SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

P23352

- KALM_HUMAN

UniProt

P23352 - KALM_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Anosmin-1

Gene
KAL1, ADMLX, KAL, KALIG1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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.1 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
Complete GO annotation...

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

GO - Cellular componenti

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

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).
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 (1 Publication).14 Publications
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. 3 Publications
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. 4 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. 3 Publications
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 – 2424 Reviewed predictionAdd
BLAST
Chaini25 – 680656Anosmin-1PRO_0000041395Add
BLAST

Amino acid modifications

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

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.

Miscellaneous databases

EvolutionaryTraceiP23352.

Family & Domainsi

Domains and Repeats

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

Sequence similaritiesi

Contains 1 WAP domain.

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

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. 3 Publications
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. 4 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. 3 Publications
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 conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti48 – 481R → P in AAA59202. 1 Publication
Sequence conflicti48 – 481R → P in CAA42841. 1 Publication
Sequence conflicti48 – 481R → P in CAA57554. 1 Publication
Sequence conflicti70 – 712NN → VR in CAA57554. 1 Publication
Sequence conflicti373 – 3731E → K in CAA42841. 1 Publication
Sequence conflicti540 – 5401A → R in CAA42841. 1 Publication

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 152 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

Similar proteinsi