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Aliases for SLC44A4 Gene

Aliases for SLC44A4 Gene

  • Solute Carrier Family 44 Member 4 2 3 4 5
  • Solute Carrier Family 44, Member 4 2 3
  • C6orf29 3 4
  • CTL4 3 4
  • NG22 3 4
  • Chromosome 6 Open Reading Frame 29 2
  • Testicular Tissue Protein Li 48 3
  • TPPT 3

External Ids for SLC44A4 Gene

Previous HGNC Symbols for SLC44A4 Gene

  • C6orf29

Previous GeneCards Identifiers for SLC44A4 Gene

  • GC06M031940
  • GC06M031830
  • GC06M031628

Summaries for SLC44A4 Gene

Entrez Gene Summary for SLC44A4 Gene

  • The protein encoded by this gene may be a sodium-dependent transmembrane transport protein involved in the uptake of choline by cholinergic neurons. Defects in this gene can cause sialidosis, a lysosomal storage disease. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

GeneCards Summary for SLC44A4 Gene

SLC44A4 (Solute Carrier Family 44 Member 4) is a Protein Coding gene. Among its related pathways are Metabolism and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. An important paralog of this gene is SLC44A1.

Gene Wiki entry for SLC44A4 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC44A4 Gene

Genomics for SLC44A4 Gene

Regulatory Elements for SLC44A4 Gene

Promoters for SLC44A4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC44A4 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC44A4 Gene

Chromosome:
6
Start:
31,863,192 bp from pter
End:
31,879,046 bp from pter
Size:
15,855 bases
Orientation:
Minus strand

Genomic View for SLC44A4 Gene

Genes around SLC44A4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC44A4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC44A4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for SLC44A4 Gene

  • Protein details for SLC44A4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q53GD3-CTL4_HUMAN
    Recommended name:
    Choline transporter-like protein 4
    Protein Accession:
    Q53GD3
    Secondary Accessions:
    • A2BED3
    • B0UXX8
    • B0UZY8
    • B4DU94
    • B4DWM2
    • E9PEK7
    • Q5JP84
    • Q5JQ93
    • Q658S8
    • Q6UX89
    • Q8TEW4
    • Q96C58
    • Q96K59
    • Q9Y332

    Protein attributes for SLC44A4 Gene

    Size:
    710 amino acids
    Molecular mass:
    79254 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC44A4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC44A4 Gene

Proteomics data for SLC44A4 Gene at MOPED

Post-translational modifications for SLC44A4 Gene

  • Glycosylation at Asn 69, Asn 155, Asn 197, Asn 298, Asn 393, Asn 405, and Asn 416
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC44A4 Gene

No data available for DME Specific Peptides for SLC44A4 Gene

Domains & Families for SLC44A4 Gene

Gene Families for SLC44A4 Gene

Protein Domains for SLC44A4 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q53GD3

UniProtKB/Swiss-Prot:

CTL4_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 SLC44A4: view

Function for SLC44A4 Gene

genes like me logo Genes that share phenotypes with SLC44A4: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC44A4

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SLC44A4 Gene

Localization for SLC44A4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC44A4 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC44A4 Gene COMPARTMENTS Subcellular localization image for SLC44A4 gene
Compartment Confidence
plasma membrane 3

No data available for Gene Ontology (GO) - Cellular Components for SLC44A4 Gene

Pathways & Interactions for SLC44A4 Gene

genes like me logo Genes that share pathways with SLC44A4: view

Pathways by source for SLC44A4 Gene

Interacting Proteins for SLC44A4 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000229729%0d%0a9606.ENSP00000355173%0d%0a
Selected Interacting proteins: Q53GD3-CTL4_HUMAN ENSP00000229729 for SLC44A4 Gene via I2D STRING

Gene Ontology (GO) - Biological Process for SLC44A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006644 phospholipid metabolic process TAS --
GO:0006656 phosphatidylcholine biosynthetic process TAS --
GO:0015871 choline transport TAS --
GO:0030307 positive regulation of cell growth IMP 23651124
GO:0046474 glycerophospholipid biosynthetic process TAS --
genes like me logo Genes that share ontologies with SLC44A4: view

No data available for SIGNOR curated interactions for SLC44A4 Gene

Drugs & Compounds for SLC44A4 Gene

(1) Drugs for SLC44A4 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Choline Approved Nutra Transporter, substrate 130
genes like me logo Genes that share compounds with SLC44A4: view

Transcripts for SLC44A4 Gene

Unigene Clusters for SLC44A4 Gene

Solute carrier family 44, member 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC44A4 Gene

No ASD Table

Relevant External Links for SLC44A4 Gene

GeneLoc Exon Structure for
SLC44A4
ECgene alternative splicing isoforms for
SLC44A4

Expression for SLC44A4 Gene

mRNA expression in normal human tissues for SLC44A4 Gene

mRNA differential expression in normal tissues according to GTEx for SLC44A4 Gene

This gene is overexpressed in Colon - Transverse (x16.4), Stomach (x6.7), Prostate (x6.4), and Small Intestine - Terminal Ileum (x5.4).

Protein differential expression in normal tissues from HIPED for SLC44A4 Gene

This gene is overexpressed in Urine (56.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC44A4 Gene



SOURCE GeneReport for Unigene cluster for SLC44A4 Gene Hs.335355

genes like me logo Genes that share expression patterns with SLC44A4: view

Protein tissue co-expression partners for SLC44A4 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for SLC44A4 Gene

Orthologs for SLC44A4 Gene

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

Orthologs for SLC44A4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC44A4 35
  • 85.1 (n)
  • 86.14 (a)
SLC44A4 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC44A4 35
  • 87.19 (n)
  • 86.86 (a)
SLC44A4 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc44a4 35
  • 81.49 (n)
  • 83.1 (a)
Slc44a4 16
Slc44a4 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC44A4 35
  • 99.01 (n)
  • 99 (a)
SLC44A4 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc44a4 35
  • 81.82 (n)
  • 82.81 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC44A4 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC44A4 36
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC44A4 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc44a4 35
  • 62.44 (n)
  • 63.4 (a)
zebrafish
(Danio rerio)
Actinopterygii slc44a4 35
  • 62.72 (n)
  • 59.91 (a)
zgc64108 35
SLC44A4 36
  • 48 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta CTLH2_ANOGA 35
  • 47.98 (n)
  • 42.83 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11880 35
  • 51.29 (n)
  • 41.46 (a)
CG11880 36
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea chtl-1 36
  • 36 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PNS1 36
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
OneToMany
Species with no ortholog for SLC44A4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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)

Evolution for SLC44A4 Gene

ENSEMBL:
Gene Tree for SLC44A4 (if available)
TreeFam:
Gene Tree for SLC44A4 (if available)

Paralogs for SLC44A4 Gene

Paralogs for SLC44A4 Gene

(2) SIMAP similar genes for SLC44A4 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SLC44A4: view

Variants for SLC44A4 Gene

Sequence variations from dbSNP and Humsavar for SLC44A4 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs2075798 - 31,878,964(-) GCAGC(A/G/T)GGACG upstream-variant-2KB, reference, missense
rs2242665 - 31,871,532(-) CCAAC(A/G)TTACT reference, missense
rs644827 - 31,870,664(+) GAGCA(C/T)CAGCA reference, missense
rs6915800 - 31,865,883(+) TGTGC(A/G)GATGA reference, missense
VAR_036210 A colorectal cancer sample

Structural Variations from Database of Genomic Variants (DGV) for SLC44A4 Gene

Variant ID Type Subtype PubMed ID
dgv6583n71 CNV Loss 21882294
nsv884472 CNV Loss 21882294
nsv508399 CNV Loss 20534489
nsv509126 CNV Insertion 20534489
dgv6595n71 CNV Loss 21882294

Variation tolerance for SLC44A4 Gene

Residual Variation Intolerance Score: 67.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.97; 68.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC44A4 Gene

HapMap Linkage Disequilibrium report
SLC44A4
Human Gene Mutation Database (HGMD)
SLC44A4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC44A4 Gene

Disorders for SLC44A4 Gene

UniProtKB/Swiss-Prot

CTL4_HUMAN
  • Note=An interstitial deletion causing the fusion of exon 10 of CTL4 with the 3-UTR of NEU has been detected in two patients affected by sialidosis.

Relevant External Links for SLC44A4

Genetic Association Database (GAD)
SLC44A4
Human Genome Epidemiology (HuGE) Navigator
SLC44A4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC44A4

No disorders were found for SLC44A4 Gene.

No data available for MalaCards and Genatlas for SLC44A4 Gene

Publications for SLC44A4 Gene

  1. 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 F.-M. (Proc. Natl. Acad. Sci. U.S.A. 2000) 2 3 4 67
  2. Molecular identification and functional characterization of the human colonic thiamine pyrophosphate transporter. (PMID: 24379411) Nabokina S.M. … Said H.M. (J. Biol. Chem. 2014) 2 3
  3. Molecular characterization of the family of choline transporter-like proteins and their splice variants. (PMID: 15715662) Traiffort E. … Meunier F.-M. (J. Neurochem. 2005) 2 3
  4. Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis. (PMID: 24837172) Juyal G. … Thelma B.K. (Gut 2015) 3
  5. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 3

Products for SLC44A4 Gene

Sources for SLC44A4 Gene

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