ANOS1
entrez
3730
canonical
uniprot
P23352
canonical
ensembl
ENSG00000011201
resolver
ensp
ENSP00000262648
resolver
ensp
ENSP00000781763
resolver
enst
ENST00000262648
resolver
genesymbol
ANOS1
resolver
genesymbol_syn
ADMLX
resolver
genesymbol_syn
KAL
resolver
genesymbol_syn
KAL1
resolver
genesymbol_syn
KALIG1
resolver
hgnc
HGNC:6211
resolver
uniprot
B2RPF8
resolver
uniprot_entry
KALM_HUMAN
resolver
uniprot_sec
B2RPF8
resolver
amino_acid_sequence
MVPGVPGAVLTLCLWLAASSGCLAAGPGAAAARRLDESLSAGSVQRARCASRCLSLQITRISAFFQHFQNNGSLVWCQNHKQCSKCLEPCKESGDLRKHQCQSFCEPLFPKKSYECLTSCEFLKYILLVKQGDCPAPEKASGFAAACVESCEVDNECSGVKKCCSNGCGHTCQVPKTLYKGVPLKPRKELRFTELQSGQLEVKWSSKFNISIEPVIYVVQRRWNYGIHPSEDDATHWQTVAQTTDERVQLTDIRPSRWYQFRVAAVNVHGTRGFTAPSKHFRSSKDPSAPPAPANLRLANSTVNSDGSVTVTIVWDLPEEPDIPVHHYKVFWSWMVSSKSLVPTKKKRRKTTDGFQNSVILEKLQPDCDYVVELQAITYWGQTRLKSAKVSLHFTSTHATNNKEQLVKTRKGGIQTQLPFQRRRPTRPLEVGAPFYQDGQLQVKVYWKKTEDPTVNRYHVRWFPEACAHNRTTGSEASSGMTHENYIILQDLSFSCKYKVTVQPIRPKSHSKAEAVFFTTPPCSALKGKSHKPVGCLGEAGHVLSKVLAKPENLSASFIVQDVNITGHFSWKMAKANLYQPMTGFQVTWAEVTTESRQNSLPNSIISQSQILPSDHYVLTVPNLRPSTLYRLEVQVLTPGGEGPATIKTFRTPELPPSSAHRSHLKHRHPHHYKPSPERY
uniprot
proteins
disease_involvement
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). {ECO:0000269|PubMed:11297579, ECO:0000269|PubMed:15001591, ECO:0000269|PubMed:15471890, ECO:0000269|PubMed:15605412, ECO:0000269|PubMed:17054399, ECO:0000269|PubMed:17213338, ECO:0000269|PubMed:17223984, ECO:0000269|PubMed:19696444, ECO:0000269|PubMed:20530987, ECO:0000269|PubMed:21168128, ECO:0000269|PubMed:23643382, ECO:0000269|PubMed:25077900, ECO:0000269|PubMed:8504298, ECO:0000269|PubMed:8989261, ECO:0000269|PubMed:9589672}. Note=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). {ECO:0000269|PubMed:23643382}.
uniprot
proteins
function
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. {ECO:0000250, ECO:0000269|PubMed:19696444}.
uniprot
proteins
mass_dalton
76112
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:8842728}.; PTM: May be proteolytically cleaved at the cell surface and released from the cell surface. {ECO:0000269|PubMed:8842728}.
uniprot
proteins
pubmed
11297579
uniprot
proteins
pubmed
12007408
uniprot
proteins
pubmed
1303284
uniprot
proteins
pubmed
15001591
uniprot
proteins
pubmed
15471890
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15605412
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
15949815
uniprot
proteins
pubmed
17054399
uniprot
proteins
pubmed
17213338
uniprot
proteins
pubmed
17223984
uniprot
proteins
pubmed
1913827
uniprot
proteins
pubmed
1922361
uniprot
proteins
pubmed
19696444
uniprot
proteins
pubmed
20530987
uniprot
proteins
pubmed
21168128
uniprot
proteins
pubmed
22927827
uniprot
proteins
pubmed
23643382
uniprot
proteins
pubmed
25077900
uniprot
proteins
pubmed
7590336
uniprot
proteins
pubmed
8504298
uniprot
proteins
pubmed
8832397
uniprot
proteins
pubmed
8842728
uniprot
proteins
pubmed
8989261
uniprot
proteins
pubmed
9589672
uniprot
proteins
sequence_length
680
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:8842728}; Peripheral membrane protein {ECO:0000269|PubMed:8842728}. Secreted {ECO:0000269|PubMed:8842728}. Note=Proteolytic cleavage may release it from the cell surface into the extracellular space.
uniprot
proteins