GIMD1

Summary

GIMD1 (GIMAP family P-loop NTPase domain containing 1, HGNC:44141) is a protein-coding gene on chromosome 4q24, encoding GTPase IMAP family member GIMD1 (P0DJR0).

Predicted to enable GTP binding activity.

Source: NCBI Gene 100507096 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 4 total
• MANE Select transcript: NM_001195138

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:44141
Approved symbol	GIMD1
Name	GIMAP family P-loop NTPase domain containing 1
Location	4q24
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000250298
Ensembl biotype	protein_coding
Entrez	100507096

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000507153, ENST00000638719

RefSeq mRNA: 1 — MANE Select: NM_001195138 NM_001195138

CCDS: CCDS82942

Canonical transcript exons

ENST00000638719 — 3 exons

Exon	Start	End
ENSE00003801351	106357392	106358443
ENSE00003807973	106368710	106368778
ENSE00003811376	106367043	106367437

Expression profiles

Bgee: expression breadth broad, 12 present calls, max score 90.50.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0165 / max 20.4247, expressed in 3 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
53484	0.0113	3
53483	0.0051	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
duodenum	UBERON:0002114	90.50	gold quality
gall bladder	UBERON:0002110	68.27	gold quality
small intestine	UBERON:0002108	46.17	gold quality
small intestine Peyer’s patch	UBERON:0003454	41.65	gold quality
granulocyte	CL:0000094	39.89	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
bone marrow	UBERON:0002371	34.14	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
lymph node	UBERON:0000029	31.76	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
leukocyte	CL:0000738	30.55	gold quality
monocyte	CL:0000576	30.10	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
liver	UBERON:0002107	29.38	gold quality
prefrontal cortex	UBERON:0000451	29.21	gold quality
intestine	UBERON:0000160	28.33	gold quality
muscle of leg	UBERON:0001383	27.43	gold quality
islet of Langerhans	UBERON:0000006	27.41	silver quality
tonsil	UBERON:0002372	27.05	gold quality
superior frontal gyrus	UBERON:0002661	27.01	gold quality
gastrocnemius	UBERON:0001388	26.60	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
kidney	UBERON:0002113	26.32	silver quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.79

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Gimd1	ENSMUSG00000091721
rattus_norvegicus	Gimd1	ENSRNOG00000042721

Paralogs (7): GIMAP2 (ENSG00000106560), GIMAP6 (ENSG00000133561), GIMAP4 (ENSG00000133574), GIMAP8 (ENSG00000171115), GIMAP7 (ENSG00000179144), GIMAP5 (ENSG00000196329), GIMAP1 (ENSG00000213203)

Protein

Protein identifiers

GTPase IMAP family member GIMD1 — P0DJR0 (reviewed: P0DJR0)

Alternative names: GIMAP family P-loop NTPase domain-containing protein 1

All UniProt accessions (1): P0DJR0

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. AIG1/Toc34/Toc159-like paraseptin GTPase family. IAN subfamily.

RefSeq proteins (1): NP_001182067* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006703	G_AIG1	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR045058	GIMA/IAN/Toc	Family

Pfam: PF04548

UniProt features (5 total): binding site 3, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0DJR0-F1	93.55	0.84

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (3): 15–23; 36; 148–150

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 5 (showing top): chr4q24, GOMF_GTPASE_ACTIVITY, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES, GOMF_GUANYL_NUCLEOTIDE_BINDING, GOMF_PURINE_NUCLEOTIDE_BINDING

GO Biological Process (0):

GO Molecular Function (3): GTPase activity (GO:0003924), GTP binding (GO:0005525), nucleotide binding (GO:0000166)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
ribonucleoside triphosphate phosphatase activity	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1

Protein interactions and networks

STRING

94 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GIMD1	NOL10	Q9BSC4	245
GIMD1	PPP1R21	Q6ZMI0	232
GIMD1	MOB1A	Q9H8S9	202
GIMD1	HGSNAT	Q68CP4	198
GIMD1	ZNF467	Q7Z7K2	191
GIMD1	RPN2	P04844	187
GIMD1	FERRY3	Q9NQ89	184
GIMD1	MOB3B	Q86TA1	166
GIMD1	MOB3C	Q70IA8	166
GIMD1	SVIL	O95425	166
GIMD1	MOB3A	Q96BX8	166
GIMD1	MANSC1	Q9H8J5	166
GIMD1	RAB5IF	Q9BUV8	166
GIMD1	CLN3	Q13286	166
GIMD1	OR9Q2	Q8NGE9	166

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A1E2I4, A7VK00, B0BMZ3, E9PW74, F4HT21, G3MZQ6, G3X987, O81025, P09922, P0DJR0, P18588, P18589, P18590, P20591, P27473, P32455, P33237, P54120, P79135, Q28379, Q4ADG6, Q4ADG7, Q4ADG8, Q4KLG2, Q5D1D6, Q5R5G3, Q5RBE1, Q75N62, Q8BV66, Q8K3K9, Q8N8V2, Q8ND71, Q8NHV1, Q8TCB0, Q99JY3, Q9BDB7, Q9C8U2, Q9C8U5, Q9C8U6, Q9C8U7

Diamond homologs: B0BMZ3, E9PW74, G3MZQ6, P0DJR0, P70224, Q9C8V0, Q9C8V2, O81025, A5PKB7, C0HJV2, F4HT21, G3X987, O81865, O81866, P54120, Q4KLG2, Q5FVN6, Q6P9H5, Q75N62, Q8BWF2, Q8K349, Q8K3K9, Q8K3L6, Q8ND71, Q8NHV1, Q8WWP7, Q96F15, Q99JY3, Q99MI6, Q9C5Q9, Q9C8U2, Q9C8U5, Q9C8U6, Q9C8U7, Q9C8U8, Q9C8U9, Q9FHE5, Q9FHE8, Q9NUV9, Q9T0F2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	4
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

1446 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:106367374:T:A	K21I	0.972
4:106367334:A:C	F34L	0.964
4:106367334:A:T	F34L	0.964
4:106367336:A:G	F34L	0.964
4:106367373:T:A	K21N	0.962
4:106367373:T:G	K21N	0.962
4:106367374:T:G	K21T	0.961
4:106367370:A:C	S22R	0.943
4:106367370:A:T	S22R	0.943
4:106367372:T:G	S22R	0.943
4:106358288:G:C	F183L	0.941
4:106358288:G:T	F183L	0.941
4:106358290:A:G	F183L	0.941
4:106358400:A:G	F146S	0.939
4:106367375:T:C	K21E	0.931
4:106367136:G:C	F100L	0.930
4:106367136:G:T	F100L	0.930
4:106367138:A:G	F100L	0.930
4:106358410:C:G	A143P	0.929
4:106367375:T:G	K21Q	0.919
4:106367104:A:T	V111D	0.916
4:106367116:A:G	L107P	0.915
4:106367379:A:C	S19R	0.914
4:106367379:A:T	S19R	0.914
4:106367381:T:G	S19R	0.914
4:106367113:G:T	A108E	0.913
4:106367214:G:C	D74E	0.910
4:106367214:G:T	D74E	0.910
4:106367401:G:T	A12D	0.910
4:106358425:A:G	W138R	0.902

dbSNP variants (sampled 300 via entrez): RS1000029211 (4:106360565 T>C), RS1000161764 (4:106357746 G>A), RS1000318273 (4:106361070 G>A), RS1000332598 (4:106362991 A>C), RS1000661385 (4:106366964 T>C), RS1000725255 (4:106367065 G>A), RS1000774148 (4:106366710 G>C), RS1001272310 (4:106370531 C>G), RS1001492878 (4:106364229 G>A,T), RS1001725023 (4:106370266 C>G,T), RS1002042109 (4:106357151 T>C), RS1002246108 (4:106367572 T>C), RS1002497560 (4:106365463 T>A,C), RS1002640172 (4:106358684 TATG>T), RS1002688495 (4:106367299 C>T)

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)

Clinical trials (associated diseases)

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