MIEF1 (mitochondrial elongation factor 1) - Rat Genome Database

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Gene: MIEF1 (mitochondrial elongation factor 1) Homo sapiens
Analyze
Symbol: MIEF1
Name: mitochondrial elongation factor 1
RGD ID: 1604008
HGNC Page HGNC:25979
Description: Enables identical protein binding activity; mitochondrial large ribosomal subunit binding activity; and purine ribonucleotide binding activity. Involved in several processes, including mitochondrial large ribosomal subunit assembly; mitochondrion organization; and regulation of mitochondrion organization. Located in mitochondrial matrix and mitochondrial outer membrane. Implicated in optic atrophy.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: AL022312.1; alternative protein SMCR7L; AltMIEF1; D3A; DANGER family member 3A; dJ1104E15.3; FLJ20232; HSU79252; MID51; MIEF1 microprotein; MIEF1 upstream open reading frame protein; MIEF1-MP; mitochondrial dynamic protein MID51; mitochondrial dynamic protein of 51 kDa; mitochondrial dynamics protein MID51; mitochondrial dynamics protein MIEF1; mitochondrial dynamics protein of 51 kDa; mitochondrial dynamics proteins of 51 kDa; novel protein; OPA14; SMCR7-like protein; SMCR7L; Smith-Magenis syndrome chromosomal region candidate gene 7 protein-like; Smith-Magenis syndrome chromosome region, candidate 7-like
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
GRCh382239,500,100 - 39,518,132 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2239,499,432 - 39,518,132 (+)EnsemblGRCh38hg38GRCh38
GRCh372239,896,105 - 39,914,137 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362238,228,230 - 38,244,083 (+)NCBINCBI36Build 36hg18NCBI36
Celera2223,700,340 - 23,716,193 (+)NCBICelera
Cytogenetic Map22q13.1NCBI
HuRef2222,862,794 - 22,878,726 (+)NCBIHuRef
CHM1_12239,857,023 - 39,872,876 (+)NCBICHM1_1
T2T-CHM13v2.02239,970,729 - 39,988,762 (+)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
membrane  (IEA)
mitochondrial matrix  (IDA,IEA)
mitochondrial outer membrane  (IBA,IDA,IEA)
mitochondrion  (HTP,IDA,IEA)
peroxisome  (TAS)

Molecular Function

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. Mitochondria dynamism: of shape, transport and cell migration. da Silva AF, etal., Cell Mol Life Sci. 2014 Jun;71(12):2313-24. doi: 10.1007/s00018-014-1557-8. Epub 2014 Jan 18.
2. The regulation of mitochondrial morphology: intricate mechanisms and dynamic machinery. Palmer CS, etal., Cell Signal. 2011 Oct;23(10):1534-45. doi: 10.1016/j.cellsig.2011.05.021. Epub 2011 Jun 13.
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8619474   PMID:9110174   PMID:10591208   PMID:11076863   PMID:11230166   PMID:11256614   PMID:12477932   PMID:15324660   PMID:15489336   PMID:16189514   PMID:16344560   PMID:16381901  
PMID:20877624   PMID:21508961   PMID:21701560   PMID:21873635   PMID:23283981   PMID:23530241   PMID:23880462   PMID:23921378   PMID:24515348   PMID:24817717   PMID:25416956   PMID:25621764  
PMID:26186194   PMID:26496610   PMID:26903540   PMID:27660309   PMID:28514442   PMID:28892042   PMID:28986522   PMID:29083303   PMID:29431643   PMID:29464060   PMID:29507755   PMID:30215512  
PMID:30629163   PMID:30894073   PMID:31533986   PMID:31723608   PMID:32068312   PMID:32296183   PMID:32877691   PMID:33632269   PMID:33961781   PMID:34079125   PMID:34349018   PMID:34597346  
PMID:34672954   PMID:34800366   PMID:35013218   PMID:35235311   PMID:35844135   PMID:35944360   PMID:36044022   PMID:36244648   PMID:36931259   PMID:37149986  


Genomics

Comparative Map Data
MIEF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382239,500,100 - 39,518,132 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2239,499,432 - 39,518,132 (+)EnsemblGRCh38hg38GRCh38
GRCh372239,896,105 - 39,914,137 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362238,228,230 - 38,244,083 (+)NCBINCBI36Build 36hg18NCBI36
Celera2223,700,340 - 23,716,193 (+)NCBICelera
Cytogenetic Map22q13.1NCBI
HuRef2222,862,794 - 22,878,726 (+)NCBIHuRef
CHM1_12239,857,023 - 39,872,876 (+)NCBICHM1_1
T2T-CHM13v2.02239,970,729 - 39,988,762 (+)NCBIT2T-CHM13v2.0
Mief1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391580,118,284 - 80,137,572 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1580,118,219 - 80,137,572 (+)EnsemblGRCm39 Ensembl
GRCm381580,233,964 - 80,253,372 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1580,234,018 - 80,253,371 (+)EnsemblGRCm38mm10GRCm38
MGSCv371580,064,510 - 80,083,801 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361580,061,375 - 80,079,979 (+)NCBIMGSCv36mm8
Celera1582,351,834 - 82,370,715 (+)NCBICelera
Cytogenetic Map15E1NCBI
cM Map1537.85NCBI
Mief1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87113,666,918 - 113,679,550 (+)NCBIGRCr8
mRatBN7.27111,786,630 - 111,802,220 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7111,786,709 - 111,802,220 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7113,541,220 - 113,553,854 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07115,764,757 - 115,777,391 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07115,734,118 - 115,746,753 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07121,462,962 - 121,478,545 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7121,462,966 - 121,478,546 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07121,451,086 - 121,466,360 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47118,526,138 - 118,531,814 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17118,560,367 - 118,566,044 (+)NCBI
Celera7108,114,129 - 108,126,760 (+)NCBICelera
Cytogenetic Map7q34NCBI
Mief1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541325,387,399 - 25,401,484 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541325,387,399 - 25,401,484 (+)NCBIChiLan1.0ChiLan1.0
MIEF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22349,349,448 - 49,369,904 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12252,040,839 - 52,056,693 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02220,408,502 - 20,424,327 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12238,228,876 - 38,244,774 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2238,228,939 - 38,244,774 (+)Ensemblpanpan1.1panPan2
MIEF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11025,534,231 - 25,548,565 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1025,536,288 - 25,546,369 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1025,470,090 - 25,484,439 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01026,285,972 - 26,300,295 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1026,285,988 - 26,300,166 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11026,000,543 - 26,014,884 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01026,320,077 - 26,334,405 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01026,495,583 - 26,510,147 (-)NCBIUU_Cfam_GSD_1.0
Mief1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049459,108,151 - 9,120,757 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364922,117,790 - 2,131,220 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364922,118,565 - 2,132,181 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MIEF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.158,748,171 - 8,762,087 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.256,049,362 - 6,061,727 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MIEF1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11922,072,217 - 22,087,577 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1922,081,838 - 22,085,527 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666045103,564,685 - 103,578,229 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mief1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247528,830,485 - 8,841,210 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247528,827,202 - 8,841,278 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MIEF1
39 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3 copy number gain See cases [RCV000051685] Chr22:37721797..40860953 [GRCh38]
Chr22:38117804..41256957 [GRCh37]
Chr22:36447750..39586903 [NCBI36]
Chr22:22q13.1-13.2		 pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_019008.6(MIEF1):c.832G>A (p.Ala278Thr) single nucleotide variant not specified [RCV004318851] Chr22:39513763 [GRCh38]
Chr22:39909768 [GRCh37]
Chr22:22q13.1		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_019008.6(MIEF1):c.911G>A (p.Arg304His) single nucleotide variant not provided [RCV000969385] Chr22:39513842 [GRCh38]
Chr22:39909847 [GRCh37]
Chr22:22q13.1		 benign
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33		 pathogenic
NM_019008.6(MIEF1):c.266C>T (p.Thr89Met) single nucleotide variant not provided [RCV000965499] Chr22:39511970 [GRCh38]
Chr22:39907975 [GRCh37]
Chr22:22q13.1		 benign
NM_019008.6(MIEF1):c.786C>T (p.Val262=) single nucleotide variant not provided [RCV000965500] Chr22:39513717 [GRCh38]
Chr22:39909722 [GRCh37]
Chr22:22q13.1		 benign
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NC_000022.10:g.(?_39621728)_(41077932_?)dup duplication Adenylosuccinate lyase deficiency [RCV001910122] Chr22:39621728..41077932 [GRCh37]
Chr22:22q13.1-13.2		 uncertain significance
NC_000022.10:g.(?_35776672)_(42486826_?)dup duplication Adenylosuccinate lyase deficiency [RCV003119093] Chr22:35776672..42486826 [GRCh37]
Chr22:22q12.3-13.2		 uncertain significance
NM_019008.6(MIEF1):c.955G>A (p.Gly319Ser) single nucleotide variant not specified [RCV004085484] Chr22:39513886 [GRCh38]
Chr22:39909891 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_019008.6(MIEF1):c.862C>T (p.Arg288Cys) single nucleotide variant not specified [RCV004081148] Chr22:39513793 [GRCh38]
Chr22:39909798 [GRCh37]
Chr22:22q13.1		 uncertain significance
GRCh37/hg19 22q13.1-13.2(chr22:39768795-41946225)x3 copy number gain not provided [RCV002475709] Chr22:39768795..41946225 [GRCh37]
Chr22:22q13.1-13.2		 uncertain significance
NM_019008.6(MIEF1):c.242G>A (p.Arg81Gln) single nucleotide variant not specified [RCV004139084] Chr22:39511946 [GRCh38]
Chr22:39907951 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_019008.6(MIEF1):c.557T>C (p.Leu186Ser) single nucleotide variant not specified [RCV004134446] Chr22:39512466 [GRCh38]
Chr22:39908471 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_019008.6(MIEF1):c.277C>T (p.Arg93Trp) single nucleotide variant not specified [RCV004182252] Chr22:39511981 [GRCh38]
Chr22:39907986 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_019008.6(MIEF1):c.604A>G (p.Ile202Val) single nucleotide variant not specified [RCV004163891] Chr22:39513535 [GRCh38]
Chr22:39909540 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_019008.6(MIEF1):c.1024C>T (p.Arg342Cys) single nucleotide variant not specified [RCV004155953] Chr22:39513955 [GRCh38]
Chr22:39909960 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_019008.6(MIEF1):c.1031C>T (p.Ala344Val) single nucleotide variant not specified [RCV004211481] Chr22:39513962 [GRCh38]
Chr22:39909967 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_019008.6(MIEF1):c.1231G>T (p.Ala411Ser) single nucleotide variant not specified [RCV004188260] Chr22:39514162 [GRCh38]
Chr22:39910167 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_019008.6(MIEF1):c.335C>A (p.Pro112Gln) single nucleotide variant not specified [RCV004079972] Chr22:39512244 [GRCh38]
Chr22:39908249 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_019008.6(MIEF1):c.430C>T (p.Arg144Trp) single nucleotide variant not specified [RCV004122446] Chr22:39512339 [GRCh38]
Chr22:39908344 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_019008.6(MIEF1):c.499G>A (p.Glu167Lys) single nucleotide variant not specified [RCV004209023] Chr22:39512408 [GRCh38]
Chr22:39908413 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_019008.6(MIEF1):c.946G>C (p.Val316Leu) single nucleotide variant not specified [RCV004181666] Chr22:39513877 [GRCh38]
Chr22:39909882 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_019008.6(MIEF1):c.977A>G (p.Lys326Arg) single nucleotide variant not specified [RCV004079921] Chr22:39513908 [GRCh38]
Chr22:39909913 [GRCh37]
Chr22:22q13.1		 likely benign
NM_019008.6(MIEF1):c.143G>A (p.Arg48Gln) single nucleotide variant not specified [RCV004137455] Chr22:39511437 [GRCh38]
Chr22:39907442 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_019008.6(MIEF1):c.287A>G (p.Gln96Arg) single nucleotide variant not specified [RCV004089357] Chr22:39511991 [GRCh38]
Chr22:39907996 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_019008.6(MIEF1):c.1316C>T (p.Thr439Ile) single nucleotide variant not specified [RCV004077780] Chr22:39514247 [GRCh38]
Chr22:39910252 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_019008.6(MIEF1):c.1037C>T (p.Thr346Met) single nucleotide variant not specified [RCV004090783] Chr22:39513968 [GRCh38]
Chr22:39909973 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_019008.6(MIEF1):c.673A>G (p.Met225Val) single nucleotide variant not specified [RCV004270463] Chr22:39513604 [GRCh38]
Chr22:39909609 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_019008.6(MIEF1):c.952C>G (p.Leu318Val) single nucleotide variant not specified [RCV004275647] Chr22:39513883 [GRCh38]
Chr22:39909888 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_019008.6(MIEF1):c.436C>T (p.Arg146Trp) single nucleotide variant Optic atrophy 14 [RCV003387454] Chr22:39512345 [GRCh38]
Chr22:39908350 [GRCh37]
Chr22:22q13.1		 pathogenic
NM_019008.6(MIEF1):c.875C>T (p.Pro292Leu) single nucleotide variant not specified [RCV004359256] Chr22:39513806 [GRCh38]
Chr22:39909811 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_019008.6(MIEF1):c.664G>A (p.Asp222Asn) single nucleotide variant not provided [RCV003437578] Chr22:39513595 [GRCh38]
Chr22:39909600 [GRCh37]
Chr22:22q13.1		 likely benign
GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3 copy number gain not specified [RCV003986179] Chr22:39044105..45794212 [GRCh37]
Chr22:22q13.1-13.31		 pathogenic
NM_019008.6(MIEF1):c.53C>T (p.Thr18Met) single nucleotide variant not specified [RCV004419805] Chr22:39511347 [GRCh38]
Chr22:39907352 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_019008.6(MIEF1):c.1312C>A (p.Leu438Ile) single nucleotide variant not specified [RCV004419800] Chr22:39514243 [GRCh38]
Chr22:39910248 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_019008.6(MIEF1):c.50G>A (p.Gly17Asp) single nucleotide variant not specified [RCV004419804] Chr22:39511344 [GRCh38]
Chr22:39907349 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_019008.6(MIEF1):c.197C>T (p.Ser66Leu) single nucleotide variant not specified [RCV004419802] Chr22:39511901 [GRCh38]
Chr22:39907906 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_019008.6(MIEF1):c.1208T>C (p.Met403Thr) single nucleotide variant not specified [RCV004419799] Chr22:39514139 [GRCh38]
Chr22:39910144 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_019008.6(MIEF1):c.577G>A (p.Asp193Asn) single nucleotide variant not specified [RCV004419806] Chr22:39512486 [GRCh38]
Chr22:39908491 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_019008.6(MIEF1):c.169C>G (p.Pro57Ala) single nucleotide variant not specified [RCV004419801] Chr22:39511873 [GRCh38]
Chr22:39907878 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_019008.6(MIEF1):c.1070C>T (p.Ser357Leu) single nucleotide variant not specified [RCV004419798] Chr22:39514001 [GRCh38]
Chr22:39910006 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_019008.6(MIEF1):c.551T>C (p.Met184Thr) single nucleotide variant not specified [RCV004640753] Chr22:39512460 [GRCh38]
Chr22:39908465 [GRCh37]
Chr22:22q13.1		 uncertain significance
NC_000022.10:g.(?_39306081)_(41904073_?)dup duplication Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [RCV004579118] Chr22:39306081..41904073 [GRCh37]
Chr22:22q13.1-13.2		 uncertain significance
NM_019008.6(MIEF1):c.252C>G (p.Asn84Lys) single nucleotide variant not specified [RCV004628894] Chr22:39511956 [GRCh38]
Chr22:39907961 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_019008.6(MIEF1):c.718T>A (p.Tyr240Asn) single nucleotide variant Optic atrophy 14 [RCV003387453] Chr22:39513649 [GRCh38]
Chr22:39909654 [GRCh37]
Chr22:22q13.1		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6278
Count of miRNA genes:1288
Interacting mature miRNAs:1697
Transcripts:ENST00000325301, ENST00000402881, ENST00000404569, ENST00000428069, ENST00000433117, ENST00000434364, ENST00000464629, ENST00000465564, ENST00000467866, ENST00000478342, ENST00000479514, ENST00000481746, ENST00000489792, ENST00000494219
Prediction methods: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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407271494GWAS920470_Hbody height QTL GWAS920470 (human)4e-22body height (VT:0001253)body height (CMO:0000106)223951165639511657Human
407171555GWAS820531_Halkaline phosphatase measurement QTL GWAS820531 (human)2e-28alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)223950115839501159Human
407285567GWAS934543_Halkaline phosphatase measurement QTL GWAS934543 (human)1e-19alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)223950115839501159Human
407007982GWAS656958_Hmean corpuscular hemoglobin QTL GWAS656958 (human)3e-10mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)223951727739517278Human
407101295GWAS750271_Hmean corpuscular hemoglobin QTL GWAS750271 (human)7e-13mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)223951727739517278Human
407358634GWAS1007610_Heducational attainment QTL GWAS1007610 (human)3e-09educational attainment223950652039506521Human
407267531GWAS916507_Hblood protein measurement QTL GWAS916507 (human)1e-08blood protein measurementblood protein measurement (CMO:0000028)223950747239507473Human

Markers in Region
SGC30687  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372239,911,665 - 39,911,766UniSTSGRCh37
Build 362238,241,611 - 38,241,712RGDNCBI36
Celera2223,713,721 - 23,713,822RGD
Cytogenetic Map22q13UniSTS
HuRef2222,876,254 - 22,876,355UniSTS
GeneMap99-GB4 RH Map22128.2UniSTS
Whitehead-RH Map22122.4UniSTS
RH64903  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372239,911,879 - 39,912,037UniSTSGRCh37
Build 362238,241,825 - 38,241,983RGDNCBI36
Celera2223,713,935 - 23,714,093RGD
Cytogenetic Map22q13UniSTS
HuRef2222,876,468 - 22,876,626UniSTS
GeneMap99-GB4 RH Map22135.94UniSTS
NCBI RH Map22157.7UniSTS
RH138  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372239,913,900 - 39,914,110UniSTSGRCh37
Build 362238,243,846 - 38,244,056RGDNCBI36
Celera2223,715,956 - 23,716,166RGD
Cytogenetic Map22q13UniSTS
HuRef2222,878,489 - 22,878,699UniSTS
SHGC-57575  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372239,912,919 - 39,913,065UniSTSGRCh37
Build 362238,242,865 - 38,243,011RGDNCBI36
Celera2223,714,975 - 23,715,121RGD
Cytogenetic Map22q13UniSTS
HuRef2222,877,508 - 22,877,654UniSTS
G20660  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372239,911,891 - 39,912,007UniSTSGRCh37
Build 362238,241,837 - 38,241,953RGDNCBI36
Celera2223,713,947 - 23,714,063RGD
Cytogenetic Map22q13UniSTS
HuRef2222,876,480 - 22,876,596UniSTS
A006A38  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372239,911,891 - 39,912,007UniSTSGRCh37
Build 362238,241,837 - 38,241,953RGDNCBI36
Celera2223,713,947 - 23,714,063RGD
Cytogenetic Map22q13UniSTS
HuRef2222,876,480 - 22,876,596UniSTS
GeneMap99-GB4 RH Map22135.94UniSTS
NCBI RH Map22157.7UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2351 5 624 1951 465 2269 7305 6471 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001304564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_019008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_130789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_130790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF086364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL022312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL365515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL834205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC054037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG419918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA192893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF548110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000325301   ⟹   ENSP00000327124
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2239,502,290 - 39,518,132 (+)Ensembl
Ensembl Acc Id: ENST00000402881   ⟹   ENSP00000385110
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2239,500,100 - 39,515,708 (+)Ensembl
Ensembl Acc Id: ENST00000404569   ⟹   ENSP00000385191
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2239,502,377 - 39,516,178 (+)Ensembl
Ensembl Acc Id: ENST00000428069   ⟹   ENSP00000413730
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2239,502,397 - 39,513,866 (+)Ensembl
Ensembl Acc Id: ENST00000433117   ⟹   ENSP00000404096
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2239,502,302 - 39,516,380 (+)Ensembl
Ensembl Acc Id: ENST00000434364   ⟹   ENSP00000390029
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2239,502,395 - 39,511,422 (+)Ensembl
Ensembl Acc Id: ENST00000464629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2239,499,432 - 39,504,302 (+)Ensembl
Ensembl Acc Id: ENST00000465564
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2239,501,731 - 39,502,385 (+)Ensembl
Ensembl Acc Id: ENST00000467866
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2239,500,347 - 39,504,454 (+)Ensembl
Ensembl Acc Id: ENST00000478342
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2239,502,252 - 39,504,534 (+)Ensembl
Ensembl Acc Id: ENST00000479514
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2239,503,457 - 39,504,510 (+)Ensembl
Ensembl Acc Id: ENST00000481746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2239,502,256 - 39,504,485 (+)Ensembl
Ensembl Acc Id: ENST00000489792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2239,502,211 - 39,503,862 (+)Ensembl
Ensembl Acc Id: ENST00000494219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2239,502,355 - 39,504,711 (+)Ensembl
RefSeq Acc Id: NM_001304564   ⟹   NP_001291493
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,500,100 - 39,518,132 (+)NCBI
CHM1_12239,854,844 - 39,872,878 (+)NCBI
T2T-CHM13v2.02239,970,729 - 39,988,762 (+)NCBI
Sequence:
RefSeq Acc Id: NM_019008   ⟹   NP_061881
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,502,290 - 39,518,132 (+)NCBI
GRCh372239,898,197 - 39,914,139 (+)NCBI
Build 362238,228,230 - 38,244,083 (+)NCBI Archive
Celera2223,700,340 - 23,716,193 (+)RGD
HuRef2222,862,794 - 22,878,726 (+)RGD
CHM1_12239,856,974 - 39,872,878 (+)NCBI
T2T-CHM13v2.02239,972,919 - 39,988,762 (+)NCBI
Sequence:
RefSeq Acc Id: NR_130789
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,502,290 - 39,518,132 (+)NCBI
CHM1_12239,856,974 - 39,872,878 (+)NCBI
T2T-CHM13v2.02239,972,919 - 39,988,762 (+)NCBI
Sequence:
RefSeq Acc Id: NR_130790
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,502,290 - 39,518,132 (+)NCBI
CHM1_12239,856,974 - 39,868,968 (+)NCBI
T2T-CHM13v2.02239,972,919 - 39,988,762 (+)NCBI
Sequence:
RefSeq Acc Id: NP_061881   ⟸   NM_019008
- Peptide Label: isoform 1
- UniProtKB: Q52MA5 (UniProtKB/Swiss-Prot),   Q7L890 (UniProtKB/Swiss-Prot),   Q9BUI3 (UniProtKB/Swiss-Prot),   Q9NQG6 (UniProtKB/Swiss-Prot),   Q9H0J7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001291493   ⟸   NM_001304564
- Peptide Label: isoform 2
- UniProtKB: B0QY95 (UniProtKB/TrEMBL),   Q9H0J7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000413730   ⟸   ENST00000428069
Ensembl Acc Id: ENSP00000385110   ⟸   ENST00000402881
Ensembl Acc Id: ENSP00000327124   ⟸   ENST00000325301
Ensembl Acc Id: ENSP00000385191   ⟸   ENST00000404569
Ensembl Acc Id: ENSP00000404096   ⟸   ENST00000433117
Ensembl Acc Id: ENSP00000390029   ⟸   ENST00000434364
Protein Domains
Mitochondrial dynamics protein MID51-like C-

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NQG6-F1-model_v2 AlphaFold Q9NQG6 1-463 view protein structure

Promoters
RGD ID:6799826
Promoter ID:HG_KWN:42891
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000216171,   ENST00000404569,   NM_019008,   OTTHUMT00000321330,   OTTHUMT00000321333,   OTTHUMT00000321334,   OTTHUMT00000321335,   OTTHUMT00000321336,   OTTHUMT00000321338,   OTTHUMT00000321339,   UC003AXY.1,   UC010GXZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362238,228,084 - 38,228,584 (+)MPROMDB
RGD ID:6800375
Promoter ID:HG_KWN:42892
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_2Hour,   Lymphoblastoid
Transcripts:OTTHUMT00000321337
Position:
Human AssemblyChrPosition (strand)Source
Build 362238,228,506 - 38,229,082 (+)MPROMDB
RGD ID:6815428
Promoter ID:HG_MRA:10576
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:BC032530,   BC054037,   CR601387
Position:
Human AssemblyChrPosition (strand)Source
Build 362238,243,481 - 38,243,981 (+)MPROMDB
RGD ID:13604168
Promoter ID:EPDNEW_H28268
Type:initiation region
Name:MIEF1_1
Description:mitochondrial elongation factor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28269  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,502,362 - 39,502,422EPDNEW
RGD ID:13604170
Promoter ID:EPDNEW_H28269
Type:initiation region
Name:MIEF1_2
Description:mitochondrial elongation factor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28268  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,504,255 - 39,504,315EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25979 AgrOrtholog
COSMIC MIEF1 COSMIC
Ensembl Genes ENSG00000100335 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000325301 ENTREZGENE
  ENST00000325301.7 UniProtKB/Swiss-Prot
  ENST00000402881 ENTREZGENE
  ENST00000402881.5 UniProtKB/TrEMBL
  ENST00000404569.5 UniProtKB/Swiss-Prot
  ENST00000428069.1 UniProtKB/Swiss-Prot
  ENST00000433117.6 UniProtKB/Swiss-Prot
  ENST00000434364.5 UniProtKB/TrEMBL
Gene3D-CATH 1.10.1410.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.460.90 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000100335 GTEx
HGNC ID HGNC:25979 ENTREZGENE
Human Proteome Map MIEF1 Human Proteome Map
InterPro Complex1_LYR UniProtKB/Swiss-Prot
  Complex1_LYR_MIEF1-MP UniProtKB/Swiss-Prot
  Mab-21_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mab-21_HhH/H2TH-like UniProtKB/Swiss-Prot
  MID49/MID51 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MID51-like_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54471 UniProtKB/Swiss-Prot
NCBI Gene 54471 ENTREZGENE
OMIM 615497 OMIM
PANTHER MITOCHONDRIAL DYNAMICS PROTEIN MID51 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR16451 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Complex1_LYR UniProtKB/Swiss-Prot
  Mab-21_C UniProtKB/Swiss-Prot
  MID51-like_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA145148068 PharmGKB
SMART Mab-21 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B0QY94_HUMAN UniProtKB/TrEMBL
  B0QY95 ENTREZGENE, UniProtKB/TrEMBL
  MID51_HUMAN UniProtKB/Swiss-Prot
  MIDUO_HUMAN UniProtKB/Swiss-Prot
  Q52MA5 ENTREZGENE
  Q7L890 ENTREZGENE
  Q9BUI3 ENTREZGENE
  Q9H0J7 ENTREZGENE, UniProtKB/TrEMBL
  Q9NQG6 ENTREZGENE
UniProt Secondary Q52MA5 UniProtKB/Swiss-Prot
  Q7L890 UniProtKB/Swiss-Prot
  Q9BUI3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-06-07 MIEF1  mitochondrial elongation factor 1  AL022312.1  novel protein  Data merged from RGD:16570615 737654 PROVISIONAL
2021-02-23 AL022312.1  novel protein  AL022312.1  MIEF1 upstream open reading frame protein  Symbol and/or name change 19259462 PROVISIONAL
2013-10-22 MIEF1  mitochondrial elongation factor 1  SMCR7L  Smith-Magenis syndrome chromosome region, candidate 7-like  Symbol and/or name change 5135510 APPROVED