Entity Details

Primary name MAFB_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9Y5Q3
EntryNameMAFB_HUMAN
FullNameTranscription factor MafB
TaxID9606
Evidenceevidence at protein level
Length323
SequenceStatuscomplete
DateCreated2002-07-11
DateModified2021-06-02

Ontological Relatives

GenesMAFB

GO terms

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GOName
GO:0000785 chromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0005634 nucleus
GO:0005667 transcription regulator complex
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007379 segment specification
GO:0007423 sensory organ development
GO:0007585 respiratory gaseous exchange by respiratory system
GO:0008134 transcription factor binding
GO:0021571 rhombomere 5 development
GO:0021572 rhombomere 6 development
GO:0021599 abducens nerve formation
GO:0033077 T cell differentiation in thymus
GO:0035284 brain segmentation
GO:0042472 inner ear morphogenesis
GO:0042802 identical protein binding
GO:0043565 sequence-specific DNA binding
GO:0044877 protein-containing complex binding
GO:0045444 fat cell differentiation
GO:0045637 regulation of myeloid cell differentiation
GO:0045647 negative regulation of erythrocyte differentiation
GO:0045671 negative regulation of osteoclast differentiation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0048538 thymus development

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR004826 Basic leucine zipper domain, Maf-typeDomainDomain
IPR004827 Basic-leucine zipper domainDomainDomain
IPR008917 Transcription factor, Skn-1-like, DNA-binding domain superfamilyFamilyHomologous superfamily
IPR013592 Maf transcription factor, N-terminalDomainDomain
IPR024874 Transcription factor Maf familyFamilyFamily
IPR028571 Transcription factor MafBFamilyFamily

Diseases

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Disease IDSourceNameDescription
166300 OMIMMulticentric carpotarsal osteolysis syndrome (MCTO)A rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bone usually occurs and other bones may also be involved. Chronic renal failure is a frequent component of the syndrome. Mental retardation and minor facial anomalies have been noted in some patients. The disease is caused by variants affecting the gene represented in this entry.
617041 OMIMDuane retraction syndrome 3 with or without deafness (DURS3)A form of Duane retraction syndrome, a congenital eye movement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction or both, narrowing of the palpebral fissure, and retraction of the globe on attempted adduction. Undiagnosed in children, it can lead to amblyopia, a permanent uncorrectable loss of vision. Some DURS3 patients manifest sensorineural hearing loss. The disease is caused by variants affecting the gene represented in this entry.

Interactions

27 interactions

InteractorPartnerSourcesPublicationsLink
MAFB_HUMANZWINT_HUMANBioGRID, IntAct21988832 details
MAFB_HUMANBACH1_HUMANBioGRID, HPIDb, UniProt20102225 23661758 details
MAFB_HUMANATF3_HUMANHPIDb20102225 details
MAFB_HUMANFOS_HUMANBioGRID, HPIDb, UniProt20102225 23661758 details
MAFB_HUMANFOSL2_HUMANHPIDb20102225 details
MAFB_HUMANMAF_HUMANBioGRID, HPIDb, UniProt20102225 23661758 details
MAFB_HUMANMAFB_HUMANBioGRID, HPIDb, HPRD, IntAct, UniProt12196529 12514174 14965474 15107855 16219768 20102225 20211142 23661758 31822558 details
MAFB_HUMANNF2L1_HUMANHPIDb20102225 details
MAFB_HUMANKRA42_HUMANBioGRID, IntAct32296183 details
MAFB_HUMANATF4_HUMANBioGRID, UniProt23661758 details
MAFB_HUMANZDHC2_HUMANBioGRID, IntAct20211142 details
MAFB_HUMANZF64B_HUMANBioGRID, IntAct20211142 details
MAFB_HUMANDDB1_HUMANBioGRID, IntAct20211142 31822558 details
MAFB_HUMANHXD12_HUMANBioGRID11036080 details
MAFB_HUMANFOSL1_HUMANBioGRID23661758 details
MAFB_HUMANIRF3_HUMANBioGRID, InnateDB20581830 details
MAFB_HUMANIRF7_HUMANBioGRID, InnateDB20581830 details
MAFB_HUMANIKKE_HUMANBioGRID, InnateDB20581830 details
MAFB_HUMANNCOA6_HUMANBioGRID26180087 details
MAFB_HUMANKDM6A_HUMANBioGRID26180087 details
MAFB_HUMANRBBP5_HUMANBioGRID26180087 details
MAFB_HUMANKAT2B_HUMANBioGRID26180087 details
MAFB_HUMANPAX6_HUMANBioGRID26180087 details
MAFB_HUMANISL1_HUMANBioGRID26180087 details
MAFB_HUMANUBP5_HUMANBioGRID28933784 details
MAFB_HUMANUBP7_HUMANBioGRID31822558 details
MAFB_HUMANJUN_HUMANHPRD12798298 details