IGBP1C (IGBP1 family member C) - Rat Genome Database

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Gene: IGBP1C (IGBP1 family member C) Homo sapiens
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Symbol: IGBP1C
Name: IGBP1 family member C
RGD ID: 5683681
HGNC Page HGNC:43611
Description: Predicted to enable protein phosphatase 2A binding activity. Predicted to be involved in regulation of dephosphorylation. Predicted to be active in cytosol.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: AC011195.2; AC011195.3; hCG1642624; IGBP1P2; immunoglobulin (CD79A) binding protein 1 family member C; immunoglobulin (CD79A) binding protein 1 pseudogene 2; immunoglobulin-binding protein 1 family member C; novel protein similar to immunoglobulin (CD79A) binding protein 1 IGBP1
RGD Orthologs
Bonobo
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381758,660,424 - 58,692,045 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1758,660,424 - 58,692,045 (-)EnsemblGRCh38hg38GRCh38
GRCh371756,737,785 - 56,769,406 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361754,092,937 - 54,124,391 (-)NCBINCBI36Build 36hg18NCBI36
Celera1753,198,801 - 53,200,757 (-)NCBICelera
Cytogenetic Map17q22NCBI
HuRef1752,097,046 - 52,098,954 (-)NCBIHuRef
CHM1_11756,802,554 - 56,804,510 (-)NCBICHM1_1
T2T-CHM13v2.01759,528,282 - 59,559,911 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (IBA)

Molecular Function

References
Additional References at PubMed
PMID:11181995   PMID:21873635  


Genomics

Comparative Map Data
IGBP1C
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381758,660,424 - 58,692,045 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1758,660,424 - 58,692,045 (-)EnsemblGRCh38hg38GRCh38
GRCh371756,737,785 - 56,769,406 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361754,092,937 - 54,124,391 (-)NCBINCBI36Build 36hg18NCBI36
Celera1753,198,801 - 53,200,757 (-)NCBICelera
Cytogenetic Map17q22NCBI
HuRef1752,097,046 - 52,098,954 (-)NCBIHuRef
CHM1_11756,802,554 - 56,804,510 (-)NCBICHM1_1
T2T-CHM13v2.01759,528,282 - 59,559,911 (-)NCBIT2T-CHM13v2.0
IGBP1C
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21974,832,832 - 74,864,659 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11779,644,292 - 79,676,110 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01752,737,351 - 52,768,860 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11757,589,832 - 57,620,965 (-)NCBIpanpan1.1PanPan1.1panPan2

Variants

.
Variants in IGBP1C
3 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)x1 copy number loss See cases [RCV000140211] Chr17:57418806..59735464 [GRCh38]
Chr17:55496167..57812825 [GRCh37]
Chr17:52851166..55167607 [NCBI36]
Chr17:17q22-23.1		 pathogenic
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2		 pathogenic

QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406954529GWAS603505_HDNA repair protein RAD51 homolog 4 measurement QTL GWAS603505 (human)2e-12DNA repair protein RAD51 homolog 4 measurement175868226258682268Human
407214740GWAS863716_Htype 2 diabetes mellitus QTL GWAS863716 (human)2e-08type 2 diabetes mellitus175868022358680224Human
407203207GWAS852183_Hglomerular filtration rate QTL GWAS852183 (human)2e-08glomerular filtration rateglomerular filtration rate (CMO:0000490)175867786258677863Human
407210940GWAS859916_Hneutrophil count QTL GWAS859916 (human)1e-15neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)175867468258674683Human
407214696GWAS863672_Hleukocyte count QTL GWAS863672 (human)7e-09leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)175867468258674683Human
407110185GWAS759161_Hglomerular filtration rate QTL GWAS759161 (human)1e-10glomerular filtration rateglomerular filtration rate (CMO:0000490)175867786258677863Human

Markers in Region
SHGC-173542  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371756,752,797 - 56,753,138UniSTSGRCh37
Build 361754,107,796 - 54,108,137RGDNCBI36
Celera1753,214,550 - 53,214,891RGD
Cytogenetic Map17q22UniSTS
HuRef1752,113,291 - 52,113,632UniSTS
TNG Radiation Hybrid Map1725546.0UniSTS
PMC310730P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371756,739,755 - 56,739,838UniSTSGRCh37
Build 361754,094,754 - 54,094,837RGDNCBI36
Celera1753,201,501 - 53,201,576RGD
Cytogenetic Map17q22UniSTS
HuRef1752,100,374 - 52,100,449UniSTS


Expression

RNA-SEQ Expression


Sequence


Ensembl Acc Id: ENST00000583666   ⟹   ENSP00000492384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1758,660,424 - 58,692,045 (-)Ensembl
RefSeq Acc Id: NM_001395966   ⟹   NP_001382895
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,660,424 - 58,692,045 (-)NCBI
T2T-CHM13v2.01759,528,282 - 59,559,911 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001382895 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A0A1W2PR95 (Get FASTA)   NCBI Sequence Viewer  
  EAW94435 (Get FASTA)   NCBI Sequence Viewer  
  EAW94436 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000492384
  ENSP00000492384.1
RefSeq Acc Id: NP_001382895   ⟸   NM_001395966
- UniProtKB: A0A1W2PR95 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000492384   ⟸   ENST00000583666

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A0A1W2PR95-F1-model_v2 AlphaFold A0A1W2PR95 1-340 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:43611 AgrOrtholog
COSMIC IGBP1C COSMIC
Ensembl Genes ENSG00000266826 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000583666 ENTREZGENE
  ENST00000583666.3 UniProtKB/Swiss-Prot
Gene3D-CATH 6.10.250.1140 UniProtKB/Swiss-Prot
  TAP42-like family UniProtKB/Swiss-Prot
GTEx ENSG00000266826 GTEx
HGNC ID HGNC:43611 ENTREZGENE
Human Proteome Map IGBP1C Human Proteome Map
InterPro TAP42/TAP46-like_sf UniProtKB/Swiss-Prot
  TAP46-like UniProtKB/Swiss-Prot
NCBI Gene IGBP1P2 ENTREZGENE
PANTHER HCG1642624, ISOFORM CRA_A UniProtKB/Swiss-Prot
  IMMUNOGLOBULIN-BINDING PROTEIN 1 UniProtKB/Swiss-Prot
Pfam TAP42 UniProtKB/Swiss-Prot
PharmGKB PA166351924 PharmGKB
UniProt A0A1W2PR95 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-04-03 IGBP1C  IGBP1 family member C  IGBP1C  immunoglobulin (CD79A) binding protein 1 family member C  Symbol and/or name change 19259463 PROVISIONAL
2022-09-26 IGBP1C  immunoglobulin (CD79A) binding protein 1 family member C  IGBP1P2  immunoglobulin (CD79A) binding protein 1 pseudogene 2  Symbol and/or name change 19259463 PROVISIONAL
2022-06-07 IGBP1P2  immunoglobulin (CD79A) binding protein 1 pseudogene 2  AC011195.2  novel protein similar to immunoglobulin (CD79A) binding protein 1 IGBP1  Data merged from RGD:16564311 737654 PROVISIONAL
2020-08-20 AC011195.2  novel protein similar to immunoglobulin (CD79A) binding protein 1 IGBP1  AC011195.3  novel protein similar to immunoglobulin (CD79A) binding protein 1 IGBP1  Symbol and/or name change 19259462 PROVISIONAL
2020-02-07 AC011195.3  novel protein similar to immunoglobulin (CD79A) binding protein 1 IGBP1  AC011195.2  novel protein similar to immunoglobulin (CD79A) binding protein 1 IGBP1  Symbol and/or name change 19259462 PROVISIONAL