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SLC44A1 solute carrier family 44 member 1 [ Homo sapiens (human) ]

Gene ID: 23446, updated on 13-May-2022

Summary

Official Symbol
SLC44A1provided by HGNC
Official Full Name
solute carrier family 44 member 1provided by HGNC
Primary source
HGNC:HGNC:18798
See related
Ensembl:ENSG00000070214 MIM:606105; AllianceGenome:HGNC:18798
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
CD92; CTL1; CDW92; CHTL1; CONATOC
Summary
Enables choline transmembrane transporter activity. Involved in choline transport and transmembrane transport. Located in several cellular components, including cytosol; mitochondrion; and nucleoplasm. Implicated in high grade glioma. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in colon (RPKM 21.5), thyroid (RPKM 20.3) and 25 other tissues See more
Orthologs
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Genomic context

See SLC44A1 in Genome Data Viewer
Location:
9q31.1-q31.2
Exon count:
19
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (105244651..105438504)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (117419258..117613150)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (108006932..108200785)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene cancer/testis associated transcript 70 Neighboring gene uncharacterized LOC105376197 Neighboring gene RN7SK pseudogene 191 Neighboring gene uncharacterized LOC112268038 Neighboring gene fibronectin type III and SPRY domain containing 1 like Neighboring gene RALGAPA1 pseudogene 1 Neighboring gene FKTN antisense RNA 1 Neighboring gene fukutin

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

Associated conditions

Description Tests
Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
MedGen: C5394335 OMIM: 618868 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Meta-analysis of genome-wide association data identifies two loci influencing age at menarche.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in choline catabolic process TAS
Traceable Author Statement
more info
 
involved_in choline transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in choline transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in choline transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in choline transport TAS
Traceable Author Statement
more info
PubMed 
involved_in phosphatidylcholine biosynthetic process TAS
Traceable Author Statement
more info
 
involved_in transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in transmembrane transport TAS
Traceable Author Statement
more info
 
involved_in transport across blood-brain barrier NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular exosome HDA PubMed 
located_in integral component of membrane TAS
Traceable Author Statement
more info
PubMed 
located_in membrane HDA PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrial outer membrane TAS
Traceable Author Statement
more info
 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
choline transporter-like protein 1
Names
CDW92 antigen
solute carrier family 44 (choline transporter), member 1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001286730.2NP_001273659.1  choline transporter-like protein 1 isoform b

    Status: VALIDATED

    Source sequence(s)
    AJ272365, AL161627, BC049203, DA073110
    Consensus CDS
    CCDS75868.1
    UniProtKB/Swiss-Prot
    Q8WWI5
    Related
    ENSP00000363855.1, ENST00000374723.5
    Conserved Domains (1) summary
    pfam04515
    Location:293604
    Choline_transpo; Plasma-membrane choline transporter
  2. NM_001330731.2NP_001317660.1  choline transporter-like protein 1 isoform c

    Status: VALIDATED

    Source sequence(s)
    AL590368, AU125248, BE502051, BM799970, DA616095, DB297628
    Consensus CDS
    CCDS83390.1
    UniProtKB/Swiss-Prot
    Q8WWI5
    Related
    ENSP00000363856.1, ENST00000374724.1
  3. NM_080546.5NP_536856.2  choline transporter-like protein 1 isoform a

    See identical proteins and their annotated locations for NP_536856.2

    Status: VALIDATED

    Source sequence(s)
    AL161627, BC049203, CF994263
    Consensus CDS
    CCDS6763.1
    UniProtKB/Swiss-Prot
    Q8WWI5
    UniProtKB/TrEMBL
    A0A024R151
    Related
    ENSP00000363852.3, ENST00000374720.8
    Conserved Domains (1) summary
    pfam04515
    Location:293604
    Choline_transpo; Plasma-membrane choline transporter

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    105244651..105438504
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005251855.5XP_005251912.1  choline transporter-like protein 1 isoform X2

    Conserved Domains (1) summary
    pfam04515
    Location:293604
    Choline_transpo; Plasma-membrane choline transporter
  2. XM_006717028.4XP_006717091.1  choline transporter-like protein 1 isoform X3

    Conserved Domains (1) summary
    pfam04515
    Location:311622
    Choline_transpo; Plasma-membrane choline transporter
  3. XM_006717029.4XP_006717092.1  choline transporter-like protein 1 isoform X4

    Conserved Domains (1) summary
    pfam04515
    Location:311622
    Choline_transpo; Plasma-membrane choline transporter
  4. XM_006717027.4XP_006717090.1  choline transporter-like protein 1 isoform X1

    Conserved Domains (1) summary
    pfam04515
    Location:311622
    Choline_transpo; Plasma-membrane choline transporter
  5. XM_047423117.1XP_047279073.1  choline transporter-like protein 1 isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    117419258..117613150
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_022109.2: Suppressed sequence

    Description
    NM_022109.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.