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Aliases for SLC44A1 Gene
Aliases for SLC44A1 Gene
External Ids for SLC44A1 Gene
- HGNC: 18798
- Entrez Gene: 23446
- Ensembl: ENSG00000070214
- OMIM: 606105
- UniProtKB: Q8WWI5
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.
Additional gene information for SLC44A1 Gene
- HGNC(18798)
- Entrez Gene(23446)
- Ensembl(ENSG00000070214)
- OMIM(606105)
- UniProtKB(Q8WWI5)
- Open Targets Platform(ENSG00000070214)
- Search for SLC44A1 at DataMed
- Search for SLC44A1 at HumanCyc
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
- 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:
-
- 9q31.1-q31.2 by HGNC
- 9q31.1-q31.2 by Entrez Gene
- 9q31.1 by Ensembl
SLC44A1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- A6NLZ9
- Q5VUB3
- Q8WVB0
- Q96KU3
- Q9NY69
Protein attributes for SLC44A1 Gene
- Size:
- 657 amino acids
- Molecular mass:
- 73302 Da
- Quaternary structure:
- No Data Available
Protein Expression for SLC44A1 Gene
Post-translational modifications for SLC44A1 Gene
Other Protein References for SLC44A1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ SLC44A1 Antibody
-
Custom Antibody ServicesOriGene Antibodies for SLC44A1
- Novus Biologicals Antibodies for SLC44A1
-
Abcam antibodies for SLC44A1
- Invitrogen Antibodies for SLC44A1 (AFLGC-Slc44a1)
-
Biorbyt antibodies for SLC44A1
-
Boster Bio Antibodies for SLC44A1
-
Santa Cruz Biotechnology (SCBT) Antibodies for SLC44A1
- Sino Biological Antibodies for SLC44A1
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for SLC44A1
- Origene Custom Protein Services for SLC44A1
- Novus Biologicals proteins for SLC44A1
- antibodies-online: Show 9 available SLC44A1 Proteins ranked by validation data
- Compare Top SLC44A1 Proteins
-
Quality Products:
-
Abcam proteins 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- Family:
-
- Belongs to the CTL (choline transporter-like) family.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0015220 | choline transmembrane transporter activity | IMP,TAS | 10677542 |
| GO:0022857 | transmembrane transporter activity | IBA | 21873635 |
Phenotypes for SLC44A1 Gene
- MGI mutant phenotypes for SLC44A1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for SLC44A1:
Animal Models for SLC44A1 Gene
- MGI Knock Outs for SLC44A1:
-
- Slc44a1 Slc44a1<tm1b(EUCOMM)Hmgu>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SLC44A1 - Select products 50% OFF >
- * SLC44A1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SLC44A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC44A1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC44A1
miRNA for SLC44A1 Gene
- miRTarBase miRNAs that target SLC44A1
-
- hsa-miR-1-3p (MIRT003770)
- hsa-miR-130b-3p (MIRT020227)
- hsa-miR-124-3p (MIRT022442)
- hsa-miR-122-5p (MIRT023254)
- hsa-miR-19b-3p (MIRT031133)
- hsa-miR-545-5p (MIRT445611)
- hsa-miR-7161-3p (MIRT445612)
- hsa-miR-3156-5p (MIRT445613)
- hsa-miR-3185 (MIRT449584)
- hsa-miR-203a-3p (MIRT449585)
- hsa-miR-3646 (MIRT449586)
- hsa-miR-3941 (MIRT614763)
- hsa-miR-6865-3p (MIRT614764)
- hsa-miR-4789-3p (MIRT614765)
- hsa-miR-603 (MIRT614766)
- hsa-miR-362-3p (MIRT614767)
- hsa-miR-329-3p (MIRT614768)
- hsa-miR-8485 (MIRT614769)
- hsa-miR-5000-3p (MIRT616188)
- hsa-miR-4436a (MIRT616189)
- hsa-miR-1197 (MIRT616190)
- hsa-miR-875-5p (MIRT622204)
- hsa-miR-4684-5p (MIRT627572)
- hsa-miR-4668-5p (MIRT627573)
- hsa-miR-1283 (MIRT627574)
- hsa-miR-3675-3p (MIRT627575)
- hsa-miR-4311 (MIRT627576)
- hsa-miR-6809-5p (MIRT636227)
- hsa-miR-5695 (MIRT636228)
- hsa-miR-6830-5p (MIRT636229)
- hsa-miR-651-3p (MIRT636230)
- hsa-miR-2681-5p (MIRT717255)
- hsa-miR-186-5p (MIRT717256)
- hsa-miR-3133 (MIRT717257)
- hsa-let-7a-2-3p (MIRT783018)
- hsa-let-7c-3p (MIRT783027)
- hsa-let-7g-3p (MIRT783036)
- hsa-miR-129-5p (MIRT783596)
- hsa-miR-4797-5p (MIRT786842)
- hsa-miR-493-5p (MIRT786905)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC44A1
- Browse OriGene Inhibitory RNA Products For SLC44A1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC44A1
Clone Products
- Applied Biological Materials (abm): Clones for SLC44A1 - Select products 50% OFF >
- * SLC44A1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG223818
- MG225194
- MR223818
- MR223818L3
- MR223818L4
- MR225194
- MR225194L3
- MR225194L4
- RC208237
- RC208237L1
- RC208237L2
- RC208237L3
- RC208237L4
- RC239212
- RG208237
- RR200247
- RR200247L3
- RR200247L4
- RR200248
- RR200248L3
- RR200248L4
- MR223818L3V
- MR223818L4V
- MR225194L3V
- MR225194L4V
- RC208237L1V
- RC208237L2V
- RC208237L3V
- RC208237L4V
- RR200247L3V
- RR200247L4V
- RR200248L3V
- RR200248L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SLC44A1
- Addgene plasmids for SLC44A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC44A1
Cell Line Products
-
Horizon Cell Lines for SLC44A1
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.
| 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 |
- Mitochondria (3)
- Nucleoplasm (2)
| 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 | -- |
Pathways & Interactions for SLC44A1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Glycerophospholipid biosynthesis | ||
| 2 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds | ||
| 3 | Metabolism |
.40
|
|
| 4 | Phospholipase D signaling pathway | ||
| 5 | Synthesis of PC | ||
Pathways by source for SLC44A1 Gene
9 Reactome pathways for SLC44A1 Gene
1 KEGG pathway for SLC44A1 Gene
Interacting Proteins for SLC44A1 Gene
Selected Interacting proteins:
Q8WWI5-CTL1_HUMAN
ENSP00000363852
for SLC44A1 Gene via
MINT
STRING
IID
GPS-Prot Interaction Network for SLC44A1
| 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 | -- |
No data available for SIGNOR curated interactions for SLC44A1 Gene
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 :
-
- ENST00000374720 10482 nts (view in UCSC)
- ENST00000374723 9640 nts (view in UCSC)
- ENST00000374724 3088 nts (view in UCSC)
- ENST00000436716 576 nts (view in UCSC)
- ENST00000470972 10433 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SLC44A1 - Select products 50% OFF >
- * SLC44A1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SLC44A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC44A1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC44A1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC44A1
- Browse OriGene Inhibitory RNA Products For SLC44A1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC44A1
Clone Products
- Applied Biological Materials (abm): Clones for SLC44A1 - Select products 50% OFF >
- * SLC44A1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG223818
- MG225194
- MR223818
- MR223818L3
- MR223818L4
- MR225194
- MR225194L3
- MR225194L4
- RC208237
- RC208237L1
- RC208237L2
- RC208237L3
- RC208237L4
- RC239212
- RG208237
- RR200247
- RR200247L3
- RR200247L4
- RR200248
- RR200248L3
- RR200248L4
- MR223818L3V
- MR223818L4V
- MR225194L3V
- MR225194L4V
- RC208237L1V
- RC208237L2V
- RC208237L3V
- RC208237L4V
- RR200247L3V
- RR200247L4V
- RR200248L3V
- RR200248L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SLC44A1
- Addgene plasmids for SLC44A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC44A1
| 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 embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Myelinating Oligodendrocyte Cells Forebrain White Matter
- Medulla Oblongata
- Gut Tube (Gastrointestinal Tract)
- Bone (Muscoskeletal System)
-
Glial Cells
- Myelinating Oligodendrocyte Cells Forebrain White Matter
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).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC44A1
SOURCE GeneReport for Unigene cluster for SLC44A1 Gene:
Hs.573495mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for SLC44A1
-
OriGene qPCR primer pairs and template standards for SLC44A1
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SLC44A1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SLC44A1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SLC44A1 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SLC44A1 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | SLC44A1 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Slc44a1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Slc44a1 30 |
|
||
| Chicken (Gallus gallus) |
Aves | SLC44A1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SLC44A1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | slc44a1 30 |
|
||
| Str.10457 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.16481 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | slc44a1b 31 |
|
OneToMany | |
| slc44a1a 30 31 |
|
OneToMany | |||
| SLC44A1 (2 of 3) 31 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG1311 30 31 |
|
OneToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | CTLH1_ANOGA 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PNS1 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.1906 31 |
|
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
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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC44A1 Gene
Disorders for SLC44A1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline |
|
|
| postural orthostatic tachycardia syndrome |
|
|
| papillary glioneuronal tumors |
|
|
| toxocariasis |
|
|
| choline deficiency disease |
|
|
Search SLC44A1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for SLC44A1
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for SLC44A1 Gene
Publications for SLC44A1 Gene
- 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
- 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
- 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
- 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
- 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
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