UniProt functional annotation for Q9ULV0



	UniProt functional annotation for Q9ULV0

UniProt code: Q9ULV0.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: May be involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation. Required in a complex with RAB11A and RAB11FIP2 for the transport of NPC1L1 to the plasma membrane. Together with RAB11A participates in CFTR trafficking to the plasma membrane and TF (transferrin) recycling in nonpolarized cells. Together with RAB11A and RAB8A participates in epithelial cell polarization. Together with RAB25 regulates transcytosis. {ECO:0000269|PubMed:21206382, ECO:0000269|PubMed:21282656}.

Subunit: Component of the CART complex, at least composed of ACTN4, HGS/HRS, MYO5B and TRIM3. Interacts with RAB11FIP2, RAB11A, and RAB8A. Found in a complex with CFTR and RAB11A. Interacts with NPC1L1; (PubMed:19542231). Interacts with LIMA1 (PubMed:29880681). {ECO:0000269|PubMed:11495908, ECO:0000269|PubMed:15772161, ECO:0000269|PubMed:17462998, ECO:0000269|PubMed:19542231, ECO:0000269|PubMed:21282656, ECO:0000269|PubMed:29880681}.

Subcellular location: Cytoplasm {ECO:0000250|UniProtKB:P70569}.

Disease: Diarrhea 2, with microvillus atrophy (DIAR2) [MIM:251850]: A disease characterized by onset of intractable life-threatening watery diarrhea during infancy. Two forms are recognized: early-onset microvillus inclusion disease with diarrhea beginning in the neonatal period, and late-onset, with first symptoms appearing after 3 or 4 months of life. {ECO:0000269|PubMed:18724368, ECO:0000269|PubMed:19006234, ECO:0000269|PubMed:20186687, ECO:0000269|PubMed:21206382, ECO:0000269|PubMed:24138727, ECO:0000269|PubMed:24892806}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. {ECO:0000305}.

Sequence caution: Sequence=BAA86433.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		May be involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation. Required in a complex with RAB11A and RAB11FIP2 for the transport of NPC1L1 to the plasma membrane. Together with RAB11A participates in CFTR trafficking to the plasma membrane and TF (transferrin) recycling in nonpolarized cells. Together with RAB11A and RAB8A participates in epithelial cell polarization. Together with RAB25 regulates transcytosis. {ECO:0000269\|PubMed:21206382, ECO:0000269\|PubMed:21282656}.


Subunit:		Component of the CART complex, at least composed of ACTN4, HGS/HRS, MYO5B and TRIM3. Interacts with RAB11FIP2, RAB11A, and RAB8A. Found in a complex with CFTR and RAB11A. Interacts with NPC1L1; (PubMed:19542231). Interacts with LIMA1 (PubMed:29880681). {ECO:0000269\|PubMed:11495908, ECO:0000269\|PubMed:15772161, ECO:0000269\|PubMed:17462998, ECO:0000269\|PubMed:19542231, ECO:0000269\|PubMed:21282656, ECO:0000269\|PubMed:29880681}.
Subcellular location:		Cytoplasm {ECO:0000250\|UniProtKB:P70569}.
Disease:		Diarrhea 2, with microvillus atrophy (DIAR2) [MIM:251850]: A disease characterized by onset of intractable life-threatening watery diarrhea during infancy. Two forms are recognized: early-onset microvillus inclusion disease with diarrhea beginning in the neonatal period, and late-onset, with first symptoms appearing after 3 or 4 months of life. {ECO:0000269\|PubMed:18724368, ECO:0000269\|PubMed:19006234, ECO:0000269\|PubMed:20186687, ECO:0000269\|PubMed:21206382, ECO:0000269\|PubMed:24138727, ECO:0000269\|PubMed:24892806}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. {ECO:0000305}.
Sequence caution:		Sequence=BAA86433.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};