Reviewed, UniProtKB/Swiss-Prot O75444 (MAF_HUMAN)

Names and origin

Protein names

Recommended name:
    Transcription factor Maf
Alternative name(s):
    Proto-oncogene c-maf

Gene names

Name:

MAF

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	403 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Subcellular location	NucleusBy similarity.
Involvement in disease	A chromosomal aberration involving MAF is found in some forms of multiple myeloma (MM). Translocation t(14;16)(q32.3;q23) with an IgH locus. Defects in MAF are the cause of juvenile-onset pulverulent cataract [MIM:610202]. Cataract is a partial or complete ocular opacity that affects the crystalline lens or its capsule, leading to impaired vision or blindness. Defects in MAF are the cause of congenital cerulean cataract 4 (CCA4) [MIM:610202]. CCA4 is a form of autosomal dominant congenital cataract (ADCC). Cerulean cataracts have peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary.
Sequence similarities	Belongs to the bZIP family. Maf subfamily. Contains 1 bZIP domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Chromosomal rearrangement
Disease	Cataract Disease mutation Proto-oncogene
Ligand	DNA-binding
Gene Ontology (GO)
Cellular component	chromatin Ref.1 Traceable author statement. Source: ProtInc nucleus Inferred from electronic annotation. Source: InterPro
Molecular function	RNA polymerase II transcription factor activity Ref.1 Traceable author statement. Source: ProtInc protein dimerization activity Inferred from electronic annotation. Source: InterPro sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro transcription factor activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform Long (identifier: O75444-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform Short (identifier: O75444-2)

The sequence of this isoform differs from the canonical sequence as follows:
     373-403: ITEPTRKLEPSVGYATFWKPQHRVLTSVFTK → M

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 403	403	Transcription factor Maf		PRO_0000076491
Regions
	Domain	316 – 337	22	Leucine-zipper
	DNA binding	288 – 314	27	Basic motif
	Compositional bias	139 – 146	8	Poly-Ala
	Compositional bias	169 – 173	5	Poly-Ala
	Compositional bias	180 – 187	8	Poly-His
	Compositional bias	191 – 194	4	Poly-His
	Compositional bias	211 – 220	10	Poly-Gly
	Compositional bias	225 – 238	14	Poly-Gly
Natural variations
	Alternative sequence	373 – 403	31	ITEPT…SVFTK → M in isoform Short.		VSP_000583
	Natural variant	288	1	R → P in juvenile-onset pulverulent cataract.		VAR_029369
	Natural variant	297	1	K → R in CCA4.		VAR_029370

Sequences

	Sequence		Length	Mass (Da)
	Isoform Long [UniParc]. Last modified November 1, 1998. Version 1. Checksum: 263D2FF2AF8DFB5B	FASTA	403	41,961
	10 20 30 40 50 60 MASELAMSNS DLPTSPLAME YVNDFDLMKF EVKKEPVETD RIISQCGRLI AGGSLSSTPM 70 80 90 100 110 120 STPCSSVPPS PSFSAPSPGS GSEQKAHLED YYWMTGYPQQ LNPEALGFSP EDAVEALISN 130 140 150 160 170 180 SHQLQGGFDG YARGAQQLAA AAGAGAGASL GGSGEEMGPA AAVVSAVIAA AAAQSGAGPH 190 200 210 220 230 240 YHHHHHHAAG HHHHPTAGAP GAAGSAAASA GGAGGAGGGG PASAGGGGGG GGGGGGGGAA 250 260 270 280 290 300 GAGGALHPHH AAGGLHFDDR FSDEQLVTMS VRELNRQLRG VSKEEVIRLK QKRRTLKNRG 310 320 330 340 350 360 YAQSCRFKRV QQRHVLESEK NQLLQQVDHL KQEISRLVRE RDAYKEKYEK LVSSGFRENG 370 380 390 400 SSSDNPSSPE FFITEPTRKL EPSVGYATFW KPQHRVLTSV FTK
	Isoform Short [UniParc]. Checksum: 566C2BC3E4A62762		373	38,492
	10 20 30 40 50 60 MASELAMSNS DLPTSPLAME YVNDFDLMKF EVKKEPVETD RIISQCGRLI AGGSLSSTPM 70 80 90 100 110 120 STPCSSVPPS PSFSAPSPGS GSEQKAHLED YYWMTGYPQQ LNPEALGFSP EDAVEALISN 130 140 150 160 170 180 SHQLQGGFDG YARGAQQLAA AAGAGAGASL GGSGEEMGPA AAVVSAVIAA AAAQSGAGPH 190 200 210 220 230 240 YHHHHHHAAG HHHHPTAGAP GAAGSAAASA GGAGGAGGGG PASAGGGGGG GGGGGGGGAA 250 260 270 280 290 300 GAGGALHPHH AAGGLHFDDR FSDEQLVTMS VRELNRQLRG VSKEEVIRLK QKRRTLKNRG 310 320 330 340 350 360 YAQSCRFKRV QQRHVLESEK NQLLQQVDHL KQEISRLVRE RDAYKEKYEK LVSSGFRENG 370 SSSDNPSSPE FFM

References

[1]	"Frequent dysregulation of the c-maf proto-oncogene at 16q23 by translocation to an Ig locus in multiple myeloma." Chesi M., Bergsagel P.L., Shonukan O.O., Martelli M.L., Brents L.A., Chen T., Schrock E., Ried T., Kuehl W.M. Blood 91:4457-4463(1998) [PubMed: 9616139] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], ALTERNATIVE SPLICING.
[2]	"Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma." Jamieson R.V., Perveen R., Kerr B., Carette M., Yardley J., Heon E., Wirth M.G., van Heyningen V., Donnai D., Munier F., Black G.C. Hum. Mol. Genet. 11:33-42(2002) [PubMed: 11772997] [Abstract] Cited for: VARIANT JUVENILE-ONSET PULVERULENT CATARACT PRO-288.
[3]	"A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant 'cerulean cataract' in an Indian family." Vanita V., Singh D., Robinson P.N., Sperling K., Singh J.R. Am. J. Med. Genet. A 140:558-566(2006) [PubMed: 16470690] [Abstract] Cited for: VARIANT CCA4 ARG-297.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF055377 mRNA. Translation: AAC27038.1. AF055378 Genomic DNA. Translation: AAC27039.1. AF055376 mRNA. Translation: AAC27037.1.
RefSeq	NP_005351.2.
UniGene	Hs.134859
3D structure databases
HSSP	HSSP built from PDB template 1K1V based on UniProtKB O54790.
ModBase	Search...
PTM databases
PhosphoSite	O75444.
Genome annotation databases
Ensembl	ENSG00000178573. Homo sapiens. [Contig view]
GeneID	4094.
Organism-specific databases
H-InvDB	HIX0038539.
HGNC	HGNC:6776. MAF.
HPA	CAB010296.
MIM	177075. gene. 610202. phenotype.
Orphanet	98989. Cataract, cerulean. 91492. Cataract, congenital, non-syndromic. 98984. Cataract, pulverulent.
PharmGKB	PA30534.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	O75444.
HOVERGEN	O75444.
Gene expression databases
ArrayExpress	O75444.
CleanEx	HS_MAF.
GermOnline	ENSG00000178573. Homo sapiens.
Family and domain databases
InterPro	IPR013592. Maf_TF_N. IPR004827. TF_bZIP. IPR004826. TF_Maf. [Graphical view]
Pfam	PF03131. bZIP_Maf. 1 hit. PF08383. Maf_N. 1 hit. [Graphical view]
SMART	SM00338. BRLZ. 1 hit. [Graphical view]
PROSITE	PS50217. BZIP. 1 hit. PS00036. BZIP_BASIC. False negative. [Graphical view]
ProtoNet	Search...
Other Resources
LinkHub	O75444.
NextBio	16054.
SOURCE	Search...

Entry information

Entry name

MAF_HUMAN

Accession

Primary (citable) accession number: O75444
Secondary accession number(s): Q9UP93

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 11, 2002
Last sequence update:	November 1, 1998
Last modified:	November 25, 2008
This is version 61 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)