MAF1 (MAF1 homolog, negative regulator of RNA polymerase III) - Rat Genome Database

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Gene: MAF1 (MAF1 homolog, negative regulator of RNA polymerase III) Homo sapiens
Analyze
Symbol: MAF1
Name: MAF1 homolog, negative regulator of RNA polymerase III
RGD ID: 1601952
HGNC Page HGNC
Description: Exhibits RNA polymerase III type 1 promoter sequence-specific DNA binding activity; RNA polymerase III type 2 promoter sequence-specific DNA binding activity; and RNA polymerase III type 3 promoter sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase I and negative regulation of transcription by RNA polymerase III. Localizes to cytoplasm; nucleolus; and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: homolog of yeast MAF1; MAF1 homolog; MAF1 negative regulator of RNA polymerase III; MGC20332; MGC31779; MGC39758; repressor of RNA polymerase III transcription MAF1 homolog
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC391578  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,104,461 - 144,107,611 (+)EnsemblGRCh38hg38GRCh38
GRCh388144,104,461 - 144,107,611 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,159,364 - 145,162,514 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,231,293 - 145,234,503 (+)NCBINCBI36hg18NCBI36
Celera8141,496,826 - 141,500,038 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,435,186 - 140,438,398 (+)NCBIHuRef
CHM1_18145,199,686 - 145,202,898 (+)NCBICHM1_1
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

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:8889548   PMID:10737800   PMID:11230166   PMID:11256614   PMID:11438659   PMID:12477932   PMID:12504022   PMID:15489334   PMID:16169070   PMID:16189514   PMID:17081983   PMID:17205138  
PMID:17207965   PMID:17499043   PMID:17505538   PMID:18377933   PMID:19060904   PMID:20233713   PMID:20543138   PMID:20817737   PMID:21383183   PMID:21428925   PMID:21873635   PMID:21900206  
PMID:22810236   PMID:23673667   PMID:25502566   PMID:25568945   PMID:26030842   PMID:26067234   PMID:26186194   PMID:26910647   PMID:26941251   PMID:27229929   PMID:28079882   PMID:28514442  
PMID:28986522   PMID:30628658   PMID:31645432   PMID:32066962   PMID:32814053  


Genomics

Comparative Map Data
MAF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,104,461 - 144,107,611 (+)EnsemblGRCh38hg38GRCh38
GRCh388144,104,461 - 144,107,611 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,159,364 - 145,162,514 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,231,293 - 145,234,503 (+)NCBINCBI36hg18NCBI36
Celera8141,496,826 - 141,500,038 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,435,186 - 140,438,398 (+)NCBIHuRef
CHM1_18145,199,686 - 145,202,898 (+)NCBICHM1_1
Maf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,235,494 - 76,238,578 (+)NCBIGRCm39mm39
GRCm39 Ensembl1576,235,494 - 76,238,580 (+)Ensembl
GRCm381576,351,294 - 76,354,378 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,351,294 - 76,354,380 (+)EnsemblGRCm38mm10GRCm38
MGSCv371576,181,724 - 76,184,808 (+)NCBIGRCm37mm9NCBIm37
MGSCv361576,178,561 - 76,181,628 (+)NCBImm8
Celera1577,851,355 - 77,854,439 (+)NCBICelera
Cytogenetic Map15D3NCBI
Maf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27108,075,173 - 108,078,252 (+)NCBI
Rnor_6.0 Ensembl7117,417,687 - 117,420,719 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07117,417,643 - 117,420,722 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07117,405,273 - 117,408,352 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,402,298 - 114,405,331 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17114,436,527 - 114,439,560 (+)NCBI
Celera7104,427,544 - 104,430,577 (+)NCBICelera
Cytogenetic Map7q34NCBI
Maf1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554542,765,966 - 2,769,260 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554542,765,966 - 2,769,260 (+)NCBIChiLan1.0ChiLan1.0
MAF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18143,862,698 - 143,865,895 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v08140,870,815 - 140,873,947 (+)NCBIMhudiblu_PPA_v0panPan3
MAF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,598,819 - 37,601,713 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,598,600 - 37,601,591 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,562,494 - 37,565,407 (+)NCBI
ROS_Cfam_1.01338,075,024 - 38,077,937 (+)NCBI
UMICH_Zoey_3.11337,747,082 - 37,749,995 (+)NCBI
UNSW_CanFamBas_1.01337,875,762 - 37,878,675 (+)NCBI
UU_Cfam_GSD_1.01338,351,941 - 38,354,854 (+)NCBI
Maf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303647,129 - 650,193 (-)NCBI
SpeTri2.0NW_0049364708,073,228 - 8,076,338 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MAF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.14597,410 - 600,520 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24750,540 - 753,648 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MAF1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,315,739 - 138,318,963 (+)NCBI
ChlSab1.1 Ensembl8138,316,980 - 138,319,456 (+)Ensembl
Maf1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473512,715,888 - 12,719,058 (-)NCBI

Position Markers
RH79825  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,162,267 - 145,162,498UniSTSGRCh37
Build 368145,234,255 - 145,234,486RGDNCBI36
Celera8141,499,790 - 141,500,021RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,438,150 - 140,438,381UniSTS
RH65611  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,160,874 - 145,161,088UniSTSGRCh37
Build 368145,232,862 - 145,233,076RGDNCBI36
Celera8141,498,397 - 141,498,611RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,436,757 - 140,436,971UniSTS
GeneMap99-GB4 RH Map8563.39UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2222
Count of miRNA genes:801
Interacting mature miRNAs:954
Transcripts:ENST00000322428, ENST00000527058, ENST00000527572, ENST00000532522, ENST00000534585, ENST00000534811
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.


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 25
Medium 2432 2982 1720 619 1942 461 4355 2188 3700 417 1424 1608 171 1204 2788 4
Low 7 9 6 5 9 4 2 9 34 2 11 5 4 1 2 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_032272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC104592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE093055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE515145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF339064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF984144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG179308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG757465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM721318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR533463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN997000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000322428   ⟹   ENSP00000318604
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,104,461 - 144,107,611 (+)Ensembl
RefSeq Acc Id: ENST00000527058   ⟹   ENSP00000436030
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,105,083 - 144,106,881 (+)Ensembl
RefSeq Acc Id: ENST00000527572   ⟹   ENSP00000431907
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,104,978 - 144,105,995 (+)Ensembl
RefSeq Acc Id: ENST00000532522   ⟹   ENSP00000436720
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,104,975 - 144,107,217 (+)Ensembl
RefSeq Acc Id: ENST00000534585   ⟹   ENSP00000433979
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,104,512 - 144,107,611 (+)Ensembl
RefSeq Acc Id: ENST00000534811   ⟹   ENSP00000436639
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,106,601 - 144,107,392 (+)Ensembl
RefSeq Acc Id: NM_032272   ⟹   NP_115648
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,104,461 - 144,107,611 (+)NCBI
GRCh378145,159,305 - 145,162,515 (+)ENTREZGENE
Build 368145,231,293 - 145,234,503 (+)NCBI Archive
HuRef8140,435,186 - 140,438,398 (+)ENTREZGENE
CHM1_18145,199,686 - 145,202,898 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_115648   ⟸   NM_032272
- UniProtKB: Q9H063 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000436720   ⟸   ENST00000532522
RefSeq Acc Id: ENSP00000318604   ⟸   ENST00000322428
RefSeq Acc Id: ENSP00000433979   ⟸   ENST00000534585
RefSeq Acc Id: ENSP00000436639   ⟸   ENST00000534811
RefSeq Acc Id: ENSP00000436030   ⟸   ENST00000527058
RefSeq Acc Id: ENSP00000431907   ⟸   ENST00000527572

Promoters
RGD ID:7214429
Promoter ID:EPDNEW_H12961
Type:multiple initiation site
Name:MAF1_2
Description:MAF1 homolog, negative regulator of RNA polymerase III
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12964  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,103,252 - 144,103,312EPDNEW
RGD ID:7214437
Promoter ID:EPDNEW_H12964
Type:initiation region
Name:MAF1_1
Description:MAF1 homolog, negative regulator of RNA polymerase III
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12961  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,104,492 - 144,104,552EPDNEW
RGD ID:6806877
Promoter ID:HG_KWN:62314
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:ENST00000321205,   ENST00000359551,   ENST00000361077,   NM_030974,   NM_032272,   UC003ZBB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,229,711 - 145,231,792 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3 copy number gain See cases [RCV000050640] Chr8:144002671..144796947 [GRCh38]
Chr8:145076839..146022332 [GRCh37]
Chr8:145148827..145993136 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002671-145054634)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|See cases [RCV000053702] Chr8:144002671..145054634 [GRCh38]
Chr8:145076839..146280020 [GRCh37]
Chr8:145148827..146250824 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:143684819-144287978)x1 copy number loss See cases [RCV000054310] Chr8:143684819..144287978 [GRCh38]
Chr8:144940777..145511679 [GRCh37]
Chr8:144838977..145482487 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002471-145054775)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|See cases [RCV000054311] Chr8:144002471..145054775 [GRCh38]
Chr8:145076639..146280161 [GRCh37]
Chr8:145148627..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1 copy number loss See cases [RCV000140913] Chr8:141738068..144140607 [GRCh38]
Chr8:142764538..145195510 [GRCh37]
Chr8:142823655..145267498 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144725942-145508436)x3 copy number gain See cases [RCV000447256] Chr8:144725942..145508436 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
NM_032272.5(MAF1):c.60T>C (p.Thr20=) single nucleotide variant not specified [RCV000455364] Chr8:144105743 [GRCh38]
Chr8:145160646 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3 copy number gain See cases [RCV000510396] Chr8:144779442..146113113 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145101381-145161823)x3 copy number gain not provided [RCV000748007] Chr8:145101381..145161823 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144879444-145199846) copy number loss Verheij syndrome [RCV000767560] Chr8:144879444..145199846 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV000823255] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_144990325)_(145700664_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV000808636] Chr8:144990325..145700664 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic
NC_000008.10:g.(?_145047561)_(145701149_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV001301200] Chr8:145047561..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3 copy number gain not provided [RCV001270667] Chr8:145033244..146297937 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV001327821] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24966 AgrOrtholog
COSMIC MAF1 COSMIC
Ensembl Genes ENSG00000179632 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000318604 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000431907 UniProtKB/TrEMBL
  ENSP00000433979 UniProtKB/TrEMBL
  ENSP00000436030 UniProtKB/TrEMBL
  ENSP00000436639 UniProtKB/TrEMBL
  ENSP00000436720 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000322428 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000527058 UniProtKB/TrEMBL
  ENST00000527572 UniProtKB/TrEMBL
  ENST00000532522 UniProtKB/Swiss-Prot
  ENST00000534585 UniProtKB/TrEMBL
  ENST00000534811 UniProtKB/TrEMBL
Gene3D-CATH 3.40.1000.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000179632 GTEx
HGNC ID HGNC:24966 ENTREZGENE
Human Proteome Map MAF1 Human Proteome Map
InterPro Maf1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Maf1_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84232 UniProtKB/Swiss-Prot
NCBI Gene 84232 ENTREZGENE
OMIM 610210 OMIM
PANTHER PTHR22504 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Maf1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671489 PharmGKB
PIRSF RNA_polIII_Trep_MAF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E9PJ05_HUMAN UniProtKB/TrEMBL
  E9PR76_HUMAN UniProtKB/TrEMBL
  E9PSH4_HUMAN UniProtKB/TrEMBL
  H0YEV4_HUMAN UniProtKB/TrEMBL
  MAF1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary D3DWL4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-07-07 MAF1  MAF1 homolog, negative regulator of RNA polymerase III    MAF1 negative regulator of RNA polymerase III  Symbol and/or name change 5135510 APPROVED
2015-06-30 MAF1  MAF1 negative regulator of RNA polymerase III    MAF1 homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED