AMZ1 (archaelysin family metallopeptidase 1) - Rat Genome Database

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Gene: AMZ1 (archaelysin family metallopeptidase 1) Homo sapiens
Analyze
Symbol: AMZ1
Name: archaelysin family metallopeptidase 1
RGD ID: 1605859
HGNC Page HGNC:22231
Description: Predicted to enable metal ion binding activity and metallopeptidase activity. Predicted to be involved in proteolysis.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: archaemetzincin-1; archeobacterial metalloproteinase-like protein 1; KIAA1950; metalloproteinase-like protein
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
GRCh3872,679,522 - 2,765,138 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl72,679,522 - 2,775,500 (+)EnsemblGRCh38hg38GRCh38
GRCh3772,719,156 - 2,804,772 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3672,685,689 - 2,721,595 (+)NCBINCBI36Build 36hg18NCBI36
Celera72,688,040 - 2,723,669 (+)NCBICelera
Cytogenetic Map7p22.3NCBI
HuRef72,637,589 - 2,673,630 (+)NCBIHuRef
CHM1_172,718,766 - 2,754,734 (+)NCBICHM1_1
T2T-CHM13v2.072,793,043 - 2,878,689 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v272,767,050 - 2,802,975 (+)NCBI
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

Biological Process
proteolysis  (IEA)

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:11853319   PMID:12477932   PMID:12690205   PMID:14702039   PMID:23563607   PMID:28514442   PMID:28625976   PMID:29507755   PMID:33961781  


Genomics

Comparative Map Data
AMZ1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3872,679,522 - 2,765,138 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl72,679,522 - 2,775,500 (+)EnsemblGRCh38hg38GRCh38
GRCh3772,719,156 - 2,804,772 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3672,685,689 - 2,721,595 (+)NCBINCBI36Build 36hg18NCBI36
Celera72,688,040 - 2,723,669 (+)NCBICelera
Cytogenetic Map7p22.3NCBI
HuRef72,637,589 - 2,673,630 (+)NCBIHuRef
CHM1_172,718,766 - 2,754,734 (+)NCBICHM1_1
T2T-CHM13v2.072,793,043 - 2,878,689 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v272,767,050 - 2,802,975 (+)NCBI
Amz1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395140,709,882 - 140,739,067 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5140,709,882 - 140,747,194 (+)EnsemblGRCm39 Ensembl
GRCm385140,724,127 - 140,753,312 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5140,724,127 - 140,761,439 (+)EnsemblGRCm38mm10GRCm38
MGSCv375141,200,081 - 141,229,266 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365140,976,601 - 141,005,784 (+)NCBIMGSCv36mm8
Celera5137,784,540 - 137,814,954 (+)NCBICelera
Cytogenetic Map5G2NCBI
cM Map579.27NCBI
Amz1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81219,000,448 - 19,038,625 (-)NCBIGRCr8
mRatBN7.21213,886,518 - 13,924,275 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1213,891,123 - 13,909,783 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1214,700,150 - 14,717,979 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01215,323,419 - 15,341,247 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01214,350,355 - 14,368,182 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01215,975,211 - 16,011,238 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1215,976,079 - 16,002,788 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01217,974,183 - 18,008,800 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41214,362,469 - 14,380,322 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11214,392,396 - 14,410,268 (-)NCBI
Celera1215,652,579 - 15,669,927 (-)NCBICelera
Cytogenetic Map12q11NCBI
Amz1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546012,633,405 - 12,649,746 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495546012,631,296 - 12,649,891 (-)NCBIChiLan1.0ChiLan1.0
AMZ1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v267,636,837 - 7,684,755 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1755,961,537 - 56,009,455 (+)NCBINHGRI_mPanPan1
PanPan1.1 Ensembl73,031,977 - 3,069,466 (+)Ensemblpanpan1.1panPan2
AMZ1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1614,483,001 - 14,509,346 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl614,485,541 - 14,500,339 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha615,945,199 - 15,971,020 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0614,608,451 - 14,634,285 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl614,608,713 - 14,634,066 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1614,413,888 - 14,439,512 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0614,341,288 - 14,366,854 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0614,626,988 - 14,652,613 (-)NCBIUU_Cfam_GSD_1.0
Amz1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344142,609,016 - 142,636,843 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936823430,169 - 438,149 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936823429,638 - 440,489 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AMZ1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl31,963,896 - 1,994,169 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.131,964,095 - 1,993,168 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.232,029,606 - 2,086,656 (-)NCBISscrofa10.2Sscrofa10.2susScr3
AMZ1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12818,900,176 - 18,940,034 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2818,906,943 - 18,931,321 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660902,833,298 - 2,874,853 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Amz1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474030,251,207 - 30,275,710 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474030,248,461 - 30,279,413 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AMZ1
100 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1		 pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1 copy number loss See cases [RCV000052249] Chr7:45130..5880375 [GRCh38]
Chr7:45130..5920006 [GRCh37]
Chr7:140213..5886532 [NCBI36]
Chr7:7p22.3-22.1		 pathogenic
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 7p22.3-22.1(chr7:45130-6270185)x3 copy number gain See cases [RCV000053527] Chr7:45130..6270185 [GRCh38]
Chr7:45130..6309816 [GRCh37]
Chr7:140213..6276341 [NCBI36]
Chr7:7p22.3-22.1		 pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3 copy number gain See cases [RCV000053528] Chr7:53985..24361531 [GRCh38]
Chr7:53985..24401150 [GRCh37]
Chr7:149068..24367675 [NCBI36]
Chr7:7p22.3-15.3		 pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:54185-8274834)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|See cases [RCV000053529] Chr7:54185..8274834 [GRCh38]
Chr7:54185..8314464 [GRCh37]
Chr7:149268..8280989 [NCBI36]
Chr7:7p22.3-21.3		 pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2		 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 7p22.3-15.2(chr7:54185-26827634)x3 copy number gain See cases [RCV000136557] Chr7:54185..26827634 [GRCh38]
Chr7:54185..26867253 [GRCh37]
Chr7:149268..26833778 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p22.3-22.2(chr7:54185-3324143)x1 copy number loss See cases [RCV000136789] Chr7:54185..3324143 [GRCh38]
Chr7:54185..3363775 [GRCh37]
Chr7:149268..3330301 [NCBI36]
Chr7:7p22.3-22.2		 pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3 copy number gain See cases [RCV000136731] Chr7:54185..6638027 [GRCh38]
Chr7:54185..6677658 [GRCh37]
Chr7:149268..6644183 [NCBI36]
Chr7:7p22.3-22.1		 pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3 copy number gain See cases [RCV000137524] Chr7:45130..7252065 [GRCh38]
Chr7:45130..7291696 [GRCh37]
Chr7:140213..7258221 [NCBI36]
Chr7:7p22.3-21.3		 pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3 copy number gain See cases [RCV000137824] Chr7:45130..25221165 [GRCh38]
Chr7:45130..25260784 [GRCh37]
Chr7:140213..25227309 [NCBI36]
Chr7:7p22.3-15.3		 pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3 copy number gain See cases [RCV000143060] Chr7:1698124..27207295 [GRCh38]
Chr7:1737760..27246914 [GRCh37]
Chr7:1704286..27213439 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p22.3-22.2(chr7:54165-3258775)x1 copy number loss See cases [RCV000142995] Chr7:54165..3258775 [GRCh38]
Chr7:54165..3298407 [GRCh37]
Chr7:149248..3264933 [NCBI36]
Chr7:7p22.3-22.2		 pathogenic
GRCh38/hg38 7p22.3-22.2(chr7:45130-3406236)x3 copy number gain See cases [RCV000143175] Chr7:45130..3406236 [GRCh38]
Chr7:45130..3445868 [GRCh37]
Chr7:140213..3412394 [NCBI36]
Chr7:7p22.3-22.2		 uncertain significance
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 copy number gain See cases [RCV000143586] Chr7:43360..27196404 [GRCh38]
Chr7:43360..27236023 [GRCh37]
Chr7:138443..27202548 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh37/hg19 7p22.3-22.2(chr7:1004794-4063934)x4 copy number gain See cases [RCV000240233] Chr7:1004794..4063934 [GRCh37]
Chr7:7p22.3-22.2		 uncertain significance
NM_007353.3(GNA12):c.649G>A (p.Val217Ile) single nucleotide variant not specified [RCV004256731] Chr7:2731678 [GRCh38]
Chr7:2771312 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3-22.1(chr7:43360-5443709)x3 copy number gain See cases [RCV000449281] Chr7:43360..5443709 [GRCh37]
Chr7:7p22.3-22.1		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3 copy number gain See cases [RCV000449446] Chr7:183556..12746636 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43360-17656861)x3 copy number gain See cases [RCV000449347] Chr7:43360..17656861 [GRCh37]
Chr7:7p22.3-21.1		 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 7p22.3-22.2(chr7:43360-2825753)x3 copy number gain See cases [RCV000447222] Chr7:43360..2825753 [GRCh37]
Chr7:7p22.3-22.2		 likely pathogenic
GRCh37/hg19 7p22.3-22.2(chr7:2623826-3772851)x3 copy number gain See cases [RCV000447357] Chr7:2623826..3772851 [GRCh37]
Chr7:7p22.3-22.2		 uncertain significance
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 7p22.3-15.3(chr7:43360-23674928)x3 copy number gain See cases [RCV000510652] Chr7:43360..23674928 [GRCh37]
Chr7:7p22.3-15.3		 pathogenic
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 copy number gain See cases [RCV000510275] Chr7:704573..29257946 [GRCh37]
Chr7:7p22.3-14.3		 pathogenic
GRCh37/hg19 7p22.3-22.2(chr7:43360-3642604)x1 copy number loss See cases [RCV000511648] Chr7:43360..3642604 [GRCh37]
Chr7:7p22.3-22.2		 pathogenic
GRCh37/hg19 7p22.3-22.2(chr7:2408769-2987197)x3 copy number gain See cases [RCV000512034] Chr7:2408769..2987197 [GRCh37]
Chr7:7p22.3-22.2		 uncertain significance
GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3 copy number gain See cases [RCV000511772] Chr7:43360..14664158 [GRCh37]
Chr7:7p22.3-21.2		 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 7p22.3-21.3(chr7:43360-12098696)x3 copy number gain See cases [RCV000510950] Chr7:43360..12098696 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
NM_001384743.1(AMZ1):c.995A>G (p.Gln332Arg) single nucleotide variant not specified [RCV004324968] Chr7:2712376 [GRCh38]
Chr7:2752010 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3 copy number gain See cases [RCV000512505] Chr7:43360..11567351 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-22.1(chr7:1201674-5175651)x1 copy number loss See cases [RCV000512351] Chr7:1201674..5175651 [GRCh37]
Chr7:7p22.3-22.1		 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 7p22.3-22.2(chr7:2605333-3559826)x3 copy number gain not provided [RCV000746343] Chr7:2605333..3559826 [GRCh37]
Chr7:7p22.3-22.2		 benign
GRCh37/hg19 7p22.3(chr7:2745124-2758309)x3 copy number gain not provided [RCV000746345] Chr7:2745124..2758309 [GRCh37]
Chr7:7p22.3		 benign
GRCh37/hg19 7p22.3(chr7:2749278-2752346)x1 copy number loss not provided [RCV000746346] Chr7:2749278..2752346 [GRCh37]
Chr7:7p22.3		 benign
GRCh37/hg19 7p22.3(chr7:2749278-2752383)x1 copy number loss not provided [RCV000746347] Chr7:2749278..2752383 [GRCh37]
Chr7:7p22.3		 benign
GRCh37/hg19 7p22.3(chr7:2749278-2752478)x1 copy number loss not provided [RCV000746348] Chr7:2749278..2752478 [GRCh37]
Chr7:7p22.3		 benign
GRCh37/hg19 7p22.3(chr7:2751963-2752487)x0 copy number loss not provided [RCV000746349] Chr7:2751963..2752487 [GRCh37]
Chr7:7p22.3		 benign
GRCh37/hg19 7p22.3(chr7:2752046-2752487)x1 copy number loss not provided [RCV000746350] Chr7:2752046..2752487 [GRCh37]
Chr7:7p22.3		 benign
GRCh37/hg19 7p22.3-21.3(chr7:10239-13116278)x3 copy number gain not provided [RCV000746277] Chr7:10239..13116278 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
NM_001384743.1(AMZ1):c.1431G>C (p.Lys477Asn) single nucleotide variant not specified [RCV004288335] Chr7:2712812 [GRCh38]
Chr7:2752446 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.845C>T (p.Ala282Val) single nucleotide variant not specified [RCV004293573] Chr7:2709713 [GRCh38]
Chr7:2749347 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.1307C>T (p.Ala436Val) single nucleotide variant not provided [RCV000893195] Chr7:2712688 [GRCh38]
Chr7:2752322 [GRCh37]
Chr7:7p22.3		 benign
NM_001384743.1(AMZ1):c.737G>C (p.Cys246Ser) single nucleotide variant not provided [RCV000880436] Chr7:2709210 [GRCh38]
Chr7:2748844 [GRCh37]
Chr7:7p22.3		 benign
NM_001384743.1(AMZ1):c.1050G>A (p.Ser350=) single nucleotide variant not provided [RCV000969025] Chr7:2712431 [GRCh38]
Chr7:2752065 [GRCh37]
Chr7:7p22.3		 benign
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
NM_007353.3(GNA12):c.978C>T (p.Asp326=) single nucleotide variant not provided [RCV000965035] Chr7:2731349 [GRCh38]
Chr7:2770983 [GRCh37]
Chr7:7p22.3		 benign
NM_001384743.1(AMZ1):c.602-11TC[3] microsatellite not provided [RCV000962194] Chr7:2709064..2709065 [GRCh38]
Chr7:2748698..2748699 [GRCh37]
Chr7:7p22.3		 benign
NM_001384743.1(AMZ1):c.1441C>T (p.Arg481Ter) single nucleotide variant not provided [RCV000903027] Chr7:2712822 [GRCh38]
Chr7:2752456 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001384743.1(AMZ1):c.661G>A (p.Ala221Thr) single nucleotide variant not provided [RCV000943118] Chr7:2709134 [GRCh38]
Chr7:2748768 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001384743.1(AMZ1):c.1140G>A (p.Gly380=) single nucleotide variant not provided [RCV000880025] Chr7:2712521 [GRCh38]
Chr7:2752155 [GRCh37]
Chr7:7p22.3		 benign
NM_001384743.1(AMZ1):c.871C>T (p.Arg291Trp) single nucleotide variant not specified [RCV004289177] Chr7:2709739 [GRCh38]
Chr7:2749373 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3-22.2(chr7:2592664-2972798)x3 copy number gain not provided [RCV000847579] Chr7:2592664..2972798 [GRCh37]
Chr7:7p22.3-22.2		 uncertain significance
NM_001384743.1(AMZ1):c.1181C>T (p.Pro394Leu) single nucleotide variant not provided [RCV000893996] Chr7:2712562 [GRCh38]
Chr7:2752196 [GRCh37]
Chr7:7p22.3		 likely benign
GRCh37/hg19 7p22.3-22.2(chr7:36616-4298168)x1 copy number loss not provided [RCV000849273] Chr7:36616..4298168 [GRCh37]
Chr7:7p22.3-22.2		 pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3 copy number gain not provided [RCV000848100] Chr7:43376..19520619 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
NM_001384743.1(AMZ1):c.908T>G (p.Leu303Arg) single nucleotide variant not specified [RCV004282312] Chr7:2709776 [GRCh38]
Chr7:2749410 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.1038C>T (p.Ala346=) single nucleotide variant not provided [RCV000888728] Chr7:2712419 [GRCh38]
Chr7:2752053 [GRCh37]
Chr7:7p22.3		 benign
NM_001384743.1(AMZ1):c.972G>A (p.Ala324=) single nucleotide variant not provided [RCV000963628] Chr7:2712353 [GRCh38]
Chr7:2751987 [GRCh37]
Chr7:7p22.3		 benign
NM_001384743.1(AMZ1):c.507A>G (p.Pro169=) single nucleotide variant not provided [RCV000933232] Chr7:2708622 [GRCh38]
Chr7:2748256 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001384743.1(AMZ1):c.680T>C (p.Val227Ala) single nucleotide variant not provided [RCV000898993] Chr7:2709153 [GRCh38]
Chr7:2748787 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001384743.1(AMZ1):c.1315C>T (p.Arg439Cys) single nucleotide variant not provided [RCV000889672] Chr7:2712696 [GRCh38]
Chr7:2752330 [GRCh37]
Chr7:7p22.3		 benign
GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3 copy number gain not provided [RCV001005891] Chr7:1648373..10627513 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NC_000007.13:g.(?_2552269)_(2998160_?)del deletion Severe combined immunodeficiency due to CARD11 deficiency [RCV001387909] Chr7:2552269..2998160 [GRCh37]
Chr7:7p22.3-22.2		 pathogenic
NC_000007.13:g.(?_2577703)_(2972240_?)dup duplication Severe combined immunodeficiency due to CARD11 deficiency [RCV003122869] Chr7:2577703..2972240 [GRCh37]
Chr7:7p22.3-22.2		 uncertain significance
NM_007353.3(GNA12):c.1075G>A (p.Val359Ile) single nucleotide variant not specified [RCV004334054] Chr7:2731252 [GRCh38]
Chr7:2770886 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001384743.1(AMZ1):c.871C>G (p.Arg291Gly) single nucleotide variant not specified [RCV004263170] Chr7:2709739 [GRCh38]
Chr7:2749373 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.1081G>A (p.Gly361Ser) single nucleotide variant not specified [RCV004327991] Chr7:2712462 [GRCh38]
Chr7:2752096 [GRCh37]
Chr7:7p22.3		 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
GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3 copy number gain See cases [RCV002292426] Chr7:43360..9649794 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
NM_001384743.1(AMZ1):c.454A>G (p.Arg152Gly) single nucleotide variant not specified [RCV004309679] Chr7:2702871 [GRCh38]
Chr7:2742505 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3 copy number gain See cases [RCV002287567] Chr7:43360..19485604 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
NM_001384743.1(AMZ1):c.729G>C (p.Trp243Cys) single nucleotide variant not specified [RCV004328629] Chr7:2709202 [GRCh38]
Chr7:2748836 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.1402G>A (p.Gly468Arg) single nucleotide variant not specified [RCV004156995] Chr7:2712783 [GRCh38]
Chr7:2752417 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.37G>A (p.Gly13Arg) single nucleotide variant not specified [RCV004134085] Chr7:2700488 [GRCh38]
Chr7:2740122 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.398C>T (p.Pro133Leu) single nucleotide variant not specified [RCV004193549] Chr7:2702815 [GRCh38]
Chr7:2742449 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.862G>C (p.Ala288Pro) single nucleotide variant not specified [RCV004207561] Chr7:2709730 [GRCh38]
Chr7:2749364 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_007353.3(GNA12):c.785T>C (p.Met262Thr) single nucleotide variant not specified [RCV004141159] Chr7:2731542 [GRCh38]
Chr7:2771176 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.935T>C (p.Ile312Thr) single nucleotide variant not specified [RCV004192109] Chr7:2709803 [GRCh38]
Chr7:2749437 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.1030C>G (p.Pro344Ala) single nucleotide variant not specified [RCV004113725] Chr7:2712411 [GRCh38]
Chr7:2752045 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.625C>T (p.Arg209Trp) single nucleotide variant not specified [RCV004220423] Chr7:2709098 [GRCh38]
Chr7:2748732 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.19G>T (p.Ala7Ser) single nucleotide variant not specified [RCV004232806] Chr7:2700470 [GRCh38]
Chr7:2740104 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.1471C>T (p.Arg491Cys) single nucleotide variant not specified [RCV004214121] Chr7:2712852 [GRCh38]
Chr7:2752486 [GRCh37]
Chr7:7p22.3		 likely benign
NM_007353.3(GNA12):c.1063G>T (p.Asp355Tyr) single nucleotide variant not specified [RCV004187572] Chr7:2731264 [GRCh38]
Chr7:2770898 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.215A>C (p.Glu72Ala) single nucleotide variant not specified [RCV004134027] Chr7:2700666 [GRCh38]
Chr7:2740300 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.974T>C (p.Val325Ala) single nucleotide variant not specified [RCV004095288] Chr7:2712355 [GRCh38]
Chr7:2751989 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_007353.3(GNA12):c.974A>C (p.Glu325Ala) single nucleotide variant not specified [RCV004162681] Chr7:2731353 [GRCh38]
Chr7:2770987 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.1204G>A (p.Glu402Lys) single nucleotide variant not specified [RCV004163311] Chr7:2712585 [GRCh38]
Chr7:2752219 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.1390C>T (p.Arg464Cys) single nucleotide variant not specified [RCV004107315] Chr7:2712771 [GRCh38]
Chr7:2752405 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.443G>A (p.Arg148Gln) single nucleotide variant not specified [RCV004229129] Chr7:2702860 [GRCh38]
Chr7:2742494 [GRCh37]
Chr7:7p22.3		 likely benign
NM_007353.3(GNA12):c.1025G>T (p.Arg342Leu) single nucleotide variant not specified [RCV004244116] Chr7:2731302 [GRCh38]
Chr7:2770936 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.299C>T (p.Pro100Leu) single nucleotide variant not specified [RCV004196550] Chr7:2700750 [GRCh38]
Chr7:2740384 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.931C>T (p.Leu311Phe) single nucleotide variant not specified [RCV004118401] Chr7:2709799 [GRCh38]
Chr7:2749433 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.244G>A (p.Ala82Thr) single nucleotide variant not specified [RCV004157348] Chr7:2700695 [GRCh38]
Chr7:2740329 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.1127C>T (p.Thr376Ile) single nucleotide variant not specified [RCV004094355] Chr7:2712508 [GRCh38]
Chr7:2752142 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.320C>T (p.Pro107Leu) single nucleotide variant not specified [RCV004218979] Chr7:2702737 [GRCh38]
Chr7:2742371 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.1381G>A (p.Val461Met) single nucleotide variant not specified [RCV004230922] Chr7:2712762 [GRCh38]
Chr7:2752396 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_007353.3(GNA12):c.986G>A (p.Arg329His) single nucleotide variant not specified [RCV004266461] Chr7:2731341 [GRCh38]
Chr7:2770975 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.1088G>A (p.Ser363Asn) single nucleotide variant not specified [RCV004267430] Chr7:2712469 [GRCh38]
Chr7:2752103 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.56A>T (p.Asp19Val) single nucleotide variant not specified [RCV004275424] Chr7:2700507 [GRCh38]
Chr7:2740141 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.325G>A (p.Gly109Arg) single nucleotide variant not specified [RCV004287001] Chr7:2702742 [GRCh38]
Chr7:2742376 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.57C>A (p.Asp19Glu) single nucleotide variant not specified [RCV004275425] Chr7:2700508 [GRCh38]
Chr7:2740142 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.961T>C (p.Trp321Arg) single nucleotide variant not specified [RCV004273489] Chr7:2712342 [GRCh38]
Chr7:2751976 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.1172C>T (p.Ser391Leu) single nucleotide variant not specified [RCV004281119] Chr7:2712553 [GRCh38]
Chr7:2752187 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.463C>T (p.Leu155Phe) single nucleotide variant not specified [RCV004252876] Chr7:2702880 [GRCh38]
Chr7:2742514 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.484T>A (p.Ser162Thr) single nucleotide variant not specified [RCV004328320] Chr7:2708599 [GRCh38]
Chr7:2748233 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.723G>T (p.Arg241Ser) single nucleotide variant not specified [RCV004328322] Chr7:2709196 [GRCh38]
Chr7:2748830 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.337C>A (p.Leu113Met) single nucleotide variant not specified [RCV004348722] Chr7:2702754 [GRCh38]
Chr7:2742388 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.1180C>A (p.Pro394Thr) single nucleotide variant not specified [RCV004362445] Chr7:2712561 [GRCh38]
Chr7:2752195 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.802G>A (p.Gly268Ser) single nucleotide variant not specified [RCV004356409] Chr7:2709670 [GRCh38]
Chr7:2749304 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3-22.1(chr7:43361-5965440)x3 copy number gain not provided [RCV003484666] Chr7:43361..5965440 [GRCh37]
Chr7:7p22.3-22.1		 pathogenic
GRCh37/hg19 7p22.3-22.2(chr7:2380155-2885274)x3 copy number gain not provided [RCV003484672] Chr7:2380155..2885274 [GRCh37]
Chr7:7p22.3-22.2		 uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3 copy number gain not provided [RCV003484665] Chr7:43361..8890475 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-22.2(chr7:2409035-2850679)x3 copy number gain not provided [RCV003484673] Chr7:2409035..2850679 [GRCh37]
Chr7:7p22.3-22.2		 uncertain significance
NM_001384743.1(AMZ1):c.1368C>A (p.Ser456Arg) single nucleotide variant not provided [RCV003423521] Chr7:2712749 [GRCh38]
Chr7:2752383 [GRCh37]
Chr7:7p22.3		 likely benign
GRCh37/hg19 7p22.3-22.2(chr7:2163435-2987198)x3 copy number gain not specified [RCV003986709] Chr7:2163435..2987198 [GRCh37]
Chr7:7p22.3-22.2		 uncertain significance
GRCh37/hg19 7p22.3-22.2(chr7:2088540-3127784)x3 copy number gain not specified [RCV003986692] Chr7:2088540..3127784 [GRCh37]
Chr7:7p22.3-22.2		 uncertain significance
NM_001384743.1(AMZ1):c.1073C>T (p.Ser358Leu) single nucleotide variant not specified [RCV004407214] Chr7:2712454 [GRCh38]
Chr7:2752088 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.689C>T (p.Ala230Val) single nucleotide variant not specified [RCV004407267] Chr7:2709162 [GRCh38]
Chr7:2748796 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.1484G>T (p.Gly495Val) single nucleotide variant not specified [RCV004407239] Chr7:2712865 [GRCh38]
Chr7:2752499 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.1471C>G (p.Arg491Gly) single nucleotide variant not specified [RCV004407238] Chr7:2712852 [GRCh38]
Chr7:2752486 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_007353.3(GNA12):c.1006G>A (p.Asp336Asn) single nucleotide variant not specified [RCV004395418] Chr7:2731321 [GRCh38]
Chr7:2770955 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.1136C>T (p.Ser379Leu) single nucleotide variant not specified [RCV004407222] Chr7:2712517 [GRCh38]
Chr7:2752151 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.1304A>G (p.Asp435Gly) single nucleotide variant not specified [RCV004407226] Chr7:2712685 [GRCh38]
Chr7:2752319 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.1352G>A (p.Arg451Lys) single nucleotide variant not specified [RCV004407231] Chr7:2712733 [GRCh38]
Chr7:2752367 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.1354C>G (p.Gln452Glu) single nucleotide variant not specified [RCV004407233] Chr7:2712735 [GRCh38]
Chr7:2752369 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.858C>A (p.Asp286Glu) single nucleotide variant not specified [RCV004407275] Chr7:2709726 [GRCh38]
Chr7:2749360 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.859G>C (p.Glu287Gln) single nucleotide variant not specified [RCV004407279] Chr7:2709727 [GRCh38]
Chr7:2749361 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.563C>A (p.Ala188Asp) single nucleotide variant not specified [RCV004407258] Chr7:2708678 [GRCh38]
Chr7:2748312 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.872G>C (p.Arg291Pro) single nucleotide variant not specified [RCV004407296] Chr7:2709740 [GRCh38]
Chr7:2749374 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001384743.1(AMZ1):c.442C>T (p.Arg148Trp) single nucleotide variant not specified [RCV004407248] Chr7:2702859 [GRCh38]
Chr7:2742493 [GRCh37]
Chr7:7p22.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3088
Count of miRNA genes:1125
Interacting mature miRNAs:1464
Transcripts:ENST00000312371, ENST00000407112, ENST00000480560, ENST00000485540, ENST00000489665
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.

Markers in Region
STS-H96670  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3772,753,783 - 2,753,909UniSTSGRCh37
Build 3672,720,309 - 2,720,435RGDNCBI36
Celera72,722,383 - 2,722,509RGD
Cytogenetic Map7p22.3UniSTS
HuRef72,672,344 - 2,672,470UniSTS
CRA_TCAGchr7v272,801,689 - 2,801,815UniSTS
GeneMap99-GB4 RH Map723.13UniSTS
NCBI RH Map785.7UniSTS


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
High
Medium 2 3 2 10 7 4 4
Low 81 560 292 53 684 53 518 34 2953 56 677 328 5 18 359 3
Below cutoff 2279 2301 1342 498 1124 342 3640 1951 758 283 734 1225 162 1 1181 2268 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001284355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_133463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB075830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ635357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC146753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF514395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000312371   ⟹   ENSP00000308149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl72,679,522 - 2,716,529 (+)Ensembl
RefSeq Acc Id: ENST00000407112   ⟹   ENSP00000386020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl72,688,202 - 2,713,100 (+)Ensembl
RefSeq Acc Id: ENST00000433945
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl72,764,608 - 2,775,500 (+)Ensembl
RefSeq Acc Id: ENST00000480560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl72,702,476 - 2,709,114 (+)Ensembl
RefSeq Acc Id: ENST00000485540
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl72,702,021 - 2,709,189 (+)Ensembl
RefSeq Acc Id: ENST00000489665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl72,702,530 - 2,765,125 (+)Ensembl
RefSeq Acc Id: ENST00000683327   ⟹   ENSP00000506962
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl72,688,202 - 2,719,683 (+)Ensembl
RefSeq Acc Id: NM_001284355   ⟹   NP_001271284
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,688,202 - 2,719,683 (+)NCBI
HuRef72,637,582 - 2,673,631 (+)NCBI
CHM1_172,727,442 - 2,755,830 (+)NCBI
T2T-CHM13v2.072,801,725 - 2,833,227 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321766   ⟹   NP_001308695
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,688,202 - 2,765,138 (+)NCBI
CHM1_172,727,442 - 2,804,455 (+)NCBI
T2T-CHM13v2.072,801,725 - 2,878,689 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384739   ⟹   NP_001371668
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,688,202 - 2,719,683 (+)NCBI
T2T-CHM13v2.072,801,725 - 2,833,227 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384740   ⟹   NP_001371669
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,688,202 - 2,739,830 (+)NCBI
T2T-CHM13v2.072,801,725 - 2,853,378 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384741   ⟹   NP_001371670
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,688,202 - 2,733,682 (+)NCBI
T2T-CHM13v2.072,801,725 - 2,847,228 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384742   ⟹   NP_001371671
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,679,522 - 2,727,064 (+)NCBI
T2T-CHM13v2.072,793,043 - 2,840,608 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384743   ⟹   NP_001371672
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,688,202 - 2,719,683 (+)NCBI
T2T-CHM13v2.072,801,725 - 2,833,227 (+)NCBI
Sequence:
RefSeq Acc Id: NM_133463   ⟹   NP_597720
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,679,522 - 2,719,683 (+)NCBI
GRCh3772,719,163 - 2,755,069 (+)RGD
Build 3672,685,689 - 2,721,595 (+)NCBI Archive
Celera72,688,040 - 2,723,669 (+)RGD
HuRef72,637,582 - 2,673,631 (+)NCBI
CHM1_172,718,759 - 2,755,830 (+)NCBI
T2T-CHM13v2.072,793,043 - 2,833,227 (+)NCBI
CRA_TCAGchr7v272,767,050 - 2,802,975 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_011515151   ⟹   XP_011513453
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,679,522 - 2,765,138 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017011774   ⟹   XP_016867263
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,688,202 - 2,765,138 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017011776   ⟹   XP_016867265
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,679,522 - 2,709,443 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047419926   ⟹   XP_047275882
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,679,522 - 2,719,683 (+)NCBI
RefSeq Acc Id: XM_054357355   ⟹   XP_054213330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.072,793,043 - 2,878,689 (+)NCBI
RefSeq Acc Id: XM_054357356   ⟹   XP_054213331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.072,801,725 - 2,878,689 (+)NCBI
RefSeq Acc Id: XM_054357357   ⟹   XP_054213332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.072,793,043 - 2,833,227 (+)NCBI
RefSeq Acc Id: XM_054357358   ⟹   XP_054213333
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.072,793,043 - 2,823,267 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001271284 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308695 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371668 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371669 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371670 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371671 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371672 (Get FASTA)   NCBI Sequence Viewer  
  NP_597720 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513453 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867263 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867265 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275882 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213330 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213331 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213332 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213333 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI46754 (Get FASTA)   NCBI Sequence Viewer  
  BAB85536 (Get FASTA)   NCBI Sequence Viewer  
  BAF82412 (Get FASTA)   NCBI Sequence Viewer  
  BAG52482 (Get FASTA)   NCBI Sequence Viewer  
  BAG58651 (Get FASTA)   NCBI Sequence Viewer  
  CAG25749 (Get FASTA)   NCBI Sequence Viewer  
  EAL23959 (Get FASTA)   NCBI Sequence Viewer  
  EAW87269 (Get FASTA)   NCBI Sequence Viewer  
  EAW87270 (Get FASTA)   NCBI Sequence Viewer  
  EAW87271 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000308149
  ENSP00000308149.4
  ENSP00000386020
  ENSP00000386020.1
  ENSP00000506962
  ENSP00000506962.1
GenBank Protein Q400G9 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_597720   ⟸   NM_133463
- Peptide Label: isoform 1
- UniProtKB: B3KRS0 (UniProtKB/Swiss-Prot),   Q8TF51 (UniProtKB/Swiss-Prot),   Q400G9 (UniProtKB/Swiss-Prot),   A4D202 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001271284   ⟸   NM_001284355
- Peptide Label: isoform 2
- UniProtKB: Q400G9 (UniProtKB/Swiss-Prot),   A4D202 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011513453   ⟸   XM_011515151
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001308695   ⟸   NM_001321766
- Peptide Label: isoform 3
- UniProtKB: Q400G9 (UniProtKB/Swiss-Prot),   A4D202 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016867265   ⟸   XM_017011776
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016867263   ⟸   XM_017011774
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000308149   ⟸   ENST00000312371
RefSeq Acc Id: ENSP00000386020   ⟸   ENST00000407112
RefSeq Acc Id: NP_001371671   ⟸   NM_001384742
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001371669   ⟸   NM_001384740
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001371670   ⟸   NM_001384741
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001371672   ⟸   NM_001384743
- Peptide Label: isoform 1
- UniProtKB: Q400G9 (UniProtKB/Swiss-Prot),   B3KRS0 (UniProtKB/Swiss-Prot),   Q8TF51 (UniProtKB/Swiss-Prot),   A4D202 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371668   ⟸   NM_001384739
- Peptide Label: isoform 4
RefSeq Acc Id: ENSP00000506962   ⟸   ENST00000683327
RefSeq Acc Id: XP_047275882   ⟸   XM_047419926
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054213330   ⟸   XM_054357355
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054213332   ⟸   XM_054357357
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054213333   ⟸   XM_054357358
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054213331   ⟸   XM_054357356
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q400G9-F1-model_v2 AlphaFold Q400G9 1-498 view protein structure

Promoters
RGD ID:6805863
Promoter ID:HG_KWN:56067
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC003SMS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3672,694,231 - 2,694,731 (+)MPROMDB
RGD ID:7209833
Promoter ID:EPDNEW_H10662
Type:multiple initiation site
Name:AMZ1_2
Description:archaelysin family metallopeptidase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10661  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,702,035 - 2,702,095EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:22231 AgrOrtholog
COSMIC AMZ1 COSMIC
Ensembl Genes ENSG00000174945 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000312371 ENTREZGENE
  ENST00000312371.8 UniProtKB/Swiss-Prot
  ENST00000407112 ENTREZGENE
  ENST00000407112.1 UniProtKB/Swiss-Prot
  ENST00000683327 ENTREZGENE
  ENST00000683327.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.390.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000174945 GTEx
HGNC ID HGNC:22231 ENTREZGENE
Human Proteome Map AMZ1 Human Proteome Map
InterPro MetalloPept_cat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_M54_archaemetzincn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:155185 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 155185 ENTREZGENE
OMIM 615168 OMIM
PANTHER ARCHAEMETZINCIN-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARCHAEMETZINCIN-2-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162376413 PharmGKB
PROSITE ZINC_PROTEASE UniProtKB/Swiss-Prot
Superfamily-SCOP Metalloproteases ('zincins'), catalytic domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A4D202 ENTREZGENE, UniProtKB/TrEMBL
  AMZ1_HUMAN UniProtKB/Swiss-Prot
  B3KRS0 ENTREZGENE
  Q400G9 ENTREZGENE
  Q8TF51 ENTREZGENE
UniProt Secondary B3KRS0 UniProtKB/Swiss-Prot
  Q8TF51 UniProtKB/Swiss-Prot