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Aliases for SLC44A4 Gene

Aliases for SLC44A4 Gene

  • Solute Carrier Family 44 Member 4 2 3 4 5
  • C6orf29 3 4
  • CTL4 3 4
  • NG22 3 4
  • Chromosome 6 Open Reading Frame 29 2
  • Solute Carrier Family 44, Member 4 2
  • Choline Transporter-Like Protein 4 3
  • Thiamine Pyrophosphate Transporter 3
  • 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. Diseases associated with SLC44A4 include Endocervical Carcinoma. 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 SLC44A2.

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

Enhancers for SLC44A4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F031567 1.8 FANTOM5 Ensembl ENCODE 10.1 +300.8 300776 22.5 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF548 DDX39B TNF LY6G5B DHX16 ATF6B LSM2 MICA TCF19 C6orf47 PPT2
GH06F031876 1.2 Ensembl ENCODE 12.7 +0.4 408 4.2 HDGF ELF3 PKNOX1 MLX KLF17 ARID4B THRB ZNF48 ZBTB40 RAD21 HLA-DRB5 SKIV2L HLA-DRB1 HLA-C SLC44A4 EHMT2 VWA7 DXO HLA-DQA2 C4B
GH06F031538 1.2 ENCODE 10.1 +337.9 337908 4.9 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF263 MCM3 SP3 TBX21 DDX39B LY6G5B ATF6B DHX16 PPP1R10 LSM2 SKIV2L RPL3P2 TCF19 ABCF1
GH06F031907 1.3 Ensembl ENCODE 8.2 -30.6 -30555 5.2 PKNOX1 ARID4B GTF3C2 ZNF121 GLIS2 KLF7 FOS ZNF263 NFYC MXD4 SKIV2L VARS LY6G5B LSM2 C4A RNU6-850P DDX39B ATF6B CSNK2B GPANK1
GH06F032521 0.8 Ensembl 10.1 -643.0 -642955 0.8 GLI4 ZNF2 ZNF324 ZNF302 ZNF366 ZNF547 ZNF169 KLF8 ZBTB20 SCRT1 HLA-DRB1 HLA-DQA2 HLA-DRB6 HLA-DRB5 HLA-DQB1 DDX39B ATF6B BRD2 LSM2 DAXX
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC44A4 on UCSC Golden Path with GeneCards custom track

Promoters for SLC44A4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001879800 146 201 ZBTB48 ZNF600 ZBTB20

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

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

Gene Ontology (GO) - Molecular Function for SLC44A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015220 choline transmembrane transporter activity TAS --
genes like me logo Genes that share ontologies with SLC44A4: view
genes like me logo Genes that share phenotypes with SLC44A4: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC44A4

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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
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 SLC44A4 gene
Compartment Confidence
plasma membrane 5
extracellular 5

Gene Ontology (GO) - Cellular Components for SLC44A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
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 & 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: ENSP00000229729 Q53GD3-CTL4_HUMAN for SLC44A4 Gene via STRING IID

Gene Ontology (GO) - Biological Process for SLC44A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006656 phosphatidylcholine biosynthetic process TAS --
GO:0008292 acetylcholine biosynthetic process IMP 23651124
GO:0015871 choline transport IEA --
GO:0030307 positive regulation of cell growth IMP 23651124
GO:0055085 transmembrane transport 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 148
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:

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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



Protein tissue co-expression partners for SLC44A4 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC44A4 Gene:

SLC44A4

SOURCE GeneReport for Unigene cluster for SLC44A4 Gene:

Hs.335355
genes like me logo Genes that share expression patterns with SLC44A4: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia SLC44A4 34 35
  • 99.01 (n)
dog
(Canis familiaris)
Mammalia SLC44A4 34 35
  • 87.19 (n)
cow
(Bos Taurus)
Mammalia SLC44A4 34 35
  • 85.1 (n)
rat
(Rattus norvegicus)
Mammalia Slc44a4 34
  • 81.82 (n)
mouse
(Mus musculus)
Mammalia Slc44a4 34 16 35
  • 81.49 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC44A4 35
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC44A4 35
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC44A4 35
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc44a4 34
  • 62.44 (n)
zebrafish
(Danio rerio)
Actinopterygii slc44a4 34
  • 62.72 (n)
SLC44A4 35
  • 48 (a)
OneToOne
zgc64108 34
fruit fly
(Drosophila melanogaster)
Insecta CG11880 34 35
  • 51.29 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta CTLH2_ANOGA 34
  • 47.98 (n)
worm
(Caenorhabditis elegans)
Secernentea chtl-1 35
  • 36 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PNS1 35
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 45 (a)
OneToMany
Species where no ortholog for SLC44A4 was found in the sources mined by GeneCards:
  • 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
rs563426936 A colorectal cancer sample 31,869,156(+) TTACC(A/G)TGGGG reference, missense
VAR_036210 A colorectal cancer sample
rs104893986 Pathogenic 31,862,708(-) TTCTG(A/G)GGAGG downstream-variant-500B, reference, stop-gained
rs1049474 -- 31,879,923(-) GAGGT(C/T)TGACA upstream-variant-2KB, utr-variant-3-prime
rs111558317 -- 31,867,729(+) AAAAG(-/A)AAAAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv601960 CNV loss 21841781
nsv509126 CNV insertion 20534489
nsv508399 CNV deletion 20534489
nsv1126749 CNV deletion 24896259
nsv1112900 CNV deletion 24896259
nsv1073969 CNV deletion 25765185
dgv10463n54 CNV loss 21841781
dgv10461n54 CNV loss 21841781
dgv10404n54 CNV loss 21841781
dgv10403n54 CNV loss 21841781

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

Human Gene Mutation Database (HGMD)
SLC44A4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC44A4

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

Disorders for SLC44A4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC44A4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
endocervical carcinoma
  • carcinoma of endocervix
- elite association - COSMIC cancer census association via MalaCards

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

No data available for 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 64
  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 64
  3. 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 46 64
  4. Refining the association of MHC with multiple sclerosis in African Americans. (PMID: 20466734) McElroy J.P. … Gourraud P.A. (Hum. Mol. Genet. 2010) 3 46 64
  5. Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC. (PMID: 20526339) Quan C. … Zhang X.J. (Nat. Genet. 2010) 3 46 64

Products for SLC44A4 Gene

Sources for SLC44A4 Gene

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