CHM1A_DANRE
ID CHM1A_DANRE Reviewed; 198 AA.
AC Q6PHF0; Q6NWA3;
DT 30-AUG-2005, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 93.
DE RecName: Full=Charged multivesicular body protein 1a;
DE AltName: Full=Chromatin-modifying protein 1a;
DE Short=CHMP1a;
GN Name=chmp1a; Synonyms=km0004, pcoln3; ORFNames=zgc:65914, zgc:85863;
OS Danio rerio (Zebrafish) (Brachydanio rerio).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC Danionidae; Danioninae; Danio.
OX NCBI_TaxID=7955;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Kidney marrow;
RX PubMed=15520368; DOI=10.1073/pnas.0407241101;
RA Song H.-D., Sun X.-J., Deng M., Zhang G.-W., Zhou Y., Wu X.-Y., Sheng Y.,
RA Chen Y., Ruan Z., Jiang C.-L., Fan H.-Y., Zon L.I., Kanki J.P., Liu T.X.,
RA Look A.T., Chen Z.;
RT "Hematopoietic gene expression profile in zebrafish kidney marrow.";
RL Proc. Natl. Acad. Sci. U.S.A. 101:16240-16245(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Embryo;
RG NIH - Zebrafish Gene Collection (ZGC) project;
RL Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP DISRUPTION PHENOTYPE.
RX PubMed=23023333; DOI=10.1038/ng.2425;
RA Mochida G.H., Ganesh V.S., de Michelena M.I., Dias H., Atabay K.D.,
RA Kathrein K.L., Huang H.T., Hill R.S., Felie J.M., Rakiec D., Gleason D.,
RA Hill A.D., Malik A.N., Barry B.J., Partlow J.N., Tan W.H., Glader L.J.,
RA Barkovich A.J., Dobyns W.B., Zon L.I., Walsh C.A.;
RT "CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar
RT development.";
RL Nat. Genet. 44:1260-1264(2012).
CC -!- FUNCTION: Probable peripherally associated component of the endosomal
CC sorting required for transport complex III (ESCRT-III) which is
CC involved in multivesicular bodies (MVBs) formation and sorting of
CC endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles
CC (ILVs) that are generated by invagination and scission from the
CC limiting membrane of the endosome and mostly are delivered to lysosomes
CC enabling degradation of membrane proteins, such as stimulated growth
CC factor receptors, lysosomal enzymes and lipids (By similarity).
CC {ECO:0000250}.
CC -!- SUBUNIT: Probable peripherally associated component of the endosomal
CC sorting required for transport complex III (ESCRT-III). {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Endosome membrane
CC {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.
CC -!- DISRUPTION PHENOTYPE: Reduced cerebellar and forebrain volume. The
CC phenotype of these animals resemble that seen in those after bmi1
CC knockdown, supporting a link between chmp1a and bmi1. In chmp1a
CC knockdown models, the internal granule and molecular layers were more
CC severely affected than the Purkinje cells, which are consistent with
CC the relatively preserved folia observed in humans with CHMP1A
CC mutations. {ECO:0000269|PubMed:23023333}.
CC -!- SIMILARITY: Belongs to the SNF7 family. {ECO:0000305}.
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DR EMBL; AY398372; AAQ97805.1; -; mRNA.
DR EMBL; BC056577; AAH56577.1; -; mRNA.
DR EMBL; BC067665; AAH67665.1; -; mRNA.
DR RefSeq; NP_956857.1; NM_200563.2.
DR RefSeq; XP_009296498.1; XM_009298223.2.
DR AlphaFoldDB; Q6PHF0; -.
DR SMR; Q6PHF0; -.
DR STRING; 7955.ENSDARP00000076077; -.
DR PaxDb; Q6PHF0; -.
DR GeneID; 393535; -.
DR KEGG; dre:393535; -.
DR CTD; 5119; -.
DR ZFIN; ZDB-GENE-040426-1474; chmp1a.
DR eggNOG; KOG3232; Eukaryota.
DR InParanoid; Q6PHF0; -.
DR OrthoDB; 1441797at2759; -.
DR PhylomeDB; Q6PHF0; -.
DR PRO; PR:Q6PHF0; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Unplaced.
DR GO; GO:0000815; C:ESCRT III complex; IBA:GO_Central.
DR GO; GO:0005771; C:multivesicular body; IBA:GO_Central.
DR GO; GO:0016363; C:nuclear matrix; IEA:InterPro.
DR GO; GO:0021549; P:cerebellum development; IMP:ZFIN.
DR GO; GO:0032509; P:endosome transport via multivesicular body sorting pathway; IBA:GO_Central.
DR GO; GO:0045324; P:late endosome to vacuole transport; IBA:GO_Central.
DR GO; GO:0007076; P:mitotic chromosome condensation; IEA:InterPro.
DR GO; GO:0015031; P:protein transport; IBA:GO_Central.
DR InterPro; IPR029888; CHMP1A.
DR InterPro; IPR005024; Snf7_fam.
DR PANTHER; PTHR10476; PTHR10476; 1.
DR PANTHER; PTHR10476:SF17; PTHR10476:SF17; 1.
DR Pfam; PF03357; Snf7; 1.
PE 2: Evidence at transcript level;
KW Coiled coil; Cytoplasm; Endosome; Membrane; Protein transport;
KW Reference proteome; Transport.
FT CHAIN 1..198
FT /note="Charged multivesicular body protein 1a"
FT /id="PRO_0000211451"
FT REGION 171..198
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 7..41
FT /evidence="ECO:0000255"
FT COILED 176..198
FT /evidence="ECO:0000255"
FT MOTIF 187..197
FT /note="MIT-interacting motif"
FT COMPBIAS 180..198
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 54
FT /note="R -> C (in Ref. 2; AAH67665)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 198 AA; 21888 MW; 98DF939479197663 CRC64;
MDDTLFQLKF TSKQLERLAK KAEKDSKSEQ AKVKKALQQK NVECARVYAE NAIRKKNEGL
NWLRMASRVD AVASKVQTAL TMKGVAKNMT QVTKALDKAL SSMDLQKVSA VMDKFETQVQ
NLDVHTSVME DSMSSATTLS TPQQQVDDLI LQIAEESGLE VEDQLSQLPA GASALGETSA
RAQEKEDQLS RRLAALRN
