GIPC1 (GIPC PDZ domain containing family member 1) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: GIPC1 (GIPC PDZ domain containing family member 1) Homo sapiens
Analyze
Symbol: GIPC1
Name: GIPC PDZ domain containing family member 1
RGD ID: 733913
HGNC Page HGNC:1226
Description: Enables signaling receptor binding activity. Involved in positive regulation of cytokinesis and positive regulation of melanin biosynthetic process. Located in cell cortex and cytoplasmic vesicle. Implicated in oculopharyngodistal myopathy 2.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C19orf3; GAIP C-terminus-interacting protein; GIPC; GIPC PDZ domain containing family, member 1; GLUT1 C-terminal binding protein; GLUT1CBP; Hs.6454; IGF-1 receptor interacting protein 1; IIP-1; MGC15889; MGC3774; NIP; OPDM2; PDZ domain-containing protein GIPC1; regulator of g-protein signaling 19 interacting protein 1; regulator of G-protein signalling 19 interacting protein 1; RGS-GAIP-interacting protein; RGS19-interacting protein 1; RGS19IP1; SEMCAP; SYNECTIIN; SYNECTIN; tax interaction protein 2; TIP-2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
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
GRCh381914,477,762 - 14,496,127 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1914,477,760 - 14,496,149 (-)EnsemblGRCh38hg38GRCh38
GRCh371914,588,574 - 14,606,939 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361914,449,571 - 14,467,944 (-)NCBINCBI36Build 36hg18NCBI36
Build 341914,449,571 - 14,467,944NCBI
Celera1914,482,692 - 14,501,043 (-)NCBICelera
Cytogenetic Map19p13.12NCBI
HuRef1914,158,686 - 14,177,001 (-)NCBIHuRef
CHM1_11914,588,560 - 14,606,924 (-)NCBICHM1_1
T2T-CHM13v2.01914,604,395 - 14,622,744 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal morphology of musculature of pharynx  (IAGP)
Abnormality of facial musculature  (IAGP)
Abnormality of masseter muscle  (IAGP)
Abnormality of orbicularis oris muscle  (IAGP)
Areflexia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bowing of the vocal cords  (IAGP)
Bulbar palsy  (IAGP)
Difficulty in tongue movements  (IAGP)
Difficulty walking  (IAGP)
Distal lower limb amyotrophy  (IAGP)
Distal lower limb muscle weakness  (IAGP)
Distal muscle weakness  (IAGP)
Distal upper limb amyotrophy  (IAGP)
Distal upper limb muscle weakness  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
EMG: myopathic abnormalities  (IAGP)
External ophthalmoplegia  (IAGP)
Fatigable weakness of bulbar muscles  (IAGP)
Fatty replacement of skeletal muscle  (IAGP)
Foot dorsiflexor weakness  (IAGP)
High palate  (IAGP)
High, narrow palate  (IAGP)
Impaired oropharyngeal swallow response  (IAGP)
Increased endomysial connective tissue  (IAGP)
Increased variability in muscle fiber diameter  (IAGP)
Loss of ambulation  (IAGP)
Myopathic facies  (IAGP)
Nasal dysarthria  (IAGP)
Ophthalmoparesis  (IAGP)
Oral-pharyngeal dysphagia  (IAGP)
Paraplegia  (IAGP)
Progressive distal muscle weakness  (IAGP)
Progressive external ophthalmoplegia  (IAGP)
Progressive proximal muscle weakness  (IAGP)
Progressive ptosis  (IAGP)
Progressive sensorineural hearing impairment  (IAGP)
Proximal muscle weakness in upper limbs  (IAGP)
Ptosis  (IAGP)
Recurrent aspiration pneumonia  (IAGP)
Respiratory insufficiency due to muscle weakness  (IAGP)
Restrictive ventilatory defect  (IAGP)
Rimmed vacuoles  (IAGP)
Tibialis muscle weakness  (IAGP)
Vocal cord paresis  (IAGP)
Weakness of facial musculature  (IAGP)
Weight loss  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GIPC, a PDZ domain containing protein, interacts specifically with the C terminus of RGS-GAIP. De Vries L, etal., Proc Natl Acad Sci U S A 1998 Oct 13;95(21):12340-5.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8895530   PMID:8986788   PMID:9482110   PMID:10198040   PMID:10318831   PMID:10414980   PMID:10827173   PMID:10911369   PMID:10965131   PMID:11251075   PMID:11441007   PMID:11445579  
PMID:11479315   PMID:11546783   PMID:11798178   PMID:11852236   PMID:11912251   PMID:11956658   PMID:12011974   PMID:12477932   PMID:12508107   PMID:12724327   PMID:12857860   PMID:12893809  
PMID:14499480   PMID:14507927   PMID:14617818   PMID:14702039   PMID:15231747   PMID:15304335   PMID:15356268   PMID:15459234   PMID:15489334   PMID:15767424   PMID:15819698   PMID:15978582  
PMID:16225848   PMID:16240642   PMID:16316992   PMID:16341674   PMID:16908842   PMID:16962991   PMID:17353931   PMID:18314626   PMID:18330356   PMID:18721484   PMID:18721486   PMID:18775991  
PMID:19016655   PMID:19056867   PMID:19855435   PMID:19913121   PMID:19946888   PMID:20091192   PMID:20628086   PMID:20634288   PMID:21047775   PMID:21209904   PMID:21247498   PMID:21291857  
PMID:21432940   PMID:21900206   PMID:22082268   PMID:22593212   PMID:22888021   PMID:22939629   PMID:23128896   PMID:23145131   PMID:23376485   PMID:24163370   PMID:24999758   PMID:25468996  
PMID:25469510   PMID:26344197   PMID:26757732   PMID:26760575   PMID:26787837   PMID:26831064   PMID:26971995   PMID:27481513   PMID:29117863   PMID:29467281   PMID:29509190   PMID:29560723  
PMID:29755126   PMID:31067453   PMID:31091453   PMID:31527615   PMID:31536960   PMID:31586073   PMID:31664117   PMID:31871319   PMID:32203420   PMID:32296183   PMID:32413282   PMID:32416067  
PMID:32447051   PMID:32513696   PMID:32687490   PMID:32780723   PMID:33060197   PMID:33194618   PMID:33545068   PMID:33761321   PMID:33864728   PMID:33961781   PMID:34079125   PMID:34315543  
PMID:34316702   PMID:34349018   PMID:34857952   PMID:35013218   PMID:35152460   PMID:35182466   PMID:35256949   PMID:35271311   PMID:35446349   PMID:35696571   PMID:35831314   PMID:35896951  
PMID:35914814   PMID:35987950   PMID:36215168   PMID:37550168  


Genomics

Comparative Map Data
GIPC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381914,477,762 - 14,496,127 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1914,477,760 - 14,496,149 (-)EnsemblGRCh38hg38GRCh38
GRCh371914,588,574 - 14,606,939 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361914,449,571 - 14,467,944 (-)NCBINCBI36Build 36hg18NCBI36
Build 341914,449,571 - 14,467,944NCBI
Celera1914,482,692 - 14,501,043 (-)NCBICelera
Cytogenetic Map19p13.12NCBI
HuRef1914,158,686 - 14,177,001 (-)NCBIHuRef
CHM1_11914,588,560 - 14,606,924 (-)NCBICHM1_1
T2T-CHM13v2.01914,604,395 - 14,622,744 (-)NCBIT2T-CHM13v2.0
Gipc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39884,376,037 - 84,391,418 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl884,379,306 - 84,391,323 (+)EnsemblGRCm39 Ensembl
GRCm38883,649,408 - 83,664,789 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl883,652,677 - 83,664,694 (+)EnsemblGRCm38mm10GRCm38
MGSCv37886,176,577 - 86,188,688 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36886,542,783 - 86,554,894 (+)NCBIMGSCv36mm8
Celera887,943,499 - 87,955,588 (+)NCBICelera
Cytogenetic Map8C2NCBI
cM Map840.22NCBI
Gipc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81941,380,125 - 41,392,078 (-)NCBIGRCr8
mRatBN7.21924,474,291 - 24,487,083 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1924,453,123 - 24,486,997 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1931,296,524 - 31,300,339 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01931,950,945 - 31,954,760 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01934,173,772 - 34,177,589 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01924,786,604 - 24,798,231 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1924,786,628 - 24,798,233 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01935,765,772 - 35,778,495 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41926,165,658 - 26,177,206 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11926,170,483 - 26,174,300 (-)NCBI
Celera1924,018,366 - 24,029,872 (-)NCBICelera
Cytogenetic Map19q11NCBI
Gipc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541533,067,689 - 33,074,730 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541533,067,689 - 33,077,749 (-)NCBIChiLan1.0ChiLan1.0
GIPC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22019,407,561 - 19,425,899 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11918,409,821 - 18,428,123 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01914,041,192 - 14,059,402 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11914,884,529 - 14,897,247 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1914,885,185 - 14,889,701 (-)Ensemblpanpan1.1panPan2
GIPC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12048,144,076 - 48,155,069 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2048,150,498 - 48,157,191 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2048,020,555 - 48,030,681 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02048,660,996 - 48,673,506 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2048,661,602 - 48,678,490 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12047,874,912 - 47,885,049 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02048,301,291 - 48,311,404 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02048,544,132 - 48,554,244 (+)NCBIUU_Cfam_GSD_1.0
Gipc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118207,324,418 - 207,334,872 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366593,012,012 - 3,026,883 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366593,019,829 - 3,030,280 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GIPC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl264,780,442 - 64,794,919 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1264,780,447 - 64,794,922 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2265,158,635 - 65,174,711 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GIPC1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1613,136,647 - 13,155,259 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl613,136,624 - 13,142,002 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660746,500,986 - 6,519,302 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in GIPC1
21 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3 copy number gain See cases [RCV000052910] Chr19:12132052..14751798 [GRCh38]
Chr19:12242867..14862610 [GRCh37]
Chr19:12103867..14723610 [NCBI36]
Chr19:19p13.2-13.12		 pathogenic
GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3 copy number gain See cases [RCV000052912] Chr19:13974677..27839676 [GRCh38]
Chr19:14085489..28330584 [GRCh37]
Chr19:13946489..33022424 [NCBI36]
Chr19:19p13.12-q11		 pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:11227942-14532135)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|See cases [RCV000053944] Chr19:11227942..14532135 [GRCh38]
Chr19:11338618..14642947 [GRCh37]
Chr19:11199618..14503947 [NCBI36]
Chr19:19p13.2-13.12		 pathogenic
GRCh38/hg38 19p13.12(chr19:14477761-15133653)x3 copy number gain See cases [RCV000133793] Chr19:14477761..15133653 [GRCh38]
Chr19:14588573..15244464 [GRCh37]
Chr19:14449573..15105464 [NCBI36]
Chr19:19p13.12		 uncertain significance
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1 copy number loss See cases [RCV000134176] Chr19:14154962..16914313 [GRCh38]
Chr19:14265774..17025123 [GRCh37]
Chr19:14126774..16886123 [NCBI36]
Chr19:19p13.12-13.11		 pathogenic
GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1 copy number loss See cases [RCV000136502] Chr19:13533925..15371089 [GRCh38]
Chr19:13644739..15481900 [GRCh37]
Chr19:13505739..15342900 [NCBI36]
Chr19:19p13.13-13.12		 pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1 copy number loss See cases [RCV000135937] Chr19:12580427..14742673 [GRCh38]
Chr19:12691241..14853485 [GRCh37]
Chr19:12552241..14714485 [NCBI36]
Chr19:19p13.2-13.12		 pathogenic|likely pathogenic
GRCh38/hg38 19p13.12(chr19:14406909-15410770)x1 copy number loss See cases [RCV000136896] Chr19:14406909..15410770 [GRCh38]
Chr19:14517721..15521581 [GRCh37]
Chr19:14378721..15382581 [NCBI36]
Chr19:19p13.12		 uncertain significance
GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426) copy number gain See cases [RCV000446985] Chr19:9678768..14853426 [GRCh37]
Chr19:19p13.2-13.12		 pathogenic
GRCh37/hg19 19p13.12-13.11(chr19:14124666-16431349)x1 copy number loss See cases [RCV000448818] Chr19:14124666..16431349 [GRCh37]
Chr19:19p13.12-13.11		 pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:13592592-14717528)x1 copy number loss See cases [RCV000511445] Chr19:13592592..14717528 [GRCh37]
Chr19:19p13.2-13.12		 likely pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1 copy number loss See cases [RCV000511130] Chr19:12574343..14726197 [GRCh37]
Chr19:19p13.2-13.12		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_005716.4(GIPC1):c.676G>A (p.Ala226Thr) single nucleotide variant not specified [RCV004300266] Chr19:14479504 [GRCh38]
Chr19:14590316 [GRCh37]
Chr19:19p13.12		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_005716.4(GIPC1):c.644G>T (p.Arg215Leu) single nucleotide variant not specified [RCV004294988] Chr19:14480316 [GRCh38]
Chr19:14591128 [GRCh37]
Chr19:19p13.12		 uncertain significance
NM_005716.4(GIPC1):c.991G>A (p.Gly331Ser) single nucleotide variant not specified [RCV004314550] Chr19:14478427 [GRCh38]
Chr19:14589239 [GRCh37]
Chr19:19p13.12		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_005716.4(GIPC1):c.677C>T (p.Ala226Val) single nucleotide variant not provided [RCV000964437] Chr19:14479503 [GRCh38]
Chr19:14590315 [GRCh37]
Chr19:19p13.12		 benign|likely benign
GRCh37/hg19 19p13.12(chr19:14368330-15712368)x1 copy number loss not provided [RCV001007034] Chr19:14368330..15712368 [GRCh37]
Chr19:19p13.12		 pathogenic
NM_005716.4(GIPC1):c.691G>A (p.Gly231Ser) single nucleotide variant not specified [RCV004299370] Chr19:14479489 [GRCh38]
Chr19:14590301 [GRCh37]
Chr19:19p13.12		 uncertain significance
NM_005716.4(GIPC1):c.743G>A (p.Arg248Gln) single nucleotide variant not specified [RCV004328401] Chr19:14479437 [GRCh38]
Chr19:14590249 [GRCh37]
Chr19:19p13.12		 uncertain significance
NM_005716.4(GIPC1):c.476G>A (p.Arg159His) single nucleotide variant not provided [RCV000996806] Chr19:14480484 [GRCh38]
Chr19:14591296 [GRCh37]
Chr19:19p13.12		 uncertain significance
NM_005716.4:c.-211GGC[(73_?)] microsatellite Oculopharyngodistal myopathy 2 [RCV001248857] Chr19:19p13.12 pathogenic
GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3 copy number gain not provided [RCV001259370] Chr19:14286624..20956753 [GRCh37]
Chr19:19p13.12-12		 pathogenic
GRCh37/hg19 19p13.12-13.11(chr19:14124666-16431349) copy number loss not specified [RCV002052675] Chr19:14124666..16431349 [GRCh37]
Chr19:19p13.12-13.11		 pathogenic
NM_005716.4(GIPC1):c.318A>C (p.Lys106Asn) single nucleotide variant not specified [RCV004098739] Chr19:14480749 [GRCh38]
Chr19:14591561 [GRCh37]
Chr19:19p13.12		 uncertain significance
NM_005716.4(GIPC1):c.712A>C (p.Thr238Pro) single nucleotide variant not specified [RCV004233932] Chr19:14479468 [GRCh38]
Chr19:14590280 [GRCh37]
Chr19:19p13.12		 uncertain significance
NM_005716.4(GIPC1):c.421G>A (p.Asp141Asn) single nucleotide variant not specified [RCV004096988] Chr19:14480646 [GRCh38]
Chr19:14591458 [GRCh37]
Chr19:19p13.12		 uncertain significance
NM_005716.4(GIPC1):c.842C>T (p.Thr281Met) single nucleotide variant not specified [RCV004076357] Chr19:14478692 [GRCh38]
Chr19:14589504 [GRCh37]
Chr19:19p13.12		 uncertain significance
NM_005716.4(GIPC1):c.119C>T (p.Ser40Leu) single nucleotide variant not specified [RCV004203943] Chr19:14482858 [GRCh38]
Chr19:14593670 [GRCh37]
Chr19:19p13.12		 uncertain significance
NM_005716.4(GIPC1):c.20G>A (p.Arg7Gln) single nucleotide variant not specified [RCV004223562] Chr19:14482957 [GRCh38]
Chr19:14593769 [GRCh37]
Chr19:19p13.12		 uncertain significance
NM_005716.4(GIPC1):c.262G>A (p.Glu88Lys) single nucleotide variant not specified [RCV004094935] Chr19:14482715 [GRCh38]
Chr19:14593527 [GRCh37]
Chr19:19p13.12		 uncertain significance
NM_005716.4(GIPC1):c.998A>G (p.Tyr333Cys) single nucleotide variant not specified [RCV004176260] Chr19:14478420 [GRCh38]
Chr19:14589232 [GRCh37]
Chr19:19p13.12		 uncertain significance
NM_005716.4(GIPC1):c.719G>A (p.Arg240Gln) single nucleotide variant not specified [RCV004261289] Chr19:14479461 [GRCh38]
Chr19:14590273 [GRCh37]
Chr19:19p13.12		 uncertain significance
NM_005716.4(GIPC1):c.135G>A (p.Met45Ile) single nucleotide variant not specified [RCV004345536] Chr19:14482842 [GRCh38]
Chr19:14593654 [GRCh37]
Chr19:19p13.12		 uncertain significance
NM_005716.4(GIPC1):c.232A>G (p.Asn78Asp) single nucleotide variant not specified [RCV004356206] Chr19:14482745 [GRCh38]
Chr19:14593557 [GRCh37]
Chr19:19p13.12		 uncertain significance
NM_005716.4(GIPC1):c.324C>A (p.Asp108Glu) single nucleotide variant not specified [RCV004342258] Chr19:14480743 [GRCh38]
Chr19:14591555 [GRCh37]
Chr19:19p13.12		 uncertain significance
NM_005716.4(GIPC1):c.69C>T (p.Gly23=) single nucleotide variant not provided [RCV003421870] Chr19:14482908 [GRCh38]
Chr19:14593720 [GRCh37]
Chr19:19p13.12		 likely benign
GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3 copy number gain not specified [RCV003986122] Chr19:13970692..18139376 [GRCh37]
Chr19:19p13.13-13.11		 uncertain significance
NM_005716.4(GIPC1):c.280A>G (p.Thr94Ala) single nucleotide variant not specified [RCV004390711] Chr19:14482697 [GRCh38]
Chr19:14593509 [GRCh37]
Chr19:19p13.12		 likely benign
NM_005716.4(GIPC1):c.733C>T (p.Leu245Phe) single nucleotide variant not specified [RCV004390717] Chr19:14479447 [GRCh38]
Chr19:14590259 [GRCh37]
Chr19:19p13.12		 uncertain significance
NM_005716.4(GIPC1):c.22C>T (p.Arg8Trp) single nucleotide variant not specified [RCV004390710] Chr19:14482955 [GRCh38]
Chr19:14593767 [GRCh37]
Chr19:19p13.12		 uncertain significance
NM_005716.4(GIPC1):c.329A>G (p.Asp110Gly) single nucleotide variant not specified [RCV004390712] Chr19:14480738 [GRCh38]
Chr19:14591550 [GRCh37]
Chr19:19p13.12		 uncertain significance
NM_005716.4(GIPC1):c.344G>A (p.Gly115Asp) single nucleotide variant not specified [RCV004390713] Chr19:14480723 [GRCh38]
Chr19:14591535 [GRCh37]
Chr19:19p13.12		 uncertain significance
NM_005716.4(GIPC1):c.665G>A (p.Ser222Asn) single nucleotide variant not specified [RCV004390716] Chr19:14479515 [GRCh38]
Chr19:14590327 [GRCh37]
Chr19:19p13.12		 uncertain significance
NM_005716.4(GIPC1):c.109G>A (p.Gly37Arg) single nucleotide variant not specified [RCV004390709] Chr19:14482868 [GRCh38]
Chr19:14593680 [GRCh37]
Chr19:19p13.12		 uncertain significance
NM_005716.4(GIPC1):c.449A>G (p.Asn150Ser) single nucleotide variant not specified [RCV004390714] Chr19:14480618 [GRCh38]
Chr19:14591430 [GRCh37]
Chr19:19p13.12		 uncertain significance
NM_005716.4(GIPC1):c.502C>G (p.His168Asp) single nucleotide variant not specified [RCV004390715] Chr19:14480458 [GRCh38]
Chr19:14591270 [GRCh37]
Chr19:19p13.12		 uncertain significance
NM_005716.4(GIPC1):c.742C>T (p.Arg248Trp) single nucleotide variant not specified [RCV004390718] Chr19:14479438 [GRCh38]
Chr19:14590250 [GRCh37]
Chr19:19p13.12		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6001
Count of miRNA genes:917
Interacting mature miRNAs:1125
Transcripts:ENST00000345425, ENST00000393028, ENST00000393029, ENST00000393033, ENST00000585606, ENST00000586027, ENST00000587210, ENST00000587811, ENST00000587934, ENST00000587969, ENST00000589497, ENST00000589631, ENST00000591245, ENST00000591349
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
G29335  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371914,588,584 - 14,588,733UniSTSGRCh37
Build 361914,449,584 - 14,449,733RGDNCBI36
Celera1914,482,705 - 14,482,854RGD
Cytogenetic Map19p13.1UniSTS
HuRef1914,158,699 - 14,158,848UniSTS
RGS19IP1_9175  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371914,588,516 - 14,589,287UniSTSGRCh37
Build 361914,449,516 - 14,450,287RGDNCBI36
Celera1914,482,637 - 14,483,408RGD
HuRef1914,158,631 - 14,159,403UniSTS
STS-W73036  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371914,588,612 - 14,588,837UniSTSGRCh37
Build 361914,449,612 - 14,449,837RGDNCBI36
Celera1914,482,733 - 14,482,958RGD
Cytogenetic Map19p13.1UniSTS
HuRef1914,158,727 - 14,158,952UniSTS
GeneMap99-GB4 RH Map1978.1UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 5
Medium 2434 2394 1672 570 1061 412 4356 2138 3721 417 1447 1607 175 1 1204 2788 5 1
Low 5 597 54 54 880 53 1 58 13 2 8 6 1 1
Below cutoff 6 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_005716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_202468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_202469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_202470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_202494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC012318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF028824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF089816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI589363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI489862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM764000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX439219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB997520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR986168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U46448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000345425   ⟹   ENSP00000340698
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1914,477,762 - 14,496,132 (-)Ensembl
RefSeq Acc Id: ENST00000393028   ⟹   ENSP00000376748
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1914,477,760 - 14,496,149 (-)Ensembl
RefSeq Acc Id: ENST00000393033   ⟹   ENSP00000376753
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1914,477,762 - 14,496,127 (-)Ensembl
RefSeq Acc Id: ENST00000585606
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1914,477,764 - 14,480,596 (-)Ensembl
RefSeq Acc Id: ENST00000586027   ⟹   ENSP00000466747
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1914,478,246 - 14,496,132 (-)Ensembl
RefSeq Acc Id: ENST00000587210   ⟹   ENSP00000468787
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1914,479,412 - 14,496,132 (-)Ensembl
RefSeq Acc Id: ENST00000587811
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1914,481,747 - 14,483,463 (-)Ensembl
RefSeq Acc Id: ENST00000587934   ⟹   ENSP00000466624
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1914,482,856 - 14,491,743 (-)Ensembl
RefSeq Acc Id: ENST00000587969   ⟹   ENSP00000464879
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1914,480,306 - 14,480,896 (-)Ensembl
RefSeq Acc Id: ENST00000589497   ⟹   ENSP00000465003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1914,478,256 - 14,496,052 (-)Ensembl
RefSeq Acc Id: ENST00000589631   ⟹   ENSP00000466312
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1914,478,004 - 14,479,857 (-)Ensembl
RefSeq Acc Id: ENST00000591245   ⟹   ENSP00000466105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1914,482,857 - 14,483,445 (-)Ensembl
RefSeq Acc Id: ENST00000591349   ⟹   ENSP00000467077
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1914,478,246 - 14,496,132 (-)Ensembl
RefSeq Acc Id: NM_005716   ⟹   NP_005707
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381914,477,762 - 14,496,127 (-)NCBI
GRCh371914,588,571 - 14,606,961 (-)NCBI
Build 361914,449,571 - 14,467,944 (-)NCBI Archive
HuRef1914,158,686 - 14,177,001 (-)NCBI
CHM1_11914,588,560 - 14,606,924 (-)NCBI
T2T-CHM13v2.01914,604,395 - 14,622,744 (-)NCBI
Sequence:
RefSeq Acc Id: NM_202468   ⟹   NP_974197
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381914,477,762 - 14,496,127 (-)NCBI
GRCh371914,588,571 - 14,606,961 (-)NCBI
Build 361914,449,571 - 14,467,944 (-)NCBI Archive
HuRef1914,158,686 - 14,177,001 (-)NCBI
CHM1_11914,588,560 - 14,606,924 (-)NCBI
T2T-CHM13v2.01914,604,395 - 14,622,744 (-)NCBI
Sequence:
RefSeq Acc Id: NM_202469   ⟹   NP_974198
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381914,477,762 - 14,496,127 (-)NCBI
GRCh371914,588,571 - 14,606,961 (-)NCBI
Build 361914,449,571 - 14,467,944 (-)NCBI Archive
HuRef1914,158,686 - 14,177,001 (-)NCBI
CHM1_11914,588,560 - 14,606,924 (-)NCBI
T2T-CHM13v2.01914,604,395 - 14,622,744 (-)NCBI
Sequence:
RefSeq Acc Id: NM_202470   ⟹   NP_974199
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381914,477,762 - 14,496,127 (-)NCBI
GRCh371914,588,571 - 14,606,961 (-)NCBI
Build 361914,449,571 - 14,467,944 (-)NCBI Archive
HuRef1914,158,686 - 14,177,001 (-)NCBI
CHM1_11914,588,560 - 14,606,924 (-)NCBI
T2T-CHM13v2.01914,604,395 - 14,622,744 (-)NCBI
Sequence:
RefSeq Acc Id: NM_202494   ⟹   NP_974223
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381914,477,762 - 14,496,127 (-)NCBI
GRCh371914,588,571 - 14,606,961 (-)NCBI
Build 361914,449,571 - 14,467,944 (-)NCBI Archive
HuRef1914,158,686 - 14,177,001 (-)NCBI
CHM1_11914,588,560 - 14,606,924 (-)NCBI
T2T-CHM13v2.01914,604,395 - 14,622,744 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017026147   ⟹   XP_016881636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381914,477,762 - 14,492,916 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017026148   ⟹   XP_016881637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381914,477,762 - 14,496,127 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054319543   ⟹   XP_054175518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01914,604,395 - 14,619,527 (-)NCBI
Protein Sequences
Protein RefSeqs NP_005707 (Get FASTA)   NCBI Sequence Viewer  
  NP_974197 (Get FASTA)   NCBI Sequence Viewer  
  NP_974198 (Get FASTA)   NCBI Sequence Viewer  
  NP_974199 (Get FASTA)   NCBI Sequence Viewer  
  NP_974223 (Get FASTA)   NCBI Sequence Viewer  
  XP_016881636 (Get FASTA)   NCBI Sequence Viewer  
  XP_016881637 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175518 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB84249 (Get FASTA)   NCBI Sequence Viewer  
  AAC67548 (Get FASTA)   NCBI Sequence Viewer  
  AAH00410 (Get FASTA)   NCBI Sequence Viewer  
  AAH04226 (Get FASTA)   NCBI Sequence Viewer  
  AAH12810 (Get FASTA)   NCBI Sequence Viewer  
  AAH16169 (Get FASTA)   NCBI Sequence Viewer  
  BAF82941 (Get FASTA)   NCBI Sequence Viewer  
  BAF83637 (Get FASTA)   NCBI Sequence Viewer  
  EAW84423 (Get FASTA)   NCBI Sequence Viewer  
  EAW84424 (Get FASTA)   NCBI Sequence Viewer  
  EAW84425 (Get FASTA)   NCBI Sequence Viewer  
  EAW84426 (Get FASTA)   NCBI Sequence Viewer  
  EAW84427 (Get FASTA)   NCBI Sequence Viewer  
  EAW84428 (Get FASTA)   NCBI Sequence Viewer  
  EAW84429 (Get FASTA)   NCBI Sequence Viewer  
  EAW84430 (Get FASTA)   NCBI Sequence Viewer  
  EAW84431 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000340698
  ENSP00000340698.1
  ENSP00000376748
  ENSP00000376748.1
  ENSP00000376753
  ENSP00000376753.3
  ENSP00000464879.1
  ENSP00000465003.1
  ENSP00000466105.1
  ENSP00000466312.1
  ENSP00000466624.1
  ENSP00000466747
  ENSP00000466747.1
  ENSP00000467077
  ENSP00000467077.1
  ENSP00000468787.1
GenBank Protein O14908 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_974223   ⟸   NM_202494
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_974199   ⟸   NM_202470
- Peptide Label: isoform 1
- UniProtKB: Q9BTC9 (UniProtKB/Swiss-Prot),   O14908 (UniProtKB/Swiss-Prot),   A8MZG3 (UniProtKB/Swiss-Prot),   A8K4I3 (UniProtKB/Swiss-Prot),   A8K2I7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_974198   ⟸   NM_202469
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_974197   ⟸   NM_202468
- Peptide Label: isoform 1
- UniProtKB: Q9BTC9 (UniProtKB/Swiss-Prot),   O14908 (UniProtKB/Swiss-Prot),   A8MZG3 (UniProtKB/Swiss-Prot),   A8K4I3 (UniProtKB/Swiss-Prot),   A8K2I7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_005707   ⟸   NM_005716
- Peptide Label: isoform 1
- UniProtKB: Q9BTC9 (UniProtKB/Swiss-Prot),   O14908 (UniProtKB/Swiss-Prot),   A8MZG3 (UniProtKB/Swiss-Prot),   A8K4I3 (UniProtKB/Swiss-Prot),   A8K2I7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016881637   ⟸   XM_017026148
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016881636   ⟸   XM_017026147
- Peptide Label: isoform X1
- UniProtKB: Q9BTC9 (UniProtKB/Swiss-Prot),   O14908 (UniProtKB/Swiss-Prot),   A8MZG3 (UniProtKB/Swiss-Prot),   A8K4I3 (UniProtKB/Swiss-Prot),   A8K2I7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000340698   ⟸   ENST00000345425
RefSeq Acc Id: ENSP00000466747   ⟸   ENST00000586027
RefSeq Acc Id: ENSP00000468787   ⟸   ENST00000587210
RefSeq Acc Id: ENSP00000464879   ⟸   ENST00000587969
RefSeq Acc Id: ENSP00000466624   ⟸   ENST00000587934
RefSeq Acc Id: ENSP00000466312   ⟸   ENST00000589631
RefSeq Acc Id: ENSP00000465003   ⟸   ENST00000589497
RefSeq Acc Id: ENSP00000376748   ⟸   ENST00000393028
RefSeq Acc Id: ENSP00000376753   ⟸   ENST00000393033
RefSeq Acc Id: ENSP00000467077   ⟸   ENST00000591349
RefSeq Acc Id: ENSP00000466105   ⟸   ENST00000591245
RefSeq Acc Id: XP_054175518   ⟸   XM_054319543
- Peptide Label: isoform X2
Protein Domains
PDZ

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O14908-F1-model_v2 AlphaFold O14908 1-333 view protein structure

Promoters
RGD ID:6795595
Promoter ID:HG_KWN:29115
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_005716,   NM_202467,   NM_202468,   NM_202469,   NM_202470,   NM_202494
Position:
Human AssemblyChrPosition (strand)Source
Build 361914,467,841 - 14,468,382 (-)MPROMDB
RGD ID:7238841
Promoter ID:EPDNEW_H25166
Type:initiation region
Name:GIPC1_3
Description:GIPC PDZ domain containing family member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25167  EPDNEW_H25181  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381914,489,928 - 14,489,988EPDNEW
RGD ID:7238843
Promoter ID:EPDNEW_H25167
Type:initiation region
Name:GIPC1_1
Description:GIPC PDZ domain containing family member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25166  EPDNEW_H25181  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381914,496,115 - 14,496,175EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1226 AgrOrtholog
COSMIC GIPC1 COSMIC
Ensembl Genes ENSG00000123159 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000345425 ENTREZGENE
  ENST00000345425.6 UniProtKB/Swiss-Prot
  ENST00000393028 ENTREZGENE
  ENST00000393028.5 UniProtKB/Swiss-Prot
  ENST00000393033 ENTREZGENE
  ENST00000393033.9 UniProtKB/Swiss-Prot
  ENST00000586027 ENTREZGENE
  ENST00000586027.5 UniProtKB/Swiss-Prot
  ENST00000587210.1 UniProtKB/TrEMBL
  ENST00000587934.1 UniProtKB/TrEMBL
  ENST00000587969.1 UniProtKB/TrEMBL
  ENST00000589497.5 UniProtKB/TrEMBL
  ENST00000589631.5 UniProtKB/TrEMBL
  ENST00000591245.1 UniProtKB/TrEMBL
  ENST00000591349 ENTREZGENE
  ENST00000591349.5 UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.42.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000123159 GTEx
HGNC ID HGNC:1226 ENTREZGENE
Human Proteome Map GIPC1 Human Proteome Map
InterPro GIPC1/2/3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10755 UniProtKB/Swiss-Prot
NCBI Gene 10755 ENTREZGENE
OMIM 605072 OMIM
PANTHER PDZ DOMAIN-CONTAINING PROTEIN GIPC1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12259 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34371 PharmGKB
PIRSF UCP038083_GIPC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50156 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K2I7 ENTREZGENE, UniProtKB/TrEMBL
  A8K4I3 ENTREZGENE
  A8MZG3 ENTREZGENE
  GIPC1_HUMAN UniProtKB/Swiss-Prot
  K7EIT0_HUMAN UniProtKB/TrEMBL
  K7EJ33_HUMAN UniProtKB/TrEMBL
  K7ELJ2_HUMAN UniProtKB/TrEMBL
  K7EM11_HUMAN UniProtKB/TrEMBL
  K7ESN1_HUMAN UniProtKB/TrEMBL
  O14908 ENTREZGENE
  Q9BTC9 ENTREZGENE
UniProt Secondary A8K4I3 UniProtKB/Swiss-Prot
  A8MZG3 UniProtKB/Swiss-Prot
  Q9BTC9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 GIPC1  GIPC PDZ domain containing family member 1  GIPC1  GIPC PDZ domain containing family, member 1  Symbol and/or name change 5135510 APPROVED