IGBP1C

Summary

IGBP1C (IGBP1 family member C, HGNC:43611) is a protein-coding gene on chromosome 17q22, encoding Immunoglobulin-binding protein 1 family member C (A0A1W2PR95).

Predicted to enable protein phosphatase 2A binding activity. Predicted to be involved in regulation of dephosphorylation. Predicted to be active in cytosol.

Source: NCBI Gene 645545 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001395966

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:43611
Approved symbol	IGBP1C
Name	IGBP1 family member C
Location	17q22
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000266826
Ensembl biotype	protein_coding
Entrez	645545

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000583666

RefSeq mRNA: 1 — MANE Select: NM_001395966 NM_001395966

CCDS: CCDS92369

Canonical transcript exons

ENST00000583666 — 2 exons

Exon	Start	End
ENSE00002726519	58660424	58661829
ENSE00003978166	58691939	58692045

Expression profiles

Bgee: expression breadth broad, 13 present calls, max score 84.69.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0203 / max 11.7282, expressed in 5 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
167306	0.0203	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.69	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.87	gold quality
testis	UBERON:0000473	73.01	gold quality
left testis	UBERON:0004533	72.84	gold quality
right testis	UBERON:0004534	72.31	gold quality
placenta	UBERON:0001987	51.10	gold quality
cortical plate	UBERON:0005343	44.12	silver quality
bone marrow cell	CL:0002092	40.31	gold quality
lower esophagus mucosa	UBERON:0035834	38.22	gold quality
ganglionic eminence	UBERON:0004023	37.32	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
skeletal muscle tissue	UBERON:0001134	36.62	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
granulocyte	CL:0000094	35.89	gold quality
mucosa of transverse colon	UBERON:0004991	35.03	gold quality
muscle tissue	UBERON:0002385	34.62	gold quality
bone marrow	UBERON:0002371	33.86	gold quality
mucosa of stomach	UBERON:0001199	32.70	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
urinary bladder	UBERON:0001255	30.00	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
right uterine tube	UBERON:0001302	29.43	gold quality
vermiform appendix	UBERON:0001154	29.41	gold quality
prefrontal cortex	UBERON:0000451	29.36	gold quality
leukocyte	CL:0000738	29.02	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	28.97	gold quality
left ovary	UBERON:0002119	28.71	gold quality
gall bladder	UBERON:0002110	28.62	gold quality
monocyte	CL:0000576	28.58	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.77

Regulation

Is transcription factor: no

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	igbp1	ENSDARG00000002184
mus_musculus	Igbp1	ENSMUSG00000031221
rattus_norvegicus	Igbp1	ENSRNOG00000026267
drosophila_melanogaster	Tap42	FBGN0051852
caenorhabditis_elegans		WBGENE00022193

Paralogs (1): IGBP1 (ENSG00000089289)

Protein

Protein identifiers

Immunoglobulin-binding protein 1 family member C — A0A1W2PR95 (reviewed: A0A1W2PR95)

All UniProt accessions (1): A0A1W2PR95

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the IGBP1/TAP42 family.

RefSeq proteins (1): NP_001382895* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007304	TAP46-like	Family
IPR038511	TAP42/TAP46-like_sf	Homologous_superfamily

Pfam: PF04177

UniProt features (5 total): region of interest 2, compositionally biased region 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1W2PR95-F1	80.63	0.45

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 9 (showing top): GOBP_REGULATION_OF_DEPHOSPHORYLATION, GOBP_DEPHOSPHORYLATION, chr17q22, GOBP_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS, GOMF_PROTEIN_PHOSPHATASE_BINDING, GOMF_PHOSPHATASE_BINDING, GOMF_PROTEIN_PHOSPHATASE_2A_BINDING, FOSTER_KDM1A_TARGETS_UP, GOBP_PHOSPHORUS_METABOLIC_PROCESS

GO Biological Process (2): regulation of signal transduction (GO:0009966), regulation of dephosphorylation (GO:0035303)

GO Molecular Function (1): protein phosphatase 2A binding (GO:0051721)

GO Cellular Component (1): cytosol (GO:0005829)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
signal transduction	1
regulation of cell communication	1
regulation of signaling	1
regulation of response to stimulus	1
dephosphorylation	1
regulation of metabolic process	1
protein phosphatase binding	1
cytoplasm	1
cellular anatomical structure	1

Protein interactions and networks

STRING

306 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IGBP1C	MRPL40	Q9NQ50	353
IGBP1C	PPP4C	P33172	349
IGBP1C	ZNF816	Q0VGE8	349
IGBP1C	PTPA	Q15257	349
IGBP1C	PPP6C	O00743	349
IGBP1C	VAPB	O95292	349
IGBP1C	MLST8	Q9BVC4	348
IGBP1C	RPTOR	Q8N122	347
IGBP1C	LCMT1	Q9UIC8	344
IGBP1C	PPP4R2	Q9NY27	338
IGBP1C	ABHD13	Q7L211	337
IGBP1C	EIF2AK4	Q9P2K8	330
IGBP1C	NSUN3	Q9H649	305
IGBP1C	MTOR	P42345	302
IGBP1C	PPP4R1	Q8TF05	300

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1S4D1D3, A0A1W2PR95, A1D9I5, A5D796, A7SD85, B0W6N3, D2K8N5, E1C760, E7EXT2, F7AEX0, O08836, O57476, P51951, P54729, P78318, P92948, Q0CU99, Q16543, Q16891, Q173M7, Q1DM35, Q2PIU8, Q2QY04, Q3ZC62, Q4V8E4, Q4W9M7, Q5AXH3, Q5EAC6, Q5M990, Q5PQS7, Q61081, Q61249, Q63692, Q6PID6, Q7SYB2, Q8C6E0, Q8CAQ8, Q8LDQ4, Q8R3N6, Q93VM9

Diamond homologs: A0A1W2PR95, O08836, P78318, Q2QY04, Q61249, Q9QZ29, A0A1S4D1D3, D2K8N5, Q04372, Q8LDQ4, Q9N4E9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

442 predictions. Top by Δscore:

Variant	Effect	Δscore
17:58691937:A:AC	donor_gain	1.0000
17:58691938:C:CC	donor_gain	1.0000
17:58664877:A:C	donor_gain	0.9900
17:58691938:CTTTT:C	donor_gain	0.9900
17:58691933:GCTTA:G	donor_loss	0.9800
17:58691934:CT:C	donor_loss	0.9800
17:58691935:TT:T	donor_loss	0.9800
17:58691936:TACT:T	donor_loss	0.9800
17:58691937:ACT:A	donor_loss	0.9800
17:58691938:C:CG	donor_loss	0.9800
17:58691938:CT:C	donor_gain	0.9700
17:58691938:CTT:C	donor_gain	0.9600
17:58660526:T:A	donor_gain	0.9500
17:58680168:T:A	donor_gain	0.9200
17:58660471:G:A	donor_gain	0.9100
17:58679290:C:CA	donor_gain	0.9100
17:58691938:CTTT:C	donor_gain	0.9100
17:58691990:G:C	donor_gain	0.9100
17:58691996:T:TA	donor_gain	0.9100
17:58660556:T:TA	donor_gain	0.9000
17:58660624:T:TA	donor_gain	0.9000
17:58680035:G:A	donor_gain	0.9000
17:58664887:C:CT	donor_gain	0.8800
17:58666829:T:C	donor_gain	0.8800
17:58660483:CACAG:C	donor_gain	0.8700
17:58660487:G:C	donor_gain	0.8600
17:58666905:TC:T	donor_gain	0.8600
17:58666906:CC:C	donor_gain	0.8600
17:58691988:CAGTA:C	donor_gain	0.8600
17:58691989:AGTAA:A	donor_gain	0.8600

AlphaMissense

2251 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:58660982:G:C	S206R	0.978
17:58660982:G:T	S206R	0.978
17:58660984:T:G	S206R	0.978
17:58660625:C:A	W325C	0.966
17:58660625:C:G	W325C	0.966
17:58660786:A:G	W272R	0.953
17:58660786:A:T	W272R	0.953
17:58661281:C:G	A107P	0.953
17:58660615:G:C	H329D	0.952
17:58660593:C:G	R336P	0.945
17:58661408:G:C	F64L	0.945
17:58661408:G:T	F64L	0.945
17:58661410:A:G	F64L	0.945
17:58660599:C:T	G334D	0.942
17:58661129:T:A	R157S	0.942
17:58661129:T:G	R157S	0.942
17:58661337:C:T	G88E	0.940
17:58661338:C:G	G88R	0.936
17:58661338:C:T	G88R	0.936
17:58660627:A:G	W325R	0.935
17:58660627:A:T	W325R	0.935
17:58661367:A:G	L78P	0.935
17:58661277:C:G	R108P	0.931
17:58661405:G:C	S65R	0.929
17:58661405:G:T	S65R	0.929
17:58661407:T:G	S65R	0.929
17:58661112:C:G	R163P	0.928
17:58660996:A:G	W202R	0.926
17:58660996:A:T	W202R	0.926
17:58660595:G:C	N335K	0.920

dbSNP variants (sampled 300 via entrez): RS1000074981 (17:58681575 C>G,T), RS1000113630 (17:58692732 C>A,G,T), RS1000168479 (17:58690927 C>A,G,T), RS1000216172 (17:58670203 T>A,C), RS1000294358 (17:58660130 C>A,T), RS1000369211 (17:58684584 G>A), RS1000440437 (17:58678982 C>T), RS1000440535 (17:58670565 G>C), RS1000471835 (17:58678758 G>A), RS1000688403 (17:58677090 G>A), RS1000728770 (17:58665905 C>A,T), RS1000759968 (17:58682781 A>G), RS1000784379 (17:58663571 A>G), RS1001021861 (17:58672486 T>C,G), RS1001034796 (17:58688994 G>A,C)

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.