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SLC44A5 solute carrier family 44 member 5 [ Homo sapiens (human) ]

Gene ID: 204962, updated on 1-Jun-2020

Summary

Official Symbol
SLC44A5provided by HGNC
Official Full Name
solute carrier family 44 member 5provided by HGNC
Primary source
HGNC:HGNC:28524
See related
Ensembl:ENSG00000137968
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CTL5
Expression
Broad expression in skin (RPKM 2.6), testis (RPKM 1.3) and 21 other tissues See more
Orthologs

Genomic context

See SLC44A5 in Genome Data Viewer
Location:
1p31.1
Exon count:
32
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (75202129..75724261, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (75667816..76081698, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 8849 Neighboring gene LIM homeobox 8 Neighboring gene RNA, U6 small nuclear 622, pseudogene Neighboring gene G protein nucleolar 3 pseudogene Neighboring gene RNA, U6 small nuclear 503, pseudogene Neighboring gene ribosomal protein L29 pseudogene 5 Neighboring gene diphosphoinositol pentakisphosphate kinase 2 pseudogene Neighboring gene acyl-CoA dehydrogenase medium chain Neighboring gene dihydrolipoamide S-succinyltransferase pseudogene 1 Neighboring gene small nucleolar RNA, C/D box 45C Neighboring gene Rab geranylgeranyltransferase subunit beta

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
NHGRI GWA Catalog
Identification of novel germline polymorphisms governing capecitabine sensitivity.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ34081, MGC34032

Gene Ontology Provided by GOA

Function Evidence Code Pubs
transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
phosphatidylcholine biosynthetic process TAS
Traceable Author Statement
more info
 
transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
choline transporter-like protein 5

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001130058.2NP_001123530.1  choline transporter-like protein 5 isoform B

    See identical proteins and their annotated locations for NP_001123530.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has a distinct 3' coding region and UTR, compared to variant 1, resulting in a protein (isoform B) with a shorter and distinct C-terminus, compared to isoform A.
    Source sequence(s)
    AC118550, AK093170, AK128063, BC051740, DC374918
    Consensus CDS
    CCDS44164.1
    UniProtKB/Swiss-Prot
    Q8NCS7
    Related
    ENSP00000359896.3, ENST00000370859.7
    Conserved Domains (1) summary
    pfam04515
    Location:329686
    Choline_transpo; Plasma-membrane choline transporter
  2. NM_001320283.2NP_001307212.1  choline transporter-like protein 5 isoform C

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region and uses an alternate start codon, compared to variant 1. It encodes isoform C, which is shorter and has a distinct N-terminus, compared to isoform A.
    Source sequence(s)
    AC118550, AK299573, AL096829, BC034580, R53378
    UniProtKB/Swiss-Prot
    Q8NCS7
    UniProtKB/TrEMBL
    B7Z5Y4
    Conserved Domains (1) summary
    pfam04515
    Location:323680
    Choline_transpo; Plasma-membrane choline transporter
  3. NM_001320285.2NP_001307214.1  choline transporter-like protein 5 isoform D precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, uses a downstream in-frame start codon and contains an alternate 3' terminal exon, compared to variant 1. It encodes isoform D, which is shorter and has distinct N- and C-termini, compared to isoform A. Variants 4 and 5 encode the same isoform (D).
    Source sequence(s)
    AC118550, AI922912, AK093170, AK128063, AK299573, BC034580
    UniProtKB/Swiss-Prot
    Q8NCS7
    UniProtKB/TrEMBL
    B7Z5Y4
    Conserved Domains (1) summary
    pfam04515
    Location:287644
    Choline_transpo; Plasma-membrane choline transporter
  4. NM_001320287.2NP_001307216.1  choline transporter-like protein 5 isoform D precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, uses a downstream in-frame start codon and contains an alternate 3' terminal exon, compared to variant 1. It encodes isoform D, which is shorter and has distinct N- and C-termini, compared to isoform A. Variants 4 and 5 encode the same isoform (D).
    Source sequence(s)
    AC118550, AI922912, AK128063, AK299573, BC034580, BG718149
    UniProtKB/Swiss-Prot
    Q8NCS7
    UniProtKB/TrEMBL
    B7Z5Y4
    Conserved Domains (1) summary
    pfam04515
    Location:287644
    Choline_transpo; Plasma-membrane choline transporter
  5. NM_152697.5NP_689910.2  choline transporter-like protein 5 isoform A

    See identical proteins and their annotated locations for NP_689910.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (A).
    Source sequence(s)
    AC118550, BC028743, BC051740, DA534406, DA778954, DB450780, DC374918
    Consensus CDS
    CCDS667.1
    UniProtKB/Swiss-Prot
    Q8NCS7
    UniProtKB/TrEMBL
    A0A0A0MRP1
    Related
    ENSP00000359892.5, ENST00000370855.5
    Conserved Domains (1) summary
    pfam04515
    Location:330686
    Choline_transpo; Plasma-membrane choline transporter

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    75202129..75724261 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017000610.1XP_016856099.1  choline transporter-like protein 5 isoform X3

    UniProtKB/TrEMBL
    A0A0A0MRP1
    Conserved Domains (1) summary
    pfam04515
    Location:330686
    Choline_transpo; Plasma-membrane choline transporter
  2. XM_017000609.1XP_016856098.1  choline transporter-like protein 5 isoform X3

    UniProtKB/TrEMBL
    A0A0A0MRP1
    Conserved Domains (1) summary
    pfam04515
    Location:330686
    Choline_transpo; Plasma-membrane choline transporter
  3. XM_017000607.1XP_016856096.1  choline transporter-like protein 5 isoform X1

  4. XM_017000608.1XP_016856097.1  choline transporter-like protein 5 isoform X2

  5. XM_017000611.1XP_016856100.1  choline transporter-like protein 5 isoform X3

    UniProtKB/TrEMBL
    A0A0A0MRP1
    Conserved Domains (1) summary
    pfam04515
    Location:330686
    Choline_transpo; Plasma-membrane choline transporter
  6. XM_011540987.2XP_011539289.1  choline transporter-like protein 5 isoform X4

    See identical proteins and their annotated locations for XP_011539289.1

    Conserved Domains (1) summary
    pfam04515
    Location:287644
    Choline_transpo; Plasma-membrane choline transporter
  7. XM_006710445.3XP_006710508.1  choline transporter-like protein 5 isoform X4

    See identical proteins and their annotated locations for XP_006710508.1

    Conserved Domains (1) summary
    pfam04515
    Location:287644
    Choline_transpo; Plasma-membrane choline transporter
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