Aliases for SLC44A1 Gene

Aliases for SLC44A1 Gene

  • Solute Carrier Family 44 Member 1 2 3 4 5
  • CD92 2 3 4
  • CTL1 2 3 4
  • Solute Carrier Family 44 (Choline Transporter), Member 1 2 3
  • Choline Transporter-Like Protein 1 3 4
  • CDW92 Antigen 2 3
  • CDW92 3 4
  • CHTL1 2 3
  • CDw92 2 4
  • CD92 Antigen 4
  • CONATOC 3
  • SLC44A1 5

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 Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline and Postural Orthostatic Tachycardia Syndrome. Among its related pathways are Phospholipase D signaling pathway and Synthesis of PC. Gene Ontology (GO) annotations related to this gene include choline transmembrane transporter activity. An important paralog of this gene is SLC44A3.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for SLC44A1 Gene

Genomics for SLC44A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC44A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J105242 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 606.6 +0.3 289 5 BRCA1 SP1 HNRNPL GATAD2A CTCF PRDM10 ZNF629 TFE3 ZNF512 SIX5 SLC44A1 ENSG00000286536 LOC112268038 NONHSAG053105.2 lnc-ABCA1-8 FKTN RALGAPA1P1 FSD1L
GH09J105288 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 18.6 +49.9 49896 13 BRCA1 CEBPG CREB1 GATAD2A TFE3 SOX13 RCOR2 JUND FOXA1 RFX1 SLC44A1 ABCA1 FSD1L TMEM38B RF00998-138 NONHSAG053105.2 MN298678-149
GH09J105402 Enhancer 1.1 FANTOM5 Ensembl ENCODE 8.2 +160.2 160153 3.7 STAT3 RELA TCF12 IKZF2 RCOR1 TRIM22 GABPA PKNOX1 ARID3A DPF2 SLC44A1 lnc-FSD1L-1 FSD1L
GH09J105413 Enhancer 0.7 Ensembl ENCODE 12.1 +169.0 168996 0.8 CTCF IKZF1 RXRB RAD21 POLR2A SMC3 SMAD5 RXRA ARID4B TRIM22 SLC44A1 FSD1L lnc-FSD1L-1
GH09J105280 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 6.5 +37.7 37749 4.5 ZNF316 FOXA2 MAFF MAFK MAFG HOMEZ HNF4A RXRA JUND HNF4G ABCA1 SLC44A1 TMEM38B FSD1L RF00998-138 NONHSAG053105.2 MN298678-149
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC44A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC44A1

Top Transcription factor binding sites by QIAGEN in the SLC44A1 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • Chx10
  • CUTL1
  • POU2F1
  • POU2F1a
  • POU3F2

Genomic Locations for SLC44A1 Gene

Genomic Locations for SLC44A1 Gene
chr9:105,244,605-105,439,775
(GRCh38/hg38)
Size:
195,171 bases
Orientation:
Plus strand
chr9:108,006,903-108,201,452
(GRCh37/hg19)
Size:
194,550 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

  • Glycosylation at Asn135 and Asn180
  • Ubiquitination at Lys648
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Antibody Products

  • Abcam antibodies for SLC44A1
  • Biorbyt antibodies for SLC44A1
  • Boster Bio Antibodies for SLC44A1
  • Santa Cruz Biotechnology (SCBT) Antibodies for SLC44A1

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:
  • Solute carrier family 44 member 1 (CTL1_HUMAN)

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 IMP,TAS 10677542
GO:0022857 transmembrane transporter activity IBA 21873635
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:
  • Slc44a1 Slc44a1<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC44A1

Clone Products

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 4
mitochondrion 4
nucleus 4
cytosol 4
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

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 IEA,IDA 26746385
GO:0005741 mitochondrial outer membrane TAS --
GO:0005829 cytosol IDA 21185344
GO:0005886 plasma membrane TAS --
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:0015871 choline transport IMP,TAS 10677542
GO:0042426 choline catabolic process TAS --
GO:0055085 transmembrane transport IMP,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

(3) 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 223
Choline salicylate Approved Nutra Transporter, substrate 0
hemicholinium-3 Pharma Inhibitor, Inhibition 0
genes like me logo Genes that share compounds with SLC44A1: view

Transcripts for SLC44A1 Gene

mRNA/cDNA for SLC44A1 Gene

4 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC44A1

Clone Products

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

Expression for SLC44A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for SLC44A1 Gene



Protein tissue co-expression partners for SLC44A1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.6)
  • Lung(4.5)
  • Nervous system(4.4)
  • Eye(4.2)
  • Intestine(2.6)
  • Kidney(2.5)
  • Skin(2.4)
  • Blood(2.3)
  • Heart(2.3)
  • Spleen(2.2)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with SLC44A1: view

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 30 31
  • 99.78 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC44A1 30 31
  • 94.26 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC44A1 30 31
  • 93.99 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC44A1 31
  • 92 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SLC44A1 31
  • 91 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Slc44a1 30 17 31
  • 90.65 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc44a1 30
  • 90.5 (n)
Chicken
(Gallus gallus)
Aves SLC44A1 30 31
  • 82.35 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC44A1 31
  • 88 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc44a1 30
  • 77.79 (n)
Str.10457 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.16481 30
Zebrafish
(Danio rerio)
Actinopterygii slc44a1b 31
  • 80 (a)
OneToMany
slc44a1a 30 31
  • 66.31 (n)
OneToMany
SLC44A1 (2 of 3) 31
  • 66 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG1311 30 31
  • 50.26 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta CTLH1_ANOGA 30
  • 47.37 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PNS1 31
  • 14 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1906 31
  • 44 (a)
OneToMany
Species where no ortholog for SLC44A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SLC44A1: view image

Paralogs for SLC44A1 Gene

Paralogs for SLC44A1 Gene

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

  • CTL1_HUMAN
  • H9KV47_HUMAN
genes like me logo Genes that share paralogs with SLC44A1: view

Variants for SLC44A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC44A1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
804415 Likely Pathogenic: Neurodevelopmental disorder 105,362,929(+) C/T NONSENSE
848628 Uncertain Significance: not provided 105,362,973(+) C/G NONSENSE
870502 Pathogenic: NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE 105,374,650(+) AG/A FRAMESHIFT_VARIANT
870503 Pathogenic: NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE 105,335,666(+) CTGAG/C FRAMESHIFT_VARIANT
rs3199966 - p.Ser644Ala

Additional dbSNP identifiers (rs#s) for SLC44A1 Gene

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)

Additional Variant Information 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

(8) MalaCards diseases for SLC44A1 Gene - From: OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
  • conatoc
postural orthostatic tachycardia syndrome
  • neurocirculatory asthenia
papillary glioneuronal tumors
  • papillary glioneuronal tumor
toxocariasis
  • infection by toxascaris
choline deficiency disease
  • choline deficiency
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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 23
  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
  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 23
  4. The solute carrier 44A1 is a mitochondrial protein and mediates choline transport. (PMID: 19357133) Michel V … Bakovic M (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2009) 3 4
  5. 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 23

Products for SLC44A1 Gene

  • Biorbyt antibodies for SLC44A1

Sources for SLC44A1 Gene