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Aliases for SLC44A4 Gene

Aliases for SLC44A4 Gene

  • Solute Carrier Family 44, Member 4 2 3
  • C6orf29 3 4 6
  • CTL4 3 4 6
  • NG22 3 4
  • Chromosome 6 Open Reading Frame 29 2
  • Choline Transporter-Like Protein 4 3
  • Solute Carrier Family 44 Member 4 4
  • TPPT 3

External Ids for SLC44A4 Gene

Previous Symbols for SLC44A4 Gene

  • C6orf29

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 Metabolism. 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

Genomic Location for SLC44A4 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC44A4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Regulatory Elements for SLC44A4 Gene

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

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn69, Asn155, Asn197, Asn298, Asn393, Asn405, and Asn416

Other Protein References for SLC44A4 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC44A4 Gene

Domains for SLC44A4 Gene

Gene Families for SLC44A4 Gene

Protein Domains for SLC44A4 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

CTL4_HUMAN
Family:
  • Belongs to the CTL (choline transporter-like) family.:
    • Q53GD3
genes like me logo Genes that share domains with SLC44A4: view

Function for SLC44A4 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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 4

Gene Ontology (GO) - Cellular Components for SLC44A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with SLC44A4: view

Pathways for SLC44A4 Gene

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

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: ENSP00000229729 Q53GD3-CTL4_HUMAN for SLC44A4 Gene via STRING I2D

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:0008292 acetylcholine biosynthetic process IMP 23651124
GO:0030307 positive regulation of cell growth IMP 23651124
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with SLC44A4: view

Compounds for SLC44A4 Gene

(1) HMDB Compounds for SLC44A4 Gene

Compound Synonyms Cas Number PubMed IDs
Choline
  • (2-Hydroxyethyl)trimethyl ammonium
62-49-7

(1) Drugbank Compounds for SLC44A4 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Choline
  • Bilineurine
62-49-7 transporter substrate
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 (16.4), Stomach (6.7), Prostate (6.4), and Small Intestine - Terminal Ileum (5.4).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for SLC44A4 Gene

SOURCE GeneReport for Unigene cluster for SLC44A4 Gene Hs.335355

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

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
chimpanzee
(Pan troglodytes)
Mammalia SLC44A4 36
  • 99.01 (n)
  • 99 (a)
SLC44A4 37
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC44A4 36
  • 85.1 (n)
  • 86.14 (a)
SLC44A4 37
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC44A4 36
  • 87.19 (n)
  • 86.86 (a)
SLC44A4 37
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc44a4 36
  • 81.49 (n)
  • 83.1 (a)
Slc44a4 16
Slc44a4 37
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC44A4 37
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC44A4 37
  • 55 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc44a4 36
  • 81.82 (n)
  • 82.81 (a)
lizard
(Anolis carolinensis)
Reptilia SLC44A4 37
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc44a4 36
  • 62.44 (n)
  • 63.4 (a)
zebrafish
(Danio rerio)
Actinopterygii slc44a4 36
  • 62.72 (n)
  • 59.91 (a)
SLC44A4 37
  • 48 (a)
OneToOne
zgc64108 36
African malaria mosquito
(Anopheles gambiae)
Insecta CTLH2_ANOGA 36
  • 47.98 (n)
  • 42.83 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11880 36
  • 51.29 (n)
  • 41.46 (a)
CG11880 37
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea chtl-1 37
  • 36 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PNS1 37
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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

Selected 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 MAF
rs521977 -- 31,869,050(+) CAAGT(G/T)TCTTG intron-variant
rs573098 -- 31,874,113(-) ttttt(A/T)gacgg intron-variant
rs575439 -- 31,869,962(+) CCTGG(G/T)CGACA intron-variant
rs575591 -- 31,870,014(+) ACCCC(G/T)CTGCC intron-variant
rs613281 -- 31,866,540(-) tgcat(C/T)gagat intron-variant

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

Relevant External Links for SLC44A4 Gene

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

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

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
  2. Identification of a CTL4/Neu1 fusion transcript in a sialidosis patient. (PMID: 12067718) Uhl J. … Cantz M. (FEBS Lett. 2002) 3 4
  3. Loci at chromosomes 13, 19 and 20 influence age at natural menopause. (PMID: 19448619) Stolk L. … Uitterlinden A.G. (Nat. Genet. 2009) 3 49
  4. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PMID: 19851445) Barcellos L.F. … Criswell L.A. (PLoS Genet. 2009) 3 49
  5. Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology. (PMID: 20421499) Levy D. … Aviv A. (Proc. Natl. Acad. Sci. U.S.A. 2010) 3 49

Products for SLC44A4 Gene

Sources for SLC44A4 Gene

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