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)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › 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	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. Ref.11 Ref.12 Ref.13 Ref.14 Ref.15 Ref.16 Ref.17 Ref.18 Ref.19 Ref.20 Ref.21 Ref.22 Ref.23
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	Glycoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	axon guidance Traceable author statement. Source: ProtInc cell adhesion Traceable author statement. Source: ProtInc cellular component movement Traceable author statement. Source: ProtInc
Cellular component	extracellular space Traceable author statement. Source: ProtInc plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell proteinaceous extracellular matrix Traceable author statement. Source: ProtInc
Molecular function	extracellular matrix structural constituent Traceable author statement. 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...

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
Natural variations
	Natural variant	134	1	C → G in KAL1. Ref.23		VAR_065362
	Natural variant	163	1	C → R in KAL1. Ref.23		VAR_065363
	Natural variant	163	1	C → Y in KAL1. Ref.17		VAR_031012
	Natural variant	163	1	Missing in KAL1.		VAR_031011
	Natural variant	172	1	C → R in KAL1. Ref.15		VAR_031013
	Natural variant	262	1	R → P in KAL1. Ref.18		VAR_031014
	Natural variant	267	1	N → K in KAL1; loss of effect on the migratory activity of GnRH neurons; complete loss of FGFR1-binding. Ref.11 Ref.12 Ref.16		VAR_007720
	Natural variant	304	1	N → S in KAL1. Ref.20		VAR_031015
	Natural variant	396	1	S → L in KAL1. Ref.19		VAR_031016
	Natural variant	514	1	E → K in KAL1; loss of effect on the migratory activity of GnRH neurons; reduced FGFR1-binding. Ref.11 Ref.14 Ref.16 Ref.22 Corresponds to variant rs28937309 [ dbSNP | Ensembl ].		VAR_012742
	Natural variant	517	1	F → L in KAL1; loss of effect on the migratory activity of GnRH neurons; Reduced FGFR1-binding. Ref.11 Ref.13 Ref.16		VAR_031017
	Natural variant	534	1	V → I. Ref.1 Ref.3 Ref.5 Ref.6 Ref.12 Ref.13 Ref.14 Ref.15 Ref.17 Ref.20 Corresponds to variant rs808119 [ dbSNP | Ensembl ].		VAR_007721
	Natural variant	539	1	E → K in KAL1. Ref.22		VAR_065364
	Natural variant	571	1	W → R in KAL1. Ref.18		VAR_031018
	Natural variant	666	1	K → M. Ref.21		VAR_031019
	Natural variant	668	1	R → H. Ref.13 Ref.21		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: 1913827] [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: 1303284] [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: 1922361] [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: 15772651] [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: 15489334] [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: 7590336] [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: 8842728] [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: 8832397] [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: 12007408] [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: 19696444] [Abstract] Cited for: FUNCTION, INTERACTION WITH FGFR1, CHARACTERIZATION OF VARIANTS KAL1 LYS-267; LYS-514 AND LEU-517, HEPARIN-BINDING.
[12]	"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: 8504298] [Abstract] Cited for: VARIANT KAL1 LYS-267, VARIANT ILE-534.
[13]	"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: 8989261] [Abstract] Cited for: VARIANT KAL1 LEU-517, VARIANTS ILE-534 AND HIS-668.
[14]	"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: 9589672] [Abstract] Cited for: VARIANT KAL1 LYS-514, VARIANT ILE-534.
[15]	"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: 11297579] [Abstract] Cited for: VARIANT KAL1 ARG-172, VARIANT ILE-534.
[16]	"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: 15471890] [Abstract] Cited for: CHARACTERIZATION OF VARIANTS KAL1 LYS-267; LYS-514 AND LEU-517.
[17]	"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: 15001591] [Abstract] Cited for: VARIANT KAL1 TYR-163, VARIANT ILE-534.
[18]	"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: 15605412] [Abstract] Cited for: VARIANTS KAL1 PRO-262 AND ARG-571.
[19]	"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: 17054399] [Abstract] Cited for: VARIANT KAL1 LEU-396.
[20]	"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: 17223984] [Abstract] Cited for: VARIANT KAL1 SER-304, VARIANT ILE-534.
[21]	"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: 17213338] [Abstract] Cited for: VARIANT KAL1 CYS-163 DEL, VARIANTS MET-666 AND HIS-668.
[22]	"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: 21168128] [Abstract] Cited for: VARIANTS KAL1 LYS-514 AND LYS-539.
[23]	"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: 20530987] [Abstract] Cited for: VARIANTS KAL1 GLY-134 AND ARG-163.
+	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.

SMR

P23352. Positions 128-176, 245-276, 289-383, 439-521, 548-656.

ModBase

Search...

Protein-protein interaction databases

STRING

P23352.

PTM databases

PhosphoSite

P23352.

Polymorphism databases

DMDM

134048661.

Proteomic databases

PRIDE

P23352.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000262648; ENSP00000262648; ENSG00000011201.

GeneID

3730.

KEGG

hsa:3730.

NMPDR

fig|9606.3.peg.32416.

UCSC

uc004csf.1. 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

Search...

Phylogenomic databases

eggNOG

prNOG16515.

GeneTree

ENSGT00440000033720.

HOGENOM

HBG445029.

HOVERGEN

HBG006198.

InParanoid

P23352.

OMA

PKNLYKG.

OrthoDB

EOG45QHCR.

PhylomeDB

P23352.

Gene expression databases

ArrayExpress

P23352.

Bgee

P23352.

CleanEx

HS_KAL1.

Genevestigator

P23352.

GermOnline

ENSG00000011201. Homo sapiens.

Family and domain databases

InterPro

IPR015874. 4-disulphide_core.
IPR003961. Fibronectin_type3.
IPR013783. Ig-like_fold.
IPR008197. Whey_acidic_protein_4-diS_core.
[Graphical view]

Gene3D

G3DSA:2.60.40.10. Ig-like_fold. 3 hits.
G3DSA:4.10.75.10. Whey_acidic_protein_4-diS_core. 1 hit.

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

NextBio

14603.

SOURCE

Search...

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:	January 25, 2012
This is version 126 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.