O76039 · CDKL5_HUMAN
- ProteinCyclin-dependent kinase-like 5
- GeneCDKL5
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids960 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
May regulate ciliogenesis (PubMed:29420175).
Catalytic activity
- ATP + L-seryl-[protein] = ADP + H+ + O-phospho-L-seryl-[protein]
Features
Showing features for binding site, active site.
GO annotations
Keywords
- Molecular function
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameCyclin-dependent kinase-like 5
- EC number
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionO76039
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Developmental and epileptic encephalopathy 2 (DEE2)
- Note
- DescriptionA severe form of epilepsy characterized by seizures or spasms beginning in infancy. Patients with epileptic encephalopathy early infantile type 2 manifest features resembling Rett syndrome such as microcephaly, lack of speech development, stereotypic hand movements. However, DEE2 and Rett syndrome are considered two distinct entities.
- See alsoMIM:300672
Natural variants in DEE2
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_058022 | 40 | A>V | in DEE2; causes mislocalization of the protein in the cytoplasm; dbSNP:rs122460159 | |
VAR_058023 | 72 | I>N | in DEE2; dbSNP:rs62641235 | |
VAR_058024 | 72 | I>T | in DEE2; dbSNP:rs62641235 | |
VAR_058025 | 127 | H>R | in DEE2; dbSNP:rs267608468 | |
VAR_078625 | 145 | H>Y | in DEE2; uncertain significance | |
VAR_023560 | 152 | C>F | in DEE2; affect activity; causes mislocalization of the protein in the cytoplasm; dbSNP:rs122460157 | |
VAR_023561 | 175 | R>S | in DEE2; affect activity; does not affect the cellular distribution of the protein; dbSNP:rs61749700 | |
VAR_058026 | 178 | R>P | in DEE2; dbSNP:rs267606715 | |
VAR_071103 | 178 | R>Q | in DEE2; dbSNP:rs267606715 | |
VAR_078712 | 178 | R>W | in DEE2; dbSNP:rs267608493 | |
VAR_037635 | 180 | P>L | in DEE2; dbSNP:rs61749704 | |
VAR_078626 | 182 | L>P | in DEE2; dbSNP:rs2147145603 | |
VAR_078219 | 196 | S>L | in DEE2; dbSNP:rs267608501 | |
VAR_078627 | 207 | G>E | in DEE2 | |
VAR_058027 | 220 | L>P | in DEE2; causes mislocalization of the protein in the cytoplasm; dbSNP:rs267608511 | |
VAR_058028 | 288 | T>I | in DEE2; dbSNP:rs267606713 | |
VAR_058029 | 291 | C>Y | in DEE2; dbSNP:rs267606714 | |
VAR_058030 | 399 | N>T | in DEE2; dbSNP:rs267608611 | |
VAR_078628 | 581 | H>Y | in DEE2; uncertain significance | |
VAR_058032 | 718 | V>M | in DEE2; dbSNP:rs267608653 | |
VAR_078714 | 726-960 | missing | in DEE2 | |
VAR_037636 | 793 | V>A | in DEE2; uncertain significance; dbSNP:rs62643617 | |
VAR_078630 | 858 | R>C | in DEE2; uncertain significance; dbSNP:rs773760466 | |
VAR_083797 | 994 | G>R | In isoform O76039-1; in DEE2; uncertain significance; dbSNP:rs866859766 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_058022 | 40 | in DEE2; causes mislocalization of the protein in the cytoplasm; dbSNP:rs122460159 | |||
Sequence: A → V | ||||||
Natural variant | VAR_058023 | 72 | in DEE2; dbSNP:rs62641235 | |||
Sequence: I → N | ||||||
Natural variant | VAR_058024 | 72 | in DEE2; dbSNP:rs62641235 | |||
Sequence: I → T | ||||||
Natural variant | VAR_058025 | 127 | in DEE2; dbSNP:rs267608468 | |||
Sequence: H → R | ||||||
Natural variant | VAR_078625 | 145 | in DEE2; uncertain significance | |||
Sequence: H → Y | ||||||
Natural variant | VAR_023560 | 152 | in DEE2; affect activity; causes mislocalization of the protein in the cytoplasm; dbSNP:rs122460157 | |||
Sequence: C → F | ||||||
Natural variant | VAR_023561 | 175 | in DEE2; affect activity; does not affect the cellular distribution of the protein; dbSNP:rs61749700 | |||
Sequence: R → S | ||||||
Natural variant | VAR_058026 | 178 | in DEE2; dbSNP:rs267606715 | |||
Sequence: R → P | ||||||
Natural variant | VAR_071103 | 178 | in DEE2; dbSNP:rs267606715 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_078712 | 178 | in DEE2; dbSNP:rs267608493 | |||
Sequence: R → W | ||||||
Natural variant | VAR_037635 | 180 | in DEE2; dbSNP:rs61749704 | |||
Sequence: P → L | ||||||
Natural variant | VAR_078626 | 182 | in DEE2; dbSNP:rs2147145603 | |||
Sequence: L → P | ||||||
Natural variant | VAR_078219 | 196 | in DEE2; dbSNP:rs267608501 | |||
Sequence: S → L | ||||||
Natural variant | VAR_078627 | 207 | in DEE2 | |||
Sequence: G → E | ||||||
Natural variant | VAR_058027 | 220 | in DEE2; causes mislocalization of the protein in the cytoplasm; dbSNP:rs267608511 | |||
Sequence: L → P | ||||||
Natural variant | VAR_058028 | 288 | in DEE2; dbSNP:rs267606713 | |||
Sequence: T → I | ||||||
Natural variant | VAR_058029 | 291 | in DEE2; dbSNP:rs267606714 | |||
Sequence: C → Y | ||||||
Natural variant | VAR_036578 | 368 | in a colorectal cancer sample; somatic mutation | |||
Sequence: N → H | ||||||
Natural variant | VAR_041997 | 374 | in a metastatic melanoma sample; somatic mutation | |||
Sequence: A → T | ||||||
Natural variant | VAR_058030 | 399 | in DEE2; dbSNP:rs267608611 | |||
Sequence: N → T | ||||||
Natural variant | VAR_058031 | 444 | in dbSNP:rs61753977 | |||
Sequence: R → C | ||||||
Natural variant | VAR_041998 | 574 | in an ovarian serous carcinoma sample; somatic mutation; dbSNP:rs199897804 | |||
Sequence: P → Q | ||||||
Natural variant | VAR_078628 | 581 | in DEE2; uncertain significance | |||
Sequence: H → Y | ||||||
Natural variant | VAR_078713 | 647 | found in a patient with autism spectrum disorder; likely pathogenic | |||
Sequence: P → L | ||||||
Natural variant | VAR_058032 | 718 | in DEE2; dbSNP:rs267608653 | |||
Sequence: V → M | ||||||
Natural variant | VAR_078714 | 726-960 | in DEE2 | |||
Sequence: Missing | ||||||
Natural variant | VAR_041999 | 734 | in dbSNP:rs55803460 | |||
Sequence: T → A | ||||||
Natural variant | VAR_023562 | 791 | in dbSNP:rs35478150 | |||
Sequence: Q → P | ||||||
Natural variant | VAR_037636 | 793 | in DEE2; uncertain significance; dbSNP:rs62643617 | |||
Sequence: V → A | ||||||
Natural variant | VAR_078629 | 855-960 | found in a patient with infatile spasms; likely pathogenic | |||
Sequence: Missing | ||||||
Natural variant | VAR_078630 | 858 | in DEE2; uncertain significance; dbSNP:rs773760466 | |||
Sequence: R → C | ||||||
Natural variant | VAR_083796 | 923 | In isoform O76039-1; in dbSNP:rs267608664 | |||
Sequence: R → C | ||||||
Natural variant | VAR_083797 | 994 | In isoform O76039-1; in DEE2; uncertain significance; dbSNP:rs866859766 | |||
Sequence: G → R | ||||||
Natural variant | VAR_083798 | 999 | In isoform O76039-1; in dbSNP:rs35693326 | |||
Sequence: V → M | ||||||
Natural variant | VAR_083799 | 1023 | In isoform O76039-1; in dbSNP:rs34166184 | |||
Sequence: E → G |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 1,115 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue (large scale data), modified residue.
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000085826 | 1-960 | UniProt | Cyclin-dependent kinase-like 5 | |||
Sequence: MKIPNIGNVMNKFEILGVVGEGAYGVVLKCRHKETHEIVAIKKFKDSEENEEVKETTLRELKMLRTLKQENIVELKEAFRRRGKLYLVFEYVEKNMLELLEEMPNGVPPEKVKSYIYQLIKAIHWCHKNDIVHRDIKPENLLISHNDVLKLCDFGFARNLSEGNNANYTEYVATRWYRSPELLLGAPYGKSVDMWSVGCILGELSDGQPLFPGESEIDQLFTIQKVLGPLPSEQMKLFYSNPRFHGLRFPAVNHPQSLERRYLGILNSVLLDLMKNLLKLDPADRYLTEQCLNHPTFQTQRLLDRSPSRSAKRKPYHVESSTLSNRNQAGKSTALQSHHRSNSKDIQNLSVGLPRADEGLPANESFLNGNLAGASLSPLHTKTYQASSQPGSTSKDLTNNNIPHLLSPKEAKSKTEFDFNIDPKPSEGPGTKYLKSNSRSQQNRHSFMESSQSKAGTLQPNEKQSRHSYIDTIPQSSRSPSYRTKAKSHGALSDSKSVSNLSEARAQIAEPSTSRYFPSSCLDLNSPTSPTPTRHSDTRTLLSPSGRNNRNEGTLDSRRTTTRHSKTMEELKLPEHMDSSHSHSLSAPHESFSYGLGYTSPFSSQQRPHRHSMYVTRDKVRAKGLDGSLSIGQGMAARANSLQLLSPQPGEQLPPEMTVARSSVKETSREGTSSFHTRQKSEGGVYHDPHSDDGTAPKENRHLYNDPVPRRVGSFYRVPSPRPDNSFHENNVSTRVSSLPSESSSGTNHSKRQPAFDPWKSPENISHSEQLKEKEKQGFFRSMKKKKKKSQTVPNSDSPDLLTLQKSIHSASTPSSRPKEWRPEKISDLQTQSQPLKSLRKLLHLSSASNHPASSDPRFQPLTAQQTKNSFSEIRIHPLSQASGGSSNIRQEPAPKGRPALQLPGQMDPGWHVSSVTRSATEGPSYSEQLGAKSGPNGHPYNRTNRSRMPNLNDLKETAL | |||||||
Modified residue (large scale data) | 171 | PRIDE | Phosphotyrosine | ||||
Sequence: Y | |||||||
Modified residue (large scale data) | 174 | PRIDE | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue (large scale data) | 306 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 377 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 407 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 407 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 468 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 479 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 479 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 529 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 531 | PRIDE | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue (large scale data) | 543 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 681 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 720 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 720 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 761 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 761 | PRIDE | Phosphoserine | ||||
Sequence: S |
Post-translational modification
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Isoform 2
Gene expression databases
Organism-specific databases
Interaction
Subunit
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | O76039 | GOLGA2 Q08379 | 3 | EBI-1752465, EBI-618309 | |
BINARY | O76039 | MLH1 P40692 | 4 | EBI-1752465, EBI-744248 | |
BINARY | O76039 | SERPINB8 P50452 | 2 | EBI-1752465, EBI-6916752 |
Protein-protein interaction databases
Chemistry
Miscellaneous
Structure
Family & Domains
Features
Showing features for domain, region, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Domain | 13-297 | Protein kinase | ||||
Sequence: FEILGVVGEGAYGVVLKCRHKETHEIVAIKKFKDSEENEEVKETTLRELKMLRTLKQENIVELKEAFRRRGKLYLVFEYVEKNMLELLEEMPNGVPPEKVKSYIYQLIKAIHWCHKNDIVHRDIKPENLLISHNDVLKLCDFGFARNLSEGNNANYTEYVATRWYRSPELLLGAPYGKSVDMWSVGCILGELSDGQPLFPGESEIDQLFTIQKVLGPLPSEQMKLFYSNPRFHGLRFPAVNHPQSLERRYLGILNSVLLDLMKNLLKLDPADRYLTEQCLNHPTF | ||||||
Region | 300-349 | Disordered | ||||
Sequence: QRLLDRSPSRSAKRKPYHVESSTLSNRNQAGKSTALQSHHRSNSKDIQNL | ||||||
Compositional bias | 317-349 | Polar residues | ||||
Sequence: HVESSTLSNRNQAGKSTALQSHHRSNSKDIQNL | ||||||
Compositional bias | 382-406 | Polar residues | ||||
Sequence: KTYQASSQPGSTSKDLTNNNIPHLL | ||||||
Region | 382-566 | Disordered | ||||
Sequence: KTYQASSQPGSTSKDLTNNNIPHLLSPKEAKSKTEFDFNIDPKPSEGPGTKYLKSNSRSQQNRHSFMESSQSKAGTLQPNEKQSRHSYIDTIPQSSRSPSYRTKAKSHGALSDSKSVSNLSEARAQIAEPSTSRYFPSSCLDLNSPTSPTPTRHSDTRTLLSPSGRNNRNEGTLDSRRTTTRHSK | ||||||
Compositional bias | 431-551 | Polar residues | ||||
Sequence: TKYLKSNSRSQQNRHSFMESSQSKAGTLQPNEKQSRHSYIDTIPQSSRSPSYRTKAKSHGALSDSKSVSNLSEARAQIAEPSTSRYFPSSCLDLNSPTSPTPTRHSDTRTLLSPSGRNNRN | ||||||
Compositional bias | 552-566 | Basic and acidic residues | ||||
Sequence: EGTLDSRRTTTRHSK | ||||||
Region | 646-834 | Disordered | ||||
Sequence: SPQPGEQLPPEMTVARSSVKETSREGTSSFHTRQKSEGGVYHDPHSDDGTAPKENRHLYNDPVPRRVGSFYRVPSPRPDNSFHENNVSTRVSSLPSESSSGTNHSKRQPAFDPWKSPENISHSEQLKEKEKQGFFRSMKKKKKKSQTVPNSDSPDLLTLQKSIHSASTPSSRPKEWRPEKISDLQTQSQ | ||||||
Compositional bias | 671-706 | Basic and acidic residues | ||||
Sequence: GTSSFHTRQKSEGGVYHDPHSDDGTAPKENRHLYND | ||||||
Compositional bias | 724-754 | Polar residues | ||||
Sequence: DNSFHENNVSTRVSSLPSESSSGTNHSKRQP | ||||||
Compositional bias | 766-780 | Basic and acidic residues | ||||
Sequence: SHSEQLKEKEKQGFF | ||||||
Compositional bias | 794-817 | Polar residues | ||||
Sequence: PNSDSPDLLTLQKSIHSASTPSSR | ||||||
Compositional bias | 848-890 | Polar residues | ||||
Sequence: ASNHPASSDPRFQPLTAQQTKNSFSEIRIHPLSQASGGSSNIR | ||||||
Region | 848-960 | Disordered | ||||
Sequence: ASNHPASSDPRFQPLTAQQTKNSFSEIRIHPLSQASGGSSNIRQEPAPKGRPALQLPGQMDPGWHVSSVTRSATEGPSYSEQLGAKSGPNGHPYNRTNRSRMPNLNDLKETAL | ||||||
Compositional bias | 912-952 | Polar residues | ||||
Sequence: HVSSVTRSATEGPSYSEQLGAKSGPNGHPYNRTNRSRMPNL |
Sequence similarities
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
O76039-2
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
- Length960
- Mass (Da)107,519
- Last updated2020-10-07 v2
- Checksum6E955E0B40DBC1B8
O76039-1
- Name2
- Differences from canonical
- 905-960: GQMDPGWHVSSVTRSATEGPSYSEQLGAKSGPNGHPYNRTNRSRMPNLNDLKETAL → DGGCDGRRQRHHSGPQDRRFMLRTTEQQGEYFCCGDPKKPHTPCVPNRALHRPISSPAPYPVLQVRGTSMCPTLQVRGTDAFSCPTQQSGFSFFVRHVMREALIHRAQVNQAALLTYHENAALTGK
Computationally mapped potential isoform sequences
There are 7 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0A096LNR9 | A0A096LNR9_HUMAN | CDKL5 | 784 | ||
A0A096LPG3 | A0A096LPG3_HUMAN | CDKL5 | 60 | ||
A0A096LP32 | A0A096LP32_HUMAN | CDKL5 | 68 | ||
A0A096LPI4 | A0A096LPI4_HUMAN | CDKL5 | 17 | ||
A0A1B0GUM4 | A0A1B0GUM4_HUMAN | CDKL5 | 881 | ||
A0A1B0GTX4 | A0A1B0GTX4_HUMAN | CDKL5 | 471 | ||
A0A669KBC2 | A0A669KBC2_HUMAN | CDKL5 | 1001 |
Sequence caution
Features
Showing features for compositional bias, sequence conflict, alternative sequence.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Compositional bias | 317-349 | Polar residues | ||||
Sequence: HVESSTLSNRNQAGKSTALQSHHRSNSKDIQNL | ||||||
Sequence conflict | 339-340 | in Ref. 5; CAA61445 | ||||
Sequence: HR → GT | ||||||
Compositional bias | 382-406 | Polar residues | ||||
Sequence: KTYQASSQPGSTSKDLTNNNIPHLL | ||||||
Compositional bias | 431-551 | Polar residues | ||||
Sequence: TKYLKSNSRSQQNRHSFMESSQSKAGTLQPNEKQSRHSYIDTIPQSSRSPSYRTKAKSHGALSDSKSVSNLSEARAQIAEPSTSRYFPSSCLDLNSPTSPTPTRHSDTRTLLSPSGRNNRN | ||||||
Sequence conflict | 541 | in Ref. 5; CAA61445 | ||||
Sequence: L → W | ||||||
Compositional bias | 552-566 | Basic and acidic residues | ||||
Sequence: EGTLDSRRTTTRHSK | ||||||
Compositional bias | 671-706 | Basic and acidic residues | ||||
Sequence: GTSSFHTRQKSEGGVYHDPHSDDGTAPKENRHLYND | ||||||
Compositional bias | 724-754 | Polar residues | ||||
Sequence: DNSFHENNVSTRVSSLPSESSSGTNHSKRQP | ||||||
Sequence conflict | 731-764 | in Ref. 5; CAA61445 | ||||
Sequence: Missing | ||||||
Compositional bias | 766-780 | Basic and acidic residues | ||||
Sequence: SHSEQLKEKEKQGFF | ||||||
Compositional bias | 794-817 | Polar residues | ||||
Sequence: PNSDSPDLLTLQKSIHSASTPSSR | ||||||
Compositional bias | 848-890 | Polar residues | ||||
Sequence: ASNHPASSDPRFQPLTAQQTKNSFSEIRIHPLSQASGGSSNIR | ||||||
Alternative sequence | VSP_060755 | 905-960 | in isoform 2 | |||
Sequence: GQMDPGWHVSSVTRSATEGPSYSEQLGAKSGPNGHPYNRTNRSRMPNLNDLKETAL → DGGCDGRRQRHHSGPQDRRFMLRTTEQQGEYFCCGDPKKPHTPCVPNRALHRPISSPAPYPVLQVRGTSMCPTLQVRGTDAFSCPTQQSGFSFFVRHVMREALIHRAQVNQAALLTYHENAALTGK | ||||||
Compositional bias | 912-952 | Polar residues | ||||
Sequence: HVSSVTRSATEGPSYSEQLGAKSGPNGHPYNRTNRSRMPNL |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
Y15057 EMBL· GenBank· DDBJ | CAA75342.1 EMBL· GenBank· DDBJ | mRNA | ||
AY217744 EMBL· GenBank· DDBJ | AAO64440.1 EMBL· GenBank· DDBJ | mRNA | ||
HQ171445 EMBL· GenBank· DDBJ | ADN38258.1 EMBL· GenBank· DDBJ | mRNA | ||
Z92542 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AL109798 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
X89059 EMBL· GenBank· DDBJ | CAA61445.1 EMBL· GenBank· DDBJ | mRNA | Frameshift |