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Immunogen sequence: MTQQPLRGV TSLRFNQDQS CFCCAMETGV RIYNVEPLME KGHLDHEQVG SMGLVEMLHR SNLLALVGGG SSPKFSEISV LIWDDAREGK DSKEKLVLEF TFTKPVLSVR MRHDKIVIVL KNRIYVYSFP DNPRKLFEFD TRDNPKGLCD LCPSLEKQLL VFPGHKCGSL QLVDLASTKP GTSSAPFTIN AHQSDIACVS LNQPGTVVAS ASQKGTLIRL FDTQSKEKLV ELRRGTDPAT LYCINFSHDS SFLCASSDKG TVHIFALKDT RLNRRSALAR VGKVGPMIGQ YVDSQWSLAS FTVPAESACI CAFGRNTSKN VNSVIAICVD GTFHKYVFTP DGNCNREAFD VYLDICDDDD F (1-360 aa encoded by BC000464)
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene has a pseudogene at chromosome 4q31.3. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity and full-length nature of some variants have not been determined.
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Protein Aliases: neurodegeneration with brain iron accumulation 4; neurodegeneration with brain iron accumulation 5; WD repeat domain phosphoinositide-interacting protein 4; WD repeat domain X-linked 1; WD repeat domain, X-linked 1; WD repeat-containing protein 45; WD45 repeat protein interacting with phosphoinositides 4; WIPI-4
Gene Aliases: C79260; DXImx38e; JM5; NBIA4; NBIA5; Sfc19; WDR45; WDRX1; WDRXI4; WIPI-4; WIPI4
UniProt ID: (Human) Q9Y484, (Mouse) Q91VM3
Entrez Gene ID: (Human) 11152, (Mouse) 54636
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