SLC45A1 (solute carrier family 45 member 1)

Gene

• Entrez ID: 50651
• Gene name: Solute carrier family 45 member 1
• Gene symbol: SLC45A1
• Synonyms (NCBI Gene): DNB5, IDDNPF, PAST-A
• Chromosome: 1
• Chromosome location: 1p36.23
• Summary: This gene was isolated initially from a region on chromosome 1p that is frequently deleted in human neuroblastoma, although no causal relationship has since been demonstrated. The encoded protein belongs to the glycoside-pentoside-hexuronide cation sympor

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs150539474	C>T	Pathogenic	Missense variant, coding sequence variant
rs781036625	C>T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017767	hsa-miR-335-5p	Microarray	18185580

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005356	Function	D-glucose:proton symporter activity	IEA
GO:0005356	Function	D-glucose:proton symporter activity	IMP	28434495
GO:0005356	Function	D-glucose:proton symporter activity	ISS
GO:0008506	Function	Sucrose:proton symporter activity	IBA
GO:0015293	Function	Symporter activity	IEA
GO:0015517	Function	Galactose:proton symporter activity	ISS
GO:0015757	Process	Galactose transmembrane transport	ISS
GO:0015770	Process	Sucrose transport	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:1904659	Process	D-glucose transmembrane transport	IEA
GO:1904659	Process	D-glucose transmembrane transport	IMP	28434495

Other IDs

• MIM: 605763
• HGNC: 17939
• e!Ensembl: ENSG00000162426

Protein

• UniProt ID: Q9Y2W3
• Protein name: Proton-associated sugar transporter A (PAST-A) (Deleted in neuroblastoma 5 protein) (DNb-5) (Solute carrier family 45 member 1)
• Protein function: Proton-associated glucose transporter in the brain.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07690	MFS_1	105 → 403	Major Facilitator Superfamily	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in adult heart, brain, muscle and kidney, with very strong expression in brain. Also expressed in fetal brain, kidney and lung. {ECO:0000269|PubMed:10729226}.
• Sequence:

  MLQQPGPRPGRQQPSGDRDACRLHPQGRPPALPTMIPAASSTPPGDALFPSVAPQDFWRS
  QVTGYSGSVTRHLSHRANNFKRHPKRRKCIRPSPPPPPNTPCPLELVDFGDLHPQRSFRE
  LLFNGCILFGIEFSYAMETAYVTPVLLQMGLPDQLYSLVWFISPILGFLLQPLLGAWSDR
  CTSRFGRRRPFILVLAIGALLGLSLLLNGRDIGIALADVTGNHKWGLLLTVCGVVLMDFS
  ADSADNPSHAYMMDVCSPADQDRGLNIHALLAGLGGGFGYVVGGIHWDKTGFGRALGGQL
  RVIYLFTAVTLSVTTVLTLVSIPERPLRPPSEKRAAMKSPSLPLPPSPPVLPEEGPGDSL
  PSHTATNFSSPISPPSPLTPKYGSFISRDSSLTGISEFASSFGTANIDSVLIDCFTGGHD
  SYLAIPGSVPRPPISVSFPRAPDGFYRQDRGLLEGREGALTSGCDGDILRVGSLDTSKPR
  SSGILKRPQTLAIPDAAGGGGPETSRRRNVTFSQQVANILLNGVKYESELTGSSERAEQP
  LSVGRLCSTICNMPKALRTLCVNHFLGWLSFEGMLLFYTDFMGEVVFQGDPKAPHTSEAY
  QKYNSGVTMGCWGMCIYAFSAAFYSAILEKLEEFLSVRTLYFIAYLAFGLGTGLATLSRN
  LYVVLSLCITYGILFSTLCTLPYSLLCDYYQSKKFAGSSADGTRRGMGVDISLLSCQYFL
  AQILVSLVLGPLTSAVGSANGVMYFSSLVSFLGCLYSSLFVIYEIPPSDAADEEHRPLLL
  NV

• Sequence length: 782

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Intellectual developmental disorder with neuropsychiatric features	Likely pathogenic	rs150539474	RCV000492063

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
SLC45A1-related disorder	Uncertain significance; Benign; Likely benign	rs374431547, rs56125713, rs7535752, rs371725234, rs753490288, rs774116352, rs773256626, rs752538342, rs376429651, rs191155736, rs750070749, rs559861530, rs143356185, rs112041749, rs138622022, rs61740586, rs61746716, rs144175783	RCV003908525 RCV003976204 RCV003976205 RCV003402623 RCV003410837 RCV003912204 RCV003912246 RCV003916841 RCV003931610 RCV003939444 RCV003939698 RCV003922008 RCV003942138 RCV003976761 RCV003957316 RCV003978145 RCV003958196 RCV003960387

Associations from Text Mining
Disease Name	Relationship Type	References
Melanoma	Associate	34334114