Version 5.4
Homo sapiens Gene: KAL1
Summary
InnateDB Gene IDBG-42250.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol KAL1
Gene Name Kallmann syndrome 1 sequence
Synonyms ADMLX; HH1; HHA; KAL; KALIG-1; KMS; WFDC19
Species Homo sapiens
Ensembl Gene ENSG00000011201
Encoded Proteins
IDBP-42252
Kallmann syndrome 1 sequence
IDBP-808303
Kallmann syndrome 1 sequence
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Mutations in this gene cause the X-linked Kallmann syndrome. The encoded protein is similar in sequence to proteins known to function in neural cell adhesion and axonal migration. In addition, this cell surface protein is N-glycosylated and may have anti-protease activity. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome X:8528874-8732187
Strand Reverse strand
Band p22.31
Transcripts
ENST00000262648 ENSP00000262648
ENST00000481896
ENST00000488294
ENST00000619786 ENSP00000478734
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
Cellular Component
GO:0005576 extracellular region
GO:0005578 proteinaceous extracellular matrix
GO:0005615 extracellular space
GO:0005886 plasma membrane
Orthologs
No orthologs found for this gene
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 3730
UniGene
RefSeq NM_000216
HUGO HGNC:6211
OMIM 300836
CCDS CCDS14130
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas 3730

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca