UniProt:P23352 ANOS1

chain
  • signal peptide:1-24
  • chain:25-680
checksum F491FE94FFD9250E
comment
  • 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.SUBUNIT 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.INTERACTION Proteolytic cleavage may release it from the cell surface into the extracellular space.TISSUE SPECIFICITY Expressed in the cerebellum (at protein level).PTM N-glycosylated.PTM May be proteolytically cleaved at the cell surface and released from the cell surface.DISEASE The disease is caused by variants 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).
crossReference
databaseName UniProt
dbId 57833
description
  • recommendedName: fullName evidence="30 32"Anosmin-1 alternativeName: Adhesion molecule-like X-linked alternativeName: fullName evidence="29"Kallmann syndrome protein
displayName UniProt:P23352 ANOS1
geneName
  • ANOS1
  • ADMLX
  • KAL
  • KAL1
  • KALIG1
identifier P23352
isSequenceChanged false
keyword
  • 3D-structure
  • Cell adhesion
  • Cell membrane
  • Chemotaxis
  • Disease variant
  • Disulfide bond
  • Glycoprotein
  • Heparin-binding
  • Hypogonadotropic hypogonadism
  • Kallmann syndrome
  • Membrane
  • Protease inhibitor
  • Proteomics identification
  • Reference proteome
  • Repeat
  • Secreted
  • Serine protease inhibitor
  • Signal
modified [InstanceEdit:9926675] Weiser, Joel, 2024-11-03
moleculeType Protein
name
  • ANOS1
otherIdentifier
  • 11726396_x_at
  • 11726397_at
  • 11758166_s_at
  • 17108959
  • 17125718
  • 17125722
  • 205206_PM_at
  • 205206_at
  • 33158_at
  • 3730
  • 3998769
  • 3998770
  • 3998771
  • 3998772
  • 3998773
  • 3998774
  • 3998775
  • 3998776
  • 3998778
  • 3998779
  • 3998780
  • 3998781
  • 3998783
  • 3998784
  • 3998787
  • 3998791
  • 3998792
  • 3998793
  • 3998794
  • 3998795
  • 3998796
  • 3998803
  • 3998804
  • 3998805
  • 3998808
  • 3998820
  • 3998824
  • 3998825
  • 3998826
  • 4030295
  • 4030303
  • 4030304
  • 4030313
  • 8171248
  • A_23_P429950
  • GE558096
  • GE58178
  • GO:0004867
  • GO:0005198
  • GO:0005201
  • GO:0005515
  • GO:0005576
  • GO:0005615
  • GO:0005886
  • GO:0006935
  • GO:0007155
  • GO:0007411
  • GO:0008201
  • GO:0009986
  • GO:0016020
  • GO:0030182
  • GO:0030312
  • GO:0030414
  • GO:0031012
  • GO:0098772
  • HMNXSV003048922
  • HMNXSV003051071
  • Hs.283905.0.S1_3p_s_at
  • ILMN_1750373
  • M97252_at
  • PH_hs_0018548
  • TC0X000829.hg
  • TC0Y000261.hg
  • X60299_s_at
  • g4557682_3p_at
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • KALM_HUMAN
  • B2RPF8
sequenceLength 680
species [Species:48887] Homo sapiens
stId uniprot:P23352
url http://purl.uniprot.org/uniprot/P23352
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