ENSG00000164414


Homo sapiens

Features
Gene ID: ENSG00000164414
  
Biological name :SLC35A1
  
Synonyms : P78382 / SLC35A1 / solute carrier family 35 member A1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: 1
Band: q15
Gene start: 87470623
Gene end: 87512336
  
Corresponding Affymetrix probe sets: 203306_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000358569
Ensembl peptide - ENSP00000479535
Ensembl peptide - ENSP00000358570
Ensembl peptide - ENSP00000358565
NCBI entrez gene - 10559     See in Manteia.
OMIM - 605634
RefSeq - NM_001168398
RefSeq - NM_006416
RefSeq Peptide - NP_006407
RefSeq Peptide - NP_001161870
swissprot - Q5W1L7
swissprot - P78382
swissprot - A0A087WVM1
Ensembl - ENSG00000164414
  
Related genetic diseases (OMIM): 603585 - Congenital disorder of glycosylation, type IIf, 603585
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
 slc35a1ENSDARG00000040180Danio rerio
 SLC35A1ENSGALG00000015808Gallus gallus
 Q61420ENSMUSG00000028293Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P78381 / SLC35A2 / solute carrier family 35 member A2ENSG0000010210044
Q9Y2D2 / SLC35A3 / solute carrier family 35 member A3ENSG0000011762037
Q9BS91 / SLC35A5 / solute carrier family 35 member A5ENSG0000013845924
L0R6Q1 / Q96G79 / SLC35A4 / solute carrier family 35 member A4ENSG0000017608722


Protein motifs (from Interpro)
Interpro ID Name
 IPR007271  Nucleotide-sugar transporter


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0005975 carbohydrate metabolic process TAS
 biological_processGO:0006464 cellular protein modification process TAS
 biological_processGO:0008643 carbohydrate transport IEA
 biological_processGO:0015782 CMP-N-acetylneuraminate transmembrane transport TAS
 biological_processGO:0090481 pyrimidine nucleotide-sugar transmembrane transport IEA
 cellular_componentGO:0000139 Golgi membrane IEA
 cellular_componentGO:0005794 Golgi apparatus TAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0005351 carbohydrate:proton symporter activity IEA
 molecular_functionGO:0005456 CMP-N-acetylneuraminate transmembrane transporter activity TAS
 molecular_functionGO:0015165 pyrimidine nucleotide-sugar transmembrane transporter activity IEA


Pathways (from Reactome)
Pathway description
Sialic acid metabolism
Defective SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F)
Defective SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F)
Transport of nucleotide sugars


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:0001873 Thrombocytopenia 
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 HP:0001875 Neutropenia 
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 HP:0001902 Giant platelets 
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 HP:0001933 Subcutaneous hemorrhage 
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 HP:0002090 Pneumonia 
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 HP:0002098 Respiratory distress 
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 HP:0002718 Recurrent bacterial infections 
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 HP:0003010 Prolonged bleeding time 
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 HP:0003593 Early onset 
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 HP:0011883 Abnormal platelet granules "An anomaly of alpha or dense granules or platelet lysososmes." [DDD:wouwehand]
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 HP:0012143 Abnormality of cells of the megakaryocyte lineage "Anomaly of `megakaryocytes` (CL:0000556)." [HPO:probinson]
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 HP:0012418 Hypoxemia "An abnormally low level of blood oxygen." [HPO:probinson]
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 HP:0031156 Decreased platelet glycoprotein Ib "Decreased platelet cell membrane concentration of glycoprotein Ib." [PMID:11157507]
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 HP:0040223 Intrapulmonary hemorrhage "A hemorrhage occurring within the lung." []
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 HP:0100658 Cellulitis 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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