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P23352 (KALM_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 149. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Anosmin-1
Alternative name(s):
Adhesion molecule-like X-linked
Kallmann syndrome protein
Gene names
Name:KAL1
Synonyms:ADMLX, KAL, KALIG1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length680 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

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. Ref.11

Subunit structure

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. Ref.11

Subcellular location

Cell membrane; Peripheral membrane protein. Secreted. Note: Proteolytic cleavage may release it from the cell surface into the extracellular space. Ref.8

Tissue specificity

Expressed in the cerebellum (at protein level). Ref.10

Post-translational modification

N-glycosylated. Ref.8

May be proteolytically cleaved at the cell surface and released from the cell surface. Ref.8

Involvement in disease

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 (Ref.26). Ref.11 Ref.13 Ref.14 Ref.15 Ref.16 Ref.17 Ref.18 Ref.19 Ref.20 Ref.21 Ref.22 Ref.23 Ref.24 Ref.26

Sequence similarities

Contains 4 fibronectin type-III domains.

Contains 1 WAP domain.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

FGFR1P113627EBI-5272188,EBI-1028277

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2424 Potential
Chain25 – 680656Anosmin-1
PRO_0000041395

Regions

Domain127 – 17650WAP
Domain186 – 287102Fibronectin type-III 1
Domain292 – 400109Fibronectin type-III 2
Domain425 – 52399Fibronectin type-III 3
Domain550 – 658109Fibronectin type-III 4

Amino acid modifications

Glycosylation711N-linked (GlcNAc...) Potential
Glycosylation2091N-linked (GlcNAc...) Potential
Glycosylation3001N-linked (GlcNAc...) Potential
Glycosylation4701N-linked (GlcNAc...) Potential
Glycosylation5531N-linked (GlcNAc...) Potential
Glycosylation5641N-linked (GlcNAc...) Potential
Disulfide bond49 ↔ 83 Ref.12
Disulfide bond53 ↔ 77 Ref.12
Disulfide bond86 ↔ 105 Ref.12
Disulfide bond90 ↔ 101 Ref.12
Disulfide bond116 ↔ 120 Ref.12

Natural variations

Natural variant1341C → G in HH1; phenotype consistent with Kallmann syndrome. Ref.24
VAR_065362
Natural variant1631C → R in HH1; phenotype consistent with Kallmann syndrome. Ref.24
VAR_065363
Natural variant1631C → Y in HH1; phenotype consistent with Kallmann syndrome. Ref.18
VAR_031012
Natural variant1631Missing in HH1; phenotype consistent with Kallmann syndrome. Ref.22
VAR_031011
Natural variant1721C → R in HH1; phenotype consistent with Kallmann syndrome. Ref.16
VAR_031013
Natural variant2171Y → D Probable disease-associated mutation found in a patient with Kallmann syndrome; the patient also carries mutation Ala-688 in SEMA3A. Ref.25
VAR_069207
Natural variant2621R → P in HH1; phenotype consistent with Kallmann syndrome. Ref.19
VAR_031014
Natural variant2671N → K in HH1; phenotype consistent with Kallmann syndrome; loss of effect on the migratory activity of GnRH neurons; complete loss of FGFR1-binding. Ref.11 Ref.13 Ref.17
VAR_007720
Natural variant3041N → S in HH1; phenotype consistent with Kallmann syndrome. Ref.21
VAR_031015
Natural variant3961S → L in HH1; phenotype consistent with Kallmann syndrome. Ref.20
Corresponds to variant rs137852517 [ dbSNP | Ensembl ].
VAR_031016
Natural variant5141E → K in HH1; phenotype consistent with Kallmann syndrome; loss of effect on the migratory activity of GnRH neurons; reduced FGFR1-binding. Ref.11 Ref.15 Ref.17 Ref.23
Corresponds to variant rs28937309 [ dbSNP | Ensembl ].
VAR_012742
Natural variant5171F → L in HH1; phenotype consistent with Kallmann syndrome; loss of effect on the migratory activity of GnRH neurons; Reduced FGFR1-binding. Ref.11 Ref.14 Ref.17
VAR_031017
Natural variant5341V → I. Ref.1 Ref.3 Ref.5 Ref.6 Ref.13 Ref.14 Ref.15 Ref.16 Ref.18 Ref.21
Corresponds to variant rs808119 [ dbSNP | Ensembl ].
VAR_007721
Natural variant5391E → K in HH1. Ref.23
VAR_065364
Natural variant5711W → R in HH1; phenotype consistent with Kallmann syndrome. Ref.19
VAR_031018
Natural variant5871V → L in HH1; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism; the patient also carries a mutation in FGFR1. Ref.26
VAR_069968
Natural variant6661K → M. Ref.22
VAR_031019
Natural variant6681R → H. Ref.14 Ref.22
VAR_031020

Experimental info

Sequence conflict481R → P in AAA59202. Ref.1
Sequence conflict481R → P in CAA42841. Ref.3
Sequence conflict481R → P in CAA57554. Ref.7
Sequence conflict70 – 712NN → VR in CAA57554. Ref.7
Sequence conflict3731E → K in CAA42841. Ref.3
Sequence conflict5401A → R in CAA42841. Ref.3

Sequences

Sequence LengthMass (Da)Tools
P23352 [UniParc].

Last modified March 6, 2007. Version 3.
Checksum: F491FE94FFD9250E

FASTA68076,112
        10         20         30         40         50         60 
MVPGVPGAVL TLCLWLAASS GCLAAGPGAA AARRLDESLS AGSVQRARCA SRCLSLQITR 

        70         80         90        100        110        120 
ISAFFQHFQN NGSLVWCQNH KQCSKCLEPC KESGDLRKHQ CQSFCEPLFP KKSYECLTSC 

       130        140        150        160        170        180 
EFLKYILLVK QGDCPAPEKA SGFAAACVES CEVDNECSGV KKCCSNGCGH TCQVPKTLYK 

       190        200        210        220        230        240 
GVPLKPRKEL RFTELQSGQL EVKWSSKFNI SIEPVIYVVQ RRWNYGIHPS EDDATHWQTV 

       250        260        270        280        290        300 
AQTTDERVQL TDIRPSRWYQ FRVAAVNVHG TRGFTAPSKH FRSSKDPSAP PAPANLRLAN 

       310        320        330        340        350        360 
STVNSDGSVT VTIVWDLPEE PDIPVHHYKV FWSWMVSSKS LVPTKKKRRK TTDGFQNSVI 

       370        380        390        400        410        420 
LEKLQPDCDY VVELQAITYW GQTRLKSAKV SLHFTSTHAT NNKEQLVKTR KGGIQTQLPF 

       430        440        450        460        470        480 
QRRRPTRPLE VGAPFYQDGQ LQVKVYWKKT EDPTVNRYHV RWFPEACAHN RTTGSEASSG 

       490        500        510        520        530        540 
MTHENYIILQ DLSFSCKYKV TVQPIRPKSH SKAEAVFFTT PPCSALKGKS HKPVGCLGEA 

       550        560        570        580        590        600 
GHVLSKVLAK PENLSASFIV QDVNITGHFS WKMAKANLYQ PMTGFQVTWA EVTTESRQNS 

       610        620        630        640        650        660 
LPNSIISQSQ ILPSDHYVLT VPNLRPSTLY RLEVQVLTPG GEGPATIKTF RTPELPPSSA 

       670        680 
HRSHLKHRHP HHYKPSPERY 

« Hide

References

« Hide 'large scale' references
[1]"The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules."
Legouis R., Hardelin J.-P., Levilliers J., Claverie J.-M., Compain S., Wunderle V., Millasseau P., le Paslier D., Cohen D., Caterina D., Bougueleret L., Delemarre-Van de Waal H., Lutfalla G., Weissenbach J., Petit C.
Cell 67:423-435(1991) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2)."
Albuisson J., Pecheux C., Carel J.-C., Lacombe D., Leheup B., Lapuzina P., Bouchard P., Legius E., Matthijs G., Wasniewska M., Delpech M., Young J., Hardelin J.-P., Dode C.
Hum. Mutat. 25:98-99(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HH1 PRO-262 AND ARG-571.
[20]"Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2."
Dode C., Teixeira L., Levilliers J., Fouveaut C., Bouchard P., Kottler M.-L., Lespinasse J., Lienhardt-Roussie A., Mathieu M., Moerman A., Morgan G., Murat A., Toublanc J.-E., Wolczynski S., Delpech M., Petit C., Young J., Hardelin J.-P.
PLoS Genet. 2:1648-1652(2006) [PubMed] [Europe PMC] [Abstract]
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]"SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome."
Hanchate N.K., Giacobini P., Lhuillier P., Parkash J., Espy C., Fouveaut C., Leroy C., Baron S., Campagne C., Vanacker C., Collier F., Cruaud C., Meyer V., Garcia-Pinero A., Dewailly D., Cortet-Rudelli C., Gersak K., Metz C. expand/collapse author list , Chabrier G., Pugeat M., Young J., Hardelin J.P., Prevot V., Dode C.
PLoS Genet. 8:E1002896-E1002896(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ASP-217.
[26]"Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism."
Miraoui H., Dwyer A.A., Sykiotis G.P., Plummer L., Chung W., Feng B., Beenken A., Clarke J., Pers T.H., Dworzynski P., Keefe K., Niedziela M., Raivio T., Crowley W.F. Jr., Seminara S.B., Quinton R., Hughes V.A., Kumanov P. expand/collapse author list , Young J., Yialamas M.A., Hall J.E., Van Vliet G., Chanoine J.P., Rubenstein J., Mohammadi M., Tsai P.S., Sidis Y., Lage K., Pitteloud N.
Am. J. Hum. Genet. 92:725-743(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HH1 LEU-587.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRA40351.
S17982.
RefSeqNP_000207.2. NM_000216.2.
UniGeneHs.521869.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1ZLGX-ray-A24-680[»]
ProteinModelPortalP23352.
SMRP23352. Positions 128-176, 245-380, 482-512, 546-663.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109933. 2 interactions.
IntActP23352. 3 interactions.
STRING9606.ENSP00000262648.

PTM databases

PhosphoSiteP23352.

Polymorphism databases

DMDM134048661.

Proteomic databases

PaxDbP23352.
PRIDEP23352.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000262648; ENSP00000262648; ENSG00000011201.
GeneID3730.
KEGGhsa:3730.
UCSCuc004csf.3. human.

Organism-specific databases

CTD3730.
GeneCardsGC0XM008456.
H-InvDBHIX0056280.
HGNCHGNC:6211. KAL1.
HPAHPA059335.
MIM300836. gene.
308700. phenotype.
neXtProtNX_P23352.
Orphanet478. Kallmann syndrome.
432. Normosmic congenital hypogonadotropic hypogonadism.
PharmGKBPA30012.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG269775.
HOGENOMHOG000113190.
HOVERGENHBG006198.
InParanoidP23352.
OMACKESWDL.
OrthoDBEOG7M3J0C.
PhylomeDBP23352.
TreeFamTF318736.

Gene expression databases

BgeeP23352.
CleanExHS_KAL1.
GenevestigatorP23352.

Family and domain databases

Gene3D2.60.40.10. 3 hits.
4.10.75.10. 1 hit.
InterProIPR003961. Fibronectin_type3.
IPR013783. Ig-like_fold.
IPR008197. WAP-type_4-diS_core.
[Graphical view]
PfamPF00041. fn3. 3 hits.
PF00095. WAP. 1 hit.
[Graphical view]
PRINTSPR00003. 4DISULPHCORE.
SMARTSM00060. FN3. 4 hits.
SM00217. WAP. 1 hit.
[Graphical view]
SUPFAMSSF49265. SSF49265. 2 hits.
SSF57256. SSF57256. 1 hit.
PROSITEPS50853. FN3. 4 hits.
PS51390. WAP. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceP23352.
GenomeRNAi3730.
NextBio14603.
PROP23352.
SOURCESearch...

Entry information

Entry nameKALM_HUMAN
AccessionPrimary (citable) accession number: P23352
Secondary accession number(s): B2RPF8
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1991
Last sequence update: March 6, 2007
Last modified: April 16, 2014
This is version 149 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM