Diaphanous Homolog 1 (DIAPH1)

DFNA1; DRF1; LFHL1; hDIA1; Diaphanous-related formin-1

SPN	O484
HGNC	2876
MGI	1194490
PubMed	24105619
RGD	1310707
UniProt	O60610
Wiki	DIAPH1

DIAPH1 is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear.

This human homolog of diaphanous has approximately 3,800 bp of coding sequence and a 3-prime untranslated region (UTR) of 918 or 1,891 bp.expressed in brain, heart, placenta, lung, kidney, pancreas, liver, and skeletal muscle. A single transcript of 4.7 kb was observed in all tissues, with highest expression in skeletal muscle.

Reference

"Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous."
Science 278:1315-1318(1997) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and comparative analysis of human chromosome 5."
Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"HAN11 binds mDia1 and controls GLI1 transcriptional activity."
J. Dermatol. Sci. 44:11-20(2006) [PubMed] [Europe PMC] [Abstract]

"The proline-rich focal adhesion and microfilament protein VASP is a ligand for profilins."
EMBO J. 14:1583-1589(1995) [PubMed] [Europe PMC] [Abstract]

"Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry."
Proteomics 7:868-874(2007) [PubMed] [Europe PMC] [Abstract]

"A quantitative atlas of mitotic phosphorylation."
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]

"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]

"Lysine acetylation targets protein complexes and co-regulates major cellular functions."
Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]

"ErbB2 receptor controls microtubule capture by recruiting ACF7 to the plasma membrane of migrating cells."
Proc. Natl. Acad. Sci. U.S.A. 107:18517-18522(2010) [PubMed] [Europe PMC] [Abstract]

"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]

"Identification and characterization of a set of conserved and new regulators of cytoskeletal organisation, cell morphology and migration."
BMC Biol. 9:54-54(2011) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]

"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]