MAFA (MAF bZIP transcription factor A) - Rat Genome Database

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Gene: MAFA (MAF bZIP transcription factor A) Chlorocebus sabaeus
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Symbol: MAFA
Name: MAF bZIP transcription factor A
RGD ID: 18616248
Description: ENCODES a protein that exhibits DNA binding (inferred); DNA-binding transcription activator activity, RNA polymerase II-specific (inferred); DNA-binding transcription factor activity (inferred); INVOLVED IN insulin secretion (inferred); positive regulation of DNA-templated transcription (inferred); positive regulation of transcription by RNA polymerase II (inferred); ASSOCIATED WITH Brown-Vialetto-Van Laere syndrome 2 (ortholog); Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus (ortholog); diabetes mellitus (ortholog); FOUND IN nucleus (inferred)
Type: protein-coding
RefSeq Status: MODEL
Previously known as: transcription factor MafA
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: ChlSab1.1 - Green Monkey 1.1 Assembly
Position:
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18137,647,459 - 137,650,169 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl8137,648,746 - 137,649,804 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660392,253,402 - 2,256,090 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
JBrowse: View Region in Genome Browser (JBrowse)
Model



  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
MAFAGreen Monkeydiabetes mellitus treatmentISORGD:15626279068941 RGDPMID:23801580|REF_RGD_ID:13506744
MAFAGreen MonkeyExperimental Diabetes Mellitus treatmentISORGD:15571639068941 RGDPMID:28487936|REF_RGD_ID:13506743
MAFAGreen Monkeytype 2 diabetes mellitus  ISORGD:16044389068941protein:decreased expression:islet:RGDPMID:24013263|REF_RGD_ID:13506742
MAFAGreen Monkeytype 2 diabetes mellitus  ISORGD:15571639068941protein:decreased expression:beta cells of pancreaRGDPMID:20424231|REF_RGD_ID:13506745
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
MAFAGreen MonkeyBrown-Vialetto-Van Laere syndrome 2  ISORGD:16044388554872ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2ClinVarPMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526
MAFAGreen MonkeyCombined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus  ISORGD:16044388554872ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes more ...ClinVarPMID:25741868
MAFAGreen Monkeyepidermolysis bullosa simplex with muscular dystrophy  ISORGD:16044388554872ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophyClinVarPMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526
MAFAGreen Monkeyholoprosencephaly  ISORGD:16044388554872ClinVar Annotator: match by term: Holoprosencephaly sequenceClinVarPMID:28492532
MAFAGreen MonkeyIslet Cell Adenomatosis  ISORGD:16044388554872ClinVar Annotator: match by term: Islet cell adenomatosisClinVarPMID:25741868|PMID:29339498|PMID:35406570
MAFAGreen MonkeyRecombinant Chromosome 8 Syndrome  ISORGD:16044388554872ClinVar Annotator: match by term: Recombinant 8 syndromeClinVarPMID:31690835
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
MAFAGreen Monkeymaturity-onset diabetes of the young  ISORGD:15571639068941OMIM:606391MouseDO 
MAFAGreen Monkeytype 2 diabetes mellitus  ISORGD:15571639068941OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036MouseDO 
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
MAFAGreen MonkeyIslet Cell Adenomatosis  ISORGD:16044387240710 OMIM 


Biological Process
1 to 9 of 9 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
MAFAGreen Monkeyinsulin secretion acts_upstream_ofIEAUniProtKB:Q8NHW3|ensembl:ENSP00000328364150520179 EnsemblGO_REF:0000107
MAFAGreen Monkeyinsulin secretion involved_inIEAPANTHER:PTN008301836150520179 TreeGrafterGO_REF:0000118
MAFAGreen Monkeypositive regulation of DNA-templated transcription acts_upstream_of_or_withinIEAUniProtKB:Q8CF90|ensembl:ENSMUSP00000054226150520179 EnsemblGO_REF:0000107
MAFAGreen Monkeypositive regulation of transcription by RNA polymerase II involved_inIEAUniProtKB:Q8NHW3|ensembl:ENSP00000328364150520179 EnsemblGO_REF:0000107
MAFAGreen Monkeypositive regulation of transcription by RNA polymerase II acts_upstream_of_or_withinIEAUniProtKB:Q8CF90|ensembl:ENSMUSP00000054226150520179 EnsemblGO_REF:0000107
MAFAGreen Monkeyregulation of DNA-templated transcription involved_inIEAInterPro:IPR004826|InterPro:IPR004827|InterPro:IPR008917|InterPro:IPR024874|InterPro:IPR046347150520179 InterProGO_REF:0000002
MAFAGreen Monkeyregulation of transcription by RNA polymerase II involved_inIEAPANTHER:PTN008301836150520179 TreeGrafterGO_REF:0000118
MAFAGreen Monkeyresponse to glucose involved_inIEAUniProtKB:Q8NHW3|ensembl:ENSP00000328364150520179 EnsemblGO_REF:0000107
MAFAGreen Monkeyresponse to glucose involved_inIEAPANTHER:PTN008301836150520179 TreeGrafterGO_REF:0000118
1 to 9 of 9 rows

Cellular Component

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
MAFAGreen Monkeynucleus located_inIEAUniProtKB:Q8CF90|UniProtKB:Q8NHW3|ensembl:ENSMUSP00000054226|ensembl:ENSP00000328364150520179 EnsemblGO_REF:0000107
MAFAGreen Monkeynucleus located_inIEAPANTHER:PTN008301836150520179 TreeGrafterGO_REF:0000118
MAFAGreen Monkeynucleus located_inIEAUniProtKB-KW:KW-0539150520179 UniProtGO_REF:0000043

Molecular Function
1 to 11 of 11 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
MAFAGreen MonkeyDNA binding enablesIEAUniProtKB-KW:KW-0238150520179 UniProtGO_REF:0000043
MAFAGreen MonkeyDNA binding enablesIEAInterPro:IPR004826|InterPro:IPR008917150520179 InterProGO_REF:0000002
MAFAGreen MonkeyDNA binding enablesIEAUniProtKB:Q8CF90|UniProtKB:Q8NHW3|ensembl:ENSMUSP00000054226|ensembl:ENSP00000328364150520179 EnsemblGO_REF:0000107
MAFAGreen MonkeyDNA-binding transcription activator activity, RNA polymerase II-specific enablesIEAUniProtKB:Q8CF90|ensembl:ENSMUSP00000054226150520179 EnsemblGO_REF:0000107
MAFAGreen MonkeyDNA-binding transcription factor activity enablesIEAInterPro:IPR004827|InterPro:IPR024874|InterPro:IPR046347150520179 InterProGO_REF:0000002
MAFAGreen MonkeyDNA-binding transcription factor activity enablesIEAUniProtKB:Q8NHW3|ensembl:ENSP00000328364150520179 EnsemblGO_REF:0000107
MAFAGreen MonkeyDNA-binding transcription factor activity, RNA polymerase II-specific enablesIEAPANTHER:PTN008301836150520179 TreeGrafterGO_REF:0000118
MAFAGreen Monkeyprotein binding  ISORGD:13059029068941 RGDPMID:18042454|REF_RGD_ID:9590276
MAFAGreen MonkeyRNA polymerase II cis-regulatory region sequence-specific DNA binding enablesIEAUniProtKB:Q8CF90|ensembl:ENSMUSP00000054226150520179 EnsemblGO_REF:0000107
MAFAGreen MonkeyRNA polymerase II cis-regulatory region sequence-specific DNA binding enablesIEAPANTHER:PTN008301836150520179 TreeGrafterGO_REF:0000118
MAFAGreen Monkeysequence-specific double-stranded DNA binding enablesIEAUniProtKB:Q8NHW3|ensembl:ENSP00000328364150520179 EnsemblGO_REF:0000107
1 to 11 of 11 rows

PMID:30032202  



MAFA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18137,647,459 - 137,650,169 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl8137,648,746 - 137,649,804 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660392,253,402 - 2,256,090 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
MAFA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388143,428,064 - 143,430,732 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8143,419,182 - 143,430,732 (-)EnsemblGRCh38hg38GRCh38
GRCh378144,510,234 - 144,512,902 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,582,658 - 144,583,719 (-)NCBINCBI36Build 36hg18NCBI36
Celera8140,823,405 - 140,824,466 (-)NCBICelera
Cytogenetic Map8q24.3NCBI
HuRef8139,762,838 - 139,764,567 (-)NCBIHuRef
CHM1_18144,550,697 - 144,553,066 (-)NCBICHM1_1
T2T-CHM13v2.08144,577,736 - 144,580,401 (-)NCBIT2T-CHM13v2.0
Mafa
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391575,617,350 - 75,620,170 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1575,617,339 - 75,620,077 (-)EnsemblGRCm39 Ensembl
GRCm381575,745,501 - 75,748,321 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1575,745,490 - 75,748,228 (-)EnsemblGRCm38mm10GRCm38
MGSCv371575,577,273 - 75,578,352 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361575,574,098 - 75,575,177 (-)NCBIMGSCv36mm8
Celera1577,247,539 - 77,247,977 (-)NCBICelera
Cytogenetic Map15D3NCBI
cM Map1534.82NCBI
Mafa
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87109,313,021 - 109,315,813 (-)NCBIGRCr8
mRatBN7.27107,432,292 - 107,435,084 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7107,433,605 - 107,434,690 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7109,171,427 - 109,174,218 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07111,395,100 - 111,397,891 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07111,341,011 - 111,343,802 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07116,779,368 - 116,781,815 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7116,780,681 - 116,781,766 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07116,670,579 - 116,673,032 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47113,707,043 - 113,708,128 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera7103,795,440 - 103,796,236 (-)NCBICelera
Cytogenetic Map7q34NCBI
Mafa
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554542,135,484 - 2,136,560 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554542,134,340 - 2,136,962 (-)NCBIChiLan1.0ChiLan1.0
MAFA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27160,908,765 - 160,911,574 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan18136,425,885 - 136,428,694 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v08140,178,322 - 140,181,152 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
MAFA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,122,653 - 37,123,895 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,122,731 - 37,123,771 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,080,084 - 37,081,140 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01337,595,211 - 37,596,267 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1337,595,211 - 37,596,251 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11337,269,620 - 37,270,676 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01337,386,782 - 37,387,836 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01337,867,731 - 37,868,787 (-)NCBIUU_Cfam_GSD_1.0
Mafa
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053031,258,281 - 1,260,665 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364708,684,393 - 8,685,475 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364708,684,392 - 8,686,758 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MAFA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl41,090,874 - 1,093,600 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.141,090,018 - 1,093,600 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.241,173,340 - 1,175,218 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Mafa
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473513,327,889 - 13,328,962 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473513,327,857 - 13,330,079 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

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Variants in MAFA
18 total Variants



ectoderm
endocrine system
hemolymphoid system
mesenchyme
mesoderm
nervous system
reproductive system
71 31 17 28 28 60 20


RefSeq Transcripts XM_008001764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide JBLKOC010000008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENSCSAT00000018724   ⟹   ENSCSAP00000018160
Type: CODING
Position:
Green Monkey AssemblyChrPosition (strand)Source
ChlSab1.1 Ensembl8137,648,746 - 137,649,804 (-)Ensembl
RefSeq Acc Id: XM_008001764   ⟹   XP_007999955
Type: CODING
Position:
Green Monkey AssemblyChrPosition (strand)Source
ChlSab1.18137,647,459 - 137,650,169 (-)NCBI
Vero_WHO_p1.0NW_0236660392,253,402 - 2,256,090 (+)NCBI
Sequence:
Protein RefSeqs XP_007999955 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSCSAP00000018160
  ENSCSAP00000018160.1
RefSeq Acc Id: XP_007999955   ⟸   XM_008001764
- UniProtKB: A0A0D9SBC1 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSCSAP00000018160   ⟸   ENSCSAT00000018724



1 to 20 of 20 rows
Database
Acc Id
Source(s)
Ensembl Genes ENSCSAG00000018634 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSCSAT00000018724.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.5.170 UniProtKB/TrEMBL
InterPro bZIP UniProtKB/TrEMBL
  bZIP_Maf UniProtKB/TrEMBL
  bZIP_sf UniProtKB/TrEMBL
  Maf_TF_N UniProtKB/TrEMBL
  TF_DNA-bd_sf UniProtKB/TrEMBL
  Transcription_factor_Maf_fam UniProtKB/TrEMBL
KEGG Report csab:103237565 UniProtKB/TrEMBL
NCBI Gene MAFA ENTREZGENE
PANTHER PTHR10129 UniProtKB/TrEMBL
  PTHR10129:SF30 UniProtKB/TrEMBL
Pfam bZIP_Maf UniProtKB/TrEMBL
  Maf_N UniProtKB/TrEMBL
PROSITE BZIP UniProtKB/TrEMBL
SMART BRLZ UniProtKB/TrEMBL
Superfamily-SCOP SSF47454 UniProtKB/TrEMBL
  SSF57959 UniProtKB/TrEMBL
UniProt A0A0D9SBC1 ENTREZGENE, UniProtKB/TrEMBL
1 to 20 of 20 rows