MAIP1 (matrix AAA peptidase interacting protein 1) - Rat Genome Database

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Gene: MAIP1 (matrix AAA peptidase interacting protein 1) Homo sapiens
Analyze
Symbol: MAIP1
Name: matrix AAA peptidase interacting protein 1
RGD ID: 1603199
HGNC Page HGNC:26198
Description: Predicted to enable ribosome binding activity. Involved in calcium import into the mitochondrion; mitochondrial calcium ion homeostasis; and protein insertion into mitochondrial membrane. Located in mitochondrial matrix.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C2orf47; chromosome 2 open reading frame 47; DKFZp666A212; FLJ22555; hypothetical protein LOC79568; m-AAA protease-interacting protein 1, mitochondrial; uncharacterized protein C2orf47, mitochondrial
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
GRCh382199,955,317 - 199,964,117 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2199,955,317 - 200,008,540 (+)EnsemblGRCh38hg38GRCh38
GRCh372200,820,040 - 200,828,840 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362200,528,285 - 200,537,085 (+)NCBINCBI36Build 36hg18NCBI36
Celera2194,574,744 - 194,583,552 (+)NCBICelera
Cytogenetic Map2q33.1NCBI
HuRef2192,672,754 - 192,681,562 (+)NCBIHuRef
CHM1_12200,826,171 - 200,834,979 (+)NCBICHM1_1
T2T-CHM13v2.02200,438,942 - 200,447,744 (+)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

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:17207965   PMID:19176441   PMID:20360068   PMID:20877624   PMID:21832049   PMID:21873635   PMID:22810586   PMID:23503679   PMID:23752268   PMID:23974872   PMID:24344204  
PMID:25048349   PMID:25659154   PMID:25963833   PMID:26752685   PMID:26972000   PMID:27025967   PMID:27432908   PMID:27499296   PMID:27545878   PMID:27642048   PMID:28883622   PMID:29180619  
PMID:29229926   PMID:29509190   PMID:29564676   PMID:29656893   PMID:29777862   PMID:29955894   PMID:30022168   PMID:30166453   PMID:30455355   PMID:30833792   PMID:31091453   PMID:31182584  
PMID:31540324   PMID:31586073   PMID:31753913   PMID:31980649   PMID:32296183   PMID:32393512   PMID:32807901   PMID:33567341   PMID:33658012   PMID:33845483   PMID:34079125   PMID:34650049  
PMID:34709727   PMID:34800366   PMID:35007762   PMID:35013218   PMID:35384245   PMID:35439318   PMID:35545034   PMID:35701858   PMID:35944360   PMID:36215168   PMID:36604567   PMID:37223481  
PMID:37314216   PMID:37317656   PMID:37355744   PMID:37827155  


Genomics

Comparative Map Data
MAIP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382199,955,317 - 199,964,117 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2199,955,317 - 200,008,540 (+)EnsemblGRCh38hg38GRCh38
GRCh372200,820,040 - 200,828,840 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362200,528,285 - 200,537,085 (+)NCBINCBI36Build 36hg18NCBI36
Celera2194,574,744 - 194,583,552 (+)NCBICelera
Cytogenetic Map2q33.1NCBI
HuRef2192,672,754 - 192,681,562 (+)NCBIHuRef
CHM1_12200,826,171 - 200,834,979 (+)NCBICHM1_1
T2T-CHM13v2.02200,438,942 - 200,447,744 (+)NCBIT2T-CHM13v2.0
Maip1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39157,445,425 - 57,457,112 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl157,445,487 - 57,457,112 (+)EnsemblGRCm39 Ensembl
GRCm38157,406,266 - 57,417,953 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl157,406,328 - 57,417,953 (+)EnsemblGRCm38mm10GRCm38
MGSCv37157,463,392 - 57,472,802 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36157,350,874 - 57,362,499 (+)NCBIMGSCv36mm8
Celera157,921,292 - 57,930,705 (+)NCBICelera
Cytogenetic Map1C1.3NCBI
cM Map128.79NCBI
Maip1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8966,473,159 - 66,481,089 (+)NCBIGRCr8
mRatBN7.2958,978,901 - 58,986,831 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl958,978,716 - 58,986,829 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx967,479,868 - 67,487,796 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0972,595,798 - 72,603,726 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0970,913,865 - 70,921,793 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0964,095,978 - 64,103,908 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl964,095,978 - 64,103,907 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0963,901,497 - 63,909,427 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4956,302,284 - 56,310,215 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1956,449,265 - 56,457,196 (+)NCBI
Celera956,424,808 - 56,432,738 (+)NCBICelera
Cytogenetic Map9q31NCBI
Maip1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554031,317,670 - 1,325,758 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554031,317,853 - 1,325,931 (-)NCBIChiLan1.0ChiLan1.0
MAIP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213102,574,045 - 102,582,368 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B102,589,126 - 102,597,370 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B87,204,202 - 87,212,994 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B205,362,872 - 205,371,488 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B205,362,612 - 205,371,488 (+)Ensemblpanpan1.1panPan2
MAIP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1379,130,608 - 9,140,723 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl379,130,626 - 9,140,714 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3710,017,099 - 10,027,358 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0379,029,473 - 9,039,751 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl379,029,654 - 9,039,742 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1379,019,697 - 9,029,954 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0378,991,589 - 9,001,843 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0378,988,489 - 8,998,750 (+)NCBIUU_Cfam_GSD_1.0
Maip1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303157,109,473 - 157,119,475 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936825905,815 - 918,918 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936825908,916 - 918,112 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MAIP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15103,578,921 - 103,590,708 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115103,578,926 - 103,590,719 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215114,853,466 - 114,865,260 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MAIP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11085,455,067 - 85,463,813 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1085,454,645 - 85,464,068 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040113,932,013 - 113,984,748 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Maip1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624889966,948 - 976,346 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624889966,728 - 976,430 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1 copy number loss See cases [RCV000050980] Chr2:174898848..203941548 [GRCh38]
Chr2:175763576..204806271 [GRCh37]
Chr2:175471822..204514516 [NCBI36]
Chr2:2q31.1-33.2		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q33.1-34(chr2:198095810-211803453)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|See cases [RCV000052603] Chr2:198095810..211803453 [GRCh38]
Chr2:198960534..212668178 [GRCh37]
Chr2:198668779..212376423 [NCBI36]
Chr2:2q33.1-34		 pathogenic
GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1 copy number loss See cases [RCV000052558] Chr2:176304445..202039790 [GRCh38]
Chr2:177169173..202904513 [GRCh37]
Chr2:176877419..202612758 [NCBI36]
Chr2:2q31.1-33.1		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1 copy number loss See cases [RCV000135341] Chr2:195660594..203969488 [GRCh38]
Chr2:196525318..204834211 [GRCh37]
Chr2:196233563..204542456 [NCBI36]
Chr2:2q32.3-33.2		 pathogenic
GRCh38/hg38 2q32.3-33.1(chr2:195368551-200214331)x1 copy number loss See cases [RCV000135664] Chr2:195368551..200214331 [GRCh38]
Chr2:196233275..201079054 [GRCh37]
Chr2:195941520..200787299 [NCBI36]
Chr2:2q32.3-33.1		 pathogenic
GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1 copy number loss See cases [RCV000135665] Chr2:197400023..202089348 [GRCh38]
Chr2:198264747..202954071 [GRCh37]
Chr2:197972992..202662316 [NCBI36]
Chr2:2q33.1		 likely pathogenic
GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1 copy number loss See cases [RCV000135876] Chr2:186027472..201059372 [GRCh38]
Chr2:186892199..201924095 [GRCh37]
Chr2:186600444..201632340 [NCBI36]
Chr2:2q32.1-33.1		 pathogenic
GRCh38/hg38 2q33.1(chr2:198767347-202353840)x1 copy number loss See cases [RCV000136596] Chr2:198767347..202353840 [GRCh38]
Chr2:199632071..203218563 [GRCh37]
Chr2:199340316..202926808 [NCBI36]
Chr2:2q33.1		 pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2		 pathogenic
GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1 copy number loss See cases [RCV000141254] Chr2:192938826..215705052 [GRCh38]
Chr2:193803552..216569775 [GRCh37]
Chr2:193511797..216278020 [NCBI36]
Chr2:2q32.3-35		 pathogenic
GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1 copy number loss See cases [RCV000141076] Chr2:199946494..209985195 [GRCh38]
Chr2:200811217..210849919 [GRCh37]
Chr2:200519462..210558164 [NCBI36]
Chr2:2q33.1-34		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1 copy number loss See cases [RCV000143301] Chr2:199937273..210031924 [GRCh38]
Chr2:200801996..210896648 [GRCh37]
Chr2:200510241..210604893 [NCBI36]
Chr2:2q33.1-34		 pathogenic
GRCh37/hg19 2q33.1(chr2:200250898-201845999)x3 copy number gain Premature ovarian failure [RCV000225154] Chr2:200250898..201845999 [GRCh37]
Chr2:2q33.1		 uncertain significance
GRCh37/hg19 2q32.3-33.1(chr2:196581377-200947041)x1 copy number loss See cases [RCV000240401] Chr2:196581377..200947041 [GRCh37]
Chr2:2q32.3-33.1		 pathogenic
GRCh37/hg19 2q33.1(chr2:200776457-203070949)x3 copy number gain See cases [RCV000240410] Chr2:200776457..203070949 [GRCh37]
Chr2:2q33.1		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q32.3-33.1(chr2:194581315-201752422)x1 copy number loss See cases [RCV000446984] Chr2:194581315..201752422 [GRCh37]
Chr2:2q32.3-33.1		 pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q32.3-33.1(chr2:193537927-202027736)x1 copy number loss not provided [RCV000682162] Chr2:193537927..202027736 [GRCh37]
Chr2:2q32.3-33.1		 pathogenic
GRCh37/hg19 2q32.2-33.1(chr2:191750202-202297376)x1 copy number loss not provided [RCV000682165] Chr2:191750202..202297376 [GRCh37]
Chr2:2q32.2-33.1		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2		 pathogenic
GRCh37/hg19 2q33.1(chr2:198852970-201350417)x1 copy number loss not provided [RCV000848515] Chr2:198852970..201350417 [GRCh37]
Chr2:2q33.1		 pathogenic
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34		 pathogenic
GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1 copy number loss not provided [RCV002473800] Chr2:189909904..209468383 [GRCh37]
Chr2:2q32.2-34		 pathogenic
GRCh37/hg19 2q32.3-33.1(chr2:197359024-201383462)x1 copy number loss Chromosome 2q32-q33 deletion syndrome [RCV001263250] Chr2:197359024..201383462 [GRCh37]
Chr2:2q32.3-33.1		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q32.1-34(chr2:185697659-213002074) copy number loss Chromosome 2q32-q33 deletion syndrome [RCV002280608] Chr2:185697659..213002074 [GRCh37]
Chr2:2q32.1-34		 pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) copy number gain not specified [RCV002053265] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1		 pathogenic
GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1 copy number loss not specified [RCV003986323] Chr2:194305623..215261531 [GRCh37]
Chr2:2q32.3-34		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:552
Count of miRNA genes:361
Interacting mature miRNAs:385
Transcripts:ENST00000295079, ENST00000392290, ENST00000435773, ENST00000469156
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
406979376GWAS628352_Hschizophrenia QTL GWAS628352 (human)6e-11schizophrenia2199960517199960518Human
406975947GWAS624923_Hautism spectrum disorder, schizophrenia QTL GWAS624923 (human)3e-12autism spectrum disorder, schizophrenia2199960517199960518Human
407133897GWAS782873_Hschizophrenia QTL GWAS782873 (human)2e-14schizophrenia2199960517199960518Human

Markers in Region
RH78324  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372200,828,660 - 200,828,779UniSTSGRCh37
Build 362200,536,905 - 200,537,024RGDNCBI36
Celera2194,583,364 - 194,583,483RGD
Cytogenetic Map2q33.1UniSTS
HuRef2192,681,374 - 192,681,493UniSTS


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 2439 2788 2251 4971 1726 2351 5 622 1950 465 2268 7301 6467 52 3734 851 1742 1617 175 1

Sequence


Ensembl Acc Id: ENST00000295079   ⟹   ENSP00000295079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2199,955,317 - 199,964,108 (+)Ensembl
Ensembl Acc Id: ENST00000392290   ⟹   ENSP00000376111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2199,955,582 - 199,964,117 (+)Ensembl
Ensembl Acc Id: ENST00000435773   ⟹   ENSP00000396846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2199,955,821 - 200,008,540 (+)Ensembl
Ensembl Acc Id: ENST00000469156
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2199,959,266 - 199,963,836 (+)Ensembl
RefSeq Acc Id: NM_001369399   ⟹   NP_001356328
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382199,955,317 - 199,964,117 (+)NCBI
T2T-CHM13v2.02200,438,942 - 200,447,744 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001394955   ⟹   NP_001381884
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382199,955,582 - 199,964,117 (+)NCBI
T2T-CHM13v2.02200,439,207 - 200,447,744 (+)NCBI
Sequence:
RefSeq Acc Id: NM_024520   ⟹   NP_078796
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382199,955,317 - 199,964,117 (+)NCBI
GRCh372200,820,040 - 200,828,848 (+)RGD
Build 362200,528,285 - 200,537,085 (+)NCBI Archive
Celera2194,574,744 - 194,583,552 (+)RGD
HuRef2192,672,754 - 192,681,562 (+)RGD
CHM1_12200,826,171 - 200,834,979 (+)NCBI
T2T-CHM13v2.02200,438,942 - 200,447,744 (+)NCBI
Sequence:
RefSeq Acc Id: NR_161377
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382199,955,317 - 199,964,117 (+)NCBI
T2T-CHM13v2.02200,438,942 - 200,447,744 (+)NCBI
Sequence:
RefSeq Acc Id: NP_078796   ⟸   NM_024520
- Peptide Label: isoform 1 precursor
- UniProtKB: Q658V9 (UniProtKB/Swiss-Prot),   Q9H671 (UniProtKB/Swiss-Prot),   Q8WWC4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001356328   ⟸   NM_001369399
- Peptide Label: isoform 2
- UniProtKB: H7C0V0 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000295079   ⟸   ENST00000295079
Ensembl Acc Id: ENSP00000376111   ⟸   ENST00000392290
Ensembl Acc Id: ENSP00000396846   ⟸   ENST00000435773
RefSeq Acc Id: NP_001381884   ⟸   NM_001394955
- Peptide Label: isoform 1 precursor
- UniProtKB: Q8WWC4 (UniProtKB/Swiss-Prot),   Q658V9 (UniProtKB/Swiss-Prot),   Q9H671 (UniProtKB/Swiss-Prot)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8WWC4-F1-model_v2 AlphaFold Q8WWC4 1-291 view protein structure

Promoters
RGD ID:6862458
Promoter ID:EPDNEW_H4394
Type:initiation region
Name:C2orf47_4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4393  EPDNEW_H4396  EPDNEW_H4398  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382199,955,341 - 199,955,401EPDNEW
RGD ID:6862462
Promoter ID:EPDNEW_H4396
Type:initiation region
Name:C2orf47_3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4393  EPDNEW_H4394  EPDNEW_H4398  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382199,955,582 - 199,955,642EPDNEW
RGD ID:6862466
Promoter ID:EPDNEW_H4398
Type:initiation region
Name:C2orf47_1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4393  EPDNEW_H4394  EPDNEW_H4396  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382199,955,793 - 199,955,853EPDNEW
RGD ID:6796892
Promoter ID:HG_KWN:36594
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Jurkat,   K562,   Lymphoblastoid
Transcripts:ENST00000392290,   NM_024520,   OTTHUMT00000335539
Position:
Human AssemblyChrPosition (strand)Source
Build 362200,528,364 - 200,528,864 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26198 AgrOrtholog
COSMIC MAIP1 COSMIC
Ensembl Genes ENSG00000162972 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000295079 ENTREZGENE
  ENST00000295079.6 UniProtKB/Swiss-Prot
  ENST00000392290 ENTREZGENE
  ENST00000392290.6 UniProtKB/Swiss-Prot
  ENST00000435773.2 UniProtKB/TrEMBL
GTEx ENSG00000162972 GTEx
HGNC ID HGNC:26198 ENTREZGENE
Human Proteome Map MAIP1 Human Proteome Map
KEGG Report hsa:79568 UniProtKB/Swiss-Prot
NCBI Gene 79568 ENTREZGENE
OMIM 617267 OMIM
PANTHER M-AAA PROTEASE-INTERACTING PROTEIN 1, MITOCHONDRIAL UniProtKB/Swiss-Prot
  M-AAA PROTEASE-INTERACTING PROTEIN 1, MITOCHONDRIAL UniProtKB/Swiss-Prot
  M-AAA PROTEASE-INTERACTING PROTEIN 1, MITOCHONDRIAL UniProtKB/TrEMBL
  M-AAA PROTEASE-INTERACTING PROTEIN 1, MITOCHONDRIAL UniProtKB/TrEMBL
PharmGKB PA162379149 PharmGKB
UniProt H7C0V0 ENTREZGENE, UniProtKB/TrEMBL
  MAIP1_HUMAN UniProtKB/Swiss-Prot
  Q658V9 ENTREZGENE
  Q8WWC4 ENTREZGENE
  Q9H671 ENTREZGENE
UniProt Secondary Q658V9 UniProtKB/Swiss-Prot
  Q9H671 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-10-04 MAIP1  matrix AAA peptidase interacting protein 1  C2orf47  chromosome 2 open reading frame 47  Symbol and/or name change 5135510 APPROVED