MAPK8IP1 (mitogen-activated protein kinase 8 interacting protein 1) - Rat Genome Database

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Gene: MAPK8IP1 (mitogen-activated protein kinase 8 interacting protein 1) Homo sapiens
Analyze
Symbol: MAPK8IP1
Name: mitogen-activated protein kinase 8 interacting protein 1
RGD ID: 733615
HGNC Page HGNC:6882
Description: Enables MAP-kinase scaffold activity and kinesin binding activity. Predicted to be involved in several processes, including JNK cascade; regulation of CD8-positive, alpha-beta T cell proliferation; and regulation of JNK cascade. Predicted to act upstream of or within JUN phosphorylation; negative regulation of intrinsic apoptotic signaling pathway; and regulation of DNA-templated transcription. Located in cytoplasm and plasma membrane. Implicated in type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C-Jun-amino-terminal kinase-interacting protein 1; IB-1; IB1; islet-brain 1; JIP-1; JIP1; JNK MAP kinase scaffold protein 1; JNK-interacting protein 1; mitogen-activated protein kinase 8-interacting protein 1; PRKM8 interacting protein; PRKM8IP
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: MAPK8IP1P1   MAPK8IP1P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381145,885,651 - 45,906,465 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1145,885,651 - 45,906,465 (+)EnsemblGRCh38hg38GRCh38
GRCh371145,907,202 - 45,928,016 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361145,863,778 - 45,884,592 (+)NCBINCBI36Build 36hg18NCBI36
Build 341145,863,777 - 45,884,591NCBI
Celera1146,054,811 - 46,075,621 (+)NCBICelera
Cytogenetic Map11p11.2NCBI
HuRef1145,613,904 - 45,634,868 (+)NCBIHuRef
CHM1_11145,904,472 - 45,925,436 (+)NCBICHM1_1
T2T-CHM13v2.01146,041,587 - 46,062,395 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. IB1, a JIP-1-related nuclear protein present in insulin-secreting cells. Bonny C, etal., J Biol Chem 1998 Jan 23;273(4):1843-6.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Activated mitogen-activated protein kinase kinase 7 redistributes to the cytosol and binds to Jun N-terminal kinase-interacting protein 1 involving oxidative stress during early reperfusion in rat hippocampal CA1 region. Li CH, etal., J Neurochem. 2005 Apr;93(2):290-8.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. Regulatory mechanisms of mitogen-activated kinase signaling. Zhang Y and Dong C, Cell Mol Life Sci. 2007 Nov;64(21):2771-89.
Additional References at PubMed
PMID:8619474   PMID:9110174   PMID:9235893   PMID:9733513   PMID:9933567   PMID:10490659   PMID:10574993   PMID:10629060   PMID:10700186   PMID:10748095   PMID:10827173   PMID:10827199  
PMID:11147798   PMID:11238452   PMID:11517249   PMID:11585908   PMID:11700324   PMID:11724784   PMID:11726277   PMID:11790792   PMID:11907332   PMID:11912189   PMID:12024021   PMID:12064607  
PMID:12194869   PMID:12477932   PMID:12508107   PMID:12524447   PMID:12563035   PMID:12665528   PMID:12740599   PMID:12756254   PMID:12783873   PMID:12893827   PMID:12917434   PMID:12937412  
PMID:14507925   PMID:15138488   PMID:15868948   PMID:15894166   PMID:15911620   PMID:15998799   PMID:16169070   PMID:16273093   PMID:16301330   PMID:16343492   PMID:16456539   PMID:16533805  
PMID:16840345   PMID:17200414   PMID:17709393   PMID:17719230   PMID:18055217   PMID:18286207   PMID:18480379   PMID:18626009   PMID:19491104   PMID:19616077   PMID:20173330   PMID:20205790  
PMID:20301750   PMID:21237154   PMID:21873635   PMID:23172226   PMID:23360921   PMID:23770673   PMID:23825109   PMID:24144296   PMID:24478353   PMID:27891669   PMID:28319085   PMID:28514442  
PMID:30026235   PMID:31413325   PMID:31980649   PMID:32427938   PMID:33848645   PMID:33961781   PMID:34014261   PMID:35092815   PMID:35914814   PMID:36902422   PMID:39013462  


Genomics

Comparative Map Data
MAPK8IP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381145,885,651 - 45,906,465 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1145,885,651 - 45,906,465 (+)EnsemblGRCh38hg38GRCh38
GRCh371145,907,202 - 45,928,016 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361145,863,778 - 45,884,592 (+)NCBINCBI36Build 36hg18NCBI36
Build 341145,863,777 - 45,884,591NCBI
Celera1146,054,811 - 46,075,621 (+)NCBICelera
Cytogenetic Map11p11.2NCBI
HuRef1145,613,904 - 45,634,868 (+)NCBIHuRef
CHM1_11145,904,472 - 45,925,436 (+)NCBICHM1_1
T2T-CHM13v2.01146,041,587 - 46,062,395 (+)NCBIT2T-CHM13v2.0
Mapk8ip1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39292,214,021 - 92,231,608 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl292,214,021 - 92,231,608 (-)EnsemblGRCm39 Ensembl
GRCm38292,383,671 - 92,401,346 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl292,383,676 - 92,401,263 (-)EnsemblGRCm38mm10GRCm38
MGSCv37292,223,837 - 92,241,420 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36292,184,519 - 92,202,102 (-)NCBIMGSCv36mm8
Celera293,776,808 - 93,794,307 (-)NCBICelera
Cytogenetic Map2E1NCBI
cM Map250.99NCBI
Mapk8ip1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8398,810,540 - 98,829,302 (-)NCBIGRCr8
mRatBN7.2378,355,051 - 78,372,946 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl378,355,048 - 78,372,884 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx381,830,830 - 81,839,989 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0390,429,871 - 90,439,030 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0388,280,966 - 88,290,137 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0381,295,023 - 81,304,181 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl381,295,024 - 81,304,181 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0387,998,491 - 88,016,191 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4376,781,504 - 76,790,661 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1376,677,932 - 76,687,089 (-)NCBI
Celera377,557,046 - 77,566,196 (-)NCBICelera
Cytogenetic Map3q24NCBI
Mapk8ip1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554222,061,851 - 2,082,514 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554222,064,010 - 2,081,681 (-)NCBIChiLan1.0ChiLan1.0
MAPK8IP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2948,094,027 - 48,114,916 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11148,100,901 - 48,121,788 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01145,839,754 - 45,860,615 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11146,332,121 - 46,352,750 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1146,332,159 - 46,352,010 (+)Ensemblpanpan1.1panPan2
MAPK8IP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11843,517,186 - 43,522,603 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1843,517,677 - 43,526,379 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1842,245,214 - 42,263,683 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01844,173,152 - 44,191,616 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1844,173,163 - 44,192,012 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11843,657,404 - 43,675,863 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01843,210,353 - 43,228,830 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01843,942,641 - 43,961,111 (-)NCBIUU_Cfam_GSD_1.0
Mapk8ip1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494721,001,575 - 21,011,189 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365623,109,547 - 3,122,939 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365623,113,217 - 3,122,794 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MAPK8IP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl216,564,257 - 16,584,768 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1216,562,687 - 16,584,763 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2217,929,057 - 17,949,520 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MAPK8IP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1119,435,593 - 19,457,073 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl119,432,631 - 19,442,185 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038116,712,446 - 116,733,704 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mapk8ip1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247672,603,483 - 2,620,536 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247672,603,483 - 2,620,574 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MAPK8IP1
57 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005456.4(MAPK8IP1):c.176G>A (p.Ser59Asn) single nucleotide variant Diabetes mellitus type 2, susceptibility to [RCV000005752] Chr11:45898159 [GRCh38]
Chr11:45919710 [GRCh37]
Chr11:11p11.2
pathogenic|risk factor
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1 copy number loss See cases [RCV000052679] Chr11:35663578..46959820 [GRCh38]
Chr11:35685126..46981371 [GRCh37]
Chr11:35641702..46937947 [NCBI36]
Chr11:11p13-11.2
pathogenic
GRCh38/hg38 11p12-11.2(chr11:36508280-48643003)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|See cases [RCV000052680] Chr11:36508280..48643003 [GRCh38]
Chr11:36529830..48664555 [GRCh37]
Chr11:36486406..48621131 [NCBI36]
Chr11:11p12-11.2
pathogenic
GRCh38/hg38 11p11.2(chr11:44136593-46121139)x1 copy number loss See cases [RCV000052681] Chr11:44136593..46121139 [GRCh38]
Chr11:44158143..46142690 [GRCh37]
Chr11:44114719..46099266 [NCBI36]
Chr11:11p11.2
pathogenic
NM_005456.3(MAPK8IP1):c.1395G>T (p.Met465Ile) single nucleotide variant Malignant melanoma [RCV000062218] Chr11:45903162 [GRCh38]
Chr11:45924713 [GRCh37]
Chr11:45881289 [NCBI36]
Chr11:11p11.2
not provided
GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1 copy number loss See cases [RCV000135405] Chr11:41118322..48643003 [GRCh38]
Chr11:41139872..48664555 [GRCh37]
Chr11:41096448..48621131 [NCBI36]
Chr11:11p12-11.2
pathogenic
GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1 copy number loss See cases [RCV000137391] Chr11:39179252..49135735 [GRCh38]
Chr11:39200802..49157287 [GRCh37]
Chr11:39157378..49113863 [NCBI36]
Chr11:11p12-11.12
pathogenic
GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3 copy number gain See cases [RCV000139422] Chr11:42727555..49135735 [GRCh38]
Chr11:42749105..49157287 [GRCh37]
Chr11:42705681..49113863 [NCBI36]
Chr11:11p12-11.12
likely pathogenic
GRCh38/hg38 11p12-11.2(chr11:42553659-46114792)x1 copy number loss See cases [RCV000142289] Chr11:42553659..46114792 [GRCh38]
Chr11:42575209..46136343 [GRCh37]
Chr11:42531785..46092919 [NCBI36]
Chr11:11p12-11.2
pathogenic
GRCh37/hg19 11p12-11.2(chr11:42475897-48372559)x1 copy number loss See cases [RCV000446383] Chr11:42475897..48372559 [GRCh37]
Chr11:11p12-11.2
pathogenic
GRCh37/hg19 11p11.2(chr11:45873733-46409298)x1 copy number loss See cases [RCV000446153] Chr11:45873733..46409298 [GRCh37]
Chr11:11p11.2
likely pathogenic
GRCh37/hg19 11p14.2-11.12(chr11:26574629-50508019)x3 copy number gain See cases [RCV000448603] Chr11:26574629..50508019 [GRCh37]
Chr11:11p14.2-11.12
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_005456.4(MAPK8IP1):c.464C>T (p.Thr155Met) single nucleotide variant not specified [RCV004317588] Chr11:45900394 [GRCh38]
Chr11:45921945 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.224T>C (p.Leu75Pro) single nucleotide variant not specified [RCV004288681] Chr11:45900154 [GRCh38]
Chr11:45921705 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.1909C>T (p.His637Tyr) single nucleotide variant not specified [RCV004325418] Chr11:45904986 [GRCh38]
Chr11:45926537 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.934G>A (p.Asp312Asn) single nucleotide variant not specified [RCV004293796] Chr11:45902701 [GRCh38]
Chr11:45924252 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.781C>T (p.His261Tyr) single nucleotide variant not specified [RCV004295496] Chr11:45902548 [GRCh38]
Chr11:45924099 [GRCh37]
Chr11:11p11.2
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p11.2(chr11:45229091-46342834)x3 copy number gain not provided [RCV000750026] Chr11:45229091..46342834 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.1058G>A (p.Arg353Gln) single nucleotide variant not provided [RCV000906597] Chr11:45902825 [GRCh38]
Chr11:45924376 [GRCh37]
Chr11:11p11.2
benign
NM_005456.4(MAPK8IP1):c.1344G>A (p.Thr448=) single nucleotide variant not provided [RCV000892471] Chr11:45903111 [GRCh38]
Chr11:45924662 [GRCh37]
Chr11:11p11.2
benign
NM_005456.4(MAPK8IP1):c.19G>C (p.Gly7Arg) single nucleotide variant not specified [RCV004307279] Chr11:45885839 [GRCh38]
Chr11:45907390 [GRCh37]
Chr11:11p11.2
uncertain significance
NC_000011.10:g.(?_45805782)_(45910982_?)dup duplication Leukocyte adhesion deficiency type II [RCV001032981] Chr11:45827333..45932533 [GRCh37]
Chr11:11p11.2
uncertain significance
GRCh37/hg19 11p11.2(chr11:44266593-46123796)x4 copy number gain not provided [RCV001259092] Chr11:44266593..46123796 [GRCh37]
Chr11:11p11.2
uncertain significance
NC_000011.9:g.(?_45827353)_(47804770_?)dup duplication Leukocyte adhesion deficiency type II [RCV001296459] Chr11:45827353..47804770 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.715C>T (p.Arg239Cys) single nucleotide variant not provided [RCV001355943] Chr11:45902482 [GRCh38]
Chr11:45924033 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.236GCG[5] (p.Gly82dup) microsatellite not provided [RCV001358401] Chr11:45900164..45900165 [GRCh38]
Chr11:45921715..45921716 [GRCh37]
Chr11:11p11.2
uncertain significance
NC_000011.9:g.(?_45827353)_(45932533_?)dup duplication Peroxisome biogenesis disorder [RCV002025400] Chr11:45827353..45932533 [GRCh37]
Chr11:11p11.2
uncertain significance
GRCh37/hg19 11p12-11.2(chr11:40117145-46920718)x1 copy number loss not provided [RCV001836486] Chr11:40117145..46920718 [GRCh37]
Chr11:11p12-11.2
pathogenic
NC_000011.9:g.(?_45827353)_(46401497_?)del deletion Peroxisome biogenesis disorder [RCV001953896] Chr11:45827353..46401497 [GRCh37]
Chr11:11p11.2
pathogenic
NC_000011.9:g.(?_45827353)_(47804770_?)del deletion Leukocyte adhesion deficiency type II [RCV003119908] Chr11:45827353..47804770 [GRCh37]
Chr11:11p11.2
pathogenic
GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3 copy number gain See cases [RCV002286338] Chr11:51581311..54891247 [GRCh37]
Chr11:11p11.2-q12.2
pathogenic
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25
pathogenic
NM_005456.4(MAPK8IP1):c.1237T>C (p.Tyr413His) single nucleotide variant not specified [RCV004316901] Chr11:45903004 [GRCh38]
Chr11:45924555 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.52G>C (p.Ala18Pro) single nucleotide variant not specified [RCV004321089] Chr11:45885872 [GRCh38]
Chr11:45907423 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.32G>C (p.Gly11Ala) single nucleotide variant not specified [RCV004086743] Chr11:45885852 [GRCh38]
Chr11:45907403 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.659A>C (p.Gln220Pro) single nucleotide variant not specified [RCV004212889] Chr11:45902426 [GRCh38]
Chr11:45923977 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.1360G>A (p.Val454Ile) single nucleotide variant not specified [RCV004239204] Chr11:45903127 [GRCh38]
Chr11:45924678 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.209C>T (p.Pro70Leu) single nucleotide variant not specified [RCV004146283] Chr11:45900139 [GRCh38]
Chr11:45921690 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.227T>C (p.Leu76Pro) single nucleotide variant not specified [RCV004190970] Chr11:45900157 [GRCh38]
Chr11:45921708 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.330G>C (p.Glu110Asp) single nucleotide variant not specified [RCV004239488] Chr11:45900260 [GRCh38]
Chr11:45921811 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.1090C>T (p.Arg364Trp) single nucleotide variant not specified [RCV004082497] Chr11:45902857 [GRCh38]
Chr11:45924408 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.82G>C (p.Ala28Pro) single nucleotide variant not specified [RCV004160540] Chr11:45885902 [GRCh38]
Chr11:45907453 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.581G>A (p.Arg194Gln) single nucleotide variant not specified [RCV004112215] Chr11:45902038 [GRCh38]
Chr11:45923589 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.673C>T (p.Pro225Ser) single nucleotide variant not specified [RCV004153039] Chr11:45902440 [GRCh38]
Chr11:45923991 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.556C>T (p.His186Tyr) single nucleotide variant not specified [RCV004166104] Chr11:45902013 [GRCh38]
Chr11:45923564 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.1238A>G (p.Tyr413Cys) single nucleotide variant not specified [RCV004172601] Chr11:45903005 [GRCh38]
Chr11:45924556 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.686G>A (p.Arg229Gln) single nucleotide variant not specified [RCV004229409] Chr11:45902453 [GRCh38]
Chr11:45924004 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.1201G>A (p.Gly401Arg) single nucleotide variant not specified [RCV004082985] Chr11:45902968 [GRCh38]
Chr11:45924519 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.1081C>T (p.Pro361Ser) single nucleotide variant not specified [RCV004115908] Chr11:45902848 [GRCh38]
Chr11:45924399 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.1744G>A (p.Gly582Ser) single nucleotide variant not specified [RCV004182954] Chr11:45904532 [GRCh38]
Chr11:45926083 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.1117G>A (p.Ala373Thr) single nucleotide variant not specified [RCV004278932] Chr11:45902884 [GRCh38]
Chr11:45924435 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.713G>A (p.Arg238His) single nucleotide variant not specified [RCV004256245] Chr11:45902480 [GRCh38]
Chr11:45924031 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.658C>G (p.Gln220Glu) single nucleotide variant not specified [RCV004255297] Chr11:45902425 [GRCh38]
Chr11:45923976 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.1703G>A (p.Arg568Gln) single nucleotide variant not specified [RCV004258221] Chr11:45904491 [GRCh38]
Chr11:45926042 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.1190G>A (p.Arg397Gln) single nucleotide variant not specified [RCV004341108] Chr11:45902957 [GRCh38]
Chr11:45924508 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.1402C>T (p.Arg468Cys) single nucleotide variant not specified [RCV004341930] Chr11:45903169 [GRCh38]
Chr11:45924720 [GRCh37]
Chr11:11p11.2
uncertain significance
GRCh37/hg19 11p11.2(chr11:45804897-45930554)x3 copy number gain not provided [RCV003484839] Chr11:45804897..45930554 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.1666+5T>C single nucleotide variant Type 2 diabetes mellitus [RCV003448633] Chr11:45904166 [GRCh38]
Chr11:45925717 [GRCh37]
Chr11:11p11.2
uncertain significance
GRCh37/hg19 11p11.2(chr11:45810101-45930554)x3 copy number gain not specified [RCV003986924] Chr11:45810101..45930554 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.375G>T (p.Gly125=) single nucleotide variant MAPK8IP1-related disorder [RCV003899733] Chr11:45900305 [GRCh38]
Chr11:45921856 [GRCh37]
Chr11:11p11.2
likely benign
NM_005456.4(MAPK8IP1):c.1020G>A (p.Ser340=) single nucleotide variant MAPK8IP1-related disorder [RCV003951559] Chr11:45902787 [GRCh38]
Chr11:45924338 [GRCh37]
Chr11:11p11.2
likely benign
NM_005456.4(MAPK8IP1):c.1057C>A (p.Arg353=) single nucleotide variant MAPK8IP1-related disorder [RCV003961612] Chr11:45902824 [GRCh38]
Chr11:45924375 [GRCh37]
Chr11:11p11.2
likely benign
NM_005456.4(MAPK8IP1):c.-5C>T single nucleotide variant MAPK8IP1-related disorder [RCV003959561] Chr11:45885816 [GRCh38]
Chr11:45907367 [GRCh37]
Chr11:11p11.2
likely benign
NM_005456.4(MAPK8IP1):c.267C>T (p.Ala89=) single nucleotide variant MAPK8IP1-related disorder [RCV003893975] Chr11:45900197 [GRCh38]
Chr11:45921748 [GRCh37]
Chr11:11p11.2
likely benign
NM_005456.4(MAPK8IP1):c.1019C>T (p.Ser340Leu) single nucleotide variant not specified [RCV004408668] Chr11:45902786 [GRCh38]
Chr11:45924337 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.1064G>C (p.Ser355Thr) single nucleotide variant not specified [RCV004408669] Chr11:45902831 [GRCh38]
Chr11:45924382 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.1262C>T (p.Ser421Leu) single nucleotide variant not specified [RCV004408671] Chr11:45903029 [GRCh38]
Chr11:45924580 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.1636G>A (p.Glu546Lys) single nucleotide variant not specified [RCV004408673] Chr11:45904131 [GRCh38]
Chr11:45925682 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.1702C>T (p.Arg568Trp) single nucleotide variant not specified [RCV004408674] Chr11:45904490 [GRCh38]
Chr11:45926041 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.365C>T (p.Pro122Leu) single nucleotide variant not specified [RCV004408675] Chr11:45900295 [GRCh38]
Chr11:45921846 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.392C>G (p.Ser131Cys) single nucleotide variant not specified [RCV004408676] Chr11:45900322 [GRCh38]
Chr11:45921873 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.476A>G (p.Lys159Arg) single nucleotide variant not specified [RCV004408677] Chr11:45900406 [GRCh38]
Chr11:45921957 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.665G>A (p.Gly222Asp) single nucleotide variant not specified [RCV004408679] Chr11:45902432 [GRCh38]
Chr11:45923983 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.716G>A (p.Arg239His) single nucleotide variant not specified [RCV004408680] Chr11:45902483 [GRCh38]
Chr11:45924034 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.88C>T (p.Pro30Ser) single nucleotide variant not specified [RCV004408681] Chr11:45885908 [GRCh38]
Chr11:45907459 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.926T>C (p.Val309Ala) single nucleotide variant not specified [RCV004408682] Chr11:45902693 [GRCh38]
Chr11:45924244 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.614C>T (p.Thr205Ile) single nucleotide variant not specified [RCV004643009] Chr11:45902381 [GRCh38]
Chr11:45923932 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.785C>T (p.Ser262Leu) single nucleotide variant not specified [RCV004643015] Chr11:45902552 [GRCh38]
Chr11:45924103 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.653C>T (p.Pro218Leu) single nucleotide variant not specified [RCV004643011] Chr11:45902420 [GRCh38]
Chr11:45923971 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.1847G>A (p.Arg616Gln) single nucleotide variant not specified [RCV004643014] Chr11:45904788 [GRCh38]
Chr11:45926339 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.611A>C (p.Gln204Pro) single nucleotide variant not specified [RCV004643010] Chr11:45902378 [GRCh38]
Chr11:45923929 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.206G>A (p.Arg69Gln) single nucleotide variant not specified [RCV004636544] Chr11:45898189 [GRCh38]
Chr11:45919740 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_005456.4(MAPK8IP1):c.829G>A (p.Ala277Thr) single nucleotide variant not specified [RCV004643012] Chr11:45902596 [GRCh38]
Chr11:45924147 [GRCh37]
Chr11:11p11.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1614
Count of miRNA genes:610
Interacting mature miRNAs:717
Transcripts:ENST00000241014, ENST00000395629, ENST00000497090
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
406986897GWAS635873_Hdrug allergy, trait in response to platinum QTL GWAS635873 (human)0.000007drug allergy, trait in response to platinum114590489445904895Human
407142192GWAS791168_Hhigh density lipoprotein cholesterol measurement QTL GWAS791168 (human)3e-09high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)114589205645892057Human
407204000GWAS852976_Hglucose measurement QTL GWAS852976 (human)7e-10glucose measurementblood glucose level (CMO:0000046)114589046245890463Human
407285475GWAS934451_Hhigh density lipoprotein cholesterol measurement QTL GWAS934451 (human)2e-29high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)114589205645892057Human
407091910GWAS740886_Hbipolar I disorder QTL GWAS740886 (human)0.0000005bipolar I disorder114589244345892444Human
407158700GWAS807676_Htype 2 diabetes mellitus QTL GWAS807676 (human)4e-09type 2 diabetes mellitus114589046245890463Human
407312927GWAS961903_Hhigh density lipoprotein cholesterol measurement QTL GWAS961903 (human)1e-12high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)114589205645892057Human
406935419GWAS584395_Hhigh density lipoprotein cholesterol measurement QTL GWAS584395 (human)1e-23high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)114589205645892057Human
406988878GWAS637854_Hmean corpuscular hemoglobin concentration QTL GWAS637854 (human)3e-10mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)114589205645892057Human
407035519GWAS684495_Hprotein measurement QTL GWAS684495 (human)6e-09protein measurement114589388045893881Human
407289896GWAS938872_Hhigh density lipoprotein cholesterol measurement QTL GWAS938872 (human)4e-21high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)114589205645892057Human

Markers in Region
RH103702  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371145,928,186 - 45,928,496UniSTSGRCh37
Build 361145,884,762 - 45,885,072RGDNCBI36
Celera1146,075,791 - 46,076,101RGD
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map11p11.2UniSTS
HuRef1145,635,038 - 45,635,348UniSTS
GeneMap99-GB4 RH Map11159.69UniSTS
D11S946E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371743,678,153 - 43,678,251UniSTSGRCh37
GRCh371145,927,257 - 45,927,354UniSTSGRCh37
Build 361145,883,833 - 45,883,930RGDNCBI36
Celera1146,074,862 - 46,074,959RGD
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map11p11.2UniSTS
HuRef1739,343,291 - 39,343,389UniSTS
HuRef1145,634,109 - 45,634,206UniSTS
SHGC-144940  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371145,913,859 - 45,914,208UniSTSGRCh37
Build 361145,870,435 - 45,870,784RGDNCBI36
Celera1146,061,468 - 46,061,817RGD
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map11p11.2UniSTS
HuRef1145,620,716 - 45,621,065UniSTS
TNG Radiation Hybrid Map1122198.0UniSTS
RH78669  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371145,924,447 - 45,924,613UniSTSGRCh37
Build 361145,881,023 - 45,881,189RGDNCBI36
Celera1146,072,052 - 46,072,218RGD
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map11p11.2UniSTS
HuRef1145,631,299 - 45,631,465UniSTS
GeneMap99-GB4 RH Map11163.76UniSTS
RH64899  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map11p11.2UniSTS
GeneMap99-GB4 RH Map11168.92UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2432 2788 2245 4969 1725 2345 4 622 1927 464 2268 7262 6433 52 3734 848 1733 1612 172 1

Sequence


Ensembl Acc Id: ENST00000241014   ⟹   ENSP00000241014
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1145,885,651 - 45,906,465 (+)Ensembl
Ensembl Acc Id: ENST00000395629   ⟹   ENSP00000378991
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1145,896,550 - 45,906,465 (+)Ensembl
Ensembl Acc Id: ENST00000497090
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1145,901,933 - 45,902,743 (+)Ensembl
RefSeq Acc Id: NM_005456   ⟹   NP_005447
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381145,885,651 - 45,906,465 (+)NCBI
GRCh371145,907,047 - 45,928,016 (+)ENTREZGENE
GRCh371145,907,047 - 45,928,016 (+)NCBI
Build 361145,863,778 - 45,884,592 (+)NCBI Archive
HuRef1145,613,904 - 45,634,868 (+)ENTREZGENE
CHM1_11145,904,472 - 45,925,436 (+)NCBI
T2T-CHM13v2.01146,041,587 - 46,062,395 (+)NCBI
Sequence:
RefSeq Acc Id: NP_005447   ⟸   NM_005456
- UniProtKB: D3DQP4 (UniProtKB/Swiss-Prot),   O43407 (UniProtKB/Swiss-Prot),   Q9UQF2 (UniProtKB/Swiss-Prot),   Q6NUQ9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000241014   ⟸   ENST00000241014
Ensembl Acc Id: ENSP00000378991   ⟸   ENST00000395629
Protein Domains
PID   SH3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UQF2-F1-model_v2 AlphaFold Q9UQF2 1-711 view protein structure

Promoters
RGD ID:6789098
Promoter ID:HG_KWN:12741
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour
Transcripts:NM_005456
Position:
Human AssemblyChrPosition (strand)Source
Build 361145,863,359 - 45,863,859 (+)MPROMDB
RGD ID:6789099
Promoter ID:HG_KWN:12743
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562
Transcripts:OTTHUMT00000259406
Position:
Human AssemblyChrPosition (strand)Source
Build 361145,877,954 - 45,878,454 (+)MPROMDB
RGD ID:7220151
Promoter ID:EPDNEW_H15821
Type:initiation region
Name:MAPK8IP1_1
Description:mitogen-activated protein kinase 8 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
GRCh381145,885,642 - 45,885,702EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6882 AgrOrtholog
COSMIC MAPK8IP1 COSMIC
Ensembl Genes ENSG00000121653 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000241014 ENTREZGENE
  ENST00000241014.6 UniProtKB/Swiss-Prot
  ENST00000395629.2 UniProtKB/TrEMBL
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 Domains UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000121653 GTEx
HGNC ID HGNC:6882 ENTREZGENE
Human Proteome Map MAPK8IP1 Human Proteome Map
InterPro JIP1_scaffold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  JIP1_SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTB/PI_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9479 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9479 ENTREZGENE
OMIM 604641 OMIM
PANTHER C-JUN-AMINO-TERMINAL KINASE-INTERACTING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  JNK-INTERACTING PROTEIN 1-LIKE PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PID UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30626 PharmGKB
PROSITE PID UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50044 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D3DQP4 ENTREZGENE
  E9PBB9_HUMAN UniProtKB/TrEMBL
  JIP1_HUMAN UniProtKB/Swiss-Prot
  O43407 ENTREZGENE
  Q6NUQ9 ENTREZGENE, UniProtKB/TrEMBL
  Q9UQF2 ENTREZGENE
UniProt Secondary D3DQP4 UniProtKB/Swiss-Prot
  O43407 UniProtKB/Swiss-Prot