SMART: Pfam domain DUF4472

The domain within your query sequence starts at position 63 and ends at position 190; the E-value for the DUF4472 domain shown below is 5.5e-23.

SEEQRLQISKELVDLQIATHHLREQHEAEVFELRREILRLESRVLELELHGNGACQGHKV
QPMANLGQHQVPPLEPPGGQQKLQEELKWLLEHHRARQQALETQVGVLSQQLQGAREEAR
TTGQQLAS

DUF4472

PFAM accession number:	PF14739
Interpro abstract (IPR029329):	This domain is found in proteins from Metazoa. Some proteins also carry kinesin-motor domains at their N terminus ( IPR001752 ). Proteins containing this domain include the coiled-coil domain-containing protein 78 (CCDC78), which is a component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells that can generate more than 100 centrioles [ (PUBMED:24075808) ]. CCDC78 does not have the kinesin-motor domain. Mutations in CCDC78 genes cause Myopathy, centronuclear, 4 (CNM4), which is a congenital muscle disorder characterised by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles [ (PUBMED:22818856) ].

PFAM accession number:

PF14739

Interpro abstract (IPR029329):

This domain is found in proteins from Metazoa. Some proteins also carry kinesin-motor domains at their N terminus ( IPR001752 ).

Proteins containing this domain include the coiled-coil domain-containing protein 78 (CCDC78), which is a component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells that can generate more than 100 centrioles [ (PUBMED:24075808) ]. CCDC78 does not have the kinesin-motor domain. Mutations in CCDC78 genes cause Myopathy, centronuclear, 4 (CNM4), which is a congenital muscle disorder characterised by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles [ (PUBMED:22818856) ].

This is a PFAM domain. For full annotation and more information, please see the PFAM entry DUF4472