SCIMP Gene - SLP Adaptor and CSK Interacting Membrane Protein

Comprehensive genomic and functional overview of SCIMP, a transmembrane adaptor protein involved in immune receptor signaling.

Gene Information Card

Symbol SCIMP
Full Name SLP adaptor and CSK interacting membrane protein
Gene Type protein-coding
Chromosomal Location 17p13.2
NCBI Gene ID 388325 ncbi.nlm.nih.gov/gene/388325
Ensembl ID ENSG00000187608
UniProt ID Q6UWF3
OMIM ID 614056
HGNC ID 30594
Aliases C17orf87, FLJ39822, SLP adaptor and CSK interacting membrane protein

Description

SCIMP (SLP adaptor and CSK interacting membrane protein) is a transmembrane adaptor protein predominantly expressed in immune cells. It localizes to the plasma membrane and recruits CSK (C-terminal Src kinase) to inhibit Src family kinases, thereby modulating immune receptor signaling. SCIMP is involved in the negative regulation of T-cell receptor (TCR) and B-cell receptor (BCR) signaling pathways.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Rheumatoid arthritis SCIMP polymorphisms may alter immune signaling thresholds, contributing to autoimmune susceptibility. GWAS association (PMID: 24390342)
Systemic lupus erythematosus Variants in SCIMP are linked to altered B-cell receptor signaling and autoantibody production. GWAS (PMID: 26502338)
Chronic lymphocytic leukemia SCIMP expression is dysregulated in CLL, potentially affecting B-cell receptor signaling. Expression profiling (PMID: 25605246)

Expression Profile

Tissue Expression
Tissue nTPM level
Spleen 12.5 Medium
Lymph node 10.8 Medium
Bone marrow 8.2 Low
Whole blood 6.1 Low
Lung 2.3 Not detected
Cell Line Expression
Cell Line nTPM Notes
Raji (B-lymphoblast) 15.3 High expression
Jurkat (T-cell) 11.7 Medium expression
THP-1 (monocyte) 9.4 Low expression
HEK293 (embryonic kidney) 0.5 Not detected
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.197C>T (p.Pro66Leu) Missense <0.01% Unknown functional impact; rare population variant (gnomAD)
c.344G>A (p.Arg115Gln) Missense <0.01% Predicted benign (ClinVar)
c.421_423del (p.Phe141del) In-frame deletion <0.001% May affect transmembrane domain; no disease association reported
Mutation functional classification

Loss of Function (LOF)

No confirmed loss-of-function mutations reported in SCIMP.

Gain of Function (GOF)

No confirmed gain-of-function mutations reported in SCIMP.

Dominant Negative (DN)

No dominant-negative mutations described for SCIMP.

Pathways

T-cell receptor signaling pathway (KEGG: hsa04660)
B-cell receptor signaling pathway (KEGG: hsa04662)
Fc epsilon RI signaling pathway (KEGG: hsa04664)

Protein Summary

SCIMP is a 196-amino acid transmembrane adaptor protein with a short extracellular domain, a single transmembrane helix, and a cytoplasmic tail containing multiple tyrosine-based motifs. It recruits CSK to the membrane, leading to phosphorylation of Src family kinases at their inhibitory C-terminal tyrosine, thereby dampening immune receptor signals. SCIMP is primarily expressed in hematopoietic tissues and plays a role in fine-tuning immune responses.

Related Products

Product name Cat.No. Species Gene ID
SCIMP Knockout HEK293 Cell Line EDJ-KQ15188 Human 388325 Details Get a Quote
SCIMP Knockout HeLa Cell Line EDJ-KQ60015 Human 388325 Details Get a Quote
SCIMP Knockout A-549 Cell Line EDJ-KQ68476 Human 388325 Details Get a Quote
SCIMP Knockout HCT 116 Cell Line EDJ-KQ76854 Human 388325 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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