ITGB1BP1

Summary

ITGB1BP1 (integrin subunit beta 1 binding protein 1, HGNC:23927) is a protein-coding gene on chromosome 2p25.1, encoding Integrin beta-1-binding protein 1 (O14713). Key regulator of the integrin-mediated cell-matrix interaction signaling by binding to the ITGB1 cytoplasmic tail and preventing the activation of integrin alpha-5/beta-1 (heterodimer of ITGA5 and ITGB1) by talin or FERMT1.

The cytoplasmic domains of integrins are essential for cell adhesion. The protein encoded by this gene binds to the beta1 integrin cytoplasmic domain. The interaction between this protein and beta1 integrin is highly specific. Two isoforms of this protein are derived from alternatively spliced transcripts. The shorter form of this protein does not interact with the beta1 integrin cytoplasmic domain. The longer form is a phosphoprotein and the extent of its phosphorylation is regulated by the cell-matrix interaction, suggesting an important role of this protein during integrin-dependent cell adhesion. Several transcript variants, some protein-coding and some non-protein coding, have been found for this gene.

Source: NCBI Gene 9270 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 40 total
• MANE Select transcript: NM_004763

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23927
Approved symbol	ITGB1BP1
Name	integrin subunit beta 1 binding protein 1
Location	2p25.1
Locus type	gene with protein product
Status	Approved
Aliases	ICAP-1A, ICAP-1B, ICAP1, ICAP1A, ICAP1B, ICAP-1alpha
Ensembl gene	ENSG00000119185
Ensembl biotype	protein_coding
OMIM	607153
Entrez	9270

Gene structure

Transcript identifiers

Ensembl transcripts: 76 — 67 protein_coding, 4 retained_intron, 3 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000238091, ENST00000355346, ENST00000359712, ENST00000360635, ENST00000456913, ENST00000460001, ENST00000460720, ENST00000463190, ENST00000464228, ENST00000465527, ENST00000467606, ENST00000470507, ENST00000482798, ENST00000483795, ENST00000484735, ENST00000488451, ENST00000490426, ENST00000492079, ENST00000494563, ENST00000497031, ENST00000497105, ENST00000865953, ENST00000865954, ENST00000865955, ENST00000865956, ENST00000865957, ENST00000865958, ENST00000865959, ENST00000865960, ENST00000865961, ENST00000865962, ENST00000865963, ENST00000865964, ENST00000865965, ENST00000865966, ENST00000865967, ENST00000865968, ENST00000865969, ENST00000865970, ENST00000865971, ENST00000865972, ENST00000865973, ENST00000865974, ENST00000865975, ENST00000865976, ENST00000865977, ENST00000865978, ENST00000865979, ENST00000865980, ENST00000865981, ENST00000865982, ENST00000865983, ENST00000865984, ENST00000865985, ENST00000921579, ENST00000921580, ENST00000921581, ENST00000921582, ENST00000921583, ENST00000949982, ENST00000949983, ENST00000949984, ENST00000949985, ENST00000949986, ENST00000949987, ENST00000949988, ENST00000949989, ENST00000949990, ENST00000949991, ENST00000949992, ENST00000949993, ENST00000949994, ENST00000949995, ENST00000949996, ENST00000949999, ENST00000950001

RefSeq mRNA: 14 — MANE Select: NM_004763 NM_001319066, NM_001319067, NM_001319068, NM_001319069, NM_001319070, NM_001369744, NM_001369745, NM_001369746, NM_001369747, NM_001369748, NM_001369749, NM_001369750, NM_004763, NM_022334

CCDS: CCDS1662, CCDS1663

Canonical transcript exons

ENST00000355346 — 7 exons

Exon	Start	End
ENSE00001490443	9403475	9406905
ENSE00001856948	9423373	9423528
ENSE00002201483	9418626	9418732
ENSE00003482542	9414178	9414256
ENSE00003621419	9407449	9407598
ENSE00003684022	9408113	9408205
ENSE00003789851	9412269	9412405

Expression profiles

Bgee: expression breadth ubiquitous, 296 present calls, max score 98.57.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 42.8716 / max 508.9422, expressed in 1822 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
26815	27.1120	1818
26812	11.3124	1689
26813	2.7431	1417
26814	1.3370	880
26811	0.2903	128
26810	0.0770	15

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endocervix	UBERON:0000458	98.57	gold quality
subcutaneous adipose tissue	UBERON:0002190	98.54	gold quality
adipose tissue	UBERON:0001013	98.53	gold quality
adipose tissue of abdominal region	UBERON:0007808	98.37	gold quality
omental fat pad	UBERON:0010414	98.35	gold quality
peritoneum	UBERON:0002358	98.33	gold quality
tibial nerve	UBERON:0001323	98.32	gold quality
right frontal lobe	UBERON:0002810	98.20	gold quality
connective tissue	UBERON:0002384	98.16	gold quality
caudate nucleus	UBERON:0001873	98.13	gold quality
putamen	UBERON:0001874	98.09	gold quality
mucosa of stomach	UBERON:0001199	98.03	gold quality
apex of heart	UBERON:0002098	97.99	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	97.98	gold quality
nucleus accumbens	UBERON:0001882	97.95	gold quality
prefrontal cortex	UBERON:0000451	97.81	gold quality
left coronary artery	UBERON:0001626	97.72	gold quality
Brodmann (1909) area 9	UBERON:0013540	97.67	gold quality
lower esophagus muscularis layer	UBERON:0035833	97.63	gold quality
lower esophagus	UBERON:0013473	97.62	gold quality
right hemisphere of cerebellum	UBERON:0014890	97.58	gold quality
metanephros cortex	UBERON:0010533	97.57	gold quality
body of uterus	UBERON:0009853	97.51	gold quality
cerebellar hemisphere	UBERON:0002245	97.50	gold quality
ectocervix	UBERON:0012249	97.50	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	97.50	gold quality
cerebellar cortex	UBERON:0002129	97.46	gold quality
ventricular zone	UBERON:0003053	97.44	gold quality
cingulate cortex	UBERON:0003027	97.37	gold quality
coronary artery	UBERON:0001621	97.36	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	19.62
E-GEOD-75367	no	230.70

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

50 targeting ITGB1BP1, 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-4481	100.00	66.42	1669
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-4302	99.89	67.94	1187
HSA-MIR-4420	99.82	70.08	1624
HSA-MIR-181B-2-3P	99.81	70.06	1646
HSA-MIR-181B-3P	99.81	70.06	1646
HSA-MIR-489-3P	99.80	66.46	839
HSA-MIR-4679	99.76	69.19	1229
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-3913-3P	99.74	66.53	938
HSA-MIR-1197	99.70	67.75	1027
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-1208	99.70	68.28	1533
HSA-MIR-7157-5P	99.66	69.33	1829
HSA-MIR-6861-3P	99.60	68.46	444
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-4276	99.56	67.66	2514
HSA-MIR-6733-3P	99.54	67.80	1281
HSA-MIR-4677-3P	99.49	67.91	1246
HSA-MIR-542-3P	99.34	67.58	1270
HSA-MIR-6505-3P	99.34	67.39	1071
HSA-MIR-4504	99.10	69.14	1328
HSA-MIR-670-3P	99.03	68.88	2404
HSA-MIR-4711-3P	98.97	66.87	1020
HSA-MIR-1245B-5P	98.88	66.55	576
HSA-MIR-3142	98.88	66.09	529

Literature-anchored findings (GeneRIF, showing 13)

• Site-directed mutagenesis showed that Leu(135), Ile(138), and Ile(139) of Icap1 alpha, and Leu(82) and Tyr(144), are required for the Icap1 alpha-beta(1) integrin interaction (PMID:11741908)
• Integrin-binding protein also interacts with Krit 1 protein, cause of CCM1. (ICAP-1, integrin cytoplasmic domain-associated protein 1) (PMID:11854171)
• beta(1) integrin viability signal in collagen matrices is transduced by focal adhesion kinase (PMID:15166238)
• ICAP-1 shuttles between the nucleus and cytoplasm in a beta1 integrin-dependent manner (PMID:15703214)
• TNF-alpha induced expression of c-IAP1 and c-IAP2 via MAP kinases, but not via NF-kappaB, and that MAP kinases participated in the inhibition of apoptosis by induction of c-IAPs in TNF-alpha-stimulated endothelial cells (PMID:17133355)
• integrin cytoplasmic domain-associated protein-1 alpha (icap1alpha) act concordantly to play a critical role in beta1-integrin-mediated cell proliferation. (PMID:18812969)
• Identify ICAP1 as a novel regulator to prevent excessive sprouting angiogenesis. (PMID:20616313)
• Annexin A1 is associated with gastric cancer survival and promotes gastric cancer cell invasiveness through the formyl peptide receptor/extracellular signal-regulated kinase/integrin beta-1-binding protein 1 pathway. (PMID:22736399)
• The structural basis for KRIT1 antagonized ICAP1-modulated integrin-beta1 activation. (PMID:23317506)
• The cocrystal structure of ICAP1 in complex with krev interaction trapped protein (KRIT)1 is characterized here. (PMID:23695561)
• nuclear-cytoplasmic shuttling of ICAP1 influences both integrin activation and KRIT1 localization, presumably impacting nuclear functions of KRIT1. (PMID:28003363)
• ICAP-1 monoubiquitylation helps in switching from ROCK2-mediated to MRCKalpha-mediated cell contractility. (PMID:28049720)
• Serine phosphorylation of the small phosphoprotein ICAP1 inhibits its nuclear accumulation. (PMID:32005669)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	itgb1bp1	ENSDARG00000007169
mus_musculus	Itgb1bp1	ENSMUSG00000062352
rattus_norvegicus	Itgb1bp1	ENSRNOG00000059402

Protein

Protein identifiers

Integrin beta-1-binding protein 1 — O14713 (reviewed: O14713)

Alternative names: Integrin cytoplasmic domain-associated protein 1

All UniProt accessions (10): O14713, A8MPU2, C9IZZ8, C9J0J6, C9J5T5, C9J6Y2, C9JBU8, C9JZ07, F8WF20, G3V1A3

UniProt curated annotations — full annotation on UniProt →

Function. Key regulator of the integrin-mediated cell-matrix interaction signaling by binding to the ITGB1 cytoplasmic tail and preventing the activation of integrin alpha-5/beta-1 (heterodimer of ITGA5 and ITGB1) by talin or FERMT1. Plays a role in cell proliferation, differentiation, spreading, adhesion and migration in the context of mineralization and bone development and angiogenesis. Stimulates cellular proliferation in a fibronectin-dependent manner. Involved in the regulation of beta-1 integrin-containing focal adhesion (FA) site dynamics by controlling its assembly rate during cell adhesion; inhibits beta-1 integrin clustering within FA by directly competing with talin TLN1, and hence stimulates osteoblast spreading and migration in a fibronectin- and/or collagen-dependent manner. Acts as a guanine nucleotide dissociation inhibitor (GDI) by regulating Rho family GTPases during integrin-mediated cell matrix adhesion; reduces the level of active GTP-bound form of both CDC42 and RAC1 GTPases upon cell adhesion to fibronectin. Stimulates the release of active CDC42 from the membranes to maintain it in an inactive cytoplasmic pool. Participates in the translocation of the Rho-associated protein kinase ROCK1 to membrane ruffles at cell leading edges of the cell membrane, leading to an increase of myoblast cell migration on laminin. Plays a role in bone mineralization at a late stage of osteoblast differentiation; modulates the dynamic formation of focal adhesions into fibrillar adhesions, which are adhesive structures responsible for fibronectin deposition and fibrillogenesis. Plays a role in blood vessel development; acts as a negative regulator of angiogenesis by attenuating endothelial cell proliferation and migration, lumen formation and sprouting angiogenesis by promoting AKT phosphorylation and inhibiting ERK1/2 phosphorylation through activation of the Notch signaling pathway. Promotes transcriptional activity of the MYC promoter.

Subunit / interactions. Interacts (via N-terminus and PTB domain) with ROCK1. Found in a complex, at least composed of ITGB1BP1, KRIT1 and RAP1A. Interacts (via C-terminal region) with ITGB1 (via C-terminal cytoplasmic tail); the interaction prevents talin TLN1 binding to ITGB1 and KRIT1 and ITGB1 compete for the same binding site. Interacts with KRIT1 (via N-terminal NPXY motif); the interaction induces the opening conformation of KRIT1 and KRIT1 and ITGB1 compete for the same binding site. Isoform 2 does not interact with ITGB1. Interacts with CDC42 (GTP- or GDP-bound form); the interaction is increased with the CDC42-membrane bound forms and prevents both CDC42 activation and cell spreading. Interacts (via C-terminal domain region) with NME2. Interacts with FERMT2 and RAC1.

Subcellular location. Nucleus. Cytoplasm. Cytoskeleton. Cell membrane. Cell projection. Lamellipodium. Ruffle.

Tissue specificity. Expressed in endothelial cells and fibroblasts (at protein level). Ubiquitously expressed. Expressed in intestine, colon, testis, ovary, thymus, spleen and prostate.

Post-translational modifications. Phosphorylation at Thr-38 seems to enhance integrin alpha5beta1-mediated cell adhesion. The degree of phosphorylation is regulated by integrin-dependent cell-matrix interaction.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Isoforms (2)

UniProt ID	Names	Canonical?
O14713-1	1, ICAP1-alpha	yes
O14713-2	2, ICAP1-beta

RefSeq proteins (14): NP_001305995, NP_001305996, NP_001305997, NP_001305998, NP_001305999, NP_001356673, NP_001356674, NP_001356675, NP_001356676, NP_001356677, NP_001356678, NP_001356679, NP_004754, NP_071729 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006020	PTB/PI_dom	Domain
IPR019517	Integrin-bd_ICAP-1	Family

Pfam: PF10480

UniProt features (41 total): mutagenesis site 16, strand 9, region of interest 3, helix 3, compositionally biased region 3, modified residue 2, chain 1, domain 1, splice variant 1, sequence conflict 1, short sequence motif 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
4JIF	X-RAY DIFFRACTION	1.7
4DX8	X-RAY DIFFRACTION	2.54
4DX9	X-RAY DIFFRACTION	2.99

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O14713-F1	80.76	0.61

Functional residue map

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

Post-translational modifications (2): 41, 38

Mutagenesis-validated functional residues (16):

Position	Phenotype
6–7	abolishes nuclear import and transcriptional activity.
38	stimulates cell spreading on fibronectin to a similar extent as inhibition of camkii.
38	changes in cell spreading.
38	strong defect in cell spreading.
82	reduces itgb1 binding.
82	no effect on itgb1 binding.
86	no effect on itgb1 binding.
89	reduces krit1 binding. no effect on itgb1 binding.
93	abolishes krit1 binding; when associated with a-96.
96	abolishes krit1 binding; when associated with a-93.
135–139	reduces krit1 and itgb1 binding.
135	abolishes itgb1 binding.
138	abolishes itgb1 binding.
139	abolishes itgb1 binding.
144	abolishes itgb1 binding.
184	reduces krit1 and itgb1 binding.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 340 (showing top): GOBP_NEGATIVE_REGULATION_OF_ERK1_AND_ERK2_CASCADE, chr2p25, GOBP_ACTIN_FILAMENT_BUNDLE_ORGANIZATION, GOBP_REGULATION_OF_PROTEIN_BINDING, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_REGULATION_OF_PHOSPHORYLATION, GOBP_NEGATIVE_REGULATION_OF_KINASE_ACTIVITY, GOBP_NEGATIVE_REGULATION_OF_BLOOD_VESSEL_ENDOTHELIAL_CELL_MIGRATION, GOBP_FOCAL_ADHESION_ASSEMBLY, GOBP_CELL_MIGRATION_INVOLVED_IN_SPROUTING_ANGIOGENESIS, GOBP_POSITIVE_REGULATION_OF_NOTCH_SIGNALING_PATHWAY, GOBP_PROTEIN_TARGETING, GOBP_REGULATION_OF_GTPASE_ACTIVITY, AMIT_SERUM_RESPONSE_20_MCF10A

GO Biological Process (45): blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043), negative regulation of protein kinase activity (GO:0006469), negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933), cell-matrix adhesion (GO:0007160), Notch signaling pathway (GO:0007219), integrin-mediated signaling pathway (GO:0007229), positive regulation of cell population proliferation (GO:0008284), negative regulation of cell population proliferation (GO:0008285), positive regulation of endothelial cell migration (GO:0010595), negative regulation of fibroblast migration (GO:0010764), cell migration (GO:0016477), cell differentiation (GO:0030154), biomineral tissue development (GO:0031214), negative regulation of protein binding (GO:0032091), activation of protein kinase B activity (GO:0032148), integrin activation (GO:0033622), regulation of cell adhesion mediated by integrin (GO:0033628), tube formation (GO:0035148), intracellular signal transduction (GO:0035556), cellular response to vascular endothelial growth factor stimulus (GO:0035924), regulation of GTPase activity (GO:0043087), receptor clustering (GO:0043113), cellular response to fibroblast growth factor stimulus (GO:0044344), positive regulation of Notch signaling pathway (GO:0045747), positive regulation of transcription by RNA polymerase II (GO:0045944), myoblast migration (GO:0051451), positive regulation of stress fiber assembly (GO:0051496), positive regulation of cell division (GO:0051781), positive regulation of focal adhesion assembly (GO:0051894), negative regulation of focal adhesion assembly (GO:0051895), positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051897), negative regulation of ERK1 and ERK2 cascade (GO:0070373), protein localization to plasma membrane (GO:0072659), negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051), positive regulation of protein targeting to membrane (GO:0090314), negative regulation of protein targeting to membrane (GO:0090315), blood vessel diameter maintenance (GO:0097746), negative regulation of substrate adhesion-dependent cell spreading (GO:1900025), regulation of integrin-mediated signaling pathway (GO:2001044), angiogenesis (GO:0001525)

GO Molecular Function (5): GDP-dissociation inhibitor activity (GO:0005092), integrin binding (GO:0005178), protein kinase binding (GO:0019901), protein binding (GO:0005515), kinase binding (GO:0019900)

GO Cellular Component (14): ruffle (GO:0001726), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), membrane (GO:0016020), nuclear body (GO:0016604), lamellipodium (GO:0030027), centriolar satellite (GO:0034451), perinuclear region of cytoplasm (GO:0048471), cell periphery (GO:0071944), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	8
cell surface receptor signaling pathway	2
cell population proliferation	2
regulation of cell population proliferation	2
intracellular anatomical structure	2
cell leading edge	2
plasma membrane bounded cell projection	2
cytoplasm	2
intracellular membraneless organelle	2
endothelial cell proliferation	1
sprouting angiogenesis	1
negative regulation of protein phosphorylation	1
protein kinase activity	1
negative regulation of kinase activity	1
regulation of protein kinase activity	1
substrate-dependent cell migration	1
negative regulation of cell adhesion	1
cell-substrate adhesion	1
positive regulation of cellular process	1
negative regulation of cellular process	1
regulation of endothelial cell migration	1
positive regulation of cell migration	1
endothelial cell migration	1
fibroblast migration	1
regulation of fibroblast migration	1
negative regulation of cell migration	1
cell motility	1
cellular developmental process	1
tissue development	1
animal organ development	1
protein binding	1
regulation of protein binding	1
negative regulation of binding	1
activation of protein kinase activity	1
protein-containing complex assembly	1
regulation of cell adhesion	1
cell adhesion mediated by integrin	1
tube morphogenesis	1
anatomical structure formation involved in morphogenesis	1
signal transduction	1

Protein interactions and networks

STRING

552 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ITGB1BP1	KRIT1	O00522	992
ITGB1BP1	CCM2	Q9BSQ5	962
ITGB1BP1	ITGB1	P05556	946
ITGB1BP1	PDCD10	Q9BUL8	919
ITGB1BP1	RAP1A	P10113	889
ITGB1BP1	MAP3K3	Q99759	835
ITGB1BP1	NME2	P22392	833
ITGB1BP1	NME1	P15531	710
ITGB1BP1	TLN1	Q9Y490	620
ITGB1BP1	TLN2	Q9Y4G6	619
ITGB1BP1	RAP1B	P09526	612
ITGB1BP1	FLNB	O75369	610
ITGB1BP1	FLNA	P21333	606
ITGB1BP1	STK25	O00506	592
ITGB1BP1	RHOA	P06749	589

IntAct

44 interactions, top by confidence:

A	B	Type	Score
CCM2	KRIT1	psi-mi:“MI:0914”(association)	0.960
ITGB1BP1	KRIT1	psi-mi:“MI:0915”(physical association)	0.740
KRIT1	ITGB1BP1	psi-mi:“MI:0915”(physical association)	0.740
	ITGB1BP1	psi-mi:“MI:0915”(physical association)	0.570
ITGB1BP1		psi-mi:“MI:0915”(physical association)	0.570
ITGB1BP1	FIGNL1	psi-mi:“MI:0915”(physical association)	0.560
FIGNL1	ITGB1BP1	psi-mi:“MI:0915”(physical association)	0.560
ITGB1BP1	RHOH	psi-mi:“MI:0915”(physical association)	0.560
	ITGB1BP1	psi-mi:“MI:0915”(physical association)	0.560
ITGB1BP1	DLD	psi-mi:“MI:0915”(physical association)	0.560
ITGB1BP1	SOD1	psi-mi:“MI:0915”(physical association)	0.560
ITGB1BP1	SNCA	psi-mi:“MI:0915”(physical association)	0.560
ITGB1BP1	ATXN1	psi-mi:“MI:0915”(physical association)	0.560
TLNRD1	KRIT1	psi-mi:“MI:0914”(association)	0.530
ITGB1BP1	SMO	psi-mi:“MI:0915”(physical association)	0.370
ITGB1BP1	EEF1A1	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (47): FIGNL1 (Two-hybrid), PGRMC1 (Two-hybrid), KRIT1 (Two-hybrid), ITGB1BP1 (Affinity Capture-Luminescence), ITGB1BP1 (Affinity Capture-MS), ITGB1BP1 (Two-hybrid), ITGB1 (Reconstituted Complex), ITGB1BP1 (Reconstituted Complex), SMURF1 (Affinity Capture-Western), SMURF1 (Reconstituted Complex), ITGB1BP1 (Reconstituted Complex), ITGB1BP1 (Affinity Capture-MS), ITGB1BP1 (Affinity Capture-MS), ITGB1BP1 (Affinity Capture-RNA), ITGB1BP1 (Two-hybrid)

ESM2 similar proteins: A8K855, B0UXH6, D3ZAR1, F4JSE7, O14713, O35346, O35671, O75165, O97790, P34152, P42331, P59113, Q00944, Q05397, Q07139, Q0IJ35, Q2I6J1, Q32PV0, Q3UBG2, Q3ZBM4, Q4R7W3, Q5M7Y0, Q5PQS4, Q5R5S7, Q5R8M5, Q5RID7, Q5SW96, Q5U2Z7, Q61120, Q67FQ3, Q6DRP4, Q7Z2X4, Q801G1, Q80T23, Q812E4, Q86TI0, Q8AY68, Q8BYW1, Q8C142, Q8C4V1

Diamond homologs: O14713, O35671, Q3ZBM4, Q5R5S7

SIGNOR signaling

33 interactions.

A	Effect	B	Mechanism
ITGB1BP1	“down-regulates activity”	ITGB1	binding
ITGB1BP1	“down-regulates activity”	“A1/b1 integrin”	binding
ITGB1BP1	“down-regulates activity”	“A2/b1 integrin”	binding
ITGB1BP1	“down-regulates activity”	“A3/b1 integrin”	binding
ITGB1BP1	“down-regulates activity”	“A4/b1 integrin”	binding
ITGB1BP1	“down-regulates activity”	“A5/b1 integrin”	binding
ITGB1BP1	“down-regulates activity”	“A6/b1 integrin”	binding
ITGB1BP1	“down-regulates activity”	“A8/b1 integrin”	binding
ITGB1BP1	“down-regulates activity”	“A9/b1 integrin”	binding
ITGB1BP1	“down-regulates activity”	“A10/b1 integrin”	binding
ITGB1BP1	“down-regulates activity”	“A11/b1 integrin”	binding
ITGB1BP1	“down-regulates activity”	ITGB2	binding
ITGB1BP1	“down-regulates activity”	“AL/b2 integrin”	binding
ITGB1BP1	“down-regulates activity”	“AM/b2 integrin”	binding
ITGB1BP1	“down-regulates activity”	“AX/b2 integrin”	binding
ITGB1BP1	“down-regulates activity”	“Av/b2 integrin”	binding
ITGB1BP1	“down-regulates activity”	“AD/b2 integrin”	binding
ITGB1BP1	“down-regulates activity”	“AIIB/b3 integrin”	binding
ITGB1BP1	“down-regulates activity”	ITGB3	binding
ITGB1BP1	“down-regulates activity”	“Av/b3 integrin”	binding
ITGB1BP1	“down-regulates activity”	ITGB4	binding
ITGB1BP1	“down-regulates activity”	“A6/b4 integrin”	binding
ITGB1BP1	“down-regulates activity”	ITGB5	binding
ITGB1BP1	“down-regulates activity”	“Av/b5 integrin”	binding
ITGB1BP1	“down-regulates activity”	ITGB6	binding
ITGB1BP1	“down-regulates activity”	“Av/b6 integrin”	binding
ITGB1BP1	“down-regulates activity”	ITGB7	binding
ITGB1BP1	“down-regulates activity”	“AE/b7 integrin”	binding
ITGB1BP1	“down-regulates activity”	“A4/b7 integrin”	binding
ITGB1BP1	“down-regulates activity”	ITGB8	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	20
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1600 predictions. Top by Δscore:

Variant	Effect	Δscore
2:9408208:T:TC	acceptor_gain	1.0000
2:9412402:TGTC:T	acceptor_gain	1.0000
2:9412406:C:CC	acceptor_gain	1.0000
2:9412406:CTGAA:C	acceptor_loss	1.0000
2:9413146:T:A	donor_gain	1.0000
2:9414257:C:CC	acceptor_gain	1.0000
2:9419988:A:AC	donor_gain	1.0000
2:9419989:C:CC	donor_gain	1.0000
2:9423655:G:GT	donor_gain	1.0000
2:9423845:G:T	donor_gain	1.0000
2:9408111:A:AC	donor_gain	0.9900
2:9408112:C:CC	donor_gain	0.9900
2:9408112:CATA:C	donor_gain	0.9900
2:9408202:CTTG:C	acceptor_gain	0.9900
2:9408206:C:CC	acceptor_gain	0.9900
2:9408207:T:C	acceptor_gain	0.9900
2:9408208:T:C	acceptor_gain	0.9900
2:9412263:TTTTA:T	donor_loss	0.9900
2:9412264:TTTA:T	donor_loss	0.9900
2:9412265:TTA:T	donor_loss	0.9900
2:9412266:TA:T	donor_loss	0.9900
2:9412267:A:AG	donor_loss	0.9900
2:9412268:C:CA	donor_loss	0.9900
2:9412401:TTGTC:T	acceptor_gain	0.9900
2:9412403:GTC:G	acceptor_gain	0.9900
2:9412404:TC:T	acceptor_gain	0.9900
2:9412405:CC:C	acceptor_gain	0.9900
2:9412412:A:AC	acceptor_gain	0.9900
2:9412412:A:C	acceptor_gain	0.9900
2:9413109:A:AC	donor_gain	0.9900

AlphaMissense

1307 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:9407510:A:G	L157P	0.999
2:9407585:C:A	R132M	0.999
2:9407513:G:T	A156D	0.998
2:9407584:C:A	R132S	0.998
2:9407584:C:G	R132S	0.998
2:9408138:A:T	I119K	0.998
2:9408192:A:G	L101S	0.998
2:9414218:G:C	S37R	0.998
2:9414218:G:T	S37R	0.998
2:9414220:T:G	S37R	0.998
2:9407460:A:G	C174R	0.997
2:9407466:A:C	Y172D	0.997
2:9407516:A:G	L155P	0.997
2:9407585:C:G	R132T	0.997
2:9408138:A:C	I119R	0.997
2:9408141:C:T	G118D	0.997
2:9408142:C:G	G118R	0.997
2:9412282:A:T	I92K	0.997
2:9412294:A:G	L88P	0.997
2:9407567:A:T	I138K	0.996
2:9407576:A:T	L135H	0.996
2:9407586:T:C	R132G	0.996
2:9412282:A:C	I92R	0.996
2:9414206:G:C	S41R	0.996
2:9414206:G:T	S41R	0.996
2:9414208:T:G	S41R	0.996
2:9418692:A:C	F2L	0.996
2:9418692:A:T	F2L	0.996
2:9418694:A:G	F2L	0.996
2:9407468:A:T	V171D	0.995

dbSNP variants (sampled 300 via entrez): RS1000075612 (2:9423385 G>A,T), RS1000311486 (2:9416283 C>T), RS1000418779 (2:9415850 C>T), RS1000544851 (2:9405233 G>A), RS1000567529 (2:9423399 T>C), RS1000639656 (2:9410010 A>G), RS1000815377 (2:9403761 T>G), RS1000914804 (2:9405455 G>A), RS1000989299 (2:9410279 T>A), RS1001187813 (2:9404958 CAT>C), RS1001231502 (2:9412955 G>A), RS1001370631 (2:9409091 T>C), RS1001650542 (2:9415443 T>C), RS1001703330 (2:9422058 A>G), RS1001818087 (2:9407188 T>C,G)

Disease associations

OMIM: gene MIM:607153 | 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

36 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cocaine	increases expression	2
Tretinoin	decreases expression, increases expression	2
Valproic Acid	increases expression, affects expression	2
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
bisphenol A	decreases expression	1
beta-lapachone	decreases expression, increases expression	1
arsenite	affects binding, increases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
3-nitrobenzanthrone	increases expression	1
ICG 001	decreases expression	1
14-deoxy-11,12-didehydroandrographolide	decreases expression	1
enzalutamide	affects expression	1
(+)-JQ1 compound	decreases expression	1
Sunitinib	increases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Cadmium	increases abundance, increases expression	1
Heroin	increases expression	1
Lead	increases expression	1
Phenobarbital	affects expression	1
Progesterone	decreases expression	1
Silicon Dioxide	increases expression	1
Smoke	decreases expression	1
Vinblastine	affects response to substance	1

Clinical trials (associated diseases)

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