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Protein

Anosmin-1

Gene

ANOS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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.By similarity1 Publication

GO - Molecular functioni

GO - Biological processi

  • axon guidance Source: ProtInc
  • cell adhesion Source: ProtInc
  • chemotaxis Source: ProtInc
  • fibroblast growth factor receptor signaling pathway Source: Reactome
  • movement of cell or subcellular component Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Protease inhibitor, Serine protease inhibitor

Keywords - Biological processi

Cell adhesion, Chemotaxis

Keywords - Ligandi

Heparin-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000011201-MONOMER.
ReactomeiR-HSA-190373. FGFR1c ligand binding and activation.
R-HSA-5654726. Negative regulation of FGFR1 signaling.

Protein family/group databases

MEROPSiI17.004.

Names & Taxonomyi

Protein namesi
Recommended name:
Anosmin-11 PublicationImported
Alternative name(s):
Adhesion molecule-like X-linked
Kallmann syndrome protein1 Publication
Gene namesi
Name:ANOS1Imported
Synonyms:ADMLX, KAL, KAL1, KALIG1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:6211. ANOS1.

Subcellular locationi

GO - Cellular componenti

  • extracellular region Source: Reactome
  • extracellular space Source: ProtInc
  • plasma membrane Source: UniProtKB-SubCell
  • 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)13 Publications
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 ANOS1 as well as in other HH-associated genes including FGFR1 and TACR3 (PubMed:23643382).1 Publication
Disease descriptionA 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).
See also OMIM:308700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065362134C → G in HH1; phenotype consistent with Kallmann syndrome. 1 Publication1
Natural variantiVAR_065363163C → R in HH1; phenotype consistent with Kallmann syndrome. 1 Publication1
Natural variantiVAR_031012163C → Y in HH1; phenotype consistent with Kallmann syndrome. 1 Publication1
Natural variantiVAR_031011163Missing in HH1; phenotype consistent with Kallmann syndrome. 1 Publication1
Natural variantiVAR_031013172C → R in HH1; phenotype consistent with Kallmann syndrome. 1 Publication1
Natural variantiVAR_031014262R → P in HH1; phenotype consistent with Kallmann syndrome. 1 Publication1
Natural variantiVAR_007720267N → K in HH1; phenotype consistent with Kallmann syndrome; loss of effect on the migratory activity of GnRH neurons; complete loss of FGFR1-binding. 3 Publications1
Natural variantiVAR_031015304N → S in HH1; phenotype consistent with Kallmann syndrome. 1 PublicationCorresponds to variant rs140812865dbSNPEnsembl.1
Natural variantiVAR_031016396S → L in HH1; phenotype consistent with Kallmann syndrome. 2 PublicationsCorresponds to variant rs137852517dbSNPEnsembl.1
Natural variantiVAR_012742514E → K in HH1; phenotype consistent with Kallmann syndrome; loss of effect on the migratory activity of GnRH neurons; reduced FGFR1-binding. 4 PublicationsCorresponds to variant rs28937309dbSNPEnsembl.1
Natural variantiVAR_031017517F → L in HH1; phenotype consistent with Kallmann syndrome; loss of effect on the migratory activity of GnRH neurons; Reduced FGFR1-binding. 3 Publications1
Natural variantiVAR_065364539E → K in HH1. 1 PublicationCorresponds to variant rs144586521dbSNPEnsembl.1
Natural variantiVAR_031018571W → R in HH1; phenotype consistent with Kallmann syndrome. 1 Publication1
Natural variantiVAR_069968587V → L in HH1; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism; the patient also carries a mutation in FGFR1. 1 PublicationCorresponds to variant rs137900287dbSNPEnsembl.1
Natural variantiVAR_072992672H → R in HH1; phenotype consistent with Kallmann syndrome. 1 PublicationCorresponds to variant rs199771303dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Hypogonadotropic hypogonadism, Kallmann syndrome

Organism-specific databases

DisGeNETi3730.
MIMi308700. phenotype.
OpenTargetsiENSG00000011201.
Orphaneti478. Kallmann syndrome.
432. Normosmic congenital hypogonadotropic hypogonadism.
PharmGKBiPA30012.

Polymorphism and mutation databases

BioMutaiKAL1.
DMDMi134048661.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 24Sequence analysisAdd BLAST24
ChainiPRO_000004139525 – 680Anosmin-1Add BLAST656

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi49 ↔ 83PROSITE-ProRule annotation1 Publication
Disulfide bondi53 ↔ 77PROSITE-ProRule annotation1 Publication
Glycosylationi71N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi86 ↔ 105PROSITE-ProRule annotation1 Publication
Disulfide bondi90 ↔ 101PROSITE-ProRule annotation1 Publication
Disulfide bondi116 ↔ 120PROSITE-ProRule annotation1 Publication
Glycosylationi209N-linked (GlcNAc...)Sequence analysis1
Glycosylationi300N-linked (GlcNAc...)Sequence analysis1
Glycosylationi470N-linked (GlcNAc...)Sequence analysis1
Glycosylationi553N-linked (GlcNAc...)Sequence analysis1
Glycosylationi564N-linked (GlcNAc...)Sequence analysis1

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

EPDiP23352.
PaxDbiP23352.
PeptideAtlasiP23352.
PRIDEiP23352.
TopDownProteomicsiP23352.

PTM databases

iPTMnetiP23352.
PhosphoSitePlusiP23352.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000011201.
CleanExiHS_KAL1.
GenevisibleiP23352. HS.

Organism-specific databases

HPAiCAB009493.

Interactioni

Subunit structurei

Interacts with FGFR1; this interaction does not interfere with FGF2-binding to FGFR1. Binds heparin. Heparin may promote or interfere with ANOS1-FGFR1-FGF2 complex formation depending on the sequential order of its binding to the various constituents. For instance, heparin-ANOS1 interaction favors subsequent binding to pre-existing binary FGFR1-FGF2 complex, while heparin-FGF2 complex does not interact with ANOS1-FGFR1.1 Publication

Binary interactionsi

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

Protein-protein interaction databases

BioGridi109933. 2 interactors.
IntActiP23352. 3 interactors.
STRINGi9606.ENSP00000262648.

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1ZLGX-ray-A24-680[»]
ProteinModelPortaliP23352.
SMRiP23352.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP23352.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini127 – 176WAPPROSITE-ProRule annotationAdd BLAST50
Domaini186 – 287Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST102
Domaini292 – 400Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST109
Domaini425 – 523Fibronectin type-III 3PROSITE-ProRule annotationAdd BLAST99
Domaini550 – 658Fibronectin type-III 4PROSITE-ProRule annotationAdd BLAST109

Sequence similaritiesi

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

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiKOG4802. Eukaryota.
ENOG4111T0F. LUCA.
GeneTreeiENSGT00440000033720.
HOGENOMiHOG000113190.
HOVERGENiHBG006198.
InParanoidiP23352.
OMAiTYWGQVR.
OrthoDBiEOG091G03VB.
PhylomeDBiP23352.
TreeFamiTF318736.

Family and domain databases

CDDicd00063. FN3. 3 hits.
Gene3Di2.60.40.10. 3 hits.
4.10.75.10. 1 hit.
InterProiIPR003961. FN3_dom.
IPR013783. Ig-like_fold.
IPR008197. WAP_dom.
[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

        10         20         30         40         50
MVPGVPGAVL TLCLWLAASS GCLAAGPGAA AARRLDESLS AGSVQRARCA
60 70 80 90 100
SRCLSLQITR ISAFFQHFQN NGSLVWCQNH KQCSKCLEPC KESGDLRKHQ
110 120 130 140 150
CQSFCEPLFP KKSYECLTSC EFLKYILLVK QGDCPAPEKA SGFAAACVES
160 170 180 190 200
CEVDNECSGV KKCCSNGCGH TCQVPKTLYK GVPLKPRKEL RFTELQSGQL
210 220 230 240 250
EVKWSSKFNI SIEPVIYVVQ RRWNYGIHPS EDDATHWQTV AQTTDERVQL
260 270 280 290 300
TDIRPSRWYQ FRVAAVNVHG TRGFTAPSKH FRSSKDPSAP PAPANLRLAN
310 320 330 340 350
STVNSDGSVT VTIVWDLPEE PDIPVHHYKV FWSWMVSSKS LVPTKKKRRK
360 370 380 390 400
TTDGFQNSVI LEKLQPDCDY VVELQAITYW GQTRLKSAKV SLHFTSTHAT
410 420 430 440 450
NNKEQLVKTR KGGIQTQLPF QRRRPTRPLE VGAPFYQDGQ LQVKVYWKKT
460 470 480 490 500
EDPTVNRYHV RWFPEACAHN RTTGSEASSG MTHENYIILQ DLSFSCKYKV
510 520 530 540 550
TVQPIRPKSH SKAEAVFFTT PPCSALKGKS HKPVGCLGEA GHVLSKVLAK
560 570 580 590 600
PENLSASFIV QDVNITGHFS WKMAKANLYQ PMTGFQVTWA EVTTESRQNS
610 620 630 640 650
LPNSIISQSQ ILPSDHYVLT VPNLRPSTLY RLEVQVLTPG GEGPATIKTF
660 670 680
RTPELPPSSA HRSHLKHRHP HHYKPSPERY
Length:680
Mass (Da):76,112
Last modified:March 6, 2007 - v3
Checksum:iF491FE94FFD9250E
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti48R → P in AAA59202 (PubMed:1913827).Curated1
Sequence conflicti48R → P in CAA42841 (PubMed:1922361).Curated1
Sequence conflicti48R → P in CAA57554 (PubMed:7590336).Curated1
Sequence conflicti70 – 71NN → VR in CAA57554 (PubMed:7590336).Curated2
Sequence conflicti373E → K in CAA42841 (PubMed:1922361).Curated1
Sequence conflicti540A → R in CAA42841 (PubMed:1922361).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065362134C → G in HH1; phenotype consistent with Kallmann syndrome. 1 Publication1
Natural variantiVAR_065363163C → R in HH1; phenotype consistent with Kallmann syndrome. 1 Publication1
Natural variantiVAR_031012163C → Y in HH1; phenotype consistent with Kallmann syndrome. 1 Publication1
Natural variantiVAR_031011163Missing in HH1; phenotype consistent with Kallmann syndrome. 1 Publication1
Natural variantiVAR_031013172C → R in HH1; phenotype consistent with Kallmann syndrome. 1 Publication1
Natural variantiVAR_069207217Y → D Probable disease-associated mutation found in a patient with Kallmann syndrome; the patient also carries mutation Ala-688 in SEMA3A. 1 Publication1
Natural variantiVAR_031014262R → P in HH1; phenotype consistent with Kallmann syndrome. 1 Publication1
Natural variantiVAR_007720267N → K in HH1; phenotype consistent with Kallmann syndrome; loss of effect on the migratory activity of GnRH neurons; complete loss of FGFR1-binding. 3 Publications1
Natural variantiVAR_031015304N → S in HH1; phenotype consistent with Kallmann syndrome. 1 PublicationCorresponds to variant rs140812865dbSNPEnsembl.1
Natural variantiVAR_031016396S → L in HH1; phenotype consistent with Kallmann syndrome. 2 PublicationsCorresponds to variant rs137852517dbSNPEnsembl.1
Natural variantiVAR_012742514E → K in HH1; phenotype consistent with Kallmann syndrome; loss of effect on the migratory activity of GnRH neurons; reduced FGFR1-binding. 4 PublicationsCorresponds to variant rs28937309dbSNPEnsembl.1
Natural variantiVAR_031017517F → L in HH1; phenotype consistent with Kallmann syndrome; loss of effect on the migratory activity of GnRH neurons; Reduced FGFR1-binding. 3 Publications1
Natural variantiVAR_007721534V → I.10 PublicationsCorresponds to variant rs808119dbSNPEnsembl.1
Natural variantiVAR_065364539E → K in HH1. 1 PublicationCorresponds to variant rs144586521dbSNPEnsembl.1
Natural variantiVAR_031018571W → R in HH1; phenotype consistent with Kallmann syndrome. 1 Publication1
Natural variantiVAR_069968587V → L in HH1; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism; the patient also carries a mutation in FGFR1. 1 PublicationCorresponds to variant rs137900287dbSNPEnsembl.1
Natural variantiVAR_031019666K → M.1 Publication1
Natural variantiVAR_031020668R → H.2 PublicationsCorresponds to variant rs775708192dbSNPEnsembl.1
Natural variantiVAR_072992672H → R in HH1; phenotype consistent with Kallmann syndrome. 1 PublicationCorresponds to variant rs199771303dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_000216.3.
UniGeneiHs.521869.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_000216.3.
UniGeneiHs.521869.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1ZLGX-ray-A24-680[»]
ProteinModelPortaliP23352.
SMRiP23352.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109933. 2 interactors.
IntActiP23352. 3 interactors.
STRINGi9606.ENSP00000262648.

Protein family/group databases

MEROPSiI17.004.

PTM databases

iPTMnetiP23352.
PhosphoSitePlusiP23352.

Polymorphism and mutation databases

BioMutaiKAL1.
DMDMi134048661.

Proteomic databases

EPDiP23352.
PaxDbiP23352.
PeptideAtlasiP23352.
PRIDEiP23352.
TopDownProteomicsiP23352.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi3730.
DisGeNETi3730.
GeneCardsiANOS1.
GeneReviewsiKAL1.
H-InvDBHIX0056280.
HGNCiHGNC:6211. ANOS1.
HPAiCAB009493.
MIMi300836. gene.
308700. phenotype.
neXtProtiNX_P23352.
OpenTargetsiENSG00000011201.
Orphaneti478. Kallmann syndrome.
432. Normosmic congenital hypogonadotropic hypogonadism.
PharmGKBiPA30012.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4802. Eukaryota.
ENOG4111T0F. LUCA.
GeneTreeiENSGT00440000033720.
HOGENOMiHOG000113190.
HOVERGENiHBG006198.
InParanoidiP23352.
OMAiTYWGQVR.
OrthoDBiEOG091G03VB.
PhylomeDBiP23352.
TreeFamiTF318736.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000011201-MONOMER.
ReactomeiR-HSA-190373. FGFR1c ligand binding and activation.
R-HSA-5654726. Negative regulation of FGFR1 signaling.

Miscellaneous databases

EvolutionaryTraceiP23352.
GenomeRNAii3730.
PROiP23352.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000011201.
CleanExiHS_KAL1.
GenevisibleiP23352. HS.

Family and domain databases

CDDicd00063. FN3. 3 hits.
Gene3Di2.60.40.10. 3 hits.
4.10.75.10. 1 hit.
InterProiIPR003961. FN3_dom.
IPR013783. Ig-like_fold.
IPR008197. WAP_dom.
[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]
ProtoNetiSearch...

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: November 30, 2016
This is version 173 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.