Q60I27 · AL2CL_HUMAN
- ProteinALS2 C-terminal-like protein
- GeneALS2CL
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids953 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Acts as a guanine nucleotide exchange factor (GEF) for Rab5 GTPase. Regulates the ALS2-mediated endosome dynamics.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | cytoplasm | |
Cellular Component | cytoplasmic vesicle | |
Cellular Component | cytosol | |
Molecular Function | GTPase activator activity | |
Molecular Function | guanyl-nucleotide exchange factor activity | |
Molecular Function | small GTPase binding | |
Biological Process | endosomal transport |
Keywords
- Molecular function
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameALS2 C-terminal-like protein
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ60I27
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Note: Distributed onto the vesicular compartments in the cytoplasm with strong punctated staining. Colocalizes with RAB5A onto the vesicular/membranous compartments in the cytoplasm, particularly to the leading edges of the cells.
Keywords
- Cellular component
Disease & Variants
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_061554 | 29 | in dbSNP:rs59661801 | |||
Sequence: Q → R | ||||||
Natural variant | VAR_037791 | 45 | in dbSNP:rs7642448 | |||
Sequence: E → Q | ||||||
Natural variant | VAR_037792 | 280 | in a breast cancer sample; somatic mutation | |||
Sequence: Q → E | ||||||
Natural variant | VAR_037793 | 576 | in a breast cancer sample; somatic mutation | |||
Sequence: L → F |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 1,264 variants from UniProt as well as other sources including ClinVar and dbSNP.
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000313849 | 1-953 | ALS2 C-terminal-like protein | |||
Sequence: MCNPEEAALLRLEEVFSATLAHVNSLVLQPLLPAAPDPSDPWGRECLRLLQQLHKSSQQLWEVTEESLHSLQERLRYPDSTGLESLLLLRGADRVLQAHIEYIESYTSCMVVQAFQKAAKRRSEYWRGQRKALRQLLSGVSSEGSVGASLGQALHQPLAHHVQQYVLLLLSLGDTIGEHHPTRELVVNAVTLFGNLQSFMKQELDQAVATQALWHTLRGRLRDVLCTPAHRLLQDSQDVPVTVAPLRAERVLLFDDALVLLQGHNVHTFDLKLVWVDPGQDGCTFHLLTPEEEFSFCAKDSQGQAVWQWKVTWAVHQALHGKKDFPVLGAGLEPSQPPDCRCAEYTFQAEGRLCQATYEGEWCRGRPHGKGTLKWPDGRNHVGNFCQGLEHGFGIRLLPQASEDKFDCYKCHWREGSMCGYGICEYSTDEVYKGYFQEGLRHGFGVLESGPQAPQPFRYTGHWERGQRSGYGIEEDGDRGERYIGMWQAGQRHGPGVMVTQAGVCYQGTFQADKTVGPGILLSEDDSLYEGTFTRDLTLMGKGKVTFPNGFTLEGSFGSGAGRGLHTQGVLDTAALPPDPSSTCKRQLGVGAFPVESRWQGVYSPFRDFVCAGCPRDLQEALLGFDVQSSRELRRSQDYLSCERTHPEDSVGSMEDILEELLQHREPKALQLYLRKALSNSLHPLGKLLRTLMLTFQATYAGVGANKHLQELAQEEVKQHAQELWAAYRGLLRVALERKGQALEEDEDTETRDLQVHGLVLPLMLPSFYSELFTLYLLLHEREDSFYSQGIANLSLFPDTQLLEFLDVQKHLWPLKDLTLTSNQRYSLVRDKCFLSATECLQKIMTTVDPREKLEVLERTYGEIEGTVSRVLGREYKLPMDDLLPLLIYVVSRARIQHLGAEIHLIRDMMDPNHTGGLYDFLLTALESCYEHIQKEDMRLHRLPGHWHSRELW |
Proteomic databases
PTM databases
Expression
Tissue specificity
Expressed in heart and kidney.
Gene expression databases
Organism-specific databases
Interaction
Subunit
Homodimer. Forms a heteromeric complex with ALS2 (By similarity).
Interacts with ALS2 and RAB5A
Interacts with ALS2 and RAB5A
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q60I27 | EEF1AKMT3 Q96AZ1 | 3 | EBI-12078276, EBI-12108304 | |
BINARY | Q60I27 | RAB22A Q9UL26 | 3 | EBI-12078276, EBI-399456 | |
BINARY | Q60I27 | RAB31 Q13636 | 3 | EBI-12078276, EBI-725987 | |
BINARY | Q60I27 | RAB5C P51148 | 3 | EBI-12078276, EBI-1054923 | |
BINARY | Q60I27 | RSPH14 Q9UHP6 | 3 | EBI-12078276, EBI-748350 | |
BINARY | Q60I27 | SAXO4 Q7Z5V6-2 | 3 | EBI-12078276, EBI-12000762 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for repeat, domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Repeat | 358-380 | MORN 1 | ||||
Sequence: YEGEWCRGRPHGKGTLKWPDGRN | ||||||
Repeat | 381-403 | MORN 2 | ||||
Sequence: HVGNFCQGLEHGFGIRLLPQASE | ||||||
Repeat | 409-431 | MORN 3 | ||||
Sequence: YKCHWREGSMCGYGICEYSTDEV | ||||||
Repeat | 432-452 | MORN 4 | ||||
Sequence: YKGYFQEGLRHGFGVLESGPQ | ||||||
Repeat | 459-479 | MORN 5 | ||||
Sequence: YTGHWERGQRSGYGIEEDGDR | ||||||
Repeat | 483-505 | MORN 6 | ||||
Sequence: YIGMWQAGQRHGPGVMVTQAGVC | ||||||
Repeat | 506-528 | MORN 7 | ||||
Sequence: YQGTFQADKTVGPGILLSEDDSL | ||||||
Repeat | 529-552 | MORN 8 | ||||
Sequence: YEGTFTRDLTLMGKGKVTFPNGFT | ||||||
Domain | 796-942 | VPS9 | ||||
Sequence: LFPDTQLLEFLDVQKHLWPLKDLTLTSNQRYSLVRDKCFLSATECLQKIMTTVDPREKLEVLERTYGEIEGTVSRVLGREYKLPMDDLLPLLIYVVSRARIQHLGAEIHLIRDMMDPNHTGGLYDFLLTALESCYEHIQKEDMRLHR |
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 6 isoforms produced by Alternative splicing.
Q60I27-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length953
- Mass (Da)107,748
- Last updated2004-11-23 v1
- Checksum1BBC38A16E6A1168
Q60I27-2
- Name2
- Differences from canonical
- 1-199: Missing
Q60I27-3
- Name3
- Differences from canonical
- 1-485: Missing
Q60I27-4
- Name4
Q60I27-5
- Name5
- Differences from canonical
- 1-763: Missing
Q60I27-6
- Name6
- Differences from canonical
- 1-653: Missing
Computationally mapped potential isoform sequences
There are 2 potential isoforms mapped to this entry
Sequence caution
Features
Showing features for alternative sequence, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_030170 | 1-199 | in isoform 2 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_030169 | 1-485 | in isoform 3 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_043859 | 1-653 | in isoform 6 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_030168 | 1-763 | in isoform 4 and isoform 5 | |||
Sequence: Missing | ||||||
Sequence conflict | 172 | in Ref. 2; BAD18448 | ||||
Sequence: L → P | ||||||
Sequence conflict | 430 | in Ref. 2; BAD18448 | ||||
Sequence: E → G | ||||||
Sequence conflict | 711 | in Ref. 2; BAD18450 | ||||
Sequence: E → G | ||||||
Sequence conflict | 893 | in Ref. 2; BAD18448 | ||||
Sequence: R → H | ||||||
Alternative sequence | VSP_030171 | 896-953 | in isoform 4 | |||
Sequence: IQHLGAEIHLIRDMMDPNHTGGLYDFLLTALESCYEHIQKEDMRLHRLPGHWHSRELW → WGSQGPEKGGSQPGCWGARGRVRTTPQVSSHPGQRSFPSCLSATGLFSLSPSLSWWGGVLQNSAPGSRDPPDP |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AB107015 EMBL· GenBank· DDBJ | BAD51817.1 EMBL· GenBank· DDBJ | mRNA | ||
AK092455 EMBL· GenBank· DDBJ | BAC03895.1 EMBL· GenBank· DDBJ | mRNA | ||
AK093844 EMBL· GenBank· DDBJ | BAC04237.1 EMBL· GenBank· DDBJ | mRNA | ||
AK131273 EMBL· GenBank· DDBJ | BAD18450.1 EMBL· GenBank· DDBJ | mRNA | Frameshift | |
AK131270 EMBL· GenBank· DDBJ | BAD18448.1 EMBL· GenBank· DDBJ | mRNA | ||
AK126505 EMBL· GenBank· DDBJ | BAC86572.1 EMBL· GenBank· DDBJ | mRNA | ||
AC104304 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC134504 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471055 EMBL· GenBank· DDBJ | EAW64777.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC042906 EMBL· GenBank· DDBJ | AAH42906.1 EMBL· GenBank· DDBJ | mRNA | ||
BC061883 EMBL· GenBank· DDBJ | AAH61883.1 EMBL· GenBank· DDBJ | mRNA | ||
BC075825 EMBL· GenBank· DDBJ | AAH75825.1 EMBL· GenBank· DDBJ | mRNA | ||
BC109233 EMBL· GenBank· DDBJ | AAI09234.1 EMBL· GenBank· DDBJ | mRNA | ||
CR627258 EMBL· GenBank· DDBJ | CAH10367.1 EMBL· GenBank· DDBJ | mRNA |