Seroatlas · Human Serome Atlas

SLC44A4

Choline transporter-like protein 4

Also known as: C6orf29, CTL4, CTL4_HUMAN, DFNA72, FLJ14491, NG22, TPPT

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q53GD3
Gene: SLC44A4
Ensembl: ENSG00000204385
Chromosome: 6
Canonical length: 710 aa
Protein class: Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters

OverviewNCBI Gene

The protein encoded by this gene may be a sodium-dependent transmembrane transport protein involved in the uptake of choline by cholinergic neurons. Defects in this gene can cause sialidosis, a lysosomal storage disease. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

Canonical amino-acid sequenceUniProt

710 residues, UniProt reviewed canonical sequence.

>Q53GD3|SLC44A4
     1  MGGKQRDEDD EAYGKPVKYD PSFRGPIKNR SCTDVICCVL FLLFILGYIV VGIVAWLYGD
    61  PRQVLYPRNS TGAYCGMGEN KDKPYLLYFN IFSCILSSNI ISVAENGLQC PTPQVCVSSC
   121  PEDPWTVGKN EFSQTVGEVF YTKNRNFCLP GVPWNMTVIT SLQQELCPSF LLPSAPALGR
   181  CFPWTNVTPP ALPGITNDTT IQQGISGLID SLNARDISVK IFEDFAQSWY WILVALGVAL
   241  VLSLLFILLL RLVAGPLVLV LILGVLGVLA YGIYYCWEEY RVLRDKGASI SQLGFTTNLS
   301  AYQSVQETWL AALIVLAVLE AILLLMLIFL RQRIRIAIAL LKEASKAVGQ MMSTMFYPLV
   361  TFVLLLICIA YWAMTALYLA TSGQPQYVLW ASNISSPGCE KVPINTSCNP TAHLVNSSCP
   421  GLMCVFQGYS SKGLIQRSVF NLQIYGVLGL FWTLNWVLAL GQCVLAGAFA SFYWAFHKPQ
   481  DIPTFPLISA FIRTLRYHTG SLAFGALILT LVQIARVILE YIDHKLRGVQ NPVARCIMCC
   541  FKCCLWCLEK FIKFLNRNAY IMIAIYGKNF CVSAKNAFML LMRNIVRVVV LDKVTDLLLF
   601  FGKLLVVGGV GVLSFFFFSG RIPGLGKDFK SPHLNYYWLP IMTSILGAYV IASGFFSVFG
   661  MCVDTLFLCF LEDLERNNGS LDRPYYMSKS LLKILGKKNE APPDNKKRKK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC44A4 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 10
Mean surface accessibility (rSASA): 0.3
Highest tissue expression: 124 nTPM

Expression across tissuesHPA

Tissue

colon: 124 nTPM
duodenum: 99 nTPM
small intestine: 83 nTPM
prostate: 81 nTPM
stomach: 79 nTPM
fallopian tube: 50 nTPM

Single-cell type

papillary tip epithelial cells: 53 nCPM
renal collecting duct principal cells: 53 nCPM
fallopian tube ciliated cells: 39 nCPM
prostatic glandular cells: 36 nCPM
respiratory ciliated cells: 31 nCPM
prostatic club cells: 29 nCPM

Immune cell

plasmacytoid DC: 0.4 nTPM
neutrophil: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM

Brain region

medulla oblongata: 0.8 nTPM
midbrain: 0.4 nTPM
cerebellum: 0.2 nTPM
choroid plexus: 0.2 nTPM
amygdala: 0.1 nTPM
cerebral cortex: 0.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC44A4.

Disease | AllUniProt

Conditions SLC44A4 is implicated in, by any mechanism.

Deafness, autosomal dominant, 72 (DFNA72) MIM:617606

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.91
gnomAD pLI: 0
gnomAD missense Z: 1.11
DepMap mean gene effect: -0.11
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

acetylcholine biosynthetic process
choline transport
otolith formation
phosphatidylcholine biosynthetic process
positive regulation of cell growth
thiamine pyrophosphate transmembrane transport
transmembrane transport
acetylcholine secretion
neuromast hair cell development

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SLC44A4 as an antibody target. Whether an autoantibody or antibody against SLC44A4 could matter depends on whether native SLC44A4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC44A4 is annotated at the cell surface, where native SLC44A4 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label SLC44A4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...