InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: KAL1

Summary

InnateDB Protein

IDBP-42252.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

KAL1

Protein Name

Kallmann syndrome 1 sequence

Synonyms

ADMLX; HH1; HHA; KAL; KALIG-1; KMS; WFDC19;

Species

Homo sapiens

Ensembl Protein

ENSP00000262648

InnateDB Gene

IDBG-42250 (KAL1)

Protein Structure

UniProt Annotation

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:0000269PubMed:19696444}.

Subcellular Localization

Cell membrane {ECO:0000269PubMed:8842728}; Peripheral membrane protein {ECO:0000269PubMed:8842728}. Secreted {ECO:0000269PubMed:8842728}. Note=Proteolytic cleavage may release it from the cell surface into the extracellular space.

Disease Associations

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:0000269PubMed:11297579, ECO:0000269PubMed:15001591, ECO:0000269PubMed:15605412, ECO:0000269PubMed:17054399, ECO:0000269PubMed:17213338, ECO:0000269PubMed:17223984, ECO:0000269PubMed:20530987, ECO:0000269PubMed:21168128, ECO:0000269PubMed:23643382, ECO:0000269PubMed:8504298, ECO:0000269PubMed:8989261, ECO:0000269PubMed:9589672}. 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 (PubMed:23643382). {ECO:0000269PubMed:23643382}.

Tissue Specificity

Expressed in the cerebellum (at protein level). {ECO:0000269PubMed:12007408}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004867	serine-type endopeptidase inhibitor activity
GO:0005201	extracellular matrix structural constituent
GO:0005515	protein binding
GO:0008201	heparin binding
GO:0030414	peptidase inhibitor activity

Biological Process

GO:0006928	cellular component movement
GO:0006935	chemotaxis
GO:0007155	cell adhesion
GO:0007411	axon guidance
GO:0010951	negative regulation of endopeptidase activity