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2.A.1.19.2
The ergothionine/carnitine/hydroxyurea/organic zwitterion transporter, OCTN1 or SVOP (SLC22A4). It is upregulated in polycythemia vera hematopoietic stem and progenitor cells (Tan and Meier-Abt 2021). It is associated with rheumatoid arthritis (Barton et al., 2005).  Acetylcholine is a physiological substrate, and its transport could be involved in nonneuronal cholinergic functions (Pochini et al. 2013).  OCTN1 and OCTN2 are associated with several pathologies, such as inflammatory bowel disease, primary carnitine deficiency, diabetes, neurological disorders, and cancer. It transports TEA, and transoirts acetylcholine better than acetylcarnitine (Pochini et al. 2015).

Accession Number:O14546
Protein Name:hSLC22A4 aka hOCTN1
Length:551
Molecular Weight:62155.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:12
Location1 / Topology2 / Orientation3: Membrane1 / Multi-pass membrane protein2
Substrate acetylcholine, hydroxyurea, carnitinium, ergothioneine, triethylammonium ion

Cross database links:

Entrez Gene ID: 6583   
Pfam: PF00083   
KEGG: hsa:6583   

Gene Ontology

GO:0016324 C:apical plasma membrane
GO:0005887 C:integral to plasma membrane
GO:0005739 C:mitochondrion
GO:0005524 F:ATP binding
GO:0015226 F:carnitine transporter activity
GO:0015491 F:cation:cation antiporter activity
GO:0030165 F:PDZ domain binding
GO:0008513 F:secondary active organic cation transmembrane transporter activity
GO:0015293 F:symporter activity
GO:0007589 P:body fluid secretion
GO:0006814 P:sodium ion transport

References (9)

[1] “Cloning and characterization of a novel human pH-dependent organic cation transporter, OCTN1.”  Tamai I.et.al.   9426230
[2] “Discovery of the ergothioneine transporter.”  Gruendemann D.et.al.   15795384
[3] “The DNA sequence and comparative analysis of human chromosome 5.”  Schmutz J.et.al.   15372022
[4] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[5] “Novel membrane transporter OCTN1 mediates multispecific, bidirectional, and pH-dependent transport of organic cations.”  Yabuuchi H.et.al.   10215651
[6] “An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis.”  Tokuhiro S.et.al.   14608356
[7] “Catalog of 238 variations among six human genes encoding solute carriers (hSLCs) in the Japanese population.”  Saito S.et.al.   12436193
[8] “Functional characterization of human organic cation transporter OCTN1 single nucleotide polymorphisms in the Japanese population.”  Kawasaki Y.et.al.   15459889
[9] “Functional variants of OCTN cation transporter genes are associated with Crohn disease.”  Peltekova V.D.et.al.   15107849

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Predict TMSs (Predict number of transmembrane segments)
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FASTA formatted sequence 
1:	MRDYDEVIAF LGEWGPFQRL IFFLLSASII PNGFNGMSVV FLAGTPEHRC RVPDAANLSS 
61:	AWRNNSVPLR LRDGREVPHS CSRYRLATIA NFSALGLEPG RDVDLGQLEQ ESCLDGWEFS 
121:	QDVYLSTVVT EWNLVCEDNW KVPLTTSLFF VGVLLGSFVS GQLSDRFGRK NVLFATMAVQ 
181:	TGFSFLQIFS ISWEMFTVLF VIVGMGQISN YVVAFILGTE ILGKSVRIIF STLGVCTFFA 
241:	VGYMLLPLFA YFIRDWRMLL LALTVPGVLC VPLWWFIPES PRWLISQRRF REAEDIIQKA 
301:	AKMNNIAVPA VIFDSVEELN PLKQQKAFIL DLFRTRNIAI MTIMSLLLWM LTSVGYFALS 
361:	LDAPNLHGDA YLNCFLSALI EIPAYITAWL LLRTLPRRYI IAAVLFWGGG VLLFIQLVPV 
421:	DYYFLSIGLV MLGKFGITSA FSMLYVFTAE LYPTLVRNMA VGVTSTASRV GSIIAPYFVY 
481:	LGAYNRMLPY IVMGSLTVLI GILTLFFPES LGMTLPETLE QMQKVKWFRS GKKTRDSMET 
541:	EENPKVLITA F