Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	80736
Gene name	Solute carrier family 44 member 4
Gene symbol	SLC44A4
Synonyms (NCBI Gene)	C6orf29CTL4DFNA72NG22TPPThTPPT1
Chromosome	6
Chromosome location	6p21.33
Summary	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

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1135402753	T>C	Pathogenic	Intron variant, coding sequence variant, missense variant

Show/Hide all (94)

miRTarBase ID	miRNA	Experiments
MIRT1364441	hsa-miR-122	CLIP-seq
MIRT1364442	hsa-miR-125a-3p	CLIP-seq
MIRT1364443	hsa-miR-1307	CLIP-seq
MIRT1364444	hsa-miR-1976	CLIP-seq
MIRT1364445	hsa-miR-3198	CLIP-seq
MIRT1364446	hsa-miR-345	CLIP-seq
MIRT1364447	hsa-miR-3934	CLIP-seq
MIRT1364448	hsa-miR-4279	CLIP-seq
MIRT1364449	hsa-miR-4284	CLIP-seq
MIRT1364450	hsa-miR-4309	CLIP-seq
MIRT1364451	hsa-miR-4454	CLIP-seq
MIRT1364452	hsa-miR-4532	CLIP-seq
MIRT1364453	hsa-miR-4634	CLIP-seq
MIRT1364454	hsa-miR-4638-5p	CLIP-seq
MIRT1364455	hsa-miR-4707-3p	CLIP-seq
MIRT1364456	hsa-miR-4722-3p	CLIP-seq
MIRT1364457	hsa-miR-4726-3p	CLIP-seq
MIRT1364458	hsa-miR-4740-3p	CLIP-seq
MIRT1364459	hsa-miR-4772-3p	CLIP-seq
MIRT1364460	hsa-miR-498	CLIP-seq
MIRT1364461	hsa-miR-510	CLIP-seq
MIRT1364444	hsa-miR-1976	CLIP-seq
MIRT1364448	hsa-miR-4279	CLIP-seq
MIRT1364452	hsa-miR-4532	CLIP-seq
MIRT1364453	hsa-miR-4634	CLIP-seq
MIRT1364456	hsa-miR-4722-3p	CLIP-seq
MIRT1364458	hsa-miR-4740-3p	CLIP-seq
MIRT1364459	hsa-miR-4772-3p	CLIP-seq
MIRT1364460	hsa-miR-498	CLIP-seq
MIRT1364441	hsa-miR-122	CLIP-seq
MIRT1364443	hsa-miR-1307	CLIP-seq
MIRT1364444	hsa-miR-1976	CLIP-seq
MIRT1364445	hsa-miR-3198	CLIP-seq
MIRT1364448	hsa-miR-4279	CLIP-seq
MIRT1364449	hsa-miR-4284	CLIP-seq
MIRT1364450	hsa-miR-4309	CLIP-seq
MIRT1364452	hsa-miR-4532	CLIP-seq
MIRT1364453	hsa-miR-4634	CLIP-seq
MIRT1364454	hsa-miR-4638-5p	CLIP-seq
MIRT1364456	hsa-miR-4722-3p	CLIP-seq
MIRT1364457	hsa-miR-4726-3p	CLIP-seq
MIRT1364458	hsa-miR-4740-3p	CLIP-seq
MIRT2331970	hsa-miR-4797-5p	CLIP-seq
MIRT1364460	hsa-miR-498	CLIP-seq
MIRT1364441	hsa-miR-122	CLIP-seq
MIRT1364443	hsa-miR-1307	CLIP-seq
MIRT1364444	hsa-miR-1976	CLIP-seq
MIRT1364445	hsa-miR-3198	CLIP-seq
MIRT1364448	hsa-miR-4279	CLIP-seq
MIRT1364449	hsa-miR-4284	CLIP-seq
MIRT1364450	hsa-miR-4309	CLIP-seq
MIRT1364452	hsa-miR-4532	CLIP-seq
MIRT1364453	hsa-miR-4634	CLIP-seq
MIRT1364454	hsa-miR-4638-5p	CLIP-seq
MIRT1364456	hsa-miR-4722-3p	CLIP-seq
MIRT1364458	hsa-miR-4740-3p	CLIP-seq
MIRT1364459	hsa-miR-4772-3p	CLIP-seq
MIRT1364460	hsa-miR-498	CLIP-seq
MIRT1364444	hsa-miR-1976	CLIP-seq
MIRT1364448	hsa-miR-4279	CLIP-seq
MIRT1364452	hsa-miR-4532	CLIP-seq
MIRT1364456	hsa-miR-4722-3p	CLIP-seq
MIRT1364458	hsa-miR-4740-3p	CLIP-seq
MIRT1364460	hsa-miR-498	CLIP-seq
MIRT1364441	hsa-miR-122	CLIP-seq
MIRT1364443	hsa-miR-1307	CLIP-seq
MIRT1364444	hsa-miR-1976	CLIP-seq
MIRT1364445	hsa-miR-3198	CLIP-seq
MIRT1364448	hsa-miR-4279	CLIP-seq
MIRT1364449	hsa-miR-4284	CLIP-seq
MIRT1364450	hsa-miR-4309	CLIP-seq
MIRT1364452	hsa-miR-4532	CLIP-seq
MIRT1364453	hsa-miR-4634	CLIP-seq
MIRT1364454	hsa-miR-4638-5p	CLIP-seq
MIRT1364456	hsa-miR-4722-3p	CLIP-seq
MIRT1364457	hsa-miR-4726-3p	CLIP-seq
MIRT1364458	hsa-miR-4740-3p	CLIP-seq
MIRT1364459	hsa-miR-4772-3p	CLIP-seq
MIRT1364460	hsa-miR-498	CLIP-seq
MIRT1364441	hsa-miR-122	CLIP-seq
MIRT1364443	hsa-miR-1307	CLIP-seq
MIRT1364444	hsa-miR-1976	CLIP-seq
MIRT1364445	hsa-miR-3198	CLIP-seq
MIRT1364448	hsa-miR-4279	CLIP-seq
MIRT1364449	hsa-miR-4284	CLIP-seq
MIRT1364450	hsa-miR-4309	CLIP-seq
MIRT1364452	hsa-miR-4532	CLIP-seq
MIRT1364453	hsa-miR-4634	CLIP-seq
MIRT1364454	hsa-miR-4638-5p	CLIP-seq
MIRT1364456	hsa-miR-4722-3p	CLIP-seq
MIRT1364457	hsa-miR-4726-3p	CLIP-seq
MIRT1364458	hsa-miR-4740-3p	CLIP-seq
MIRT1364459	hsa-miR-4772-3p	CLIP-seq
MIRT1364460	hsa-miR-498	CLIP-seq

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	24379411
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006656	Process	Phosphatidylcholine biosynthetic process	IEA
GO:0006656	Process	Phosphatidylcholine biosynthetic process	TAS
GO:0008292	Process	Acetylcholine biosynthetic process	IMP	23651124, 28013291
GO:0015220	Function	Choline transmembrane transporter activity	IDA	23651124
GO:0015220	Function	Choline transmembrane transporter activity	IEA
GO:0015220	Function	Choline transmembrane transporter activity	IMP	28013291
GO:0015220	Function	Choline transmembrane transporter activity	TAS
GO:0015297	Function	Antiporter activity	IEA
GO:0015871	Process	Choline transport	IBA
GO:0015871	Process	Choline transport	IDA	23651124
GO:0015871	Process	Choline transport	IMP	23651124, 28013291
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	24379411
GO:0016324	Component	Apical plasma membrane	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0030307	Process	Positive regulation of cell growth	IMP	23651124
GO:0030974	Process	Thiamine pyrophosphate transmembrane transport	IBA
GO:0030974	Process	Thiamine pyrophosphate transmembrane transport	IDA	24379411
GO:0030974	Process	Thiamine pyrophosphate transmembrane transport	IEA
GO:0030974	Process	Thiamine pyrophosphate transmembrane transport	IMP	24379411
GO:0032475	Process	Otolith formation	ISS
GO:0035675	Process	Neuromast hair cell development	ISS
GO:0055085	Process	Transmembrane transport	IEA
GO:0055085	Process	Transmembrane transport	TAS
GO:0061526	Process	Acetylcholine secretion	IMP	23651124, 28013291
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0090422	Function	Thiamine pyrophosphate transmembrane transporter activity	IBA
GO:0090422	Function	Thiamine pyrophosphate transmembrane transporter activity	IEA
GO:0090422	Function	Thiamine pyrophosphate transmembrane transporter activity	IMP	24379411

MIM	HGNC	e!Ensembl
606107	13941	ENSG00000204385

Q53GD3

Protein name

Choline transporter-like protein 4 (Solute carrier family 44 member 4) (Thiamine pyrophosphate transporter 1) (hTPPT1)

Protein function

Choline transporter that plays a role in the choline-acetylcholine system and is required to the efferent innervation of hair cells in the olivocochlear bundle for the maintenance of physiological function of outer hair cells and the protection

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04515	Choline_transpo	314 → 675	Plasma-membrane choline transporter	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in colon, also detected in prostate, trachea and lung (PubMed:24379411). Isoform 3 is also expressed in colon but a lower levels (PubMed:24379411). {ECO:0000269|PubMed:24379411}.; TISSUE SPECIFICITY: [Isoform 3]: Expre

Sequence

MGGKQRDEDDEAYGKPVKYDPSFRGPIKNRSCTDVICCVLFLLFILGYIVVGIVAWLYGD
PRQVLYPRNSTGAYCGMGENKDKPYLLYFNIFSCILSSNIISVAENGLQCPTPQVCVSSC
PEDPWTVGKNEFSQTVGEVFYTKNRNFCLPGVPWNMTVITSLQQELCPSFLLPSAPALGR
CFPWTNVTPPALPGITNDTTIQQGISGLIDSLNARDISVKIFEDFAQSWYWILVALGVAL
VLSLLFILLLRLVAGPLVLVLILGVLGVLAYGIYYCWEEYRVLRDKGASISQLGFTTNLS
AYQSVQETWLAALIVLAVLEAILLLMLIFLRQRIRIAIALLKEASKAVGQMMSTMFYPLV
TFVLLLICIAYWAMTALYLATSGQPQYVLWASNISSPGCEKVPINTSCNPTAHLVNSSCP
GLMCVFQGYSSKGLIQRSVFNLQIYGVLGLFWTLNWVLALGQCVLAGAFASFYWAFHKPQ
DIPTFPLISAFIRTLRYHTGSLAFGALILTLVQIARVILEYIDHKLRGVQNPVARCIMCC
FKCCLWCLEKFIKFLNRNAYIMIAIYGKNFCVSAKNAFMLLMRNIVRVVVLDKVTDLLLF
FGKLLVVGGVGVLSFFFFSGRIPGLGKDFKSPHLNYYWLPIMTSILGAYVIASGFFSVFG
MCVDTLFLCFLEDLERNNGSLDRPYYMSKSLLKILGKKNEAPPDNKKRKK

Sequence length

710

Interactions

View interactions

	KEGG		Reactome
	Choline metabolism in cancer		Synthesis of PC Transport of bile salts and organic acids, metal ions and amine compounds

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Likely benign	rs201671902	RCV005922910
Colorectal cancer	Uncertain significance	rs532108778	RCV005931301
Familial cancer of breast	Benign; Uncertain significance	rs644827, rs201689147	RCV005917929 RCV005922897
Familial pancreatic carcinoma	Benign	rs11966200	RCV005917193
Gastric cancer	Likely benign	rs201671902	RCV005922911
Hearing loss, autosomal dominant 72	Uncertain significance; Benign; Conflicting classifications of pathogenicity; no classifications from unflagged records	rs751632783, rs2242665, rs644827, rs660550, rs493515, rs644774, rs494620, rs2242664, rs774865421, rs537674853, rs1135402753	RCV001329415 RCV001810117 RCV001810136 RCV001810160 RCV001810174 RCV001810206 RCV001810254 RCV001810289 RCV005397447 RCV005392687 RCV000496999
Lung cancer	Uncertain significance	rs532108778	RCV005931302
Lymphoma	Benign	rs11966200	RCV005917194
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs11966200, rs201671902	RCV005917192 RCV005922909
Ovarian serous cystadenocarcinoma	Likely benign	rs200597664	RCV005926378
SLC44A4-related disorder	Benign; Likely benign; Uncertain significance	rs371104809, rs142048266, rs146715106, rs150135669, rs146294980, rs375793445, rs756922343, rs2481519201, rs768036660, rs139832355, rs758136134, rs749133621, rs574882585	RCV003923713 RCV003951004 RCV003954043 RCV004756489 RCV003916598 RCV004756431 RCV003961341 RCV003400324 RCV004756523 RCV003904466 RCV003901594 RCV003951893 RCV003914590

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abortion Habitual	Stimulate	37685876
Alzheimer Disease	Associate	37925455
Carcinoma Renal Cell	Associate	32461965, 38268058
Colitis Ulcerative	Associate	27759029
Lung Neoplasms	Associate	23651124
Macular Degeneration	Associate	25629512
Mucolipidoses	Associate	12067718

SLC44A4 (solute carrier family 44 member 4)