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KAL1 Kallmann syndrome 1 sequence [ Homo sapiens (human) ]

Gene ID: 3730, updated on 8-Feb-2015
Official Symbol
KAL1provided by HGNC
Official Full Name
Kallmann syndrome 1 sequenceprovided by HGNC
Primary source
HGNC:HGNC:6211
See related
Ensembl:ENSG00000011201; HPRD:02393; MIM:300836; Vega:OTTHUMG00000021107
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HH1; HHA; KAL; KMS; ADMLX; WFDC19; KALIG-1
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]
Orthologs
See KAL1 in MapViewer
Location:
Xp22.32
Exon count:
15
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (8528874..8732186, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (8496915..8700227, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928275 Neighboring gene variable charge, X-linked 3B Neighboring gene dorsal inhibitory axon guidance protein pseudogene 1 Neighboring gene family with sequence similarity 9, member A

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Kallmann syndrome 1 Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-06-28)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-06-28)

ClinGen Genome Curation Page
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
extracellular matrix structural constituent TAS
Traceable Author Statement
more info
PubMed 
heparin binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
axon guidance TAS
Traceable Author Statement
more info
PubMed 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
chemotaxis TAS
Traceable Author Statement
more info
PubMed 
movement of cell or subcellular component TAS
Traceable Author Statement
more info
PubMed 
negative regulation of endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular space TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
proteinaceous extracellular matrix TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
anosmin-1
Names
anosmin-1
Kallmann syndrome interval gene 1
Kallmann syndrome-1 sequence (anosmin-1)
WAP four-disulfide core domain 19
adhesion molecule-like X-linked
kallmann syndrome protein

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007088.1 RefSeqGene

    Range
    5001..208313
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000216.2NP_000207.2  anosmin-1 precursor

    See proteins identical to NP_000207.2

    Status: REVIEWED

    Source sequence(s)
    AC006062, AH003768, AI582702, CN417843, M97252
    Consensus CDS
    CCDS14130.1
    UniProtKB/Swiss-Prot
    P23352
    Related
    ENSP00000262648, OTTHUMP00000022873, ENST00000262648, OTTHUMT00000055692
    Conserved Domains (2) summary
    cd00063
    Location:290381
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    cd00199
    Location:111176
    WAP; whey acidic protein-type four-disulfide core domains. Members of the family include whey acidic protein, elafin (elastase-specific inhibitor), caltrin-like protein (a calcium transport inhibitor) and other extracellular proteinase inhibitors. A group of ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38 Primary Assembly

    Range
    8528874..8732186
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005274501.2XP_005274558.1  

    Conserved Domains (2) summary
    cd00063
    Location:290381
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    cd00199
    Location:111176
    WAP; whey acidic protein-type four-disulfide core domains. Members of the family include whey acidic protein, elafin (elastase-specific inhibitor), caltrin-like protein (a calcium transport inhibitor) and other extracellular proteinase inhibitors. A group of ...

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 Alternate CHM1_1.1

    Range
    8527798..8731483
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000155.1 Alternate HuRef

    Range
    6324418..6527699
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)