Aliases for SLC44A5 Gene

Aliases for SLC44A5 Gene

  • Solute Carrier Family 44 Member 5 2 3 4 5
  • CTL5 2 3 4
  • Choline Transporter-Like Protein 5 3 4
  • Solute Carrier Family 44, Member 5 2
  • MGC34032 2
  • SLC44A5 5

External Ids for SLC44A5 Gene

Previous GeneCards Identifiers for SLC44A5 Gene

  • GC01M075385
  • GC01M075667
  • GC01M073802

Summaries for SLC44A5 Gene

GeneCards Summary for SLC44A5 Gene

SLC44A5 (Solute Carrier Family 44 Member 5) is a Protein Coding gene. Diseases associated with SLC44A5 include Choline Deficiency Disease. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Synthesis of PC. An important paralog of this gene is SLC44A2.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC44A5 Gene

Genomics for SLC44A5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC44A5 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
GH01J075722 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 -0.9 -851 6 TBP SP1 BCL11A ZBTB10 MXD4 CEBPA NR2C1 MNT IKZF1 SMAD5 ACADM ENSG00000230863 SLC44A5 lnc-SLC44A5-4 RABGGTB DLSTP1 SNORD45A SNORD45C MSH4 HSALNG0004532
GH01J075615 Promoter/Enhancer 1.7 EPDnew FANTOM5 ENCODE CraniofacialAtlas 250.1 +108.5 108460 1.4 ZBTB10 ZIC2 ZNF610 SIN3A ZNF341 GABPB1 KLF16 ZSCAN5A ZNF2 CTCF HSALNG0004529 SLC44A5 MSH4 AB372670-001 LHX8
GH01J075589 Promoter/Enhancer 0.7 EPDnew Ensembl 255.6 +134.7 134660 1.2 NFE2 ZNF7 SLC44A5 ENSG00000213579 AB372670-001 HSALNG0004528 LHX8
GH01J075611 Promoter 0.3 EPDnew 250.1 +113.2 113163 0.1 SLC44A5 AB372670-001 HSALNG0004529 LHX8
GH01J075472 Enhancer 0.9 Ensembl ENCODE 20.5 +251.1 251058 1.6 TAL1 PRDM6 NFE2 SMARCA4 STAT5A NRF1 FOXM1 TCF12 MTA2 ZNF384 SLC44A5 piR-52368-005 HSALNG0004526 LHX8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC44A5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC44A5

Top Transcription factor binding sites by QIAGEN in the SLC44A5 gene promoter:
  • c-Fos
  • c-Jun
  • c-Myc
  • FosB
  • Fra-1
  • JunB
  • JunD
  • Lhx3a
  • LHX3b
  • Max1

Genomic Locations for SLC44A5 Gene

Latest Assembly
chr1:75,202,129-75,724,261
(GRCh38/hg38)
Size:
522,133 bases
Orientation:
Minus strand

Previous Assembly
chr1:75,667,814-76,081,848
(GRCh37/hg19 by Entrez Gene)
Size:
414,035 bases
Orientation:
Minus strand

chr1:75,667,816-76,076,801
(GRCh37/hg19 by Ensembl)
Size:
408,986 bases
Orientation:
Minus strand

Genomic View for SLC44A5 Gene

Genes around SLC44A5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC44A5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC44A5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC44A5 Gene

Proteins for SLC44A5 Gene

  • Protein details for SLC44A5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NCS7-CTL5_HUMAN
    Recommended name:
    Choline transporter-like protein 5
    Protein Accession:
    Q8NCS7
    Secondary Accessions:
    • A0A0A0MRP1
    • B5MCU3
    • Q4G0K0
    • Q8NA44
    • Q8NB86

    Protein attributes for SLC44A5 Gene

    Size:
    719 amino acids
    Molecular mass:
    81694 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC03655.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC44A5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC44A5 Gene

Post-translational modifications for SLC44A5 Gene

  • Glycosylation at Asn88, Asn190, and Asn314
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC44A5 Gene

Domains & Families for SLC44A5 Gene

Gene Families for SLC44A5 Gene

Protein Domains for SLC44A5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC44A5 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60667, highly similar to Choline transporter-like protein 5 (B7Z473_HUMAN)
  • Solute carrier family 44 member 5 (CTL5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NCS7

UniProtKB/Swiss-Prot:

CTL5_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 SLC44A5: view

Function for SLC44A5 Gene

Phenotypes From GWAS Catalog for SLC44A5 Gene

Gene Ontology (GO) - Molecular Function for SLC44A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32814053
GO:0022857 transmembrane transporter activity IBA 21873635
genes like me logo Genes that share ontologies with SLC44A5: view
genes like me logo Genes that share phenotypes with SLC44A5: view

Animal Models for SLC44A5 Gene

MGI Knock Outs for SLC44A5:

miRNA for SLC44A5 Gene

miRTarBase miRNAs that target SLC44A5

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC44A5

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC44A5 Gene

Localization for SLC44A5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC44A5 Gene

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 SLC44A5 gene
Compartment Confidence
plasma membrane 5
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SLC44A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IBA 21873635
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC44A5: view

Pathways & Interactions for SLC44A5 Gene

genes like me logo Genes that share pathways with SLC44A5: view

Pathways by source for SLC44A5 Gene

Gene Ontology (GO) - Biological Process for SLC44A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006656 phosphatidylcholine biosynthetic process TAS --
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with SLC44A5: view

No data available for SIGNOR curated interactions for SLC44A5 Gene

Drugs & Compounds for SLC44A5 Gene

No Compound Related Data Available

Transcripts for SLC44A5 Gene

mRNA/cDNA for SLC44A5 Gene

5 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC44A5

Alternative Splicing Database (ASD) splice patterns (SP) for SLC44A5 Gene

No ASD Table

Relevant External Links for SLC44A5 Gene

GeneLoc Exon Structure for
SLC44A5

Expression for SLC44A5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC44A5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC44A5 Gene

This gene is overexpressed in Esophagus - Mucosa (x4.6) and Skin - Sun Exposed (Lower leg) (x4.5).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC44A5

SOURCE GeneReport for Unigene cluster for SLC44A5 Gene:

Hs.654821

Evidence on tissue expression from TISSUES for SLC44A5 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with SLC44A5: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC44A5 Gene

Orthologs for SLC44A5 Gene

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

Orthologs for SLC44A5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC44A5 30 31
  • 97.29 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC44A5 30 31
  • 85.03 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC44A5 30 31
  • 83.85 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Slc44a5 30 17 31
  • 77.18 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc44a5 30
  • 76.01 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 70 (a)
OneToMany
-- 31
  • 66 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia SLC44A5 31
  • 45 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SLC44A5 30 31
  • 71.52 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC44A5 31
  • 56 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc44a5 30
  • 68.18 (n)
Zebrafish
(Danio rerio)
Actinopterygii slc44a5b 30 31
  • 65.15 (n)
OneToMany
slc44a5a 31
  • 61 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG11880 31
  • 31 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea chtl-1 31
  • 34 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PNS1 31 33 33
  • 20 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 42 (a)
OneToMany
Species where no ortholog for SLC44A5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)

Evolution for SLC44A5 Gene

ENSEMBL:
Gene Tree for SLC44A5 (if available)
TreeFam:
Gene Tree for SLC44A5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC44A5: view image

Paralogs for SLC44A5 Gene

Paralogs for SLC44A5 Gene

(4) SIMAP similar genes for SLC44A5 Gene using alignment to 3 proteins:

  • CTL5_HUMAN
  • B7Z473_HUMAN
  • L8EBE8_HUMAN
genes like me logo Genes that share paralogs with SLC44A5: view

Variants for SLC44A5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC44A5 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs1251077 Benign: not provided 75,724,060(-) C/G
NC_000001.11:g.75724060C>G

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLC44A5 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SLC44A5 Gene

Variant ID Type Subtype PubMed ID
dgv111n106 CNV deletion 24896259
dgv55e212 CNV gain 25503493
esv1008813 CNV deletion 20482838
esv1010081 CNV deletion 20482838
esv1169956 CNV insertion 17803354
esv1320217 CNV insertion 17803354
esv1527298 CNV deletion 17803354
esv1700928 CNV deletion 17803354
esv1954052 CNV deletion 18987734
esv2613586 CNV deletion 19546169
esv2749974 CNV deletion 23290073
esv2749985 CNV deletion 23290073
esv2758943 CNV loss 17122850
esv2762155 CNV loss 21179565
esv3390264 CNV insertion 20981092
esv3564248 CNV deletion 23714750
esv3564259 CNV deletion 23714750
esv3581249 CNV gain 25503493
esv3586478 CNV loss 21293372
esv3586482 CNV loss 21293372
esv3586483 CNV loss 21293372
esv3586484 CNV loss 21293372
esv3586485 CNV loss 21293372
esv3586487 CNV gain 21293372
esv4835 CNV loss 18987735
esv7181 CNV loss 19470904
esv994396 CNV deletion 20482838
nsv1011915 CNV gain 25217958
nsv1077946 CNV deletion 25765185
nsv1078521 CNV deletion 25765185
nsv1078876 OTHER inversion 25765185
nsv1119696 CNV deletion 24896259
nsv1121765 CNV deletion 24896259
nsv1139481 CNV duplication 24896259
nsv1153366 CNV deletion 26484159
nsv1455 CNV deletion 18451855
nsv159607 CNV deletion 16902084
nsv435643 CNV deletion 17901297
nsv475085 CNV novel sequence insertion 20440878
nsv477434 CNV novel sequence insertion 20440878
nsv498673 CNV loss 21111241
nsv508304 CNV deletion 20534489
nsv519329 CNV gain 19592680
nsv546581 CNV loss 21841781
nsv830270 CNV loss 17160897
nsv945999 CNV duplication 23825009
nsv950195 CNV deletion 24416366
nsv957940 CNV deletion 24416366
nsv997508 CNV gain 25217958

Variation tolerance for SLC44A5 Gene

Residual Variation Intolerance Score: 9.49% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.66; 31.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC44A5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC44A5

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC44A5 Gene

Disorders for SLC44A5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC44A5 Gene - From: COP

Disorder Aliases PubMed IDs
choline deficiency disease
  • choline deficiency
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC44A5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SLC44A5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC44A5 Gene

Publications for SLC44A5 Gene

  1. Molecular characterization of the family of choline transporter-like proteins and their splice variants. (PMID: 15715662) Traiffort E … Meunier FM (Journal of neurochemistry 2005) 2 3 4
  2. Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease. (PMID: 21116278) Furney SJ … AddNeuroMed Consortium (Molecular psychiatry 2011) 3 41
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for SLC44A5 Gene

Sources for SLC44A5 Gene