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UniProtKB - Q53GD3 (CTL4_HUMAN)

Entry version 141 (02 Dec 2020)
Sequence version 2 (02 Nov 2010)
Previous versions | rss
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Protein

Choline transporter-like protein 4

Gene

SLC44A4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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 of hair cells from acoustic injury (By similarity) (PubMed:23651124, PubMed:28013291). Also described as a thiamine pyrophosphate transporter in colon, may mediate the absorption of microbiota-generated thiamine pyrophosphate and contribute to host thiamine (vitamin B1) homeostasis (PubMed:24379411).By similarity3 Publications
Has also thiamine pyrophosphate transporter activity.1 Publication

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=0.17 µM for thiamine pyrophosphate1 Publication
  1. Vmax=18.19 pmol/min/mg enzyme1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q53GD3

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1483191, Synthesis of PC
R-HSA-425366, Transport of bile salts and organic acids, metal ions and amine compounds

Protein family/group databases

Transport Classification Database

More...TCDBi		2.A.92.1.7, the choline transporter-like (ctl) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Choline transporter-like protein 41 Publication
Alternative name(s):
Solute carrier family 44 member 4Imported
Thiamine pyrophosphate transporter 11 Publication
Short name:
hTPPT11 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SLC44A4Imported
Synonyms:C6orf29, CTL41 Publication, NG22, TPPT11 Publication
ORF Names:UNQ441/PRO874
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000204385.10

Human Gene Nomenclature Database

More...HGNCi		HGNC:13941, SLC44A4

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		606107, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q53GD3

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 34CytoplasmicSequence analysisAdd BLAST34
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei35 – 55HelicalSequence analysisAdd BLAST21
Topological domaini56 – 229ExtracellularSequence analysisAdd BLAST174
Transmembranei230 – 250HelicalSequence analysisAdd BLAST21
Topological domaini251 – 252CytoplasmicSequence analysis2
Transmembranei253 – 273HelicalSequence analysisAdd BLAST21
Topological domaini274 – 309ExtracellularSequence analysisAdd BLAST36
Transmembranei310 – 330HelicalSequence analysisAdd BLAST21
Topological domaini331 – 358CytoplasmicSequence analysisAdd BLAST28
Transmembranei359 – 379HelicalSequence analysisAdd BLAST21
Topological domaini380 – 455ExtracellularSequence analysisAdd BLAST76
Transmembranei456 – 476HelicalSequence analysisAdd BLAST21
Topological domaini477 – 501CytoplasmicSequence analysisAdd BLAST25
Transmembranei502 – 522HelicalSequence analysisAdd BLAST21
Topological domaini523 – 560ExtracellularSequence analysisAdd BLAST38
Transmembranei561 – 581HelicalSequence analysisAdd BLAST21
Topological domaini582 – 597CytoplasmicSequence analysisAdd BLAST16
Transmembranei598 – 618HelicalSequence analysisAdd BLAST21
Topological domaini619 – 638ExtracellularSequence analysisAdd BLAST20
Transmembranei639 – 659HelicalSequence analysisAdd BLAST21
Topological domaini660 – 710CytoplasmicSequence analysisAdd BLAST51

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

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.
Deafness, autosomal dominant, 72 (DFNA72)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA72 primarily affects the middle frequencies. It gradually progresses to whole-frequency hearing loss.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_078848156M → V in DFNA72; decreases choline transmembrane transporter activity. 1 PublicationCorresponds to variant dbSNP:rs1135402753EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi29N → D: No effect on glycosylation. 1 Publication1
Mutagenesisi69N → D: Decreases glycosylation levels. Decreases thiamine pyrophosphate uptake. 1 Publication1
Mutagenesisi155N → D: Decreases glycosylation levels. Decreases thiamine pyrophosphate uptake. 1 Publication1
Mutagenesisi197N → D: Decreases glycosylation levels. No effect on thiamine pyrophosphate uptake. 1 Publication1
Mutagenesisi298N → D: No effect on glycosylation. 1 Publication1
Mutagenesisi393N → D: Decreases glycosylation levels. Decreases thiamine pyrophosphate uptake. 1 Publication1
Mutagenesisi409N → D: No effect on glycosylation. 1 Publication1
Mutagenesisi416N → D: Decreases glycosylation levels. No effect on thiamine pyrophosphate uptake. 1 Publication1

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei308Breakpoint for translocation with NEU11

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNET

More...DisGeNETi		80736

MalaCards human disease database

More...MalaCardsi		SLC44A4
MIMi617606, phenotype

Open Targets

More...OpenTargetsi		ENSG00000204385

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		90635, Autosomal dominant non-syndromic sensorineural deafness type DFNA

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA25930

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q53GD3, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL3713014

Drug and drug target database

More...DrugBanki		DB00122, Choline
DB14006, Choline salicylate

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SLC44A4

Domain mapping of disease mutations (DMDM)

More...DMDMi		311033368

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001917231 – 710Choline transporter-like protein 4Add BLAST710

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi69N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi155N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi197N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi298N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi393N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi405N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi416N-linked (GlcNAc...) asparagine1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N-glycosylated; N-glycosylation of Asn-69, Asn-155 and Asn-393 is required for a proper thiamine pyrophosphate uptake.1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q53GD3

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q53GD3

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q53GD3

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q53GD3

PeptideAtlas

More...PeptideAtlasi		Q53GD3

PRoteomics IDEntifications database

More...PRIDEi		Q53GD3

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		19913
5163
5359
62477 [Q53GD3-1]
62478 [Q53GD3-2]

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		1112, 3 N-Linked glycans (1 site)

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q53GD3, 7 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q53GD3

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q53GD3

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000204385, Expressed in mucosa of transverse colon and 149 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q53GD3, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q53GD3, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000204385, Tissue enhanced (gallbladder, intestine)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

Protein interaction database and analysis system

More...IntActi		Q53GD3, 2 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000229729

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q53GD3, protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the CTL (choline transporter-like) family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1362, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000160576

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_017181_3_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q53GD3

Identification of Orthologs from Complete Genome Data

More...OMAi		FASAWPW

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q53GD3

TreeFam database of animal gene trees

More...TreeFami		TF313325

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR007603, Choline_transptr-like

The PANTHER Classification System

More...PANTHERi		PTHR12385, PTHR12385, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF04515, Choline_transpo, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q53GD3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGGKQRDEDD EAYGKPVKYD PSFRGPIKNR SCTDVICCVL FLLFILGYIV 
        60         70         80         90        100
VGIVAWLYGD PRQVLYPRNS TGAYCGMGEN KDKPYLLYFN IFSCILSSNI 
       110        120        130        140        150
ISVAENGLQC PTPQVCVSSC PEDPWTVGKN EFSQTVGEVF YTKNRNFCLP 
       160        170        180        190        200
GVPWNMTVIT SLQQELCPSF LLPSAPALGR CFPWTNVTPP ALPGITNDTT 
       210        220        230        240        250
IQQGISGLID SLNARDISVK IFEDFAQSWY WILVALGVAL VLSLLFILLL 
       260        270        280        290        300
RLVAGPLVLV LILGVLGVLA YGIYYCWEEY RVLRDKGASI SQLGFTTNLS 
       310        320        330        340        350
AYQSVQETWL AALIVLAVLE AILLLMLIFL RQRIRIAIAL LKEASKAVGQ 
       360        370        380        390        400
MMSTMFYPLV TFVLLLICIA YWAMTALYLA TSGQPQYVLW ASNISSPGCE 
       410        420        430        440        450
KVPINTSCNP TAHLVNSSCP GLMCVFQGYS SKGLIQRSVF NLQIYGVLGL 
       460        470        480        490        500
FWTLNWVLAL GQCVLAGAFA SFYWAFHKPQ DIPTFPLISA FIRTLRYHTG 
       510        520        530        540        550
SLAFGALILT LVQIARVILE YIDHKLRGVQ NPVARCIMCC FKCCLWCLEK 
       560        570        580        590        600
FIKFLNRNAY IMIAIYGKNF CVSAKNAFML LMRNIVRVVV LDKVTDLLLF 
       610        620        630        640        650
FGKLLVVGGV GVLSFFFFSG RIPGLGKDFK SPHLNYYWLP IMTSILGAYV 
       660        670        680        690        700
IASGFFSVFG MCVDTLFLCF LEDLERNNGS LDRPYYMSKS LLKILGKKNE 
       710
APPDNKKRKK
Length:710
Mass (Da):79,254
Last modified:November 2, 2010 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i4DE5B45574C408AD
GO
Isoform 2 (identifier: Q53GD3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-422: Missing.

Show »
Length:288
Mass (Da):32,729
Checksum:i6A1ACC9313FB9A3F
GO
Isoform 3 (identifier: Q53GD3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-76: Missing.

Show »
Length:634
Mass (Da):70,762
Checksum:iABBB965DD14DB114
GO
Isoform 4 (identifier: Q53GD3-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     115-156: Missing.

Show »
Length:668
Mass (Da):74,504
Checksum:iBC10838F8AC3C6DE
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y5I3H0Y5I3_HUMAN
Choline transporter-like protein 4
SLC44A4
411Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0G2JL76A0A0G2JL76_HUMAN
Choline transporter-like protein 4
SLC44A4
634Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0G2JIN1A0A0G2JIN1_HUMAN
Choline transporter-like protein 4
SLC44A4
411Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti117 – 118Missing in CAH56275 (PubMed:17974005).Curated2
Sequence conflicti144 – 145NR → SS in BAB55083 (PubMed:14702039).Curated2
Sequence conflicti379 – 386LATSGQPQ → PLPTQPATLG in AAD21813 (PubMed:14656967).Curated8
Sequence conflicti379 – 386LATSGQPQ → PLPTQPATLG in BAB63296 (Ref. 5) Curated8
Sequence conflicti636Missing in AAH14659 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0234066R → L Polymorphism; no effect on thiamine pyrophosphate transporter activity. 1 PublicationCorresponds to variant dbSNP:rs2075798Ensembl.1
Natural variantiVAR_047020123D → V Polymorphism; no effect on thiamine pyrophosphate transporter activity. 1 PublicationCorresponds to variant dbSNP:rs12661281Ensembl.1
Natural variantiVAR_047021128G → E1 PublicationCorresponds to variant dbSNP:rs17856465Ensembl.1
Natural variantiVAR_078848156M → V in DFNA72; decreases choline transmembrane transporter activity. 1 PublicationCorresponds to variant dbSNP:rs1135402753EnsemblClinVar.1
Natural variantiVAR_023407187V → I9 PublicationsCorresponds to variant dbSNP:rs2242665Ensembl.1
Natural variantiVAR_023408326M → V8 PublicationsCorresponds to variant dbSNP:rs644827Ensembl.1
Natural variantiVAR_036210347A → T in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_078849397P → S Polymorphism; no effect on thiamine pyrophosphate transporter activity. 1 PublicationCorresponds to variant dbSNP:rs116706632Ensembl.1
Natural variantiVAR_036211411T → M in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs563426936Ensembl.1
Natural variantiVAR_023409493R → C. Corresponds to variant dbSNP:rs6915800Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0309981 – 422Missing in isoform 2. 1 PublicationAdd BLAST422
Alternative sequenceiVSP_0462361 – 76Missing in isoform 3. 1 PublicationAdd BLAST76
Alternative sequenceiVSP_046821115 – 156Missing in isoform 4. 1 PublicationAdd BLAST42

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AK027397 mRNA Translation: BAB55083.1
AK300550 mRNA Translation: BAG62256.1
AK301596 mRNA Translation: BAG63084.1
AY358457 mRNA Translation: AAQ88822.1
AK222998 mRNA Translation: BAD96718.1
AF134726 Genomic DNA Translation: AAD21813.1
BA000025 Genomic DNA Translation: BAB63296.1
AL662834 Genomic DNA No translation available.
AL671762 Genomic DNA No translation available.
AL844853 Genomic DNA No translation available.
BX005460 Genomic DNA No translation available.
CR388202 Genomic DNA No translation available.
CR759784 Genomic DNA No translation available.
CR936237 Genomic DNA No translation available.
CH471081 Genomic DNA Translation: EAX03538.1
BC014659 mRNA Translation: AAH14659.1
AF466766 mRNA Translation: AAL75992.1
AL833009 mRNA Translation: CAH56275.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS4724.2 [Q53GD3-1]
CCDS54989.1 [Q53GD3-3]
CCDS54990.1 [Q53GD3-4]

NCBI Reference Sequences

More...RefSeqi		NP_001171515.1, NM_001178044.1 [Q53GD3-4]
NP_001171516.1, NM_001178045.1 [Q53GD3-3]
NP_079533.2, NM_025257.2 [Q53GD3-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000229729; ENSP00000229729; ENSG00000204385 [Q53GD3-1]
ENST00000375562; ENSP00000364712; ENSG00000204385 [Q53GD3-4]
ENST00000383379; ENSP00000372870; ENSG00000206378 [Q53GD3-1]
ENST00000415517; ENSP00000414120; ENSG00000229077
ENST00000417894; ENSP00000389244; ENSG00000235336
ENST00000425238; ENSP00000399161; ENSG00000228263 [Q53GD3-1]
ENST00000442152; ENSP00000398852; ENSG00000232180
ENST00000453831; ENSP00000393939; ENSG00000231479 [Q53GD3-1]
ENST00000544672; ENSP00000444109; ENSG00000204385 [Q53GD3-3]
ENST00000546461; ENSP00000449039; ENSG00000231479 [Q53GD3-3]
ENST00000547493; ENSP00000449232; ENSG00000229077
ENST00000547684; ENSP00000449180; ENSG00000206378 [Q53GD3-3]
ENST00000548188; ENSP00000447560; ENSG00000228263 [Q53GD3-3]
ENST00000549663; ENSP00000449642; ENSG00000228263 [Q53GD3-4]
ENST00000549677; ENSP00000449518; ENSG00000206378 [Q53GD3-4]
ENST00000550401; ENSP00000448474; ENSG00000235336
ENST00000551168; ENSP00000448088; ENSG00000231479 [Q53GD3-4]
ENST00000553121; ENSP00000447704; ENSG00000232180
ENST00000644409; ENSP00000496109; ENSG00000204385 [Q53GD3-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		80736

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:80736

UCSC genome browser

More...UCSCi		uc010jti.4, human [Q53GD3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK027397 mRNA Translation: BAB55083.1
AK300550 mRNA Translation: BAG62256.1
AK301596 mRNA Translation: BAG63084.1
AY358457 mRNA Translation: AAQ88822.1
AK222998 mRNA Translation: BAD96718.1
AF134726 Genomic DNA Translation: AAD21813.1
BA000025 Genomic DNA Translation: BAB63296.1
AL662834 Genomic DNA No translation available.
AL671762 Genomic DNA No translation available.
AL844853 Genomic DNA No translation available.
BX005460 Genomic DNA No translation available.
CR388202 Genomic DNA No translation available.
CR759784 Genomic DNA No translation available.
CR936237 Genomic DNA No translation available.
CH471081 Genomic DNA Translation: EAX03538.1
BC014659 mRNA Translation: AAH14659.1
AF466766 mRNA Translation: AAL75992.1
AL833009 mRNA Translation: CAH56275.1
CCDSiCCDS4724.2 [Q53GD3-1]
CCDS54989.1 [Q53GD3-3]
CCDS54990.1 [Q53GD3-4]
RefSeqiNP_001171515.1, NM_001178044.1 [Q53GD3-4]
NP_001171516.1, NM_001178045.1 [Q53GD3-3]
NP_079533.2, NM_025257.2 [Q53GD3-1]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

IntActiQ53GD3, 2 interactors
STRINGi9606.ENSP00000229729

Chemistry databases

ChEMBLiCHEMBL3713014
DrugBankiDB00122, Choline
DB14006, Choline salicylate

Protein family/group databases

TCDBi2.A.92.1.7, the choline transporter-like (ctl) family

PTM databases

GlyConnecti1112, 3 N-Linked glycans (1 site)
GlyGeniQ53GD3, 7 sites
iPTMnetiQ53GD3
PhosphoSitePlusiQ53GD3

Polymorphism and mutation databases

BioMutaiSLC44A4
DMDMi311033368

Proteomic databases

jPOSTiQ53GD3
MassIVEiQ53GD3
MaxQBiQ53GD3
PaxDbiQ53GD3
PeptideAtlasiQ53GD3
PRIDEiQ53GD3
ProteomicsDBi19913
5163
5359
62477 [Q53GD3-1]
62478 [Q53GD3-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		71079, 54 antibodies

Genome annotation databases

EnsembliENST00000229729; ENSP00000229729; ENSG00000204385 [Q53GD3-1]
ENST00000375562; ENSP00000364712; ENSG00000204385 [Q53GD3-4]
ENST00000383379; ENSP00000372870; ENSG00000206378 [Q53GD3-1]
ENST00000415517; ENSP00000414120; ENSG00000229077
ENST00000417894; ENSP00000389244; ENSG00000235336
ENST00000425238; ENSP00000399161; ENSG00000228263 [Q53GD3-1]
ENST00000442152; ENSP00000398852; ENSG00000232180
ENST00000453831; ENSP00000393939; ENSG00000231479 [Q53GD3-1]
ENST00000544672; ENSP00000444109; ENSG00000204385 [Q53GD3-3]
ENST00000546461; ENSP00000449039; ENSG00000231479 [Q53GD3-3]
ENST00000547493; ENSP00000449232; ENSG00000229077
ENST00000547684; ENSP00000449180; ENSG00000206378 [Q53GD3-3]
ENST00000548188; ENSP00000447560; ENSG00000228263 [Q53GD3-3]
ENST00000549663; ENSP00000449642; ENSG00000228263 [Q53GD3-4]
ENST00000549677; ENSP00000449518; ENSG00000206378 [Q53GD3-4]
ENST00000550401; ENSP00000448474; ENSG00000235336
ENST00000551168; ENSP00000448088; ENSG00000231479 [Q53GD3-4]
ENST00000553121; ENSP00000447704; ENSG00000232180
ENST00000644409; ENSP00000496109; ENSG00000204385 [Q53GD3-3]
GeneIDi80736
KEGGihsa:80736
UCSCiuc010jti.4, human [Q53GD3-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		80736
DisGeNETi80736
EuPathDBiHostDB:ENSG00000204385.10

GeneCards: human genes, protein and diseases

More...GeneCardsi		SLC44A4
HGNCiHGNC:13941, SLC44A4
HPAiENSG00000204385, Tissue enhanced (gallbladder, intestine)
MalaCardsiSLC44A4
MIMi606107, gene
617606, phenotype
neXtProtiNX_Q53GD3
OpenTargetsiENSG00000204385
Orphaneti90635, Autosomal dominant non-syndromic sensorineural deafness type DFNA
PharmGKBiPA25930

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1362, Eukaryota
GeneTreeiENSGT00940000160576
HOGENOMiCLU_017181_3_1_1
InParanoidiQ53GD3
OMAiFASAWPW
PhylomeDBiQ53GD3
TreeFamiTF313325

Enzyme and pathway databases

PathwayCommonsiQ53GD3
ReactomeiR-HSA-1483191, Synthesis of PC
R-HSA-425366, Transport of bile salts and organic acids, metal ions and amine compounds

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		80736, 6 hits in 840 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		SLC44A4, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SLC44A4

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		80736
PharosiQ53GD3, Tbio

Protein Ontology

More...PROi		PR:Q53GD3
RNActiQ53GD3, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000204385, Expressed in mucosa of transverse colon and 149 other tissues
ExpressionAtlasiQ53GD3, baseline and differential
GenevisibleiQ53GD3, HS

Family and domain databases

InterProiView protein in InterPro
IPR007603, Choline_transptr-like
PANTHERiPTHR12385, PTHR12385, 1 hit
PfamiView protein in Pfam
PF04515, Choline_transpo, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCTL4_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q53GD3
Secondary accession number(s): A2BED3
, B0UXX8, B0UZY8, B4DU94, B4DWM2, E9PEK7, Q5JP84, Q5JQ93, Q658S8, Q6UX89, Q8TEW4, Q96C58, Q96K59, Q9Y332
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: November 2, 2010
Last modified: December 2, 2020
This is version 141 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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