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Homo sapiens v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog (MAF), transcript variant 1, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu18428 Homo sapiens v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog (MAF), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu18428C Homo sapiens v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog (MAF), transcript variant 1, mRNA. Customized vector On-demand $269.00 7-9

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Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_005360.4, 197313768
Length 1212 bp
Structure linear
Update Date 03-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog (MAF), transcript variant 1, mRNA.
Product transcription factor Maf isoform a
Comment

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].


Transcript Variant: This variant (1) is spliced and encodes the longer isoform (a).

RefSeq NP_005351.2
CDS 824..2035
Misc Feature(1)662..664
Misc Feature(2)1079..1183
Misc Feature(3)1079..1183
Misc Feature(4)1199..1942
Misc Feature(5)1604..1879
Misc Feature(6)1685..1762
Misc Feature(7)1769..1834
Exon (1)1..1941
Gene:MAF
Gene Synonym:c-MAF; CCA4
Exon (2)1942..2647
Gene:MAF
Gene Synonym:c-MAF; CCA4
Translation MASELAMSNSDLPTSPLAMEYVNDFDLMKFEVKKEPVETDRIISQCGRLIAGGSLSSTPM STPCSSVPPSPSFSAPSPGSGSEQKAHLEDYYWMTGYPQQLNPEALGFSPEDAVEALISN SHQLQGGFDGYARGAQQLAAAAGAGAGASLGGSGEEMGPAAAVVSAVIAAAAAQSGAGPH YHHHHHHAAGHHHHPTAGAPGAAGSAAASAGGAGGAGGGGPASAGGGGGGGGGGGGGGAA GAGGALHPHHAAGGLHFDDRFSDEQLVTMSVRELNRQLRGVSKEEVIRLKQKRRTLKNRG YAQSCRFKRVQQRHVLESEKNQLLQQVDHLKQEISRLVRERDAYKEKYEKLVSSGFRENG SSSDNPSSPEFFITEPTRKLEPSVGYATFWKPQHRVLTSVFTK
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Position Chain Variation Link
complement(22)-dbSNP:
complement(22)-t, cdbSNP:145695201
44+g, tdbSNP:2288066
complement(65)-g, adbSNP:143607018
complement(67..68)-, gdbSNP:201495658
complement(149)-g, adbSNP:188356862
complement(191)-t, cdbSNP:183508124
complement(298)-g, adbSNP:192477942
complement(343..344)-, tdbSNP:199989028
complement(390)-g, cdbSNP:140174065
complement(472)-g, adbSNP:2348179
complement(515)-g, adbSNP:184896051
complement(542)-t, cdbSNP:146161866
672+c, tdbSNP:3743596
736+c, tdbSNP:4081752
complement(792..794)-, cgcdbSNP:397692970
complement(804..806)-, cgcdbSNP:3072011
complement(815..817)-, gccdbSNP:5818251
complement(815)-t, cdbSNP:371355137
complement(844)-t, cdbSNP:201215541
complement(877)-g, adbSNP:375012222
902+a, cdbSNP:866051
complement(932)-t, cdbSNP:145798231
complement(946)-g, cdbSNP:141946872
complement(986)-g, adbSNP:373316975
complement(1036)-t, gdbSNP:377182117
complement(1041)-c, adbSNP:373001569
complement(1063)-g, cdbSNP:186864493
complement(1072)-t, cdbSNP:138056779
complement(1084)-g, adbSNP:202016553
complement(1108)-t, gdbSNP:369752568
complement(1131)-t, gdbSNP:200484908
complement(1143)-t, cdbSNP:11549798
complement(1165)-g, cdbSNP:372169635
complement(1171)-c, adbSNP:369884117
complement(1578)-g, adbSNP:374654507
complement(1684)-g, adbSNP:139380519
1686+c, gdbSNP:121917735
complement(1705)-t, cdbSNP:140303158
1713+a, gdbSNP:121917736
complement(1747)-g, cdbSNP:151185935
complement(1843)-t, cdbSNP:200671196
complement(1851)-g, adbSNP:201126542
complement(1874)-g, adbSNP:373128580
1882+a, cdbSNP:1046957
complement(1906)-t, cdbSNP:182176065
complement(1918)-g, adbSNP:370846506
complement(1973)-dbSNP:
complement(1973)-g, cdbSNP:142230647
complement(1982)-t, cdbSNP:377735141
complement(2002)-t, cdbSNP:149118803
complement(2004)-t, adbSNP:374681006
complement(2007)-t, cdbSNP:370393708
complement(2047)-g, cdbSNP:202097169
complement(2054)-t, cdbSNP:200061958
complement(2067)-, adbSNP:148849596
complement(2081)-t, adbSNP:375954068
complement(2109)-g, cdbSNP:182082658
complement(2114)-g, cdbSNP:141266301
complement(2116)-g, cdbSNP:113690274
complement(2192)-t, gdbSNP:116860161
2211+a, gdbSNP:2287974
2220+c, gdbSNP:30412
complement(2254)-g, cdbSNP:78847445
complement(2351..2352)-, cdbSNP:36012656
complement(2389)-t, gdbSNP:144466827
complement(2401)-g, adbSNP:75556494
2435+a, gdbSNP:30411
complement(2492)-g, adbSNP:148587414
complement(2524)-t, cdbSNP:144766735
complement(2536)-g, adbSNP:375924127
complement(2561)-t, cdbSNP:372722033
complement(2603)-t, cdbSNP:189561489
Gene SymbolMAF
Gene Synonymc-MAF; CCA4
Chromosome16
Locus Map16q22-q23
Title Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study .
Author Beaty TH, Taub MA, Scott AF, Murray JC, Marazita ML, Schwender H, Parker MM, Hetmanski JB, Balakrishnan P, Mansilla MA, Mangold E, Ludwig KU, Noethen MM, Rubini M, Elcioglu N and Ruczinski I.
Journal Hum. Genet. 132 (7), 771-781 (2013)
Title Genome-wide association analyses identify 18 new loci associated with serum urate concentrations .
Author Kottgen A, Albrecht E, Teumer A, Vitart V, Krumsiek J, Hundertmark C, Pistis G, Ruggiero D, O'Seaghdha CM, Haller T, Yang Q, Tanaka T, Johnson AD, Kutalik Z, Smith AV, Shi J, Struchalin M, Middelberg RP, Brown MJ, Gaffo AL, Pirastu N, Li G, Hayward C, Zemunik T, Huffman J, Yengo L, Zhao JH, Demirkan A, Feitosa MF, Liu X, Malerba G, Lopez LM, van der Harst P, Li X, Kleber ME, Hicks AA, Nolte IM, Johansson A, Murgia F, Wild SH, Bakker SJ, Peden JF, Dehghan A, Steri M, Tenesa A, Lagou V, Salo P, Mangino M, Rose LM, Lehtimaki T, Woodward OM, Okada Y, Tin A, Muller C, Oldmeadow C, Putku M, Czamara D, Kraft P, Frogheri L, Thun GA, Grotevendt A, Gislason GK, Harris TB, Launer LJ, McArdle P, Shuldiner AR, Boerwinkle E, Coresh J, Schmidt H, Schallert M, Martin NG, Montgomery GW, Kubo M, Nakamura Y, Tanaka T, Munroe PB, Samani NJ, Jacobs DR Jr, Liu K, D'Adamo P, Ulivi S, Rotter JI, Psaty BM, Vollenweider P, Waeber G, Campbell S, Devuyst O, Navarro P, Kolcic I, Hastie N, Balkau B, Froguel P, Esko T, Salumets A, Khaw KT, Langenberg C, Wareham NJ, Isaacs A, Kraja A, Zhang Q, Wild PS, Scott RJ, Holliday EG, Org E, Viigimaa M, Bandinelli S, Metter JE, Lupo A, Trabetti E, Sorice R, Doring A, Lattka E, Strauch K, Theis F, Waldenberger M, Wichmann HE, Davies G, Gow AJ, Bruinenberg M, Stolk RP, Kooner JS, Zhang W, Winkelmann BR, Boehm BO, Lucae S, Penninx BW, Smit JH, Curhan G, Mudgal P, Plenge RM, Portas L, Persico I, Kirin M, Wilson JF, Mateo Leach I, van Gilst WH, Goel A, Ongen H, Hofman A, Rivadeneira F, Uitterlinden AG, Imboden M, von Eckardstein A, Cucca F, Nagaraja R, Piras MG, Nauck M, Schurmann C, Budde K, Ernst F, Farrington SM, Theodoratou E, Prokopenko I, Stumvoll M, Jula A, Perola M, Salomaa V, Shin SY, Spector TD, Sala C, Ridker PM, Kahonen M, Viikari J, Hengstenberg C, Nelson CP, Meschia JF, Nalls MA, Sharma P, Singleton AB, Kamatani N, Zeller T, Burnier M, Attia J, Laan M, Klopp N, Hillege HL, Kloiber S, Choi H, Pirastu M, Tore S, Probst-Hensch NM, Volzke H, Gudnason V, Parsa A, Schmidt R, Whitfield JB, Fornage M, Gasparini P, Siscovick DS, Polasek O, Campbell H, Rudan I, Bouatia-Naji N, Metspalu A, Loos RJ, van Duijn CM, Borecki IB, Ferrucci L, Gambaro G, Deary IJ, Wolffenbuttel BH, Chambers JC, Marz W, Pramstaller PP, Snieder H, Gyllensten U, Wright AF, Navis G, Watkins H, Witteman JC, Sanna S, Schipf S, Dunlop MG, Tonjes A, Ripatti S, Soranzo N, Toniolo D, Chasman DI, Raitakari O, Kao WH, Ciullo M, Fox CS, Caulfield M, Bochud M and Gieger C.
Journal Nat. Genet. 45 (2), 145-154 (2013)
Title Functional relevance of genes implicated by obesity genome-wide association study signals for human adipocyte biology .
Author Bernhard F, Landgraf K, Kloting N, Berthold A, Buttner P, Friebe D, Kiess W, Kovacs P, Bluher M and Korner A.
Journal Diabetologia 56 (2), 311-322 (2013)
Title A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function .
Author Porcu E, Medici M, Pistis G, Volpato CB, Wilson SG, Cappola AR, Bos SD, Deelen J, den Heijer M, Freathy RM, Lahti J, Liu C, Lopez LM, Nolte IM, O'Connell JR, Tanaka T, Trompet S, Arnold A, Bandinelli S, Beekman M, Bohringer S, Brown SJ, Buckley BM, Camaschella C, de Craen AJ, Davies G, de Visser MC, Ford I, Forsen T, Frayling TM, Fugazzola L, Gogele M, Hattersley AT, Hermus AR, Hofman A, Houwing-Duistermaat JJ, Jensen RA, Kajantie E, Kloppenburg M, Lim EM, Masciullo C, Mariotti S, Minelli C, Mitchell BD, Nagaraja R, Netea-Maier RT, Palotie A, Persani L, Piras MG, Psaty BM, Raikkonen K, Richards JB, Rivadeneira F, Sala C, Sabra MM, Sattar N, Shields BM, Soranzo N, Starr JM, Stott DJ, Sweep FC, Usala G, van der Klauw MM, van Heemst D, van Mullem A, Vermeulen SH, Visser WE, Walsh JP, Westendorp RG, Widen E, Zhai G, Cucca F, Deary IJ, Eriksson JG, Ferrucci L, Fox CS, Jukema JW, Kiemeney LA, Pramstaller PP, Schlessinger D, Shuldiner AR, Slagboom EP, Uitterlinden AG, Vaidya B, Visser TJ, Wolffenbuttel BH, Meulenbelt I, Rotter JI, Spector TD, Hicks AA, Toniolo D, Sanna S, Peeters RP and Naitza S.
Journal PLoS Genet. 9 (2), E1003266 (2013)
Title Host factor transcriptional regulation contributes to preferential expression of HIV type 1 in IL-4-producing CD4 T cells .
Author Zhang M, Clausell A, Robinson T, Yin J, Chen E, Johnson L, Weiss G, Sabbaj S, Lowe RM, Wagner FH, Goepfert PA, Kutsch O and Cron RQ.
Journal J. Immunol. 189 (6), 2746-2757 (2012)
Title TH2 cytokine-associated transcription factors in atopic and nonatopic asthma: evidence for differential signal transducer and activator of transcription 6 expression .
Author Christodoulopoulos P, Cameron L, Nakamura Y, Lemiere C, Muro S, Dugas M, Boulet LP, Laviolette M, Olivenstein R and Hamid Q.
Journal J. Allergy Clin. Immunol. 107 (4), 586-591 (2001)
Title Frequent dysregulation of the c-maf proto-oncogene at 16q23 by translocation to an Ig locus in multiple myeloma .
Author Chesi M, Bergsagel PL, Shonukan OO, Martelli ML, Brents LA, Chen T, Schrock E, Ried T and Kuehl WM.
Journal Blood 91 (12), 4457-4463 (1998)
Title c-Maf interacts with c-Myb to regulate transcription of an early myeloid gene during differentiation .
Author Hedge SP, Kumar A, Kurschner C and Shapiro LH.
Journal Mol. Cell. Biol. 18 (5), 2729-2737 (1998)
Title USF2/FIP associates with the b-Zip transcription factor, c-Maf, via its bHLH domain and inhibits c-Maf DNA binding activity .
Author Kurschner C and Morgan JI.
Journal Biochem. Biophys. Res. Commun. 231 (2), 333-339 (1997)
Title Maf and Nrl can bind to AP-1 sites and form heterodimers with Fos and Jun .
Author Kerppola TK and Curran T.
Journal Oncogene 9 (3), 675-684 (1994)

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