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Aliases & Descriptions for KAL1
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| ADMLX 2, 3, 5 | | HHA 2 | | KAL 2, 3 | | KALIG-1 1, 2 | | KALIG1 3 | | KMS 2, 5 | | OTTHUMP00000022873 2 | | anosmin-1 2 |
| | | Descriptions |
|---|
| Adhesion molecule-like X-linked 2, 3 | | Kallmann syndrome 1 protein 2 | | Kallmann syndrome 1 sequence 2 | | Kallmann syndrome interval gene 1 2 | | Kallmann syndrome protein 3 | | Kallmann syndrome-1 sequence (anosmin-1) 2 |
|
| | Search outside databases for aliases for KAL1 genePrevious GC identifers: GC0XM007368 GC0XM007232 GC0XM007843 GC0XM007908 GC0XM008306 |
Summaries for KAL1(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for KAL1: 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] UniProtKB/Swiss-Prot: KALM_HUMAN, P23352Function: May be an adhesion-like molecule with anti-protease activity |
Genomic Location for KAL1
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: Xp22.32 Ensembl cytogenetic band: Xp22.31 HGNC cytogenetic band: Xp22.32KAL1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome X GeneLoc Exon Structure GeneLoc location for GC0XM008456:
(about GC identifiers)
Start:
|
8,456,915 bp from pter |
End:
|
8,660,227 bp from pter |
Size:
|
203,313 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000023.9 NT_011757.15
| Proteins for KAL1
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: KALM_HUMAN, P23352 (See
protein sequence)Recommended Name: Anosmin-1 precursor Size: 680 amino acids; 76112 Da
Subcellular location: Cell surface
PDB structures from and Proteopedia :1ZLG (3D)
 Post-translational modifications:
N-glycosylated1
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_000207.2
ENSEMBL proteins: ENSP00000262648
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
4 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for KAL1: Assays for KAL1: | Protein
Domains/ Families for KAL1(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P23352
ProtoNet protein and cluster: P23352 1 Blocks protein family: IPB008197 4-disulphide core signature
UniProtKB/Swiss-Prot: KALM_HUMAN, P23352Similarity: Contains 4 fibronectin type-III domainsSimilarity: Contains 1 WAP domain | Gene Function for KAL1
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000216
Applied Biosystems Silencer® siRNAs for KAL1
Sigma-Aldrich siRNA for KAL1  Sigma-Aldrich shRNA Panels and shRNA for KAL1  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000216                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000216                                  untagged cDNA clone in CMV expression vector: NM_000216 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000216
UniProtKB/Swiss-Prot: KALM_HUMAN, P23352Function: May be an adhesion-like molecule with anti-protease activity3 Gene Ontology (GO) molecular function terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004867 | serine-type endopeptidase inhibitor activity |
IEA | -- | | GO:0005201 | extracellular matrix structural constituent |
TAS | 8842728 | | GO:0005515 | protein binding |
IEA | -- | About this table | Pathways & Interactions for KAL1
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
Gene Network CentralTM Interacting Genes and Proteins Network for KAL1 
5/23 Interacting proteins for KAL1 (ENSP000002626483) via UniProtKB, MINT, and/or STRING (see all 23
)About this table
3 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for KAL1(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for KAL1 3 Novoseek chemical compound relationships for KAL1 gene
About this table
|
Transcripts for KAL1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000216
Sigma-Aldrich siRNA for KAL1  Sigma-Aldrich shRNA Panels and shRNA for KAL1  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000216 REFSEQ mRNAs for KAL1 gene: NM_000216.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000216               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000216                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000216                                  untagged cDNA clone in CMV expression vector: NM_000216  Additional cDNA sequence: BC137426.1 BC137427.1 M97252.1 S60085.1 S60088.1 X60299.1 4 DOTS entries: DT.444478 DT.413647 DT.100747896 DT.91640146 24/73 AceView cDNA sequences (see all 73
):AU117607 AI703187 BQ029898 CB306497 N89949 AA419498 BM473419 CB321733 CD642906 AL044781 S60088 AL120218 AI659512 BQ181212 CA435944 AH003768 M97252 AL704788 BI755921 AU123877 BM802132 NM_000216 BM981870 S60085
highest scoring ESTs for KAL1:M97252 AI582702 S60085 X60299 AA057103 AA635598 AA970936 AI186695 AI432167 AI470092 Unigene Cluster for KAL1: Kallmann syndrome 1 sequence Hs.521869 [show with all ESTs]Unigene Representative Sequence: NM_000216
GeneLoc Exon Structure
1 Ensembl transcript including schematic representation: ENST00000262648
|
Expression for KAL1
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| KAL1 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for KAL1
1 / 2 / 3 3 probe-sets matching KAL1 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: TTAGAGTTTG
SOURCE GeneReport for Unigene cluster: Hs.521869
Expression variation in blood from EXPOLDB for KAL1 |
Orthologs for KAL1
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for KAL1 gene from 5/6 species (see all 6
)
About this table Species with no ortholog for KAL1
ENSEMBL Gene Tree for KAL1 | Paralogs for KAL1(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| -- |
SNPs/Variants for KAL1(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for KAL1 (up to first 250kb)
|
Disorders & Mutations for KAL1
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 308700 UniProtKB/Swiss-Prot: KALM_HUMAN, P23352
Defects in KAL1 are the cause of Kallmann syndrome type 1 (KAL1) [MIM:308700]; also known as hypogonadotropic hypogonadism and anosmia. 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 some patients other developmental anomalies can be present, which include renal agenesis, cleft lip and/or palate, selective tooth agenesis, and bimanual synkinesis. In some cases anosmia may be absent or inconspicuous10/14 Novoseek disease relationships for KAL1 gene (see all 14
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| kallmann syndrome |
98.84 |
57 |
11124862 (5), 10585565 (3), 10670750 (3), 11456260 (3) (see all 43) |
| hypogonadism |
85.84 |
3 |
7677154 (1), 9719154 (1), 17223984 (1) |
| renal agenesis |
74.31 |
8 |
17603054 (4), 10210557 (1), 10076881 (1), 15571757 (1) |
| klinefelters syndrome |
69.77 |
1 |
16882753 (1) |
| single gene defects |
67.50 |
1 |
18385259 (1) |
| aplasia |
65.10 |
4 |
8504298 (1), 1518845 (1), 8460158 (1), 11456260 (1) |
| ichthyosis |
56.18 |
1 |
17603054 (1) |
| addisons disease |
50.99 |
2 |
10727999 (1), 10527669 (1) |
| hormone deficiency |
42.75 |
1 |
15004876 (1) |
| hypoplasia |
41.12 |
1 |
10670750 (1) |
About this table
Genatlas disease: KAL1 Kallmann syndrome 1,characterized by hypogonadotropic hypogonadism and anosmia,maybe associated with renal agenesis of olfactory lobes and ataxia,synkinesia,nystagmus,visual defects,clubfoot,cleft palate,including rare cases of sporadic isolated GNRH deficiency GeneTests: KAL1 Kallmann Syndrome Human Gene Mutation Database: KAL1 Genetic Association Database: KAL1 Human Genome Epidemiology Navigator: KAL1 (4 documents)
|
Medical News for KAL1(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for KAL1 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/111 PubMed articles for KAL1 gene (see all 111
):- Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients. (PubMed id 15001591)3, 4, 6 Sato N.... Ogata T. (2004)
- The importance of autosomal genes in Kallmann syndrome: genotype- phenotype correlations and neuroendocrine characteristics. (PubMed id 11297579)1, 3, 4 Oliveira L.M.B.... Vallejo M. (2001)
- Clinical assessment and molecular analysis of GnRHR and KAL1 genes in males with idiopathic hypogonadotrophic hypogonadism. (PubMed id 17223984)1, 3, 4 Versiani B.R.... de Castro M. (2007)
- A recurrent missense mutation in the KAL gene in patients with X- linked Kallmann's syndrome. (PubMed id 9589672)1, 3, 4 Maya-Nunez G....Mendez J.P. (1998)
- Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome. (PubMed id 8504298)1, 3, 4 Hardelin J.-P.... Petit C. (1993)
- Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2). (PubMed id 15605412)1, 3, 4 Albuisson J.... Dode C. (2005)
- The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons. (PubMed id 15471890)1, 3, 4 Cariboni A.... Maggi R. (2004)
- Initial characterization of anosmin-1, a putative extracellular matrix protein synthesized by definite neuronal cell populations in the central nervous system. (PubMed id 8832397)1, 3, 4 Soussi-Yanicostas N.... Petit C. (1996)
- The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. (PubMed id 1913827)1, 3, 4 Legouis R....Petit C. (1991)
- Molecular modelling and experimental studies of mutation and cell-adhesion sites in the fibronectin type III and whey acidic protein domains of human anosmin-1. (PubMed id 11463336)1, 2, 3 Robertson A....Bouloux P.M. (2001)
|
Search for KAL1
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing KAL1
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing KAL1
(According to HUGE)
About This Section
| -- |
Specialized Databases showing KAL1(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=KAL1 |
|
| | | About This Section
| --
| Services for KAL1(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for KAL1:

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