GADD45GIP1 (GADD45G interacting protein 1) - Rat Genome Database

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Gene: GADD45GIP1 (GADD45G interacting protein 1) Homo sapiens
Analyze
Symbol: GADD45GIP1
Name: GADD45G interacting protein 1
RGD ID: 1319487
HGNC Page HGNC:29996
Description: Predicted to enable mitochondrial ribosome binding activity. Predicted to act upstream of or within positive regulation of cell population proliferation and positive regulation of oxidative phosphorylation. Located in mitochondrion and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 39S ribosomal protein L59, mitochondrial; CKBBP2; CKbetaBP2; CKII beta binding protein 2; CKII beta-associating protein; CR6 interacting factor 1; CR6-interacting factor 1; CRIF1; growth arrest and DNA damage-inducible proteins-interacting protein 1; growth arrest and DNA-damage-inducible, gamma interacting protein 1; growth arrest- and DNA damage-inducible GADD45G-interacting protein; large ribosomal subunit protein mL64; MGC4667; MGC4758; mitochondrial large ribosomal subunit protein CRIF1; mitochondrial large ribosomal subunit protein mL64; mL64; MRP-L59; p53-responsive gene 6 protein; papillomavirus L2 interacting nuclear protein 1; papillomavirus L2-interacting nuclear protein 1; PLINP; PLINP-1; Plinp1; PRG6
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
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
GRCh381912,953,119 - 12,957,223 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1912,953,119 - 12,957,223 (-)EnsemblGRCh38hg38GRCh38
GRCh371913,063,933 - 13,068,037 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361912,925,972 - 12,929,050 (-)NCBINCBI36Build 36hg18NCBI36
Build 341912,925,971 - 12,929,050NCBI
Celera1912,954,701 - 12,957,779 (-)NCBICelera
Cytogenetic Map19p13.13NCBI
HuRef1912,636,867 - 12,639,965 (-)NCBIHuRef
CHM1_11913,065,490 - 13,068,588 (-)NCBICHM1_1
T2T-CHM13v2.01913,077,602 - 13,081,710 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. The Nrf2 regulatory network provides an interface between redox and intermediary metabolism. Hayes JD and Dinkova-Kostova AT, Trends Biochem Sci. 2014 Apr;39(4):199-218. doi: 10.1016/j.tibs.2014.02.002. Epub 2014 Mar 16.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10441517   PMID:11710515   PMID:12477932   PMID:12482659   PMID:12716909   PMID:15231747   PMID:15459248   PMID:15489334   PMID:17069992   PMID:17207965   PMID:17804717   PMID:17885209  
PMID:18200042   PMID:19305429   PMID:19801644   PMID:20098747   PMID:20186120   PMID:20427290   PMID:21145461   PMID:21832049   PMID:21873635   PMID:21911160   PMID:22446626   PMID:22939629  
PMID:23908630   PMID:24103312   PMID:24520316   PMID:24711643   PMID:24778252   PMID:24906005   PMID:25187353   PMID:25278503   PMID:25332235   PMID:25361083   PMID:25416956   PMID:25609649  
PMID:25659154   PMID:25847389   PMID:25900982   PMID:25997448   PMID:26186194   PMID:26210498   PMID:26496610   PMID:26527279   PMID:27023846   PMID:27432908   PMID:27503909   PMID:28117598  
PMID:28235567   PMID:28380382   PMID:28514442   PMID:28695742   PMID:28819452   PMID:28846114   PMID:29117863   PMID:29474366   PMID:29568061   PMID:29802200   PMID:29845934   PMID:30021884  
PMID:31182584   PMID:31548420   PMID:31586073   PMID:31753913   PMID:31806365   PMID:31871319   PMID:31964986   PMID:32060556   PMID:32296183   PMID:32382077   PMID:32877691   PMID:32989298  
PMID:33001583   PMID:33436666   PMID:33961781   PMID:34437633   PMID:34800366   PMID:35013218   PMID:35140242   PMID:35271311   PMID:35716330   PMID:35819319   PMID:35944360   PMID:36244648  
PMID:36537216   PMID:36652389   PMID:36949045   PMID:37648779   PMID:38113892   PMID:38536932   PMID:38803224  


Genomics

Comparative Map Data
GADD45GIP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381912,953,119 - 12,957,223 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1912,953,119 - 12,957,223 (-)EnsemblGRCh38hg38GRCh38
GRCh371913,063,933 - 13,068,037 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361912,925,972 - 12,929,050 (-)NCBINCBI36Build 36hg18NCBI36
Build 341912,925,971 - 12,929,050NCBI
Celera1912,954,701 - 12,957,779 (-)NCBICelera
Cytogenetic Map19p13.13NCBI
HuRef1912,636,867 - 12,639,965 (-)NCBIHuRef
CHM1_11913,065,490 - 13,068,588 (-)NCBICHM1_1
T2T-CHM13v2.01913,077,602 - 13,081,710 (-)NCBIT2T-CHM13v2.0
Gadd45gip1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39885,558,911 - 85,562,111 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl885,558,151 - 85,562,111 (+)EnsemblGRCm39 Ensembl
GRCm38884,832,282 - 84,835,482 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl884,831,522 - 84,835,482 (+)EnsemblGRCm38mm10GRCm38
MGSCv37887,356,181 - 87,359,381 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36887,722,387 - 87,725,587 (+)NCBIMGSCv36mm8
Celera889,131,201 - 89,134,616 (+)NCBICelera
Cytogenetic Map8C3NCBI
cM Map841.19NCBI
Gadd45gip1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81940,225,503 - 40,228,052 (-)NCBIGRCr8
mRatBN7.21923,320,662 - 23,323,211 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1923,320,159 - 23,323,236 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1930,143,511 - 30,146,059 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01930,797,871 - 30,800,419 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01933,020,556 - 33,023,104 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01925,946,979 - 25,949,528 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1925,946,979 - 25,949,528 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01936,922,602 - 36,925,151 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41924,976,861 - 24,979,410 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11924,982,098 - 24,984,236 (-)NCBI
Celera1922,877,527 - 22,880,076 (-)NCBICelera
Cytogenetic Map19q11NCBI
Gadd45gip1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541531,994,319 - 32,000,250 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541531,997,679 - 32,000,009 (-)NCBIChiLan1.0ChiLan1.0
GADD45GIP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22017,883,610 - 17,886,731 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11916,884,251 - 16,887,345 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01912,516,581 - 12,519,673 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11913,258,995 - 13,262,059 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1913,259,047 - 13,262,044 (-)Ensemblpanpan1.1panPan2
GADD45GIP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12049,241,956 - 49,243,838 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2049,241,962 - 49,243,837 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2049,114,216 - 49,116,085 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02049,758,834 - 49,760,703 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2049,758,827 - 49,760,702 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12048,970,030 - 48,971,899 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02049,396,516 - 49,398,385 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02049,639,056 - 49,640,925 (+)NCBIUU_Cfam_GSD_1.0
Gadd45gip1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118208,344,647 - 208,346,689 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366592,007,452 - 2,010,215 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366592,008,025 - 2,010,052 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GADD45GIP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl266,087,453 - 66,090,710 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1266,087,421 - 66,089,578 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2266,296,296 - 66,298,525 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GADD45GIP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1611,634,435 - 11,637,462 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl611,632,641 - 11,637,419 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660748,149,859 - 8,152,877 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gadd45gip1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624901523,771 - 526,448 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624901523,744 - 526,240 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GADD45GIP1
14 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 copy number gain See cases [RCV000052908] Chr19:8831147..13331227 [GRCh38]
Chr19:8941823..13442041 [GRCh37]
Chr19:8802823..13303041 [NCBI36]
Chr19:19p13.2-13.13		 likely pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3 copy number gain See cases [RCV000052909] Chr19:10315258..14048994 [GRCh38]
Chr19:10425934..14159806 [GRCh37]
Chr19:10286934..14020806 [NCBI36]
Chr19:19p13.2-13.12		 pathogenic
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 19p13.13(chr19:12850595-13290954)x3 copy number gain See cases [RCV000052911] Chr19:12850595..13290954 [GRCh38]
Chr19:12961409..13401768 [GRCh37]
Chr19:12822409..13262768 [NCBI36]
Chr19:19p13.13		 pathogenic
GRCh38/hg38 19p13.13(chr19:12813597-13119698)x3 copy number gain See cases [RCV000054144] Chr19:12813597..13119698 [GRCh38]
Chr19:12924411..13230512 [GRCh37]
Chr19:12785411..13091512 [NCBI36]
Chr19:19p13.13		 uncertain significance
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 19p13.2-13.13(chr19:11517825-13225287)x1 copy number loss See cases [RCV000053945] Chr19:11517825..13225287 [GRCh38]
Chr19:11628640..13336101 [GRCh37]
Chr19:11489640..13197101 [NCBI36]
Chr19:19p13.2-13.13		 pathogenic
NM_052850.3(GADD45GIP1):c.183C>T (p.Phe61=) single nucleotide variant Malignant melanoma [RCV000063435] Chr19:12957030 [GRCh38]
Chr19:13067844 [GRCh37]
Chr19:12928844 [NCBI36]
Chr19:19p13.13		 not provided
NM_005053.3(RAD23A):c.754C>T (p.Pro252Ser) single nucleotide variant Malignant melanoma [RCV000071939] Chr19:12949349 [GRCh38]
Chr19:13060163 [GRCh37]
Chr19:12921163 [NCBI36]
Chr19:19p13.13		 not provided
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 19p13.2-13.12(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 19p13.2-13.12(chr19:11525163-14155021)x1 copy number loss See cases [RCV000136909] Chr19:11525163..14155021 [GRCh38]
Chr19:11635978..14265833 [GRCh37]
Chr19:11496978..14126833 [NCBI36]
Chr19:19p13.2-13.12		 pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1 copy number loss See cases [RCV000141568] Chr19:10319474..13777860 [GRCh38]
Chr19:10430150..13888674 [GRCh37]
Chr19:10291150..13749674 [NCBI36]
Chr19:19p13.2-13.13		 pathogenic
GRCh37/hg19 19p13.2(chr19:12204632-13497073)x1 copy number loss See cases [RCV000449161] Chr19:12204632..13497073 [GRCh37]
Chr19:19p13.2		 pathogenic
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 19p13.2-13.12(chr19:12574343-14726197)x1 copy number loss See cases [RCV000511130] Chr19:12574343..14726197 [GRCh37]
Chr19:19p13.2-13.12		 pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3 copy number gain See cases [RCV000511013] Chr19:11608072..14543046 [GRCh37]
Chr19:19p13.2-13.12		 uncertain significance
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_052850.4(GADD45GIP1):c.361A>G (p.Ile121Val) single nucleotide variant not specified [RCV004320761] Chr19:12954516 [GRCh38]
Chr19:13065330 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_052850.4(GADD45GIP1):c.217G>A (p.Gly73Ser) single nucleotide variant not specified [RCV004321387] Chr19:12956996 [GRCh38]
Chr19:13067810 [GRCh37]
Chr19:19p13.13		 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
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_052850.4(GADD45GIP1):c.595A>G (p.Lys199Glu) single nucleotide variant not provided [RCV000893768] Chr19:12954282 [GRCh38]
Chr19:13065096 [GRCh37]
Chr19:19p13.13		 benign
NM_052850.4(GADD45GIP1):c.26G>A (p.Arg9His) single nucleotide variant not provided [RCV000845050] Chr19:12957187 [GRCh38]
Chr19:13068001 [GRCh37]
Chr19:19p13.13		 not provided
GRCh37/hg19 19p13.2(chr19:12354642-13424014)x1 copy number loss not provided [RCV000846538] Chr19:12354642..13424014 [GRCh37]
Chr19:19p13.2		 pathogenic
NC_000019.9:g.(?_11277234)_(13249220_?)dup duplication not provided [RCV003105511] Chr19:11277234..13249220 [GRCh37]
Chr19:19p13.2		 uncertain significance
NC_000019.9:g.(?_10828919)_(13482613_?)dup duplication Charcot-Marie-Tooth disease dominant intermediate B [RCV003109233]|Deficiency of alpha-mannosidase [RCV003109232]|Episodic ataxia type 2 [RCV003109234]|Glutaric aciduria, type 1 [RCV003122092] Chr19:10828919..13482613 [GRCh37]
Chr19:19p13.2		 uncertain significance
NC_000019.9:g.(?_12757434)_(13617038_?)del deletion Aicardi-Goutieres syndrome 4 [RCV004579585]|Episodic ataxia type 2 [RCV001953618]|Glutaric aciduria, type 1 [RCV001947065] Chr19:12757434..13617038 [GRCh37]
Chr19:19p13.2		 pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:12697728-14111313)x1 copy number loss not provided [RCV001834482] Chr19:12697728..14111313 [GRCh37]
Chr19:19p13.2-13.12		 pathogenic
NC_000019.9:g.(?_12757434)_(13373667_?)del deletion Aicardi-Goutieres syndrome 4 [RCV001923352]|Episodic ataxia type 2 [RCV001923351]|not provided [RCV001923353] Chr19:12757434..13373667 [GRCh37]
Chr19:19p13.2		 pathogenic|uncertain significance
NC_000019.9:g.(?_12917488)_(13205463_?)del deletion not provided [RCV002016875] Chr19:12917488..13205463 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_052850.4(GADD45GIP1):c.122A>C (p.Asp41Ala) single nucleotide variant not specified [RCV004121890] Chr19:12957091 [GRCh38]
Chr19:13067905 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_052850.4(GADD45GIP1):c.16C>G (p.Arg6Gly) single nucleotide variant not specified [RCV004087381] Chr19:12957197 [GRCh38]
Chr19:13068011 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_052850.4(GADD45GIP1):c.55G>A (p.Ala19Thr) single nucleotide variant not specified [RCV004186705] Chr19:12957158 [GRCh38]
Chr19:13067972 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_052850.4(GADD45GIP1):c.59C>T (p.Pro20Leu) single nucleotide variant not specified [RCV004073755] Chr19:12957154 [GRCh38]
Chr19:13067968 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_052850.4(GADD45GIP1):c.218G>A (p.Gly73Asp) single nucleotide variant not specified [RCV004171492] Chr19:12956995 [GRCh38]
Chr19:13067809 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_052850.4(GADD45GIP1):c.560G>A (p.Arg187His) single nucleotide variant not specified [RCV004217728] Chr19:12954317 [GRCh38]
Chr19:13065131 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_052850.4(GADD45GIP1):c.19C>G (p.Gln7Glu) single nucleotide variant not specified [RCV004351239] Chr19:12957194 [GRCh38]
Chr19:13068008 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_052850.4(GADD45GIP1):c.197C>T (p.Ala66Val) single nucleotide variant not specified [RCV004356204] Chr19:12957016 [GRCh38]
Chr19:13067830 [GRCh37]
Chr19:19p13.13		 uncertain significance
GRCh37/hg19 19p13.2(chr19:12281048-13573342)x3 copy number gain not provided [RCV003485193] Chr19:12281048..13573342 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_052850.4(GADD45GIP1):c.380A>G (p.Lys127Arg) single nucleotide variant not provided [RCV003421848] Chr19:12954497 [GRCh38]
Chr19:13065311 [GRCh37]
Chr19:19p13.13		 likely benign
GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1 copy number loss not specified [RCV003986120] Chr19:10441330..13077352 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_052850.4(GADD45GIP1):c.527A>G (p.Gln176Arg) single nucleotide variant not specified [RCV004390225] Chr19:12954350 [GRCh38]
Chr19:13065164 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_052850.4(GADD45GIP1):c.623C>T (p.Ala208Val) single nucleotide variant not specified [RCV004390226] Chr19:12954254 [GRCh38]
Chr19:13065068 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_052850.4(GADD45GIP1):c.664T>C (p.Ser222Pro) single nucleotide variant not specified [RCV004390227] Chr19:12954213 [GRCh38]
Chr19:13065027 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_052850.4(GADD45GIP1):c.290C>A (p.Ala97Glu) single nucleotide variant not specified [RCV004390223] Chr19:12956923 [GRCh38]
Chr19:13067737 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_052850.4(GADD45GIP1):c.89C>T (p.Pro30Leu) single nucleotide variant not specified [RCV004390228] Chr19:12957124 [GRCh38]
Chr19:13067938 [GRCh37]
Chr19:19p13.13		 uncertain significance
NC_000019.9:g.(?_12757434)_(13387962_?)dup duplication Episodic ataxia type 2 [RCV004581140] Chr19:12757434..13387962 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_052850.4(GADD45GIP1):c.352G>C (p.Glu118Gln) single nucleotide variant not specified [RCV004619099] Chr19:12954525 [GRCh38]
Chr19:13065339 [GRCh37]
Chr19:19p13.13		 uncertain significance
NC_000019.9:g.(?_12651855)_(13373667_?)del deletion Episodic ataxia type 2 [RCV004581135] Chr19:12651855..13373667 [GRCh37]
Chr19:19p13.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:335
Count of miRNA genes:330
Interacting mature miRNAs:335
Transcripts:ENST00000316939
Prediction methods:Miranda, Rnahybrid, Targetscan
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298499UAE1_HUrinary albumin excretion QTL 1 (human)2.730.0009Urinary albumin excretionurine albumin:creatinine ratio (ACR)19116075902Human
1300034BP50_HBlood pressure QTL 50 (human)2.10.00094Blood pressuresystolic191108946337089463Human
1643451SLIPL6_HSerum lipid level QTL 6 (human)2.190.0008Lipid level19116075902Human
1581534BP76_HBlood pressure QTL 76 (human)20.001Blood pressurepulse pressure19116075902Human
1581535BP65_HBlood pressure QTL 65 (human)3.10.001Blood pressurepulse pressure19116075902Human
2314591INSUL4_HInsulin level QTL 4 (human)3.80.000038Insulin levelfasting19116075902Human
1298476BP3_HBlood pressure QTL 3 (human)2.4Blood pressuresystolic19116075902Human

Markers in Region
WI-11591  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,064,993 - 13,065,120UniSTSGRCh37
Build 361912,925,993 - 12,926,120RGDNCBI36
Celera1912,954,722 - 12,954,849RGD
Cytogenetic Map19p13.2UniSTS
HuRef1912,636,890 - 12,637,017UniSTS
GeneMap99-GB4 RH Map1972.77UniSTS
Whitehead-RH Map1962.6UniSTS
NCBI RH Map1987.9UniSTS
RH41814  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,065,033 - 13,065,161UniSTSGRCh37
Build 361912,926,033 - 12,926,161RGDNCBI36
Celera1912,954,762 - 12,954,890RGD
Cytogenetic Map19p13.2UniSTS
HuRef1912,636,930 - 12,637,058UniSTS
GeneMap99-GB4 RH Map1971.17UniSTS
NCBI RH Map1987.9UniSTS


Sequence


Ensembl Acc Id: ENST00000316939   ⟹   ENSP00000323065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1912,953,119 - 12,957,223 (-)Ensembl
RefSeq Acc Id: NM_052850   ⟹   NP_443082
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,953,119 - 12,957,223 (-)NCBI
GRCh371913,064,970 - 13,068,068 (-)NCBI
Build 361912,925,972 - 12,929,050 (-)NCBI Archive
Celera1912,954,701 - 12,957,779 (-)RGD
HuRef1912,636,867 - 12,639,965 (-)NCBI
CHM1_11913,065,490 - 13,068,588 (-)NCBI
T2T-CHM13v2.01913,077,602 - 13,081,710 (-)NCBI
Sequence:
RefSeq Acc Id: NP_443082   ⟸   NM_052850
- UniProtKB: Q969P9 (UniProtKB/Swiss-Prot),   Q8TE51 (UniProtKB/Swiss-Prot),   Q8IVM3 (UniProtKB/Swiss-Prot),   Q9BSM6 (UniProtKB/Swiss-Prot),   Q8TAE8 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000323065   ⟸   ENST00000316939

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TAE8-F1-model_v2 AlphaFold Q8TAE8 1-222 view protein structure

Promoters
RGD ID:6811583
Promoter ID:HG_ACW:40070
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:GADD45GIP1.BAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 361912,925,776 - 12,926,276 (-)MPROMDB
RGD ID:6795590
Promoter ID:HG_KWN:29045
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_052850
Position:
Human AssemblyChrPosition (strand)Source
Build 361912,928,669 - 12,929,169 (-)MPROMDB
RGD ID:7238759
Promoter ID:EPDNEW_H25125
Type:initiation region
Name:GADD45GIP1_1
Description:GADD45G interacting protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,957,223 - 12,957,283EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29996 AgrOrtholog
COSMIC GADD45GIP1 COSMIC
Ensembl Genes ENSG00000179271 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000316939 ENTREZGENE
  ENST00000316939.3 UniProtKB/Swiss-Prot
Gene3D-CATH 6.10.280.120 UniProtKB/Swiss-Prot
GTEx ENSG00000179271 GTEx
HGNC ID HGNC:29996 ENTREZGENE
Human Proteome Map GADD45GIP1 Human Proteome Map
InterPro Damage-induce-interact_sf UniProtKB/Swiss-Prot
  Damage-induce-interacting_prot UniProtKB/Swiss-Prot
KEGG Report hsa:90480 UniProtKB/Swiss-Prot
NCBI Gene 90480 ENTREZGENE
OMIM 605162 OMIM
PANTHER GROWTH ARREST AND DNA DAMAGE-INDUCIBLE PROTEINS-INTERACTING PROTEIN 1 UniProtKB/Swiss-Prot
  PTHR31761 UniProtKB/Swiss-Prot
Pfam CR6_interact UniProtKB/Swiss-Prot
PharmGKB PA134954784 PharmGKB
UniProt G45IP_HUMAN UniProtKB/Swiss-Prot
  Q8IVM3 ENTREZGENE
  Q8TAE8 ENTREZGENE
  Q8TE51 ENTREZGENE
  Q969P9 ENTREZGENE
  Q9BSM6 ENTREZGENE
UniProt Secondary Q8IVM3 UniProtKB/Swiss-Prot
  Q8TE51 UniProtKB/Swiss-Prot
  Q969P9 UniProtKB/Swiss-Prot
  Q9BSM6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 GADD45GIP1  GADD45G interacting protein 1    growth arrest and DNA-damage-inducible, gamma interacting protein 1  Symbol and/or name change 5135510 APPROVED
2012-08-07 GADD45GIP1  growth arrest and DNA-damage-inducible, gamma interacting protein 1  GADD45GIP1  growth arrest and DNA-damage-inducible, gamma interacting protein 1  Symbol and/or name change 5135510 APPROVED