MBLAC1 (metallo-beta-lactamase domain containing 1) - Rat Genome Database

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Gene: MBLAC1 (metallo-beta-lactamase domain containing 1) Homo sapiens
Analyze
Symbol: MBLAC1
Name: metallo-beta-lactamase domain containing 1
RGD ID: 1602638
HGNC Page HGNC:22180
Description: Enables RNA endonuclease activity and metal ion binding activity. Involved in histone mRNA metabolic process; mRNA 3'-end processing; and positive regulation of G1/S transition of mitotic cell cycle. Located in cytoplasm and nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: endoribonuclease MBLAC1; metallo-beta-lactamase domain-containing protein 1; MGC39819
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
GRCh387100,126,967 - 100,128,495 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7100,126,785 - 100,128,495 (+)EnsemblGRCh38hg38GRCh38
GRCh37799,724,590 - 99,726,118 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36799,562,253 - 99,564,057 (+)NCBINCBI36Build 36hg18NCBI36
Celera794,459,580 - 94,461,384 (+)NCBICelera
Cytogenetic Map7q22.1NCBI
HuRef794,359,423 - 94,361,227 (+)NCBIHuRef
CHM1_1799,654,463 - 99,656,267 (+)NCBICHM1_1
T2T-CHM13v2.07101,366,818 - 101,368,346 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2799,084,436 - 99,086,240 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Biological Process

Cellular Component
cytoplasm  (IDA,IEA)
cytosol  (IEA)
nucleus  (IDA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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:12690205   PMID:28514442   PMID:29791485   PMID:30507380   PMID:32296183   PMID:32393512   PMID:33961781  


Genomics

Comparative Map Data
MBLAC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387100,126,967 - 100,128,495 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7100,126,785 - 100,128,495 (+)EnsemblGRCh38hg38GRCh38
GRCh37799,724,590 - 99,726,118 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36799,562,253 - 99,564,057 (+)NCBINCBI36Build 36hg18NCBI36
Celera794,459,580 - 94,461,384 (+)NCBICelera
Cytogenetic Map7q22.1NCBI
HuRef794,359,423 - 94,361,227 (+)NCBIHuRef
CHM1_1799,654,463 - 99,656,267 (+)NCBICHM1_1
T2T-CHM13v2.07101,366,818 - 101,368,346 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2799,084,436 - 99,086,240 (+)NCBI
Mblac1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395138,192,576 - 138,193,883 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5138,192,576 - 138,193,883 (+)EnsemblGRCm39 Ensembl
GRCm385138,194,314 - 138,195,621 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5138,194,314 - 138,195,621 (+)EnsemblGRCm38mm10GRCm38
MGSCv375138,635,542 - 138,636,628 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365138,424,102 - 138,425,188 (+)NCBIMGSCv36mm8
Celera5135,173,822 - 135,174,908 (+)NCBICelera
Cytogenetic Map5G2NCBI
cM Map576.98NCBI
Mblac1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81222,185,142 - 22,186,404 (+)NCBIGRCr8
mRatBN7.21217,071,465 - 17,072,736 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1217,071,465 - 17,072,735 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1217,894,823 - 17,896,085 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01218,518,568 - 18,519,830 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01217,571,974 - 17,573,236 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01219,335,841 - 19,337,103 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1219,335,841 - 19,337,102 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01221,393,471 - 21,394,733 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41217,636,473 - 17,637,735 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11217,625,994 - 17,627,256 (+)NCBI
Celera1219,001,603 - 19,002,865 (+)NCBICelera
Cytogenetic Map12q11NCBI
Mblac1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955573745,202 - 747,402 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955573745,202 - 747,402 (-)NCBIChiLan1.0ChiLan1.0
MBLAC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26118,045,877 - 118,047,865 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan17166,310,931 - 166,312,516 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0792,162,025 - 92,163,678 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17105,595,134 - 105,596,884 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7105,595,781 - 105,596,582 (+)Ensemblpanpan1.1panPan2
MBLAC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.169,473,599 - 9,475,162 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl69,473,135 - 9,474,613 (-)NCBICanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl69,473,135 - 9,474,613 (-)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.069,410,568 - 9,412,132 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl69,409,550 - 9,416,597 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.169,259,889 - 9,261,451 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.069,240,209 - 9,241,773 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.069,419,790 - 9,421,354 (-)NCBIUU_Cfam_GSD_1.0
Mblac1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344133,773,460 - 133,774,737 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936543262,033 - 262,848 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936543261,294 - 263,789 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MBLAC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl38,031,835 - 8,033,484 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.138,029,776 - 8,033,492 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
MBLAC1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12812,950,091 - 12,951,859 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2812,950,389 - 12,951,189 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660703,321,031 - 3,322,822 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mblac1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474016,870,789 - 16,871,574 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474016,870,490 - 16,871,646 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MBLAC1
18 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3 copy number gain See cases [RCV000053573] Chr7:98288474..101259804 [GRCh38]
Chr7:97917786..100903085 [GRCh37]
Chr7:97755722..100689805 [NCBI36]
Chr7:7q21.3-22.1		 pathogenic
GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1 copy number loss See cases [RCV000054154] Chr7:99219420..100902269 [GRCh38]
Chr7:98817043..100499889 [GRCh37]
Chr7:98654979..100337825 [NCBI36]
Chr7:7q22.1		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1 copy number loss See cases [RCV000135782] Chr7:99195836..102258175 [GRCh38]
Chr7:98793459..101718950 [GRCh37]
Chr7:98631395..101688175 [NCBI36]
Chr7:7q22.1		 pathogenic|uncertain significance
GRCh38/hg38 7q22.1(chr7:99195836-100348063)x3 copy number gain See cases [RCV000135630] Chr7:99195836..100348063 [GRCh38]
Chr7:98793459..99945686 [GRCh37]
Chr7:98631395..99783622 [NCBI36]
Chr7:7q22.1		 likely benign
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3		 pathogenic
GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3 copy number gain See cases [RCV000138109] Chr7:99932610..102473188 [GRCh38]
Chr7:99530233..102113635 [GRCh37]
Chr7:99368169..101900640 [NCBI36]
Chr7:7q22.1		 uncertain significance
GRCh38/hg38 7q22.1(chr7:99880388-100288453)x3 copy number gain See cases [RCV000142715] Chr7:99880388..100288453 [GRCh38]
Chr7:99478011..99886076 [GRCh37]
Chr7:99315947..99724012 [NCBI36]
Chr7:7q22.1		 likely benign|uncertain significance
GRCh37/hg19 7q22.1(chr7:99724620-99972850)x3 copy number gain See cases [RCV000240398] Chr7:99724620..99972850 [GRCh37]
Chr7:7q22.1		 uncertain significance
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1 copy number loss not provided [RCV000682904] Chr7:98847725..102472176 [GRCh37]
Chr7:7q22.1		 pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q22.1(chr7:99593346-102470275)x1 copy number loss See cases [RCV001195072] Chr7:99593346..102470275 [GRCh37]
Chr7:7q22.1		 likely pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327) copy number gain Isolated Pierre-Robin syndrome [RCV001352649] Chr7:87477185..100333327 [GRCh37]
Chr7:7q21.12-22.1		 pathogenic
GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308) copy number loss not specified [RCV002053711] Chr7:99417471..111586308 [GRCh37]
Chr7:7q22.1-31.1		 pathogenic
GRCh37/hg19 7q22.1(chr7:98755291-99886571)x3 copy number gain not provided [RCV001836489] Chr7:98755291..99886571 [GRCh37]
Chr7:7q22.1		 uncertain significance
NC_000007.13:g.(?_98983338)_(100860555_?)del deletion not provided [RCV001877526] Chr7:98983338..100860555 [GRCh37]
Chr7:7q22.1		 pathogenic|uncertain significance
NC_000007.13:g.(?_98507659)_(100860555_?)dup duplication not provided [RCV003113282] Chr7:98507659..100860555 [GRCh37]
Chr7:7q22.1		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_203397.3(MBLAC1):c.85G>C (p.Ala29Pro) single nucleotide variant not specified [RCV004316014] Chr7:100127480 [GRCh38]
Chr7:99725103 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_203397.3(MBLAC1):c.406G>A (p.Asp136Asn) single nucleotide variant not specified [RCV004186063] Chr7:100127801 [GRCh38]
Chr7:99725424 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_203397.3(MBLAC1):c.716G>C (p.Arg239Thr) single nucleotide variant not specified [RCV004213119] Chr7:100128111 [GRCh38]
Chr7:99725734 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_203397.3(MBLAC1):c.152C>A (p.Thr51Asn) single nucleotide variant not specified [RCV004116256] Chr7:100127547 [GRCh38]
Chr7:99725170 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_203397.3(MBLAC1):c.722C>G (p.Ala241Gly) single nucleotide variant not specified [RCV004149751] Chr7:100128117 [GRCh38]
Chr7:99725740 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_203397.3(MBLAC1):c.209C>T (p.Ala70Val) single nucleotide variant not specified [RCV004163388] Chr7:100127604 [GRCh38]
Chr7:99725227 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_203397.3(MBLAC1):c.466C>G (p.Arg156Gly) single nucleotide variant not specified [RCV004269946] Chr7:100127861 [GRCh38]
Chr7:99725484 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_203397.3(MBLAC1):c.323C>T (p.Thr108Met) single nucleotide variant not specified [RCV004323317] Chr7:100127718 [GRCh38]
Chr7:99725341 [GRCh37]
Chr7:7q22.1		 uncertain significance
GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1 copy number loss Multiple congenital anomalies/dysmorphic syndrome [RCV003327701] Chr7:98454022..100723798 [GRCh38]
Chr7:7q22.1		 pathogenic
GRCh37/hg19 7q22.1(chr7:99263437-100105272)x1 copy number loss not provided [RCV003482973] Chr7:99263437..100105272 [GRCh37]
Chr7:7q22.1		 uncertain significance
GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1 copy number loss not provided [RCV003482971] Chr7:99114000..101878272 [GRCh37]
Chr7:7q22.1		 pathogenic
GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1 copy number loss not specified [RCV003986701] Chr7:98396469..102108193 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_203397.3(MBLAC1):c.401C>T (p.Ser134Leu) single nucleotide variant not specified [RCV004418949] Chr7:100127796 [GRCh38]
Chr7:99725419 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_203397.3(MBLAC1):c.-28-1G>A single nucleotide variant Congenital long QT syndrome [RCV004733992] Chr7:100127367 [GRCh38]
Chr7:99724990 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NC_000007.13:g.(?_94024344)_(100860555_?)del deletion not provided [RCV004578536] Chr7:94024344..100860555 [GRCh37]
Chr7:7q21.3-22.1		 pathogenic
NM_203397.3(MBLAC1):c.212C>A (p.Ala71Asp) single nucleotide variant not specified [RCV004637756] Chr7:100127607 [GRCh38]
Chr7:99725230 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_203397.3(MBLAC1):c.76C>G (p.Gln26Glu) single nucleotide variant not specified [RCV004637754] Chr7:100127471 [GRCh38]
Chr7:99725094 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_203397.3(MBLAC1):c.694G>A (p.Gly232Arg) single nucleotide variant not specified [RCV004636608] Chr7:100128089 [GRCh38]
Chr7:99725712 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_203397.3(MBLAC1):c.269G>C (p.Arg90Pro) single nucleotide variant not specified [RCV004637753] Chr7:100127664 [GRCh38]
Chr7:99725287 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_203397.3(MBLAC1):c.347A>C (p.His116Pro) single nucleotide variant not specified [RCV004942582] Chr7:100127742 [GRCh38]
Chr7:99725365 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_203397.3(MBLAC1):c.365A>T (p.Asn122Ile) single nucleotide variant not specified [RCV004942583] Chr7:100127760 [GRCh38]
Chr7:99725383 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_203397.3(MBLAC1):c.560T>G (p.Val187Gly) single nucleotide variant not specified [RCV004942581] Chr7:100127955 [GRCh38]
Chr7:99725578 [GRCh37]
Chr7:7q22.1		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:702
Count of miRNA genes:509
Interacting mature miRNAs:578
Transcripts:ENST00000398075, ENST00000421390
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
407249431GWAS898407_Hhematocrit QTL GWAS898407 (human)2e-27hematocrithematocrit (CMO:0000037)7100127071100127072Human
597043294GWAS1139368_Hhemoglobin measurement QTL GWAS1139368 (human)6e-26hemoglobin measurementhemoglobin measurement (CMO:0000508)7100127071100127072Human

Markers in Region
RH99005  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37799,722,741 - 99,722,903UniSTSGRCh37
Build 36799,560,677 - 99,560,839RGDNCBI36
Celera794,458,004 - 94,458,166RGD
Cytogenetic Map7q22.1UniSTS
HuRef794,357,847 - 94,358,009UniSTS
CRA_TCAGchr7v2799,082,860 - 99,083,022UniSTS
GeneMap99-GB4 RH Map7516.34UniSTS
SHGC-57793  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37799,722,790 - 99,722,982UniSTSGRCh37
Build 36799,560,726 - 99,560,918RGDNCBI36
Celera794,458,053 - 94,458,245RGD
Cytogenetic Map7q22.1UniSTS
HuRef794,357,896 - 94,358,088UniSTS
CRA_TCAGchr7v2799,082,909 - 99,083,101UniSTS


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 2437 2788 2251 4972 1726 2351 5 624 1946 465 2269 7292 6461 53 3734 1 851 1743 1616 174 1

Sequence


Ensembl Acc Id: ENST00000398075   ⟹   ENSP00000381150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,126,967 - 100,128,495 (+)Ensembl
Ensembl Acc Id: ENST00000421390   ⟹   ENSP00000406055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,126,785 - 100,127,736 (+)Ensembl
RefSeq Acc Id: NM_203397   ⟹   NP_981942
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,126,967 - 100,128,495 (+)NCBI
GRCh37799,724,317 - 99,726,121 (+)RGD
Build 36799,562,253 - 99,564,057 (+)NCBI Archive
Celera794,459,580 - 94,461,384 (+)RGD
HuRef794,359,423 - 94,361,227 (+)ENTREZGENE
CHM1_1799,654,463 - 99,656,267 (+)NCBI
T2T-CHM13v2.07101,366,818 - 101,368,346 (+)NCBI
CRA_TCAGchr7v2799,084,436 - 99,086,240 (+)RGD
Sequence:
RefSeq Acc Id: XM_005250250   ⟹   XP_005250307
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,126,967 - 100,128,495 (+)NCBI
GRCh37799,724,317 - 99,726,121 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054357745   ⟹   XP_054213720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07101,366,893 - 101,368,346 (+)NCBI
RefSeq Acc Id: NP_981942   ⟸   NM_203397
- UniProtKB: Q8N5X8 (UniProtKB/Swiss-Prot),   A4D2B0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005250307   ⟸   XM_005250250
- Peptide Label: isoform X1
- UniProtKB: Q8N5X8 (UniProtKB/Swiss-Prot),   A4D2B0 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000381150   ⟸   ENST00000398075
Ensembl Acc Id: ENSP00000406055   ⟸   ENST00000421390
RefSeq Acc Id: XP_054213720   ⟸   XM_054357745
- Peptide Label: isoform X1
- UniProtKB: A4D2B0 (UniProtKB/Swiss-Prot),   Q8N5X8 (UniProtKB/Swiss-Prot)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A4D2B0-F1-model_v2 AlphaFold A4D2B0 1-266 view protein structure

Promoters
RGD ID:7211309
Promoter ID:EPDNEW_H11400
Type:initiation region
Name:MBLAC1_2
Description:metallo-beta-lactamase domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11401  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,126,750 - 100,126,810EPDNEW
RGD ID:7211311
Promoter ID:EPDNEW_H11401
Type:initiation region
Name:MBLAC1_1
Description:metallo-beta-lactamase domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11400  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,126,967 - 100,127,027EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:22180 AgrOrtholog
COSMIC MBLAC1 COSMIC
Ensembl Genes ENSG00000214309 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000398075 ENTREZGENE
  ENST00000398075.4 UniProtKB/Swiss-Prot
  ENST00000421390.1 UniProtKB/TrEMBL
Gene3D-CATH 3.60.15.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000214309 GTEx
HGNC ID HGNC:22180 ENTREZGENE
Human Proteome Map MBLAC1 Human Proteome Map
InterPro MBLAC1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Metallo-B-lactamas UniProtKB/Swiss-Prot
  RibonucZ/Hydroxyglut_hydro UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:255374 UniProtKB/Swiss-Prot
NCBI Gene 255374 ENTREZGENE
OMIM 620906 OMIM
PANTHER METALLO-BETA-LACTAMASE DOMAIN-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR23200 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Lactamase_B UniProtKB/Swiss-Prot
PharmGKB PA164722227 PharmGKB
SMART Lactamase_B UniProtKB/Swiss-Prot
Superfamily-SCOP SSF56281 UniProtKB/Swiss-Prot
UniProt A4D2B0 ENTREZGENE
  C9JAV3_HUMAN UniProtKB/TrEMBL
  MBLC1_HUMAN UniProtKB/Swiss-Prot
  Q8N5X8 ENTREZGENE
UniProt Secondary Q8N5X8 UniProtKB/Swiss-Prot