GIMAP1

Summary

GIMAP1 (GTPase, IMAP family member 1, HGNC:23237) is a protein-coding gene on chromosome 7q36.1, encoding GTPase IMAP family member 1 (Q8WWP7). May regulate lymphocyte survival.

This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. This gene is thought to be involved in the differentiation of T helper (Th) cells of the Th1 lineage, and the related mouse gene has been shown to be critical for the development of mature B and T lymphocytes. Read-through transcription exists between this gene and the downstream GIMAP5 (GTPase, IMAP family member 5) gene.

Source: NCBI Gene 170575 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 38 total
• MANE Select transcript: NM_130759

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23237
Approved symbol	GIMAP1
Name	GTPase, IMAP family member 1
Location	7q36.1
Locus type	gene with protein product
Status	Approved
Aliases	HIMAP1, IMAP38, IMAP1, IAN2
Ensembl gene	ENSG00000213203
Ensembl biotype	protein_coding
OMIM	608084
Entrez	170575

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 8 protein_coding, 1 retained_intron

ENST00000307194, ENST00000464461, ENST00000867917, ENST00000867918, ENST00000946342, ENST00000946343, ENST00000946344, ENST00000946345, ENST00000946346

RefSeq mRNA: 1 — MANE Select: NM_130759 NM_130759

CCDS: CCDS5906

Canonical transcript exons

ENST00000307194 — 3 exons

Exon	Start	End
ENSE00001141718	150720048	150724284
ENSE00001141723	150719042	150719090
ENSE00001887386	150716613	150716690

Expression profiles

Bgee: expression breadth ubiquitous, 243 present calls, max score 93.09.

FANTOM5 (CAGE): breadth broad, TPM avg 8.3571 / max 411.7659, expressed in 535 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
81963	8.3571	535

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	93.09	gold quality
leukocyte	CL:0000738	92.79	gold quality
monocyte	CL:0000576	92.70	gold quality
blood	UBERON:0000178	90.12	gold quality
parietal pleura	UBERON:0002400	89.56	gold quality
tendon of biceps brachii	UBERON:0008188	89.44	gold quality
spleen	UBERON:0002106	88.73	gold quality
visceral pleura	UBERON:0002401	88.42	gold quality
lymph node	UBERON:0000029	86.96	gold quality
superficial temporal artery	UBERON:0001614	85.93	gold quality
right lung	UBERON:0002167	85.38	gold quality
lower lobe of lung	UBERON:0008949	84.64	gold quality
pericardium	UBERON:0002407	84.18	gold quality
vermiform appendix	UBERON:0001154	83.99	gold quality
urethra	UBERON:0000057	83.57	gold quality
layer of synovial tissue	UBERON:0007616	83.09	gold quality
buccal mucosa cell	CL:0002336	82.59	gold quality
apex of heart	UBERON:0002098	82.23	gold quality
trabecular bone tissue	UBERON:0002483	82.21	gold quality
caecum	UBERON:0001153	81.92	gold quality
jejunal mucosa	UBERON:0000399	81.50	gold quality
adipose tissue	UBERON:0001013	81.45	gold quality
subcutaneous adipose tissue	UBERON:0002190	81.40	gold quality
skin of hip	UBERON:0001554	80.81	gold quality
heart right ventricle	UBERON:0002080	80.79	gold quality
amniotic fluid	UBERON:0000173	79.78	gold quality
palpebral conjunctiva	UBERON:0001812	79.55	gold quality
cardiac ventricle	UBERON:0002082	79.34	gold quality
adipose tissue of abdominal region	UBERON:0007808	79.30	gold quality
heart left ventricle	UBERON:0002084	79.25	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-HCAD-8	yes	50.62
E-HCAD-11	yes	39.27
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

103 targeting GIMAP1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-5010-5P	99.94	64.11	705
HSA-MIR-4525	99.94	64.38	675
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-8067	99.86	69.59	2260
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220

Literature-anchored findings (GeneRIF, showing 4)

• The himap1 gene belongs to a gene family clustered on chromosome 7q32-36 within a region highly syntenic to the mouse imap38 locus on chromosome 6B. (PMID:11814688)
• GIMAP1 and GIMAP4 genes are up-regulated by IL-12 and other Th1 differentiation-inducing cytokines in cells induced to differentiate toward Th1 lineage and down-regulated by IL-4 in cells induced to Th2. (PMID:18701445)
• Shows a critical role for the related mouse gene in mature lymphocyte development and survival. (PMID:20194894)
• GIMAP1 and SERHL variants may be important for appendicular lean mass (PMID:24626161)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Gimap1	ENSMUSG00000090019
rattus_norvegicus	Gimap1	ENSRNOG00000042229

Paralogs (7): GIMAP2 (ENSG00000106560), GIMAP6 (ENSG00000133561), GIMAP4 (ENSG00000133574), GIMAP8 (ENSG00000171115), GIMAP7 (ENSG00000179144), GIMAP5 (ENSG00000196329), GIMD1 (ENSG00000250298)

Protein

Protein identifiers

GTPase IMAP family member 1 — Q8WWP7 (reviewed: Q8WWP7)

Alternative names: Immunity-associated protein 1

All UniProt accessions (2): A0A090N8Z4, Q8WWP7

UniProt curated annotations — full annotation on UniProt →

Function. May regulate lymphocyte survival. Required for normal levels of mature T-lymphocytes and mature B-cells.

Subcellular location. Endoplasmic reticulum membrane. Golgi apparatus membrane.

Tissue specificity. Predominantly expressed in the spleen and to a lesser extent in the lymph nodes. Detected in T-cells.

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_570115* (*=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 (38 total): helix 12, region of interest 6, strand 6, binding site 4, topological domain 2, sequence variant 2, turn 2, chain 1, sequence conflict 1, transmembrane region 1, domain 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
3V70	X-RAY DIFFRACTION	2.21

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WWP7-F1	86.96	0.66

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 (4): 34–42; 55; 153–155; 190

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 130 (showing top): LEE_EARLY_T_LYMPHOCYTE_DN, CUI_TCF21_TARGETS_2_DN, CTGYNNCTYTAA_UNKNOWN, TGGAAA_NFAT_Q4_01, ZHENG_BOUND_BY_FOXP3, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, GOCC_ORGANELLE_SUBCOMPARTMENT, GOMF_GTPASE_ACTIVITY, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_RED_DN, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES, FIGUEROA_AML_METHYLATION_CLUSTER_5_DN, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_A, WINTER_HYPOXIA_DN, GSE13547_2H_VS_12_H_ANTI_IGM_STIM_ZFX_KO_BCELL_UP

GO Biological Process (0):

GO Molecular Function (4): GTPase activity (GO:0003924), GTP binding (GO:0005525), nucleotide binding (GO:0000166), protein binding (GO:0005515)

GO Cellular Component (5): Golgi membrane (GO:0000139), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	2
endomembrane system	2
intracellular membrane-bounded organelle	2
ribonucleoside triphosphate phosphatase activity	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
Golgi apparatus	1
bounding membrane of organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1220 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GIMAP1	AIG1	Q9NVV5	533
GIMAP1	GIMAP8	Q8ND71	447
GIMAP1	GIMAP6	Q6P9H5	428
GIMAP1	ASIP	P42127	411
GIMAP1	WDR86	Q86TI4	400
GIMAP1	C19orf38	A8MVS5	380
GIMAP1	C7orf33	Q8WU49	357
GIMAP1	DRC11L	A6NCM1	354
GIMAP1	TMEM176B	Q3YBM2	351
GIMAP1	SDR39U1	Q9NRG7	318
GIMAP1	KNCN	A6PVL3	314
GIMAP1	TMUB1	Q9BVT8	311
GIMAP1	ENPP5	Q9UJA9	309
GIMAP1	ZNF425	Q6IV72	304
GIMAP1	ZBED10P	Q96FA7	302

IntAct

138 interactions, top by confidence:

A	B	Type	Score
CLEC10A	GIMAP1	psi-mi:“MI:0915”(physical association)	0.600
GIMAP1	BIK	psi-mi:“MI:0915”(physical association)	0.560
GIMAP1	ERVFRD-1	psi-mi:“MI:0915”(physical association)	0.560
GIMAP1	SAR1A	psi-mi:“MI:0915”(physical association)	0.560
GIMAP1	SCN3B	psi-mi:“MI:0915”(physical association)	0.560
GIMAP1	TMX2	psi-mi:“MI:0915”(physical association)	0.560
GIMAP1	CD79A	psi-mi:“MI:0915”(physical association)	0.560
GIMAP1	FCGR2A	psi-mi:“MI:0915”(physical association)	0.560
GIMAP1	SLC14A1	psi-mi:“MI:0915”(physical association)	0.560
BIK	GIMAP1	psi-mi:“MI:0915”(physical association)	0.560
EBP	GIMAP1	psi-mi:“MI:0915”(physical association)	0.560
HSD17B11	GIMAP1	psi-mi:“MI:0915”(physical association)	0.560
ERVFRD-1	GIMAP1	psi-mi:“MI:0915”(physical association)	0.560
GIMAP1	REEP4	psi-mi:“MI:0915”(physical association)	0.560
GIMAP1	TMEM79	psi-mi:“MI:0915”(physical association)	0.560
STX1A	GIMAP1	psi-mi:“MI:0915”(physical association)	0.560
GIMAP1	CREB3L1	psi-mi:“MI:0915”(physical association)	0.560
PTGES	GIMAP1	psi-mi:“MI:0915”(physical association)	0.560
GIMAP1	ELOVL4	psi-mi:“MI:0915”(physical association)	0.560
GIMAP1	RMDN3	psi-mi:“MI:0915”(physical association)	0.560
SLC10A6	GIMAP1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (47): MINPP1 (Affinity Capture-MS), CST4 (Affinity Capture-MS), GIMAP1 (Two-hybrid), GIMAP1 (Two-hybrid), GIMAP1 (Two-hybrid), GIMAP1 (Two-hybrid), GIMAP1 (Two-hybrid), GIMAP1 (Two-hybrid), GIMAP1 (Two-hybrid), GIMAP1 (Two-hybrid), GIMAP1 (Two-hybrid), GIMAP1 (Two-hybrid), GIMAP1 (Two-hybrid), GIMAP1 (Two-hybrid), GIMAP1 (Two-hybrid)

ESM2 similar proteins: A2APT9, A5PJC7, A5PKB7, D7PDD4, O08672, O94761, O94989, P33076, P51617, P79621, Q16671, Q2LGB3, Q3T0Y9, Q496M5, Q49LS3, Q53GL7, Q5FVN6, Q5FWH6, Q5R866, Q5R8H1, Q5RA67, Q5VTJ3, Q60837, Q6P9H5, Q6UX68, Q75NR7, Q7Z6P3, Q86UT6, Q8BTN6, Q8BWA8, Q8BWF2, Q8CIE4, Q8IUD6, Q8IW93, Q8IYJ3, Q8K349, Q8K3L6, Q8K558, Q8NAG6, Q8R2S1

Diamond homologs: A5PKB7, F4HT21, G3X987, O23680, O81025, P54120, P70224, Q41009, Q4KLG2, Q5FVN6, Q6P9H5, Q75N62, Q8BWF2, Q8K349, Q8K3K9, Q8K3L6, Q8ND71, Q8NHV1, Q8WWP7, Q96F15, Q99JY3, Q99MI6, Q9C8U2, Q9C8V0, Q9C8V2, Q9NUV9, Q9T0F2, Q9T0F3, Q9T0F4, Q9UG22, E9PW74, Q9C8U5, Q9C8U6, Q9C8U7, Q9C8U8, Q9LVT3, O81283, C0HJV2, G3MZQ6, O81865

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	35
Likely benign	1
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

466 predictions. Top by Δscore:

Variant	Effect	Δscore
7:150716687:A:T	donor_gain	0.9900
7:150716687:AAAG:A	donor_loss	0.9900
7:150716689:AGGTG:A	donor_loss	0.9900
7:150716690:GGTG:G	donor_loss	0.9900
7:150716691:GT:G	donor_loss	0.9900
7:150722347:GC:G	donor_gain	0.9900
7:150722361:G:GT	donor_gain	0.9900
7:150719041:GGTAA:G	acceptor_gain	0.9800
7:150722365:TTCC:T	donor_gain	0.9800
7:150723031:AGT:A	donor_gain	0.9800
7:150716691:G:GG	donor_gain	0.9600
7:150719036:TTCCA:T	acceptor_loss	0.9600
7:150719037:TCCAG:T	acceptor_loss	0.9600
7:150719038:CCAG:C	acceptor_loss	0.9600
7:150719039:CA:C	acceptor_loss	0.9600
7:150719039:CAGGT:C	acceptor_loss	0.9600
7:150719040:A:T	acceptor_loss	0.9600
7:150719041:G:GA	acceptor_loss	0.9600
7:150722368:CAGG:C	donor_loss	0.9600
7:150722370:GG:G	donor_loss	0.9600
7:150722371:G:GC	donor_loss	0.9600
7:150722372:T:G	donor_loss	0.9600
7:150723030:T:TA	donor_gain	0.9600
7:150716686:GAAAG:G	donor_gain	0.9500
7:150719040:A:AG	acceptor_gain	0.9500
7:150719041:G:GG	acceptor_gain	0.9500
7:150719088:ATGG:A	donor_loss	0.9500
7:150719091:GTA:G	donor_loss	0.9500
7:150719091:GTAA:G	donor_loss	0.9500
7:150719092:T:A	donor_loss	0.9500

AlphaMissense

1960 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:150720455:T:C	F151L	0.983
7:150720457:C:A	F151L	0.983
7:150720457:C:G	F151L	0.983
7:150720374:T:C	F124L	0.982
7:150720376:C:A	F124L	0.982
7:150720376:C:G	F124L	0.982
7:150720419:T:C	F139L	0.978
7:150720421:C:A	F139L	0.978
7:150720421:C:G	F139L	0.978
7:150720124:G:C	K40N	0.973
7:150720124:G:T	K40N	0.973
7:150720263:T:C	F87L	0.970
7:150720265:C:A	F87L	0.970
7:150720265:C:G	F87L	0.970
7:150720123:A:T	K40M	0.969
7:150720161:T:C	F53L	0.968
7:150720163:C:A	F53L	0.968
7:150720163:C:G	F53L	0.968
7:150720125:A:C	S41R	0.965
7:150720127:C:A	S41R	0.965
7:150720127:C:G	S41R	0.965
7:150720144:T:C	I47T	0.965
7:150720456:T:C	F151S	0.965
7:150720123:A:C	K40T	0.964
7:150720122:A:G	K40E	0.958
7:150720122:A:C	K40Q	0.957
7:150720250:C:A	D82E	0.955
7:150720250:C:G	D82E	0.955
7:150720144:T:A	I47N	0.950
7:150720453:T:A	V150D	0.947

dbSNP variants (sampled 300 via entrez): RS1000027600 (7:150717447 T>C,G), RS1000732813 (7:150721045 C>A,T), RS1000745605 (7:150720908 G>A), RS1001207553 (7:150720818 A>C,G,T), RS1001523353 (7:150715256 G>A), RS1001625442 (7:150714909 T>A), RS1002468610 (7:150719742 G>A), RS1002625048 (7:150724342 G>A,C), RS1002677285 (7:150724553 C>G), RS1002733337 (7:150718075 A>G), RS1002764626 (7:150718150 T>C), RS1003205366 (7:150717793 T>C), RS1004302810 (7:150722773 T>C), RS1004356982 (7:150723090 A>G), RS1004648464 (7:150724655 G>A,C)

Disease associations

OMIM: gene MIM:608084 | 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

15 total (human), top 15 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases expression	2
triphenyl phosphate	affects expression	1
bisphenol A	affects methylation	1
cobaltous chloride	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
Air Pollutants	affects expression, increases abundance	1
Air Pollutants, Occupational	decreases expression	1
Catechin	decreases expression, affects cotreatment	1
Methotrexate	decreases expression	1
Nickel	decreases expression	1
Ozone	increases abundance, affects expression	1
Aflatoxin B1	increases methylation	1
Sodium Selenite	increases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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