Q53GD3 (CTL4_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
April 3, 2013.
Version 82.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Choline transporter-like protein 4 Alternative name(s): Solute carrier family 44 member 4 | ||||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||||
| Taxonomic identifier | 9606 [NCBI] | ||||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 710 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Subcellular location | Membrane; Multi-pass membrane protein By similarity. |
| Involvement in disease | 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. |
| Sequence similarities | Belongs to the CTL (choline transporter-like) family. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Transmembrane Transmembrane helix |
| PTM | Glycoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | phosphatidylcholine biosynthetic process Traceable author statement. Source: Reactome transmembrane transportTraceable author statement. Source: Reactome |
| Cellular_component | integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW plasma membraneTraceable author statement. Source: Reactome |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q53GD3-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q53GD3-2) The sequence of this isoform differs from the canonical sequence as follows: 1-422: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q53GD3-3) The sequence of this isoform differs from the canonical sequence as follows: 1-76: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 710 | 710 | Choline transporter-like protein 4 | PRO_0000191723 | |||||
Regions | |||||||||
| Topological domain | 1 – 34 | 34 | Cytoplasmic Potential | ||||||
| Transmembrane | 35 – 55 | 21 | Helical; Potential | ||||||
| Topological domain | 56 – 229 | 174 | Extracellular Potential | ||||||
| Transmembrane | 230 – 250 | 21 | Helical; Potential | ||||||
| Topological domain | 251 – 252 | 2 | Cytoplasmic Potential | ||||||
| Transmembrane | 253 – 273 | 21 | Helical; Potential | ||||||
| Topological domain | 274 – 309 | 36 | Extracellular Potential | ||||||
| Transmembrane | 310 – 330 | 21 | Helical; Potential | ||||||
| Topological domain | 331 – 358 | 28 | Cytoplasmic Potential | ||||||
| Transmembrane | 359 – 379 | 21 | Helical; Potential | ||||||
| Topological domain | 380 – 455 | 76 | Extracellular Potential | ||||||
| Transmembrane | 456 – 476 | 21 | Helical; Potential | ||||||
| Topological domain | 477 – 501 | 25 | Cytoplasmic Potential | ||||||
| Transmembrane | 502 – 522 | 21 | Helical; Potential | ||||||
| Topological domain | 523 – 560 | 38 | Extracellular Potential | ||||||
| Transmembrane | 561 – 581 | 21 | Helical; Potential | ||||||
| Topological domain | 582 – 597 | 16 | Cytoplasmic Potential | ||||||
| Transmembrane | 598 – 618 | 21 | Helical; Potential | ||||||
| Topological domain | 619 – 638 | 20 | Extracellular Potential | ||||||
| Transmembrane | 639 – 659 | 21 | Helical; Potential | ||||||
| Topological domain | 660 – 710 | 51 | Cytoplasmic Potential | ||||||
Sites | |||||||||
| Site | 308 | 1 | Breakpoint for translocation with NEU1 | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 69 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 155 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 197 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 298 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 393 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 405 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 416 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 422 | 422 | Missing in isoform 2. | VSP_030998 | |||||
| Alternative sequence | 1 – 76 | 76 | Missing in isoform 3. | VSP_046236 | |||||
| Natural variant | 6 | 1 | R → L. Corresponds to variant rs2075798 [ dbSNP | Ensembl ]. | VAR_023406 | |||||
| Natural variant | 123 | 1 | D → V. Corresponds to variant rs12661281 [ dbSNP | Ensembl ]. | VAR_047020 | |||||
| Natural variant | 128 | 1 | G → E. Ref.8 Corresponds to variant rs17856465 [ dbSNP | Ensembl ]. | VAR_047021 | |||||
| Natural variant | 187 | 1 | V → I. Ref.1 Ref.3 Ref.4 Ref.5 Ref.6 Ref.7 Ref.8 Ref.9 Corresponds to variant rs2242665 [ dbSNP | Ensembl ]. | VAR_023407 | |||||
| Natural variant | 326 | 1 | M → V. Ref.1 Ref.3 Ref.4 Ref.5 Ref.6 Ref.7 Ref.8 Corresponds to variant rs644827 [ dbSNP | Ensembl ]. | VAR_023408 | |||||
| Natural variant | 347 | 1 | A → T in a colorectal cancer sample; somatic mutation. Ref.12 | VAR_036210 | |||||
| Natural variant | 411 | 1 | T → M in a colorectal cancer sample; somatic mutation. Ref.12 | VAR_036211 | |||||
| Natural variant | 493 | 1 | R → C. Corresponds to variant rs6915800 [ dbSNP | Ensembl ]. | VAR_023409 | |||||
Experimental info | |||||||||
| Sequence conflict | 117 – 118 | 2 | Missing in CAH56275. Ref.10 | ||||||
| Sequence conflict | 144 – 145 | 2 | NR → SS in BAB55083. Ref.1 | ||||||
| Sequence conflict | 379 – 386 | 8 | LATSGQPQ → PLPTQPATLG in AAD21813. Ref.4 | ||||||
| Sequence conflict | 379 – 386 | 8 | LATSGQPQ → PLPTQPATLG in BAB63296. Ref.5 | ||||||
| Sequence conflict | 636 | 1 | Missing in AAH14659. Ref.8 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), VARIANTS ILE-187 AND VAL-326. Tissue: Mammary gland and Prostate. |
| [2] | "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. Gray A.M.Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). |
| [3] | Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS ILE-187 AND VAL-326. Tissue: Small intestine. |
| [4] | "Analysis of the gene-dense major histocompatibility complex class III region and its comparison to mouse." Xie T., Rowen L., Aguado B., Ahearn M.E., Madan A., Qin S., Campbell R.D., Hood L. Genome Res. 13:2621-2636(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS ILE-187 AND VAL-326. |
| [5] | "Homo sapiens 2,229,817bp genomic DNA of 6p21.3 HLA class I region." Shiina S., Tamiya G., Oka A., Inoko H. Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS ILE-187 AND VAL-326. |
| [6] | "The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. Beck S.Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS ILE-187 AND VAL-326. |
| [7] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS ILE-187 AND VAL-326. |
| [8] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS GLU-128; ILE-187 AND VAL-326. Tissue: Colon. |
| [9] | "Identification of a CTL4/Neu1 fusion transcript in a sialidosis patient." Uhl J., Penzel R., Sergi C., Kopitz J., Otto H.F., Cantz M. FEBS Lett. 521:19-23(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-308 (ISOFORM 1), CHROMOSOMAL REARRANGEMENT WITH NEU1, VARIANT ILE-187. |
| [10] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 81-710 (ISOFORMS 1/3). Tissue: Stomach. |
| [11] | "An electric lobe suppressor for a yeast choline transport mutation belongs to a new family of transporter-like proteins." O'Regan S., Traiffort E., Ruat M., Cha N., Compaore D., Meunier F.-M. Proc. Natl. Acad. Sci. U.S.A. 97:1835-1840(2000) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION, NOMENCLATURE. |
| [12] | "The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E.Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] THR-347 AND MET-411. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AK027397 mRNA. Translation: BAB55083.1. AK300550 mRNA. Translation: BAG62256.1. 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. Translation: CAI17744.1. AL671762 Genomic DNA. Translation: CAI18223.2. AL844853 Genomic DNA. Translation: CAI41851.1. BX005460 Genomic DNA. Translation: CAM26148.1. CR936237 Genomic DNA. Translation: CAQ09154.1. CR759784 Genomic DNA. Translation: CAQ09306.1. CR388202 Genomic DNA. Translation: CAQ09513.1. CH471081 Genomic DNA. Translation: EAX03538.1. BC014659 mRNA. Translation: AAH14659.1. AF466766 mRNA. Translation: AAL75992.1. AL833009 mRNA. Translation: CAH56275.1. |
| IPI | IPI00893953. IPI01020767. IPI01021535. |
| RefSeq | NP_001171515.1. NM_001178044.1. NP_001171516.1. NM_001178045.1. NP_079533.2. NM_025257.2. |
| UniGene | Hs.335355. |
3D structure databases | |
| ProteinModelPortal | Q53GD3. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q53GD3. |
Polymorphism databases | |
| DMDM | 311033368. |
Proteomic databases | |
| PaxDb | Q53GD3. |
| PRIDE | Q53GD3. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000229729; ENSP00000229729; ENSG00000204385. ENST00000383379; ENSP00000372870; ENSG00000206378. ENST00000415517; ENSP00000414120; ENSG00000229077. ENST00000417894; ENSP00000389244; ENSG00000235336. ENST00000425238; ENSP00000399161; ENSG00000228263. ENST00000442152; ENSP00000398852; ENSG00000232180. ENST00000453831; ENSP00000393939; ENSG00000231479. ENST00000544672; ENSP00000444109; ENSG00000204385. ENST00000546461; ENSP00000449039; ENSG00000231479. ENST00000547684; ENSP00000449180; ENSG00000206378. ENST00000548188; ENSP00000447560; ENSG00000228263. |
| GeneID | 80736. |
| KEGG | hsa:80736. |
| UCSC | uc010jti.3. human. |
Organism-specific databases | |
| CTD | 80736. |
| GeneCards | GC06M031830. |
| H-InvDB | HIX0166072. HIX0166339. HIX0167126. HIX0184154. |
| HGNC | HGNC:13941. SLC44A4. |
| MIM | 606107. gene. |
| neXtProt | NX_Q53GD3. |
| Orphanet | 93400. Congenital sialidosis type 2. 93399. Juvenile sialidosis type 2. 812. Sialidosis type 1. |
| PharmGKB | PA25930. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG310633. |
| HOVERGEN | HBG062155. |
| InParanoid | Q53GD3. |
| KO | K15377. |
| OMA | QLGFTTN. |
| OrthoDB | EOG43JC47. |
Enzyme and pathway databases | |
| Reactome | REACT_111217. Metabolism. REACT_15518. Transmembrane transport of small molecules. REACT_20679. Amine compound SLC transporters. |
Gene expression databases | |
| ArrayExpress | Q53GD3. |
| Bgee | Q53GD3. |
| Genevestigator | Q53GD3. |
| GermOnline | ENSG00000204385. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR007603. Choline_transptr-like. [Graphical view] |
| PANTHER | PTHR12385. PTHR12385. 1 hit. |
| Pfam | PF04515. Choline_transpo. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | SLC44A4. human. |
| DrugBank | DB00122. Choline. |
| GenomeRNAi | 80736. |
| NextBio | 71058. |
| SOURCE | Search... |
Entry information
| Entry name | CTL4_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q53GD3 Secondary accession number(s): A2BED3 Q9Y332 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 6 Human chromosome 6: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
