P23352 (KALM_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Anosmin-1

Alternative name(s):
Adhesion molecule-like X-linked
Kallmann syndrome protein

Gene names

Name:	KAL1
Synonyms:	ADMLX, KAL, KALIG1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	680 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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 the gene represented in this entry. 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
Sequence similarities	Contains 4 fibronectin type-III domains. Contains 1 WAP domain.

Ontologies

Keywords
Biological process	Cell adhesion Chemotaxis
Cellular component	Cell membrane Membrane Secreted
Coding sequence diversity	Polymorphism
Disease	Disease mutation Hypogonadotropic hypogonadism Kallmann syndrome
Domain	Repeat Signal
Ligand	Heparin-binding
Molecular function	Protease inhibitor Serine protease inhibitor
PTM	Disulfide bond Glycoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	axon guidance Traceable author statement Ref.3. Source: ProtInc cell adhesion Traceable author statement Ref.1Ref.3. Source: ProtInc cellular component movement Traceable author statement Ref.3. Source: ProtInc
Cellular_component	extracellular space Traceable author statement Ref.8. Source: ProtInc plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell proteinaceous extracellular matrix Traceable author statement Ref.9. Source: ProtInc
Molecular_function	extracellular matrix structural constituent Traceable author statement Ref.8. Source: ProtInc heparin binding Inferred from electronic annotation. Source: UniProtKB-KW serine-type endopeptidase inhibitor activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
FGFR1	P11362	7	EBI-5272188,EBI-1028277

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 24	24	Potential
	Chain	25 – 680	656	Anosmin-1		PRO_0000041395
Regions
	Domain	127 – 176	50	WAP
	Domain	183 – 284	102	Fibronectin type-III 1
	Domain	290 – 394	105	Fibronectin type-III 2
	Domain	425 – 520	96	Fibronectin type-III 3
	Domain	547 – 652	106	Fibronectin type-III 4
Amino acid modifications
	Glycosylation	71	1	N-linked (GlcNAc...) Potential
	Glycosylation	209	1	N-linked (GlcNAc...) Potential
	Glycosylation	300	1	N-linked (GlcNAc...) Potential
	Glycosylation	470	1	N-linked (GlcNAc...) Potential
	Glycosylation	553	1	N-linked (GlcNAc...) Potential
	Glycosylation	564	1	N-linked (GlcNAc...) Potential
	Disulfide bond	49 ↔ 83		Ref.12
	Disulfide bond	53 ↔ 77		Ref.12
	Disulfide bond	86 ↔ 105		Ref.12
	Disulfide bond	90 ↔ 101		Ref.12
	Disulfide bond	116 ↔ 120		Ref.12
Natural variations
	Natural variant	134	1	C → G in HH1; phenotype consistent with Kallmann syndrome. Ref.24		VAR_065362
	Natural variant	163	1	C → R in HH1; phenotype consistent with Kallmann syndrome. Ref.24		VAR_065363
	Natural variant	163	1	C → Y in HH1; phenotype consistent with Kallmann syndrome. Ref.18		VAR_031012
	Natural variant	163	1	Missing in HH1; phenotype consistent with Kallmann syndrome. Ref.22		VAR_031011
	Natural variant	172	1	C → R in HH1; phenotype consistent with Kallmann syndrome. Ref.16		VAR_031013
	Natural variant	217	1	Y → 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 variant	262	1	R → P in HH1; phenotype consistent with Kallmann syndrome. Ref.19		VAR_031014
	Natural variant	267	1	N → 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 variant	304	1	N → S in HH1; phenotype consistent with Kallmann syndrome. Ref.21		VAR_031015
	Natural variant	396	1	S → L in HH1; phenotype consistent with Kallmann syndrome. Ref.20		VAR_031016
	Natural variant	514	1	E → 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 variant	517	1	F → 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 variant	534	1	V → 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 variant	539	1	E → K in HH1. Ref.23		VAR_065364
	Natural variant	571	1	W → R in HH1; phenotype consistent with Kallmann syndrome. Ref.19		VAR_031018
	Natural variant	666	1	K → M. Ref.22		VAR_031019
	Natural variant	668	1	R → H. Ref.14 Ref.22		VAR_031020
Experimental info
	Sequence conflict	48	1	R → P in AAA59202. Ref.1
	Sequence conflict	48	1	R → P in CAA42841. Ref.3
	Sequence conflict	48	1	R → P in CAA57554. Ref.7
	Sequence conflict	70 – 71	2	NN → VR in CAA57554. Ref.7
	Sequence conflict	373	1	E → K in CAA42841. Ref.3
	Sequence conflict	540	1	A → R in CAA42841. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	P23352 [UniParc]. Last modified March 6, 2007. Version 3. Checksum: F491FE94FFD9250E	FASTA	680	76,112
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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.
+	Additional computationally mapped references.

Web resources

GeneReviews

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.

IPI

IPI00011174.

PIR

A40351.
S17982.

RefSeq

NP_000207.2. NM_000216.2.

UniGene

Hs.521869.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1ZLG	X-ray	-	A	24-680	[»]

ProteinModelPortal

P23352.

ModBase

Search...

Protein-protein interaction databases

IntAct

P23352. 3 interactions.

STRING

9606.ENSP00000262648.

PTM databases

PhosphoSite

P23352.

Polymorphism databases

DMDM

134048661.

Proteomic databases

PaxDb

P23352.

PRIDE

P23352.

Protocols and materials databases

StructuralBiologyKnowledgebase

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Genome annotation databases

Ensembl

ENST00000262648; ENSP00000262648; ENSG00000011201.

GeneID

3730.

KEGG

hsa:3730.

UCSC

uc004csf.3. human.

Organism-specific databases

CTD

3730.

GeneCards

GC0XM008456.

H-InvDB

HIX0056280.

HGNC

HGNC:6211. KAL1.

MIM

300836. gene.
308700. phenotype.

neXtProt

NX_P23352.

Orphanet

478. Kallmann syndrome.

PharmGKB

PA30012.

GenAtlas

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Phylogenomic databases

eggNOG

NOG269775.

HOGENOM

HOG000113190.

HOVERGEN

HBG006198.

InParanoid

P23352.

OMA

PKNLYKG.

OrthoDB

EOG45QHCR.

PhylomeDB

P23352.

Gene expression databases

Bgee

P23352.

CleanEx

HS_KAL1.

Genevestigator

P23352.

GermOnline

ENSG00000011201. Homo sapiens.

Family and domain databases

Gene3D

2.60.40.10. 3 hits.
4.10.75.10. 1 hit.

InterPro

IPR003961. Fibronectin_type3.
IPR013783. Ig-like_fold.
IPR008197. WAP-type_4-diS_core.
[Graphical view]

Pfam

PF00041. fn3. 3 hits.
PF00095. WAP. 1 hit.
[Graphical view]

PRINTS

PR00003. 4DISULPHCORE.

SMART

SM00060. FN3. 4 hits.
SM00217. WAP. 1 hit.
[Graphical view]

SUPFAM

SSF49265. FN_III-like. 3 hits.
SSF57256. WAP. 1 hit.

PROSITE

PS50853. FN3. 4 hits.
PS51390. WAP. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

EvolutionaryTrace

P23352.

GenomeRNAi

3730.

NextBio

14603.

SOURCE

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Entry information

Entry name

KALM_HUMAN

Accession

Primary (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:	May 29, 2013
This is version 139 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.