SDIM1

Summary

SDIM1 (stress responsive DNAJB4 interacting membrane protein 1, HGNC:38749) is a protein-coding gene on chromosome 6q27, encoding Stress-responsive DNAJB4-interacting membrane protein 1 (Q6ZPB5). Promotes neuronal cells survival to stress conditions.

Enables protein homodimerization activity. Involved in protein folding. Predicted to be located in membrane.

Source: NCBI Gene 100505705 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 1 total — 1 pathogenic

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:38749
Approved symbol	SDIM1
Name	stress responsive DNAJB4 interacting membrane protein 1
Location	6q27
Locus type	gene with protein product
Status	Approved
Entrez	100505705

Gene structure

Transcript identifiers

Ensembl transcripts: 0

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

None — 0 exons

Expression profiles

Top tissues by expression

0 total, by Bgee expression score (0-100, higher = more expressed):

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Stress-responsive DNAJB4-interacting membrane protein 1 — Q6ZPB5 (reviewed: Q6ZPB5)

All UniProt accessions (0):

UniProt curated annotations — full annotation on UniProt →

Function. Promotes neuronal cells survival to stress conditions.

Subunit / interactions. Homodimer. Interacts with DNAJB4.

Subcellular location. Membrane.

Tissue specificity. Expressed in brain with higher detection in neurons than astrocytes. Decreased expression in Alzheimer brains. Detected at protein level in brain and cervix.

Induction. Down-regulated in NT2 neurons subjected to stress conditions which triggers neuronal apoptosis such as oxygen and glucose deprivation, followed by up-regulation in surviving cells.

RefSeq proteins (0): (*=MANE)

Domains & families (InterPro)

UniProt features (9 total): topological domain 3, transmembrane region 2, sequence conflict 2, signal peptide 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZPB5-F1	30.33	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 0 (showing top):

GO Biological Process (1): protein folding (GO:0006457)

GO Molecular Function (1): protein homodimerization activity (GO:0042803)

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular process	1
protein maturation	1
identical protein binding	1
protein dimerization activity	1
cellular anatomical structure	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A023PXH6, A0AAN2H888, B8NYW8, G2TRK5, G2TRQ1, G2TRT8, O13561, O96002, P06927, P08105, P0C5L2, P0C5N8, P0CU21, P11673, P17385, P19283, P19284, P19298, P32616, P32858, P36092, P38320, P39982, P53116, P53151, P53245, P53880, P53926, P87283, P92510, P92556, Q05612, Q06051, Q06158, Q07613, Q08207, Q08498, Q10263, Q12187, Q12243

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

1 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1527323	GRCh37/hg19 6q26-27(chr6:163290087-170919482)	Pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
hydroxyhydroquinone	decreases expression	1
Benzalkonium Compounds	increases expression	1
Rotenone	increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.