Reviewed, UniProtKB/Swiss-Prot Q5U5Q3 (MEX3C_HUMAN)

Names and origin

Protein names

Recommended name:
    RNA-binding protein MEX3C
Alternative name(s):
    RING finger and KH domain-containing protein 2
    RING finger protein 194

Gene names

Name:	MEX3C
Synonyms:	RKHD2, RNF194
ORF Names:	BM-013

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

General annotation (Comments)

Function	RNA-binding protein. May be involved in post-transcriptional regulatory mechanisms.
Subcellular location	Cytoplasm. Nucleus. Note: Predominantly expressed in the cytoplasm and shuttles between the cytoplasm and the nucleus through the CRM1 export pathway. Ref.1
Tissue specificity	Highest levels found in fetal brain and testis. Also expressed in thymus, salivary gland and uterus. Week expression in the intestine. Ref.1
Domain	Binds RNA through its KH domains.
Post-translational modification	Phosphorylated. Ref.1 Ref.6
Involvement in disease	Genetic variations in MEX3C may be associated with susceptibility to essential hypertension type 8 (HYT8) [MIM:611014]. Essential hypertension is a common risk factor for cardiovascular diseases, end stage renal disease, stroke, and peripheral vascular diseases. The physiological determinants of blood pressure are the product of cardiac output and systemic vascular resistances, and the regulation of these factors is influenced by both genetic and environmental factors. Ref.5
Sequence similarities	Contains 2 KH domains. Contains 1 RING-type zinc finger.
Sequence caution	The sequence AAF64269.1 differs from that shown. Reason: Erroneous termination at position 514. Translated as Glu. The sequence AAF64269.1 differs from that shown. Reason: Frameshift at positions 520 and 525.

Ontologies

Keywords
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Polymorphism
Domain	Repeat Zinc-finger
Ligand	Metal-binding RNA-binding Zinc
PTM	Phosphoprotein
Gene Ontology (GO)
Cellular component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	RNA binding Inferred from electronic annotation. Source: UniProtKB-KW protein binding Inferred from electronic annotation. Source: InterPro zinc ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 659	659	RNA-binding protein MEX3C		PRO_0000278782
Regions
	Domain	232 – 293	62	KH 1
	Domain	326 – 387	62	KH 2
	Zinc finger	608 – 648	41	RING-type
Amino acid modifications
	Modified residue	545	1	Phosphoserine Ref.6
Natural variations
	Natural variant	412	1	T → P: dbSNP rs12970605.		VAR_030832
Experimental info
	Mutagenesis	343	1	G → D: Prevents RNA binding. Ref.1
	Sequence conflict	509	1	I → M in AAF64269. Ref.4
	Sequence conflict	519	1	L → F in AAF64269. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Q5U5Q3-1 [UniParc]. Last modified March 20, 2007. Version 3. Checksum: BAFDB7AD4B331471	FASTA	659	69,366
	10 20 30 40 50 60 MPSGSSAALA LAAAPAPLPQ PPPPPPPPPP PLPPPSGGPE LEGDGLLLRE RLAALGLDDP 70 80 90 100 110 120 SPAEPGAPAL RAPAAAAQGQ ARRAAELSPE ERAPPGRPGA PEAAELELEE DEEEGEEAEL 130 140 150 160 170 180 DGDLLEEEEL EEAEEEDRSS LLLLSPPAAT ASQTQQIPGG SLGSVLLPAA RFDAREAAAA 190 200 210 220 230 240 AAAAGVLYGG DDAQGMMAAM LSHAYGPGGC GAAAAALNGE QAALLRRKSV NTTECVPVPS 250 260 270 280 290 300 SEHVAEIVGR QGCKIKALRA KTNTYIKTPV RGEEPIFVVT GRKEDVAMAK REILSAAEHF 310 320 330 340 350 360 SMIRASRNKN GPALGGLSCS PNLPGQTTVQ VRVPYRVVGL VVGPKGATIK RIQQQTHTYI 370 380 390 400 410 420 VTPSRDKEPV FEVTGMPENV DRAREEIEMH IAMRTGNYIE LNEENDFHYN GTDVSFEGGT 430 440 450 460 470 480 LGSAWLSSNP VPPSRARMIS NYRNDSSSSL GSGSTDSYFG SNRLADFSPT SPFSTGNFWF 490 500 510 520 530 540 GDTLPSVGSE DLAVDSPAFD SLPTSAQTIW TPFEPVNPLS GFGSDPSGNM KTQRRGSQPS 550 560 570 580 590 600 TPRLSPTFPE SIEHPLARRV RSDPPSTGNH VGLPIYIPAF SNGTNSYSSS NGGSTSSSPP 610 620 630 640 650 ESRRKHDCVI CFENEVIAAL VPCGHNLFCM ECANKICEKR TPSCPVCQTA VTQAIQIHS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification and characterization of human Mex-3 proteins, a novel family of evolutionarily conserved RNA-binding proteins differentially localized to processing bodies." Buchet-Poyau K., Courchet J., Le Hir H., Seraphin B., Scoazec J.-Y., Duret L., Domon-Dell C., Freund J.-N., Billaud M. Nucleic Acids Res. 35:1289-1300(2007) [PubMed: 17267406] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, SUBCELLULAR LOCATION, MUTAGENESIS OF GLY-343, PHOSPHORYLATION.
[2]	"DNA sequence and analysis of human chromosome 18." Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J. , Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L., Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A., Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C., Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K., Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R., Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S. Nature 437:551-555(2005) [PubMed: 16177791] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 451-659. Tissue: Lung.
[4]	"A novel gene expressed in human bone marrow." Zhao M., Song H., Li N., Peng Y., Han Z., Chen Z. Submitted (NOV-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 508-659. Tissue: Bone marrow.
[5]	"Implication of chromosome 18 in hypertension by sibling pair and association analyses: putative involvement of the RKHD2 gene." Guzman B., Cormand B., Ribases M., Gonzalez-Nunez D., Botey A., Poch E. Hypertension 48:883-891(2006) [PubMed: 17015768] [Abstract] Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO HYT8.
[6]	"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis." Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III J. Proteome Res. 7:1346-1351(2008) [PubMed: 18220336] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-545, MASS SPECTROMETRY.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AY950679 mRNA. Translation: AAY34147.1. AC090330 Genomic DNA. No translation available. BC041122 mRNA. Translation: AAH41122.1. AF208855 mRNA. Translation: AAF64269.1. Sequence problems.
IPI	IPI00790901.
RefSeq	NP_057710.3.
UniGene	Hs.465144
3D structure databases
SMR	Q5U5Q3. Positions 326-396.
ModBase	Search...
PTM databases
PhosphoSite	Q5U5Q3.
Genome annotation databases
Ensembl	ENSG00000176624. Homo sapiens. [Contig view]
GeneID	51320.
KEGG	hsa:51320.
Organism-specific databases
GeneCards	GC18M046955.
HGNC	HGNC:28040. MEX3C.
MIM	611005. gene. 611014. phenotype.
PharmGKB	PA134885658.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q5U5Q3.
OMA	Q5U5Q3. PELEGDG.
Gene expression databases
ArrayExpress	Q5U5Q3.
Bgee	Q5U5Q3.
CleanEx	HS_MEX3C.
Family and domain databases
InterPro	IPR004087. KH. IPR004088. KH_type_1. IPR018111. KH_type_1_subgr. IPR018957. Znf_C3HC4_RING-type. IPR001841. Znf_RING. IPR017907. Znf_RING_CS. [Graphical view]
Pfam	PF00013. KH_1. 2 hits. PF00097. zf-C3HC4. 1 hit. [Graphical view]
SMART	SM00322. KH. 2 hits. SM00184. RING. 1 hit. [Graphical view]
PROSITE	PS50084. KH_TYPE_1. 2 hits. PS00518. ZF_RING_1. False negative. PS50089. ZF_RING_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	54697.
SOURCE	Search...

Entry information

Entry name

MEX3C_HUMAN

Accession

Primary (citable) accession number: Q5U5Q3
Secondary accession number(s): A1L022, Q9NZE3

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 20, 2007
Last sequence update:	March 20, 2007
Last modified:	June 16, 2009
This is version 43 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)