RMI1 (RecQ mediated genome instability 1) - Rat Genome Database

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Gene: RMI1 (RecQ mediated genome instability 1) Homo sapiens
Analyze
Symbol: RMI1
Name: RecQ mediated genome instability 1
RGD ID: 1321710
HGNC Page HGNC:25764
Description: Predicted to enable nucleotide binding activity. Involved in double-strand break repair via homologous recombination and resolution of DNA recombination intermediates. Located in RecQ family helicase-topoisomerase III complex and nuclear body.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: BLAP75; BLM-Associated Polypeptide, 75 kDa; BLM-associated protein 75 kDa; BLM-associated protein of 75 kDa; C9orf76; chromosome 9 open reading frame 76; FAAP75; FLJ12888; homolog of yeast RecQ-mediated genome instability 1 (RMI1); recQ-mediated genome instability protein 1; RMI1, RecQ mediated genome instability 1, homolog; RP11-346I8.1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38983,980,359 - 84,004,074 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl983,980,798 - 84,004,074 (+)EnsemblGRCh38hg38GRCh38
GRCh37986,595,274 - 86,618,989 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36985,785,457 - 85,808,809 (+)NCBINCBI36Build 36hg18NCBI36
Build 34983,825,266 - 83,848,539NCBI
Celera957,166,649 - 57,190,003 (+)NCBICelera
Cytogenetic Map9q21.32NCBI
HuRef956,421,267 - 56,444,643 (+)NCBIHuRef
CHM1_1986,742,234 - 86,765,591 (+)NCBICHM1_1
T2T-CHM13v2.0996,130,640 - 96,154,361 (+)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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Colon cancer  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
3. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:12973351   PMID:14702039   PMID:15164053   PMID:15342556   PMID:15489334   PMID:15775963   PMID:15889139   PMID:16344560   PMID:16537486   PMID:16595695   PMID:17081983   PMID:17289582  
PMID:17728255   PMID:17900800   PMID:18390547   PMID:18854154   PMID:19432957   PMID:19861517   PMID:19945966   PMID:20064461   PMID:20339536   PMID:20347428   PMID:20347429   PMID:20360068  
PMID:20445207   PMID:20711169   PMID:20826341   PMID:20826342   PMID:21873635   PMID:21900206   PMID:22082156   PMID:22343915   PMID:22392978   PMID:22645306   PMID:23509288   PMID:23543748  
PMID:23918034   PMID:24108125   PMID:24126761   PMID:24239288   PMID:24332808   PMID:24509834   PMID:24984776   PMID:25200081   PMID:25231870   PMID:26186194   PMID:26496610   PMID:26556339  
PMID:26717309   PMID:26949251   PMID:26972000   PMID:27723720   PMID:28514442   PMID:29042194   PMID:29331416   PMID:29656893   PMID:29997244   PMID:30279242   PMID:30676768   PMID:30804502  
PMID:31180492   PMID:33202158   PMID:33785812   PMID:33961781   PMID:34795231   PMID:35102151   PMID:35115525   PMID:35218564   PMID:35271311   PMID:35439318   PMID:35563538   PMID:35831314  
PMID:36529288   PMID:37827155  


Genomics

Comparative Map Data
RMI1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38983,980,359 - 84,004,074 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl983,980,798 - 84,004,074 (+)EnsemblGRCh38hg38GRCh38
GRCh37986,595,274 - 86,618,989 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36985,785,457 - 85,808,809 (+)NCBINCBI36Build 36hg18NCBI36
Build 34983,825,266 - 83,848,539NCBI
Celera957,166,649 - 57,190,003 (+)NCBICelera
Cytogenetic Map9q21.32NCBI
HuRef956,421,267 - 56,444,643 (+)NCBIHuRef
CHM1_1986,742,234 - 86,765,591 (+)NCBICHM1_1
T2T-CHM13v2.0996,130,640 - 96,154,361 (+)NCBIT2T-CHM13v2.0
Rmi1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391358,550,062 - 58,558,963 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1358,550,062 - 58,558,962 (+)EnsemblGRCm39 Ensembl
GRCm381358,402,248 - 58,411,149 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1358,402,248 - 58,411,148 (+)EnsemblGRCm38mm10GRCm38
MGSCv371358,503,609 - 58,512,510 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361358,411,891 - 58,420,767 (+)NCBIMGSCv36mm8
Celera1359,464,611 - 59,473,512 (+)NCBICelera
Cytogenetic Map13B1NCBI
cM Map1331.05NCBI
Rmi1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8176,261,961 - 6,269,947 (-)NCBIGRCr8
mRatBN7.2176,256,533 - 6,264,523 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl176,256,450 - 6,264,695 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx176,279,252 - 6,286,545 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0177,812,598 - 7,819,889 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0176,275,624 - 6,282,917 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0176,658,285 - 6,665,618 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl176,658,388 - 6,660,536 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0178,862,657 - 8,869,991 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41712,187,351 - 12,190,862 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11712,187,354 - 12,194,553 (-)NCBI
Celera176,366,423 - 6,373,756 (-)NCBICelera
Cytogenetic Map17p14NCBI
Rmi1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554323,215,769 - 3,217,622 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554323,215,372 - 3,241,840 (-)NCBIChiLan1.0ChiLan1.0
RMI1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21183,139,455 - 83,162,779 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1983,145,398 - 83,168,731 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0940,875,290 - 40,898,613 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1983,336,824 - 83,359,867 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl983,356,786 - 83,358,663 (+)Ensemblpanpan1.1panPan2
RMI1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1175,481,650 - 75,499,284 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl175,481,708 - 75,484,576 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha176,131,227 - 76,149,910 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0175,782,633 - 75,801,319 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1175,596,616 - 75,615,294 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0175,359,454 - 75,378,102 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0176,062,287 - 76,080,974 (-)NCBIUU_Cfam_GSD_1.0
Rmi1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947122,165,120 - 122,186,246 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936828857,889 - 859,766 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936828839,142 - 859,982 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RMI1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1030,952,534 - 30,975,614 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11030,952,536 - 30,975,549 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21034,851,247 - 35,102,621 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RMI1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11294,792,202 - 94,816,112 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1294,813,042 - 94,814,919 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603883,211,320 - 83,236,767 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rmi1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248097,563,212 - 7,565,056 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248097,548,351 - 7,565,738 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RMI1
27 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 copy number gain See cases [RCV000136788] Chr9:68420430..106579493 [GRCh38]
Chr9:71130848..109341774 [GRCh37]
Chr9:70225166..108381595 [NCBI36]
Chr9:9q21.11-31.2		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 copy number gain See cases [RCV000139789] Chr9:69627642..111454304 [GRCh38]
Chr9:72242558..114216584 [GRCh37]
Chr9:71432378..113256405 [NCBI36]
Chr9:9q21.12-31.3		 pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4 copy number gain See cases [RCV000512280] Chr9:70966262..90761254 [GRCh37]
Chr9:9q21.11-22.1		 pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_001358291.2(RMI1):c.1255_1259del (p.Lys419fs) microsatellite not provided [RCV000714971] Chr9:84002235..84002239 [GRCh38]
Chr9:86617150..86617154 [GRCh37]
Chr9:9q21.32		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33		 likely pathogenic
NM_001358291.2(RMI1):c.997A>G (p.Thr333Ala) single nucleotide variant RMI1-related condition [RCV003922980]|not provided [RCV000901652] Chr9:84001983 [GRCh38]
Chr9:86616898 [GRCh37]
Chr9:9q21.32		 benign
GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274) copy number gain not provided [RCV000767645] Chr9:79520825..97201274 [GRCh37]
Chr9:9q21.2-22.32		 pathogenic
NM_001358291.2(RMI1):c.1271A>G (p.Asp424Gly) single nucleotide variant not provided [RCV000893199] Chr9:84002257 [GRCh38]
Chr9:86617172 [GRCh37]
Chr9:9q21.32		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
GRCh37/hg19 9q21.32-21.33(chr9:86434567-88413614)x3 copy number gain not provided [RCV000846141] Chr9:86434567..88413614 [GRCh37]
Chr9:9q21.32-21.33		 uncertain significance
NM_001358291.2(RMI1):c.1284_1288del (p.Lys428fs) deletion Colorectal cancer [RCV001543615] Chr9:84002267..84002271 [GRCh38]
Chr9:86617182..86617186 [GRCh37]
Chr9:9q21.32		 likely pathogenic
NM_001358291.2(RMI1):c.897A>T (p.Pro299=) single nucleotide variant not provided [RCV000911671] Chr9:84001883 [GRCh38]
Chr9:86616798 [GRCh37]
Chr9:9q21.32		 benign
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) copy number gain not specified [RCV002053853] Chr9:71349994..122603410 [GRCh37]
Chr9:9q21.11-33.2		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
NM_001358291.2(RMI1):c.1406G>A (p.Cys469Tyr) single nucleotide variant Inborn genetic diseases [RCV002688186] Chr9:84002392 [GRCh38]
Chr9:86617307 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_001358291.2(RMI1):c.1865G>A (p.Arg622Gln) single nucleotide variant Inborn genetic diseases [RCV002978125] Chr9:84002851 [GRCh38]
Chr9:86617766 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_001358291.2(RMI1):c.238G>A (p.Glu80Lys) single nucleotide variant Inborn genetic diseases [RCV002875178] Chr9:84001224 [GRCh38]
Chr9:86616139 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_001358291.2(RMI1):c.1810A>G (p.Met604Val) single nucleotide variant Inborn genetic diseases [RCV002985182] Chr9:84002796 [GRCh38]
Chr9:86617711 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_001358291.2(RMI1):c.550C>A (p.Pro184Thr) single nucleotide variant Inborn genetic diseases [RCV002874435] Chr9:84001536 [GRCh38]
Chr9:86616451 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_001358291.2(RMI1):c.623C>T (p.Ala208Val) single nucleotide variant Inborn genetic diseases [RCV002985183] Chr9:84001609 [GRCh38]
Chr9:86616524 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_001358291.2(RMI1):c.940T>C (p.Phe314Leu) single nucleotide variant Inborn genetic diseases [RCV002645435] Chr9:84001926 [GRCh38]
Chr9:86616841 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_001358291.2(RMI1):c.455A>G (p.Gln152Arg) single nucleotide variant Inborn genetic diseases [RCV002827404] Chr9:84001441 [GRCh38]
Chr9:86616356 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_001358291.2(RMI1):c.477T>G (p.Ser159Arg) single nucleotide variant Inborn genetic diseases [RCV002873268] Chr9:84001463 [GRCh38]
Chr9:86616378 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_001358291.2(RMI1):c.71C>T (p.Pro24Leu) single nucleotide variant Inborn genetic diseases [RCV002812722] Chr9:84001057 [GRCh38]
Chr9:86615972 [GRCh37]
Chr9:9q21.32		 likely benign
NM_001358291.2(RMI1):c.610G>C (p.Glu204Gln) single nucleotide variant Inborn genetic diseases [RCV002940277] Chr9:84001596 [GRCh38]
Chr9:86616511 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_001358291.2(RMI1):c.1697A>G (p.Lys566Arg) single nucleotide variant Inborn genetic diseases [RCV002897622] Chr9:84002683 [GRCh38]
Chr9:86617598 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_001358291.2(RMI1):c.466A>G (p.Ile156Val) single nucleotide variant Inborn genetic diseases [RCV003381732] Chr9:84001452 [GRCh38]
Chr9:86616367 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_001358291.2(RMI1):c.701A>G (p.Asp234Gly) single nucleotide variant Inborn genetic diseases [RCV003377138] Chr9:84001687 [GRCh38]
Chr9:86616602 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_001358291.2(RMI1):c.526C>T (p.Arg176Cys) single nucleotide variant Inborn genetic diseases [RCV003361944] Chr9:84001512 [GRCh38]
Chr9:86616427 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_001358291.2(RMI1):c.917T>C (p.Val306Ala) single nucleotide variant Olaparib response [RCV003484450] Chr9:84001903 [GRCh38]
Chr9:86616818 [GRCh37]
Chr9:9q21.32		 drug response
NM_001358291.2(RMI1):c.55C>T (p.His19Tyr) single nucleotide variant not provided [RCV003430117] Chr9:84001041 [GRCh38]
Chr9:86615956 [GRCh37]
Chr9:9q21.32		 likely benign
NM_001358291.2(RMI1):c.1813G>T (p.Val605Leu) single nucleotide variant RMI1-related condition [RCV003956665] Chr9:84002799 [GRCh38]
Chr9:86617714 [GRCh37]
Chr9:9q21.32		 likely benign
NM_001358291.2(RMI1):c.1364A>G (p.Asn455Ser) single nucleotide variant RMI1-related condition [RCV003982322] Chr9:84002350 [GRCh38]
Chr9:86617265 [GRCh37]
Chr9:9q21.32		 benign
NM_001358291.2(RMI1):c.1588A>G (p.Ile530Val) single nucleotide variant RMI1-related condition [RCV003937205] Chr9:84002574 [GRCh38]
Chr9:86617489 [GRCh37]
Chr9:9q21.32		 likely benign
NM_001358291.2(RMI1):c.592T>C (p.Leu198=) single nucleotide variant RMI1-related condition [RCV003904787] Chr9:84001578 [GRCh38]
Chr9:86616493 [GRCh37]
Chr9:9q21.32		 benign
NM_001358291.2(RMI1):c.850A>G (p.Ser284Gly) single nucleotide variant RMI1-related condition [RCV003934133] Chr9:84001836 [GRCh38]
Chr9:86616751 [GRCh37]
Chr9:9q21.32		 benign
NM_001358291.2(RMI1):c.1000A>G (p.Lys334Glu) single nucleotide variant RMI1-related condition [RCV003934207] Chr9:84001986 [GRCh38]
Chr9:86616901 [GRCh37]
Chr9:9q21.32		 likely benign
NM_001358291.2(RMI1):c.542T>C (p.Leu181Ser) single nucleotide variant RMI1-related condition [RCV003916890] Chr9:84001528 [GRCh38]
Chr9:86616443 [GRCh37]
Chr9:9q21.32		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:467
Count of miRNA genes:370
Interacting mature miRNAs:396
Transcripts:ENST00000325875, ENST00000445877
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.

Markers in Region
SHGC-24378  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37986,618,793 - 86,618,882UniSTSGRCh37
Build 36985,808,613 - 85,808,702RGDNCBI36
Celera957,189,807 - 57,189,896RGD
Cytogenetic Map9q21.32UniSTS
HuRef956,444,447 - 56,444,536UniSTS
Stanford-G3 RH Map92747.0UniSTS
NCBI RH Map9743.1UniSTS
GeneMap99-G3 RH Map92645.0UniSTS
SHGC-132380  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37986,618,767 - 86,618,872UniSTSGRCh37
Build 36985,808,587 - 85,808,692RGDNCBI36
Celera957,189,781 - 57,189,886RGD
Cytogenetic Map9q21.32UniSTS
HuRef956,444,421 - 56,444,526UniSTS
TNG Radiation Hybrid Map929157.0UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 177 33 123 53 729 56 266 57 309 108 564 321 9 1 3
Low 2262 2705 1603 571 1066 409 4084 2064 3416 307 896 1292 165 1 1203 2781 3 2
Below cutoff 252 156 6 75 9 4 1 6

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001358291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001358292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001358293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001358294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AJ420435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL354733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL732446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC044571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP327553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA128213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN997105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000325875   ⟹   ENSP00000317039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl983,980,798 - 84,004,074 (+)Ensembl
RefSeq Acc Id: ENST00000445877   ⟹   ENSP00000402433
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl983,980,805 - 84,004,074 (+)Ensembl
RefSeq Acc Id: NM_001358291   ⟹   NP_001345220
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38983,980,805 - 84,004,074 (+)NCBI
T2T-CHM13v2.0996,131,086 - 96,154,361 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001358292   ⟹   NP_001345221
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38983,980,805 - 84,004,074 (+)NCBI
T2T-CHM13v2.0996,131,086 - 96,154,361 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001358293   ⟹   NP_001345222
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38983,980,805 - 84,004,074 (+)NCBI
T2T-CHM13v2.0996,131,086 - 96,154,361 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001358294   ⟹   NP_001345223
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38983,980,359 - 84,004,074 (+)NCBI
T2T-CHM13v2.0996,130,640 - 96,154,361 (+)NCBI
Sequence:
RefSeq Acc Id: NM_024945   ⟹   NP_079221
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38983,980,805 - 84,004,074 (+)NCBI
GRCh37986,595,321 - 86,618,989 (+)NCBI
Build 36985,785,457 - 85,808,809 (+)NCBI Archive
HuRef956,421,267 - 56,444,643 (+)ENTREZGENE
CHM1_1986,742,234 - 86,765,591 (+)NCBI
T2T-CHM13v2.0996,131,086 - 96,154,361 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017015140   ⟹   XP_016870629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38983,988,451 - 84,004,074 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054363870   ⟹   XP_054219845
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0996,140,400 - 96,154,361 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_079221   ⟸   NM_024945
- UniProtKB: Q6PI89 (UniProtKB/Swiss-Prot),   Q6P1Q4 (UniProtKB/Swiss-Prot),   Q5SQG9 (UniProtKB/Swiss-Prot),   Q5SQG8 (UniProtKB/Swiss-Prot),   Q05CW3 (UniProtKB/Swiss-Prot),   Q05BX1 (UniProtKB/Swiss-Prot),   Q7Z6L6 (UniProtKB/Swiss-Prot),   Q9H9A7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016870629   ⟸   XM_017015140
- Peptide Label: isoform X1
- UniProtKB: Q6PI89 (UniProtKB/Swiss-Prot),   Q6P1Q4 (UniProtKB/Swiss-Prot),   Q5SQG9 (UniProtKB/Swiss-Prot),   Q5SQG8 (UniProtKB/Swiss-Prot),   Q05CW3 (UniProtKB/Swiss-Prot),   Q05BX1 (UniProtKB/Swiss-Prot),   Q7Z6L6 (UniProtKB/Swiss-Prot),   Q9H9A7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001345223   ⟸   NM_001358294
- UniProtKB: Q9H9A7 (UniProtKB/Swiss-Prot),   Q6PI89 (UniProtKB/Swiss-Prot),   Q6P1Q4 (UniProtKB/Swiss-Prot),   Q5SQG9 (UniProtKB/Swiss-Prot),   Q5SQG8 (UniProtKB/Swiss-Prot),   Q05CW3 (UniProtKB/Swiss-Prot),   Q05BX1 (UniProtKB/Swiss-Prot),   Q7Z6L6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001345221   ⟸   NM_001358292
- UniProtKB: Q9H9A7 (UniProtKB/Swiss-Prot),   Q6PI89 (UniProtKB/Swiss-Prot),   Q6P1Q4 (UniProtKB/Swiss-Prot),   Q5SQG9 (UniProtKB/Swiss-Prot),   Q5SQG8 (UniProtKB/Swiss-Prot),   Q05CW3 (UniProtKB/Swiss-Prot),   Q05BX1 (UniProtKB/Swiss-Prot),   Q7Z6L6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001345222   ⟸   NM_001358293
- UniProtKB: Q9H9A7 (UniProtKB/Swiss-Prot),   Q6PI89 (UniProtKB/Swiss-Prot),   Q6P1Q4 (UniProtKB/Swiss-Prot),   Q5SQG9 (UniProtKB/Swiss-Prot),   Q5SQG8 (UniProtKB/Swiss-Prot),   Q05CW3 (UniProtKB/Swiss-Prot),   Q05BX1 (UniProtKB/Swiss-Prot),   Q7Z6L6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001345220   ⟸   NM_001358291
- UniProtKB: Q9H9A7 (UniProtKB/Swiss-Prot),   Q6PI89 (UniProtKB/Swiss-Prot),   Q6P1Q4 (UniProtKB/Swiss-Prot),   Q5SQG9 (UniProtKB/Swiss-Prot),   Q5SQG8 (UniProtKB/Swiss-Prot),   Q05CW3 (UniProtKB/Swiss-Prot),   Q05BX1 (UniProtKB/Swiss-Prot),   Q7Z6L6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000317039   ⟸   ENST00000325875
RefSeq Acc Id: ENSP00000402433   ⟸   ENST00000445877
RefSeq Acc Id: XP_054219845   ⟸   XM_054363870
- Peptide Label: isoform X1
Protein Domains
RecQ mediated genome instability protein 1 OB-fold   RMI1 N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H9A7-F1-model_v2 AlphaFold Q9H9A7 1-625 view protein structure

Promoters
RGD ID:7215339
Promoter ID:EPDNEW_H13416
Type:initiation region
Name:RMI1_2
Description:RecQ mediated genome instability 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13418  EPDNEW_H13420  EPDNEW_H13421  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38983,979,743 - 83,979,803EPDNEW
RGD ID:7215343
Promoter ID:EPDNEW_H13418
Type:initiation region
Name:RMI1_4
Description:RecQ mediated genome instability 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13416  EPDNEW_H13420  EPDNEW_H13421  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38983,980,359 - 83,980,419EPDNEW
RGD ID:7215347
Promoter ID:EPDNEW_H13420
Type:initiation region
Name:RMI1_3
Description:RecQ mediated genome instability 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13416  EPDNEW_H13418  EPDNEW_H13421  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38983,980,608 - 83,980,668EPDNEW
RGD ID:7215357
Promoter ID:EPDNEW_H13421
Type:initiation region
Name:RMI1_1
Description:RecQ mediated genome instability 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13416  EPDNEW_H13418  EPDNEW_H13420  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38983,980,805 - 83,980,865EPDNEW
RGD ID:6808053
Promoter ID:HG_KWN:63845
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000376258,   ENST00000376264,   ENST00000376268,   NM_002140,   NM_024945,   NM_031262,   NM_031263,   OTTHUMT00000052848,   OTTHUMT00000052849,   OTTHUMT00000052852,   UC004ANG.2,   UC004ANH.2,   UC004ANI.2,   UC004ANJ.2,   UC004ANK.2,   UC004ANN.2,   UC004ANP.2,   UC004ANR.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36985,784,236 - 85,786,197 (+)MPROMDB
RGD ID:6808051
Promoter ID:HG_KWN:63848
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC010MPY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36985,807,011 - 85,807,511 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25764 AgrOrtholog
COSMIC RMI1 COSMIC
Ensembl Genes ENSG00000178966 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000325875 ENTREZGENE
  ENST00000325875.7 UniProtKB/Swiss-Prot
  ENST00000445877 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000445877.6 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.8.1020 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.40.50.510 UniProtKB/Swiss-Prot
  2.40.50.770 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000178966 GTEx
HGNC ID HGNC:25764 ENTREZGENE
Human Proteome Map RMI1 Human Proteome Map
InterPro RMI1_C UniProtKB/Swiss-Prot
  RMI1_N UniProtKB/Swiss-Prot
  RMI1_N UniProtKB/Swiss-Prot
  RMI1_N UniProtKB/TrEMBL
  RMI1_N UniProtKB/TrEMBL
  RMI1_N_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RMI1_N_2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:80010 UniProtKB/Swiss-Prot
NCBI Gene 80010 ENTREZGENE
OMIM 610404 OMIM
PANTHER RECQ-MEDIATED GENOME INSTABILITY PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RECQ-MEDIATED GENOME INSTABILITY PROTEIN 1 RMI1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RMI1_C UniProtKB/Swiss-Prot
  RMI1_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RMI1_N_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134939007 PharmGKB
SMART DUF1767 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MSU3_HUMAN UniProtKB/TrEMBL
  Q05BX1 ENTREZGENE
  Q05CW3 ENTREZGENE
  Q5SQG8 ENTREZGENE
  Q5SQG9 ENTREZGENE
  Q6P1Q4 ENTREZGENE
  Q6PI89 ENTREZGENE
  Q7Z6L6 ENTREZGENE
  Q9H9A7 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q05BX1 UniProtKB/Swiss-Prot
  Q05CW3 UniProtKB/Swiss-Prot
  Q5SQG8 UniProtKB/Swiss-Prot
  Q5SQG9 UniProtKB/Swiss-Prot
  Q6P1Q4 UniProtKB/Swiss-Prot
  Q6PI89 UniProtKB/Swiss-Prot
  Q7Z6L6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-06-18 RMI1  RecQ mediated genome instability 1  RMI1  RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED