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Aliases for SLC44A1 Gene

Aliases for SLC44A1 Gene

  • Solute Carrier Family 44 Member 1 2 3 4 5
  • Solute Carrier Family 44 (Choline Transporter), Member 1 2 3
  • CDW92 Antigen 2 3
  • CDW92 3 4
  • CD92 3 4
  • CTL1 3 4
  • Choline Transporter-Like Protein 1 3
  • CD92 Antigen 4
  • CHTL1 3

External Ids for SLC44A1 Gene

Previous HGNC Symbols for SLC44A1 Gene

  • CDW92

Previous GeneCards Identifiers for SLC44A1 Gene

  • GC09P105087
  • GC09P107046
  • GC09P108006
  • GC09P077662

Summaries for SLC44A1 Gene

GeneCards Summary for SLC44A1 Gene

SLC44A1 (Solute Carrier Family 44 Member 1) is a Protein Coding gene. Diseases associated with SLC44A1 include Postural Orthostatic Tachycardia Syndrome and Choline Deficiency Disease. Among its related pathways are Metabolism and Glycerophospholipid biosynthesis. GO annotations related to this gene include choline transmembrane transporter activity. An important paralog of this gene is SLC44A3.

UniProtKB/Swiss-Prot for SLC44A1 Gene

  • Choline transporter. May be involved in membrane synthesis and myelin production.

Gene Wiki entry for SLC44A1 Gene

Additional gene information for SLC44A1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC44A1 Gene

Genomics for SLC44A1 Gene

Regulatory Elements for SLC44A1 Gene

Enhancers for SLC44A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H105289 1.8 FANTOM5 Ensembl ENCODE dbSUPER 18.6 +47.1 47088 3 FOXA2 ATF1 ARID4B DMAP1 YY1 SP5 MIER2 PPARG KAT8 SREBF1 SLC44A1 ABCA1 TMEM38B FSD1L
GH09H105293 1.8 FANTOM5 Ensembl ENCODE dbSUPER 18.1 +52.8 52818 7 TBP ATF1 BRCA1 TCF12 ZNF766 GATA2 EGR1 SCRT2 ETV6 FOS SLC44A1 ABCA1 TMEM38B FSD1L
GH09H105290 0.8 ENCODE dbSUPER 12.4 +44.9 44887 0 ZNF217 GATA3 JUND FOXA1 SLC44A1 FSD1L
GH09H105242 1.4 ENCODE dbSUPER 6.5 +0.1 126 4 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZC3H11A FKTN RALGAPA1P1 SLC44A1 FSD1L
GH09H105280 1.1 FANTOM5 ENCODE dbSUPER 6.3 +36.7 36728 2 ZNF316 FOXA2 FOSL2 HOMEZ ABCA1 SLC44A1 TMEM38B FSD1L
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC44A1 on UCSC Golden Path with GeneCards custom track

Promoters for SLC44A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000239083 492 2201 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZC3H11A

Genomic Location for SLC44A1 Gene

Chromosome:
9
Start:
105,244,608 bp from pter
End:
105,439,171 bp from pter
Size:
194,564 bases
Orientation:
Plus strand

Genomic View for SLC44A1 Gene

Genes around SLC44A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC44A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC44A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC44A1 Gene

Proteins for SLC44A1 Gene

  • Protein details for SLC44A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WWI5-CTL1_HUMAN
    Recommended name:
    Choline transporter-like protein 1
    Protein Accession:
    Q8WWI5
    Secondary Accessions:
    • A6NLZ9
    • Q5VUB3
    • Q8WVB0
    • Q96KU3
    • Q9NY69

    Protein attributes for SLC44A1 Gene

    Size:
    657 amino acids
    Molecular mass:
    73302 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC44A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC44A1 Gene

Post-translational modifications for SLC44A1 Gene

  • Ubiquitination at isoforms=648
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC44A1 Gene

Domains & Families for SLC44A1 Gene

Gene Families for SLC44A1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • CD markers
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC44A1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC44A1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WWI5

UniProtKB/Swiss-Prot:

CTL1_HUMAN :
  • Belongs to the CTL (choline transporter-like) family.
Family:
  • Belongs to the CTL (choline transporter-like) family.
genes like me logo Genes that share domains with SLC44A1: view

Function for SLC44A1 Gene

Molecular function for SLC44A1 Gene

UniProtKB/Swiss-Prot Function:
Choline transporter. May be involved in membrane synthesis and myelin production.

Phenotypes From GWAS Catalog for SLC44A1 Gene

Gene Ontology (GO) - Molecular Function for SLC44A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015220 choline transmembrane transporter activity TAS 10677542
genes like me logo Genes that share ontologies with SLC44A1: view
genes like me logo Genes that share phenotypes with SLC44A1: view

Animal Models for SLC44A1 Gene

MGI Knock Outs for SLC44A1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SLC44A1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC44A1 Gene

Localization for SLC44A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC44A1 Gene

Cell membrane; Multi-pass membrane protein. Mitochondrion outer membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC44A1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
mitochondrion 5
nucleus 4

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC44A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA,IEA --
GO:0005741 mitochondrial outer membrane TAS --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IDA,IEA 19946888
genes like me logo Genes that share ontologies with SLC44A1: view

Pathways & Interactions for SLC44A1 Gene

genes like me logo Genes that share pathways with SLC44A1: view

Pathways by source for SLC44A1 Gene

Gene Ontology (GO) - Biological Process for SLC44A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006656 phosphatidylcholine biosynthetic process TAS --
GO:0006810 transport IEA --
GO:0015871 choline transport TAS 10677542
GO:0042426 choline catabolic process TAS --
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with SLC44A1: view

No data available for SIGNOR curated interactions for SLC44A1 Gene

Drugs & Compounds for SLC44A1 Gene

(2) Drugs for SLC44A1 Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Choline Approved Nutra Transporter, substrate 166
hemicholinium-3 Pharma Inhibition, Inhibitor 0
genes like me logo Genes that share compounds with SLC44A1: view

Transcripts for SLC44A1 Gene

Unigene Clusters for SLC44A1 Gene

Solute carrier family 44, member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SLC44A1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SLC44A1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b · 19c ^ 20
SP1: - - -
SP2: - - - - -
SP3: - - - - - -
SP4:
SP5:

Relevant External Links for SLC44A1 Gene

GeneLoc Exon Structure for
SLC44A1
ECgene alternative splicing isoforms for
SLC44A1

Expression for SLC44A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC44A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC44A1 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x5.9).

Protein differential expression in normal tissues from HIPED for SLC44A1 Gene

This gene is overexpressed in Nasal epithelium (45.0) and Spinal cord (10.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC44A1 Gene



Protein tissue co-expression partners for SLC44A1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC44A1 Gene:

SLC44A1

SOURCE GeneReport for Unigene cluster for SLC44A1 Gene:

Hs.573495

mRNA Expression by UniProt/SwissProt for SLC44A1 Gene:

Q8WWI5-CTL1_HUMAN
Tissue specificity: Expressed in various cells of the hematopoietic system.

Evidence on tissue expression from TISSUES for SLC44A1 Gene

  • Liver(4.4)
  • Lung(4.4)
  • Nervous system(4.2)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with SLC44A1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC44A1 Gene

Orthologs for SLC44A1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC44A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC44A1 34 33
  • 99.78 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC44A1 33 34
  • 94.26 (n)
cow
(Bos Taurus)
Mammalia SLC44A1 33 34
  • 93.99 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC44A1 34
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC44A1 34
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc44a1 33 16 34
  • 90.65 (n)
rat
(Rattus norvegicus)
Mammalia Slc44a1 33
  • 90.5 (n)
chicken
(Gallus gallus)
Aves SLC44A1 33 34
  • 82.35 (n)
lizard
(Anolis carolinensis)
Reptilia SLC44A1 34
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc44a1 33
  • 77.79 (n)
Str.10457 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.16481 33
zebrafish
(Danio rerio)
Actinopterygii slc44a1b 34
  • 80 (a)
OneToMany
slc44a1a 33 34
  • 66.31 (n)
SLC44A1 (2 of 3) 34
  • 66 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG1311 33 34
  • 50.26 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta CTLH1_ANOGA 33
  • 47.37 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PNS1 34
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1906 34
  • 44 (a)
OneToMany
Species where no ortholog for SLC44A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SLC44A1 Gene

ENSEMBL:
Gene Tree for SLC44A1 (if available)
TreeFam:
Gene Tree for SLC44A1 (if available)

Paralogs for SLC44A1 Gene

Paralogs for SLC44A1 Gene

(3) SIMAP similar genes for SLC44A1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SLC44A1: view

Variants for SLC44A1 Gene

Sequence variations from dbSNP and Humsavar for SLC44A1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1000005131 -- 105,243,218(+) CCTGC(C/T)ACCAG upstream-variant-2KB
rs1000014398 -- 105,433,657(+) CCAAC(A/C)CATCT intron-variant
rs1000015443 -- 105,244,198(+) GGCGG(C/T)AAGAA upstream-variant-2KB
rs1000018002 -- 105,375,035(+) TTTTT(-/G)TTGTT intron-variant
rs1000032705 -- 105,409,264(+) AATAG(C/T)CATCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC44A1 Gene

Variant ID Type Subtype PubMed ID
esv2657248 CNV deletion 23128226
esv2738882 CNV deletion 23290073
esv3891705 CNV loss 25118596
esv3891706 CNV gain 25118596
nsv1037750 CNV gain 25217958
nsv831678 CNV gain+loss 17160897

Variation tolerance for SLC44A1 Gene

Residual Variation Intolerance Score: 29.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.40; 81.78% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC44A1 Gene

Human Gene Mutation Database (HGMD)
SLC44A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC44A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC44A1 Gene

Disorders for SLC44A1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SLC44A1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
postural orthostatic tachycardia syndrome
  • chronic othostatic intolerance
choline deficiency disease
  • choline deficiency
toxocariasis
  • infection by toxascaris
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC44A1

Genetic Association Database (GAD)
SLC44A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC44A1
genes like me logo Genes that share disorders with SLC44A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC44A1 Gene

Publications for SLC44A1 Gene

  1. Characterization of CDw92 as a member of the choline transporter-like protein family regulated specifically on dendritic cells. (PMID: 11698453) Wille S … Stockinger H (Journal of immunology (Baltimore, Md. : 1950) 2001) 2 3 4 22 60
  2. An electric lobe suppressor for a yeast choline transport mutation belongs to a new family of transporter-like proteins. (PMID: 10677542) O'Regan S … Meunier FM (Proceedings of the National Academy of Sciences of the United States of America 2000) 2 3 4 60
  3. Involvement of choline transporter-like proteins, CTL1 and CTL2, in glucocorticoid-induced acceleration of phosphatidylcholine synthesis via increased choline uptake. (PMID: 20410607) Nakamura T … Tamai I (Biological & pharmaceutical bulletin 2010) 3 22 60
  4. Detection of choline transporter-like 1 protein CTL1 in neuroblastoma x glioma cells and in the CNS, and its role in choline uptake. (PMID: 19519661) Machová E … Dolezal V (Journal of neurochemistry 2009) 3 22 60
  5. Meta-analysis of genome-wide association data identifies two loci influencing age at menarche. (PMID: 19448620) Perry JR … Murabito JM (Nature genetics 2009) 3 45 60

Products for SLC44A1 Gene

Sources for SLC44A1 Gene

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