Gene Gene information from NCBI Gene database.
Entrez ID 23446
Gene name Solute carrier family 44 member 1
Gene symbol SLC44A1
Synonyms (NCBI Gene)
CD92CDW92CHTL1CONATOCCTL1
Chromosome 9
Chromosome location 9q31.1-q31.2
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1588833694 C>T Likely-pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
830
miRTarBase ID miRNA Experiments Reference
MIRT003770 hsa-miR-1-3p Microarray 15685193
MIRT020227 hsa-miR-130b-3p Sequencing 20371350
MIRT022442 hsa-miR-124-3p Microarray 18668037
MIRT023254 hsa-miR-122-5p Microarray 17612493
MIRT003770 hsa-miR-1-3p Proteomics 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
GO ID Ontology Definition Evidence Reference
GO:0005654 Component Nucleoplasm IDA
GO:0005739 Component Mitochondrion IDA 26746385
GO:0005739 Component Mitochondrion IEA
GO:0005741 Component Mitochondrial outer membrane IDA 19357133
GO:0005741 Component Mitochondrial outer membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606105 18798 ENSG00000070214
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WWI5
Protein name Choline transporter-like protein 1 (CDw92) (Solute carrier family 44 member 1) (CD antigen CD92)
Protein function Choline/H+ antiporter (PubMed:19357133, PubMed:23651124, PubMed:31855247, PubMed:33789160). Also acts as a high-affinity ethanolamine/H+ antiporter, regulating the supply of extracellular ethanolamine (Etn) for the CDP-Etn pathway, redistribute
PDB 7WWB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04515 Choline_transpo 294 606 Plasma-membrane choline transporter Family
Tissue specificity TISSUE SPECIFICITY: Expressed in various cells of the hematopoietic system. {ECO:0000269|PubMed:11698453}.
Sequence
MGCCSSASSAAQSSKREWKPLEDRSCTDIPWLLLFILFCIGMGFICGFSIATGAAARLVS
GYDSYGNICGQKNTKLEAIPNSGMDHTQRKYVFFLDPCNLDLINRKIKSVALCVAACPRQ
ELKTLSDVQKFAEINGSALCSYNLKPSEYTTSPKSSVLCPKLPVPASAPIPFFHRCAPVN
ISCYAKFAEALITFVSDNSVLHRLISGVMTSKEIILGLCLLSLVLSMILMVIIRYISRVL
VWILTILVILGSLGGTGVLWWLYAKQRRSPKETVTPEQLQIAEDNLRALLIYAISATVFT
VILFLIMLVMRKRVALTIALFHVAGKVFIHLPLLVFQPFWTFFALVLFWVYWIMTLLFLG
TTGSPVQNEQGFVEFKISGPLQYMWWYHVVGLIWISEFILACQQMTVAGAVVTYYFTRDK
RNLPFTPILASVNRLIRYHLGTVAKGSFIITLVKIPRMILMYIHSQLKGKENACARCVLK
SCICCLWCLEKCLNYLNQNAYTATAINSTNFCTSAKDAFVILVENALRVATINTVGDFML
FLGKVLIVCSTGLAGIMLLNYQQDYTVWVLPLIIVCLFAFLVAHCFLSIYEMVVDVLFLC
FAIDTK
YNDGSPGREFYMDKVLMEFVENSRKAMKEAGKGGVADSRELKPMASGASSA
Sequence length 657
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Choline metabolism in cancer   Synthesis of PC
Transport of bile salts and organic acids, metal ions and amine compounds
Choline catabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline Pathogenic rs2538237773, rs1828218629, rs1826893287 RCV002283939
RCV001090059
RCV001090060
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder Likely pathogenic rs1588833694 RCV000991395
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DRY EYE SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERALDOSTERONISM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Adenocarcinoma of Lung Associate 17805461
★☆☆☆☆
Found in Text Mining only
Asthma Associate 31122150
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 36046013
★☆☆☆☆
Found in Text Mining only
Carcinoma Papillary Associate 22725730, 26671581, 29679497
★☆☆☆☆
Found in Text Mining only
Choline Deficiency Associate 33876196, 38176775
★☆☆☆☆
Found in Text Mining only
Fetal Alcohol Spectrum Disorders Associate 33876196
★☆☆☆☆
Found in Text Mining only
Head and Neck Neoplasms Associate 34550272
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Associate 23948665
★☆☆☆☆
Found in Text Mining only
Muscular Atrophy Associate 24671709
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 17805461
★☆☆☆☆
Found in Text Mining only