MAF - MAF bZIP transcription factor Gene
Also Known as CCA4; AYGRP; c-MAF; CTRCT21
Species: Homo sapiens
About MAF
This gene has 3 transcripts (splice variants), 251 orthologues, 6 paralogues and is associated with 69 phenotypes. Ubiquitous expression in kidney (RPKM 1.3), endometrium (RPKM 0.9) and 24 other tissues.
Summary
The protein encoded by this gene is a DNA-binding, leucine zipper-containing transcription factor that acts as a homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a transcriptional activator or repressor. This protein plays a role in the regulation of several cellular processes, including embryonic lens fiber cell development, increased T-cell susceptibility to Apoptosis, and chondrocyte terminal differentiation. Defects in this gene are a cause of juvenile-onset pulverulent cataract as well as congenital cerulean cataract 4 (CCA4). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
MAF Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001031804.3 | NP_001026974.1 | transcription factor Maf isoform b |
| NM_005360.5 | NP_005351.2 | transcription factor Maf isoform a |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
20102225 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
20102225 | GOA |
| enables sequence-specific double-stranded DNA binding |
IDA
IDA: Inferred from direct assay
|
28473536 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in megakaryocyte differentiation |
IMP
IMP: Inferred from mutant phenotype
|
25857263 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of RNA polymerase II transcription regulator complex |
IPI
IPI: Inferred from physical interaction
|
20102225 | GOA |
MAF Protein Structure
Maf_N: Maf N-terminal region (86 - 120)
bZIP_Maf: bZIP Maf transcription factor (261 - 351)
- 0
- 100
- 200
- 300
- 373 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
transcription factor Maf |
|
MAF Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
MAF | O75444 | BACH1 | Homo sapiens | O14867 | 20102225 | |
|
Intra
|
MAF | O75444 | MAF | Homo sapiens | O75444 | 23661758 | |
|
Intra
|
MAF | O75444 | ATF4 | Homo sapiens | P18848 | 20102225 | |
|
Intra
|
MAF | O75444 | MAFB | Homo sapiens | Q9Y5Q3 | 23661758 | |
|
Intra
|
MAF | O75444 | AHR | Homo sapiens | P35869 | 20676095 | |
|
Intra
|
MAF | O75444 | FOSL1 | Homo sapiens | P15407 | 23661758 | |
|
Intra
|
MAF | O75444 | ATF4 | Homo sapiens | P18848 | 23661758 | |
|
Intra
|
MAF | O75444 | MAFB | Homo sapiens | Q9Y5Q3 | 20102225 | |
|
Intra
|
MAF | O75444 | MAF | Homo sapiens | O75444 | 20102225 | |
|
Intra
|
MAF | O75444 | HBZ | Human T-cell leukemia virus 1 | P0C746 | 20102225 |
MAF Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81433 | c-Maf Antibody (YA1178) | IHC-P | Human |
| HY-P81433A | c-Maf Antibody (YA1178)(PBS only) | IHC-P | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Ayme-Gripp Syndrome |
|
|
| Cataract 21, Multiple Types |
|
|
| Developmental And Epileptic Encephalopathy 28 |
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
|
| Cataract 7 |
|
|
| Developmental And Epileptic Encephalopathy 1 |
|
|
| Cataract Microcornea Syndrome |
|
|
| Cataract 30, Multiple Types |
|
|
| West Syndrome |
|
|
| Benign Epilepsy With Centrotemporal Spikes |
|
|
| Fibrosarcoma |
|
|
| Plasma Cell Leukemia |
|
|
| Cataract |
|
|
| Nephrogenic Adenofibroma |
|
|
| Erythroleukemia |
|
|
| Slate Pneumoconiosis |
|
|
| Multicentric Carpotarsal Osteolysis Syndrome |
|
|
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
|
| Monoclonal Gammopathy Of Uncertain Significance |
|
|
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
|
| Non-Syndromic X-Linked Intellectual Disability Arx-Related |
|
|
| Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone With Or Without Frontotemporal Dementia 2 |
|
|
| Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
|
| Blood Protein Disease |
|
|
| Myopia |
|
|
| Smoldering Myeloma |
|
|
| Schindler Disease, Type I |
|
|
| Pfeiffer Syndrome |
|
|
| Myasthenic Syndrome, Congenital, 3a, Slow-Channel |
|
|
| Idiopathic Peripheral Autonomic Neuropathy |
|
|
| Anterior Segment Dysgenesis |
|
|
| Inflammatory Bowel Disease |
|
|
| Ciliary Dyskinesia, Primary, 43 |
|
|
| Arthrogryposis, Distal, Type 2b3 |
|
|
| Corneal Dystrophy, Posterior Polymorphous, 4 |
|
|
| Spinocerebellar Ataxia 44 |
|
|
| Larsen-Like Syndrome B3gat3 Type |
|
|
| Deafness, Autosomal Dominant 4a |
|
|
| Immunodeficiency 58 |
|
|
| Ciliary Dyskinesia, Primary, 4 |
|
|
| Ciliary Dyskinesia, Primary, 8 |
|
|
| Aniridia 1 |
|
|
| Hereditary Spastic Paraplegia 51 |
|
|
| Coloboma Of Macula |
|
|
| Chromophobe Renal Cell Carcinoma |
|
|
| Hypertension, Essential |
|
|
| Parkinson Disease, Late-Onset |
|
|
| Maturity-Onset Diabetes Of The Young |
|
|
| Attention Deficit-Hyperactivity Disorder |
|
|
| Celiac Disease 1 |
|
|
| Hereditary Breast Ovarian Cancer Syndrome |
|
|
| Eye Disease |
|
|
| Nervous System Disease |
|
|
| Fundus Dystrophy |
|
|
| Retinitis Pigmentosa |
|
|
| Congenital Nervous System Abnormality |
|
|
| Cone-Rod Dystrophy 2 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | MAF | VGNC | VGNC:99522 |
| Mus musculus | MAF | MGD | MGI:96909 |
| Bos taurus | MAF | VGNC | VGNC:57051 |
| Rattus norvegicus | MAF | RGD | RGD:3034 |
| Others | MAF | NCBI |