ENSG00000074621


Homo sapiens

Features
Gene ID: ENSG00000074621
  
Biological name :SLC24A1
  
Synonyms : O60721 / SLC24A1 / solute carrier family 24 member 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 15
Strand: 1
Band: q22.31
Gene start: 65611366
Gene end: 65660995
  
Corresponding Affymetrix probe sets: 206081_at (Human Genome U133 Plus 2.0 Array)   210420_at (Human Genome U133 Plus 2.0 Array)   210421_s_at (Human Genome U133 Plus 2.0 Array)   211842_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000445577
Ensembl peptide - ENSP00000439693
Ensembl peptide - ENSP00000445163
Ensembl peptide - ENSP00000261892
Ensembl peptide - ENSP00000341837
Ensembl peptide - ENSP00000381991
Ensembl peptide - ENSP00000439190
NCBI entrez gene - 9187     See in Manteia.
OMIM - 603617
RefSeq - XM_017022725
RefSeq - NM_001301033
RefSeq - NM_004727
RefSeq - XM_005254778
RefSeq - XM_006720768
RefSeq - XM_011522219
RefSeq - XM_011522220
RefSeq - XM_011522221
RefSeq - XM_011522222
RefSeq - XM_017022724
RefSeq - NM_001254740
RefSeq - NM_001301031
RefSeq - NM_001301032
RefSeq Peptide - NP_001287960
RefSeq Peptide - NP_001287961
RefSeq Peptide - NP_001287962
RefSeq Peptide - NP_004718
RefSeq Peptide - NP_001241669
swissprot - H0YH06
swissprot - O60721
swissprot - F5H127
swissprot - F5H483
Ensembl - ENSG00000074621
  
Related genetic diseases (OMIM): 613830 - Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 slc24a1ENSDARG00000041431Danio rerio
 SLC24A1ENSGALG00000007495Gallus gallus
 Slc24a1ENSMUSG00000034452Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9UI40 / SLC24A2 / solute carrier family 24 member 2ENSG0000015588634
Q9HC58 / SLC24A3 / solute carrier family 24 member 3ENSG0000018505221
Q8NFF2 / SLC24A4 / solute carrier family 24 member 4ENSG0000014009020
Q71RS6 / SLC24A5 / solute carrier family 24 member 5ENSG0000018846716
Q6J4K2 / SLC8B1 / solute carrier family 8 member B1ENSG0000008906012


Protein motifs (from Interpro)
Interpro ID Name
 IPR004481  Sodium/potassium/calcium exchanger
 IPR004817  Sodium/potassium/calcium exchanger 1
 IPR004837  Sodium/calcium exchanger membrane region
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport TAS
 biological_processGO:0006816 calcium ion transport NAS
 biological_processGO:0006874 cellular calcium ion homeostasis IBA
 biological_processGO:0007601 visual perception NAS
 biological_processGO:0009642 response to light intensity NAS
 biological_processGO:0035725 sodium ion transmembrane transport IEA
 biological_processGO:0050896 response to stimulus IEA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0060291 long-term synaptic potentiation IBA
 biological_processGO:0060292 long term synaptic depression IBA
 biological_processGO:0070588 calcium ion transmembrane transport IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0016020 membrane TAS
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0019867 outer membrane NAS
 molecular_functionGO:0005262 calcium channel activity IBA
 molecular_functionGO:0005509 calcium ion binding IBA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008273 calcium, potassium:sodium antiporter activity TAS
 molecular_functionGO:0015293 symporter activity IEA
 molecular_functionGO:0015297 antiporter activity IEA
 molecular_functionGO:0030955 potassium ion binding IBA
 molecular_functionGO:0031402 sodium ion binding IBA


Pathways (from Reactome)
Pathway description
Activation of the phototransduction cascade
Sodium/Calcium exchangers
Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000486 Strabismus "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators]
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 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
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 HP:0000662 Night blindness 
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 HP:0007642 Congenital stationary night blindness 
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 HP:0007663 Decreased central vision 
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 HP:0007766 Hypoplastic optic disks 
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 HP:0008002 Macular pigmentary changes 
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 HP:0011003 Severe Myopia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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