binding. 1 Publication
    VAR_031017
    Natural varianti539 – 5391E → K in HH1. 1 Publication
    VAR_065364
    Natural varianti571 – 5711W → R in HH1; phenotype consistent with Kallmann syndrome. 1 Publication
    VAR_031018
    Natural varianti587 – 5871V → L in HH1; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism; the patient also carries a mutation in FGFR1. 1 Publication
    VAR_069968

    Keywords - Diseasei

    Disease mutation, Hypogonadotropic hypogonadism, Kallmann syndrome

    Organism-specific databases

    MIMi308700. phenotype.
    Orphaneti478. Kallmann syndrome.
    432. Normosmic congenital hypogonadotropic hypogonadism.
    PharmGKBiPA30012.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2424Sequence AnalysisAdd
    BLAST
    Chaini25 – 680656Anosmin-1PRO_0000041395Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi49 ↔ 831 PublicationPROSITE-ProRule annotation
    Disulfide bondi53 ↔ 771 PublicationPROSITE-ProRule annotation
    Glycosylationi71 – 711N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi86 ↔ 1051 PublicationPROSITE-ProRule annotation
    Disulfide bondi90 ↔ 1011 PublicationPROSITE-ProRule annotation
    Disulfide bondi116 ↔ 1201 PublicationPROSITE-ProRule annotation
    Glycosylationi209 – 2091N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi300 – 3001N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi470 – 4701N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi553 – 5531N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi564 – 5641N-linked (GlcNAc...)Sequence Analysis

    Post-translational modificationi

    N-glycosylated.1 Publication
    May be proteolytically cleaved at the cell surface and released from the cell surface.1 Publication

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiP23352.
    PRIDEiP23352.

    PTM databases

    PhosphoSiteiP23352.

    Expressioni

    Tissue specificityi

    Expressed in the cerebellum (at protein level).1 Publication

    Gene expression databases

    BgeeiP23352.
    CleanExiHS_KAL1.
    GenevestigatoriP23352.

    Organism-specific databases

    HPAiHPA059335.

    Interactioni

    Subunit structurei

    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 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    FGFR1P113627EBI-5272188,EBI-1028277

    Protein-protein interaction databases

    BioGridi109933. 2 interactions.
    IntActiP23352. 3 interactions.
    STRINGi9606.ENSP00000262648.

    Structurei

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1ZLGX-ray-A24-680[»]
    ProteinModelPortaliP23352.
    SMRiP23352. Positions 179-283, 309-385, 439-514.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP23352.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini127 – 17650WAPPROSITE-ProRule annotationAdd
    BLAST
    Domaini186 – 287102Fibronectin type-III 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini292 – 400109Fibronectin type-III 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini425 – 52399Fibronectin type-III 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini550 – 658109Fibronectin type-III 4PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 4 fibronectin type-III domains.PROSITE-ProRule annotation
    Contains 1 WAP domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Signal

    Phylogenomic databases

    eggNOGiNOG269775.
    HOGENOMiHOG000113190.
    HOVERGENiHBG006198.
    InParanoidiP23352.
    OMAiCKESWDL.
    OrthoDBiEOG7M3J0C.
    PhylomeDBiP23352.
    TreeFamiTF318736.

    Family and domain databases

    Gene3Di2.60.40.10. 3 hits.
    4.10.75.10. 1 hit.
    InterProiIPR003961. Fibronectin_type3.
    IPR013783. Ig-like_fold.
    IPR008197. WAP.
    [Graphical view]
    PfamiPF00041. fn3. 3 hits.
    PF00095. WAP. 1 hit.
    [Graphical view]
    PRINTSiPR00003. 4DISULPHCORE.
    SMARTiSM00060. FN3. 4 hits.
    SM00217. WAP. 1 hit.
    [Graphical view]
    SUPFAMiSSF49265. SSF49265. 2 hits.
    SSF57256. SSF57256. 1 hit.
    PROSITEiPS50853. FN3. 4 hits.
    PS51390. WAP. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    P23352-1 [UniParc]FASTAAdd to Basket

    « Hide

    MVPGVPGAVL TLCLWLAASS GCLAAGPGAA AARRLDESLS AGSVQRARCA    50
    SRCLSLQITR ISAFFQHFQN NGSLVWCQNH KQCSKCLEPC KESGDLRKHQ 100
    CQSFCEPLFP KKSYECLTSC EFLKYILLVK QGDCPAPEKA SGFAAACVES 150
    CEVDNECSGV KKCCSNGCGH TCQVPKTLYK GVPLKPRKEL RFTELQSGQL 200
    EVKWSSKFNI SIEPVIYVVQ RRWNYGIHPS EDDATHWQTV AQTTDERVQL 250
    TDIRPSRWYQ FRVAAVNVHG TRGFTAPSKH FRSSKDPSAP PAPANLRLAN 300
    STVNSDGSVT VTIVWDLPEE PDIPVHHYKV FWSWMVSSKS LVPTKKKRRK 350
    TTDGFQNSVI LEKLQPDCDY VVELQAITYW GQTRLKSAKV SLHFTSTHAT 400
    NNKEQLVKTR KGGIQTQLPF QRRRPTRPLE VGAPFYQDGQ LQVKVYWKKT 450
    EDPTVNRYHV RWFPEACAHN RTTGSEASSG MTHENYIILQ DLSFSCKYKV 500
    TVQPIRPKSH SKAEAVFFTT PPCSALKGKS HKPVGCLGEA GHVLSKVLAK 550
    PENLSASFIV QDVNITGHFS WKMAKANLYQ PMTGFQVTWA EVTTESRQNS 600
    LPNSIISQSQ ILPSDHYVLT VPNLRPSTLY RLEVQVLTPG GEGPATIKTF 650
    RTPELPPSSA HRSHLKHRHP HHYKPSPERY 680
    Length:680
    Mass (Da):76,112
    Last modified:March 6, 2007 - v3
    Checksum:iF491FE94FFD9250E
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti48 – 481R → P in AAA59202. (PubMed:1913827)Curated
    Sequence conflicti48 – 481R → P in CAA42841. (PubMed:1922361)Curated
    Sequence conflicti48 – 481R → P in CAA57554. (PubMed:7590336)Curated
    Sequence conflicti70 – 712NN → VR in CAA57554. (PubMed:7590336)Curated
    Sequence conflicti373 – 3731E → K in CAA42841. (PubMed:1922361)Curated
    Sequence conflicti540 – 5401A → R in CAA42841. (PubMed:1922361)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti134 – 1341C → G in HH1; phenotype consistent with Kallmann syndrome. 1 Publication
    VAR_065362
    Natural varianti163 – 1631C → R in HH1; phenotype consistent with Kallmann syndrome. 1 Publication
    VAR_065363
    Natural varianti163 – 1631C → Y in HH1; phenotype consistent with Kallmann syndrome. 1 Publication
    VAR_031012
    Natural varianti163 – 1631Missing in HH1; phenotype consistent with Kallmann syndrome. 1 Publication
    VAR_031011
    Natural varianti172 – 1721C → R in HH1; phenotype consistent with Kallmann syndrome. 1 Publication
    VAR_031013
    Natural varianti217 – 2171Y → D Probable disease-associated mutation found in a patient with Kallmann syndrome; the patient also carries mutation Ala-688 in SEMA3A. 1 Publication
    VAR_069207
    Natural varianti262 – 2621R → P in HH1; phenotype consistent with Kallmann syndrome. 1 Publication
    VAR_031014
    Natural varianti267 – 2671N → K in HH1; phenotype consistent with Kallmann syndrome; loss of effect on the migratory activity of GnRH neurons; complete loss of FGFR1-binding. 1 Publication
    VAR_007720
    Natural varianti304 – 3041N → S in HH1; phenotype consistent with Kallmann syndrome. 1 Publication
    VAR_031015
    Natural varianti396 – 3961S → L in HH1; phenotype consistent with Kallmann syndrome. 1 Publication
    Corresponds to variant rs137852517 [ dbSNP | Ensembl ].
    VAR_031016
    Natural varianti514 – 5141E → K in HH1; phenotype consistent with Kallmann syndrome; loss of effect on the migratory activity of GnRH neurons; reduced FGFR1-binding. 2 Publications
    Corresponds to variant rs28937309 [ dbSNP | Ensembl ].
    VAR_012742
    Natural varianti517 – 5171F → L in HH1; phenotype consistent with Kallmann syndrome; loss of effect on the migratory activity of GnRH neurons; Reduced FGFR1-binding. 1 Publication
    VAR_031017
    Natural varianti534 – 5341V → I.10 Publications
    Corresponds to variant rs808119 [ dbSNP | Ensembl ].
    VAR_007721
    Natural varianti539 – 5391E → K in HH1. 1 Publication
    VAR_065364
    Natural varianti571 – 5711W → R in HH1; phenotype consistent with Kallmann syndrome. 1 Publication
    VAR_031018
    Natural varianti587 – 5871V → L in HH1; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism; the patient also carries a mutation in FGFR1. 1 Publication
    VAR_069968
    Natural varianti666 – 6661K → M.1 Publication
    VAR_031019
    Natural varianti668 – 6681R → H.2 Publications
    VAR_031020

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M97252 mRNA. Translation: AAA59202.1.
    S60085 mRNA. Translation: AAB20108.1. Sequence problems.
    X60299 mRNA. Translation: CAA42841.1.
    AC005184 Genomic DNA. No translation available.
    AC006062 Genomic DNA. No translation available.
    AC096511 Genomic DNA. No translation available.
    CH471074 Genomic DNA. Translation: EAW98759.1.
    BC137426 mRNA. Translation: AAI37427.1.
    BC137427 mRNA. Translation: AAI37428.1.
    X82034 Genomic DNA. Translation: CAA57554.1.
    CCDSiCCDS14130.1.
    PIRiA40351.
    S17982.
    RefSeqiNP_000207.2. NM_000216.2.
    UniGeneiHs.521869.

    Genome annotation databases

    EnsembliENST00000262648; ENSP00000262648; ENSG00000011201.
    GeneIDi3730.
    KEGGihsa:3730.
    UCSCiuc004csf.3. human.

    Polymorphism databases

    DMDMi134048661.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M97252 mRNA. Translation: AAA59202.1 .
    S60085 mRNA. Translation: AAB20108.1 . Sequence problems.
    X60299 mRNA. Translation: CAA42841.1 .
    AC005184 Genomic DNA. No translation available.
    AC006062 Genomic DNA. No translation available.
    AC096511 Genomic DNA. No translation available.
    CH471074 Genomic DNA. Translation: EAW98759.1 .
    BC137426 mRNA. Translation: AAI37427.1 .
    BC137427 mRNA. Translation: AAI37428.1 .
    X82034 Genomic DNA. Translation: CAA57554.1 .
    CCDSi CCDS14130.1.
    PIRi A40351.
    S17982.
    RefSeqi NP_000207.2. NM_000216.2.
    UniGenei Hs.521869.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1ZLG X-ray - A 24-680 [» ]
    ProteinModelPortali P23352.
    SMRi P23352. Positions 179-283, 309-385, 439-514.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109933. 2 interactions.
    IntActi P23352. 3 interactions.
    STRINGi 9606.ENSP00000262648.

    PTM databases

    PhosphoSitei P23352.

    Polymorphism databases

    DMDMi 134048661.

    Proteomic databases

    PaxDbi P23352.
    PRIDEi P23352.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000262648 ; ENSP00000262648 ; ENSG00000011201 .
    GeneIDi 3730.
    KEGGi hsa:3730.
    UCSCi uc004csf.3. human.

    Organism-specific databases

    CTDi 3730.
    GeneCardsi GC0XM008456.
    GeneReviewsi KAL1.
    H-InvDB HIX0056280.
    HGNCi HGNC:6211. KAL1.
    HPAi HPA059335.
    MIMi 300836. gene.
    308700. phenotype.
    neXtProti NX_P23352.
    Orphaneti 478. Kallmann syndrome.
    432. Normosmic congenital hypogonadotropic hypogonadism.
    PharmGKBi PA30012.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG269775.
    HOGENOMi HOG000113190.
    HOVERGENi HBG006198.
    InParanoidi P23352.
    OMAi CKESWDL.
    OrthoDBi EOG7M3J0C.
    PhylomeDBi P23352.
    TreeFami TF318736.

    Miscellaneous databases

    EvolutionaryTracei P23352.
    GenomeRNAii 3730.
    NextBioi 14603.
    PROi P23352.
    SOURCEi Search...

    Gene expression databases

    Bgeei P23352.
    CleanExi HS_KAL1.
    Genevestigatori P23352.

    Family and domain databases

    Gene3Di 2.60.40.10. 3 hits.
    4.10.75.10. 1 hit.
    InterProi IPR003961. Fibronectin_type3.
    IPR013783. Ig-like_fold.
    IPR008197. WAP.
    [Graphical view ]
    Pfami PF00041. fn3. 3 hits.
    PF00095. WAP. 1 hit.
    [Graphical view ]
    PRINTSi PR00003. 4DISULPHCORE.
    SMARTi SM00060. FN3. 4 hits.
    SM00217. WAP. 1 hit.
    [Graphical view ]
    SUPFAMi SSF49265. SSF49265. 2 hits.
    SSF57256. SSF57256. 1 hit.
    PROSITEi PS50853. FN3. 4 hits.
    PS51390. WAP. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ILE-534.
    2. "Structure of the X-linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome."
      del Castillo I., Cohen-Salmon M., Blanchard S., Lutfalla G., Petit C.
      Nat. Genet. 2:305-310(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: SEQUENCE REVISION.
    3. "A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules."
      Franco B., Guioli S., Pragliola A., Inceri B., Bardoni B., Tonlorenzi R., Carrozo R., Maestrini E., Pieretti M., Taillon-Miller P., Brown C.J., Willard H.F., Lawrence C., Persico N.G., Camerino G., Ballabio A.
      Nature 353:529-536(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ILE-534.
    4. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ILE-534.
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ILE-534.
      Tissue: Brain.
    7. "Characterization of the promoter of the human KAL gene, responsible for the X-chromosome-linked Kallmann syndrome."
      Cohen-Salmon M., Tronche F., del Castillo I., Petit C.
      Gene 164:235-242(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-71.
    8. "The Kallmann syndrome gene product expressed in COS cells is cleaved on the cell surface to yield a diffusible component."
      Rugarli E.I., Ghezzi C., Valsecchi V., Ballabio A.
      Hum. Mol. Genet. 5:1109-1115(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, GLYCOSYLATION, PROTEOLYTIC CLEAVAGE.
    9. "Initial characterization of anosmin-1, a putative extracellular matrix protein synthesized by definite neuronal cell populations in the central nervous system."
      Soussi-Yanicostas N., Hardelin J.-P., del Mar Arroyo-Jimenez M., Ardouin O., Legouis R., Levilliers J., Traincard F., Betton J.-M., Cabanie L., Petit C.
      J. Cell Sci. 109:1749-1757(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION.
    10. "Anosmin-1, defective in the X-linked form of Kallmann syndrome, promotes axonal branch formation from olfactory bulb output neurons."
      Soussi-Yanicostas N., de Castro F., Julliard A.K., Perfettini I., Chedotal A., Petit C.
      Cell 109:217-228(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    11. "Novel mechanisms of fibroblast growth factor receptor 1 regulation by extracellular matrix protein anosmin-1."
      Hu Y., Guimond S.E., Travers P., Cadman S., Hohenester E., Turnbull J.E., Kim S.H., Bouloux P.M.
      J. Biol. Chem. 284:29905-29920(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH FGFR1, CHARACTERIZATION OF VARIANTS HH1 LYS-267; LYS-514 AND LEU-517, HEPARIN-BINDING.
    12. "Extended and flexible domain solution structure of the extracellular matrix protein anosmin-1 by X-ray scattering, analytical ultracentrifugation and constrained modelling."
      Hu Y., Sun Z., Eaton J.T., Bouloux P.M., Perkins S.J.
      J. Mol. Biol. 350:553-570(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY SCATTERING SOLUTION STRUCTURE OF 24-680, DISULFIDE BONDS.
    13. "Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome."
      Hardelin J.-P., Levilliers J., Blanchard S., Carel J.-C., Leutenegger M., Pinard-Bertelletto J.-P., Bouloux P., Petit C.
      Hum. Mol. Genet. 2:373-377(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HH1 LYS-267, VARIANT ILE-534.
    14. "Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency."
      Georgopoulos N.A., Pralong F.P., Seidman C.E., Seidman J.G., Crowley W.F. Jr., Vallejo M.
      J. Clin. Endocrinol. Metab. 82:213-217(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HH1 LEU-517, VARIANTS ILE-534 AND HIS-668.
    15. "A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome."
      Maya-Nunez G., Zenteno J.C., Ulloa-Aguirre A., Kofman-Alfaro S., Mendez J.P.
      J. Clin. Endocrinol. Metab. 83:1650-1653(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HH1 LYS-514, VARIANT ILE-534.
    16. "The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics."
      Oliveira L.M.B., Seminara S.B., Beranova M., Hayes F.J., Valkenburgh S.B., Schipani E., Costa E.M.F., Latronico A.C., Crowley W.F. Jr., Vallejo M.
      J. Clin. Endocrinol. Metab. 86:1532-1538(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HH1 ARG-172, VARIANT ILE-534.
    17. "The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons."
      Cariboni A., Pimpinelli F., Colamarino S., Zaninetti R., Piccolella M., Rumio C., Piva F., Rugarli E.I., Maggi R.
      Hum. Mol. Genet. 13:2781-2791(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANTS HH1 LYS-267; LYS-514 AND LEU-517.
    18. "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."
      Sato N., Katsumata N., Kagami M., Hasegawa T., Hori N., Kawakita S., Minowada S., Shimotsuka A., Shishiba Y., Yokozawa M., Yasuda T., Nagasaki K., Hasegawa D., Hasegawa Y., Tachibana K., Naiki Y., Horikawa R., Tanaka T., Ogata T.
      J. Clin. Endocrinol. Metab. 89:1079-1088(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HH1 TYR-163, VARIANT ILE-534.
    19. Cited for: VARIANTS HH1 PRO-262 AND ARG-571.
    20. Cited for: VARIANT HH1 LEU-396.
    21. "Clinical assessment and molecular analysis of GnRHR and KAL1 genes in males with idiopathic hypogonadotrophic hypogonadism."
      Versiani B.R., Trarbach E., Koenigkam-Santos M., dos Santos A.C., Elias L.L.K., Moreira A.C., Latronico A.C., de Castro M.
      Clin. Endocrinol. (Oxf.) 66:173-179(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HH1 SER-304, VARIANT ILE-534.
    22. "KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans."
      Bhagavath B., Xu N., Ozata M., Rosenfield R.L., Bick D.P., Sherins R.J., Layman L.C.
      Mol. Hum. Reprod. 13:165-170(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HH1 CYS-163 DEL, VARIANTS MET-666 AND HIS-668.
    23. "A fertile male patient with Kallmann syndrome and two missense mutations in the KAL1 gene."
      Zhang S., Wang T., Yang J., Liu Z., Wang S., Liu J.
      Fertil. Steril. 95:1789-1792(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HH1 LYS-514 AND LYS-539.
    24. "Identification of two novel missense mutations in the KAL1 gene in Han Chinese subjects with Kallmann Syndrome."
      Jap T.S., Chiu C.Y., Lirng J.F., Won G.S.
      J. Endocrinol. Invest. 34:53-59(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HH1 GLY-134 AND ARG-163.
    25. Cited for: VARIANT ASP-217.
    26. Cited for: VARIANT HH1 LEU-587.

    Entry informationi

    Entry nameiKALM_HUMAN
    AccessioniPrimary (citable) accession number: P23352
    Secondary accession number(s): B2RPF8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1991
    Last sequence update: March 6, 2007
    Last modified: October 1, 2014
    This is version 153 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome X
      Human chromosome X: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3