Q8TD31 · CCHCR_HUMAN
- ProteinCoiled-coil alpha-helical rod protein 1
- GeneCCHCR1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids782 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
May be a regulator of keratinocyte proliferation or differentiation.
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 | centriole | |
Cellular Component | cytosol | |
Cellular Component | nucleus | |
Molecular Function | identical protein binding | |
Biological Process | cell differentiation | |
Biological Process | protein export from nucleus |
Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameCoiled-coil alpha-helical rod protein 1
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ8TD31
- Secondary accessions
Proteomes
Organism-specific databases
Disease & Variants
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_017761 | 102 | in dbSNP:rs130075 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_017762 | 103 | in allele HCR*WWCC; risk factor for psoriasis; dbSNP:rs130065 | |||
Sequence: R → W | ||||||
Natural variant | VAR_017763 | 109 | in allele HCR*WWCC; risk factor for psoriasis; dbSNP:rs130076 | |||
Sequence: R → W | ||||||
Natural variant | VAR_017764 | 164 | in dbSNP:rs130066 | |||
Sequence: S → R | ||||||
Natural variant | VAR_017782 | 179 | in dbSNP:rs11540822 | |||
Sequence: L → Q | ||||||
Natural variant | VAR_017765 | 275 | in dbSNP:rs130067 | |||
Sequence: E → D | ||||||
Natural variant | VAR_017783 | 367 | in dbSNP:rs2027937 | |||
Sequence: A → T | ||||||
Natural variant | VAR_017767 | 417 | in dbSNP:rs130069 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_017766 | 417 | in dbSNP:rs130068 | |||
Sequence: R → W | ||||||
Natural variant | VAR_017768 | 546 | in dbSNP:rs2073720 | |||
Sequence: K → R | ||||||
Natural variant | VAR_017769 | 575 | in allele HCR*WWCC; risk factor for psoriasis; dbSNP:rs130079 | |||
Sequence: G → C | ||||||
Natural variant | VAR_017770 | 627 | in dbSNP:rs130072 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_017771 | 639 | in dbSNP:rs130074 | |||
Sequence: Q → H | ||||||
Natural variant | VAR_017784 | 733 | in dbSNP:rs140560656 | |||
Sequence: A → V | ||||||
Natural variant | VAR_017772 | 776 | in allele HCR*WWCC; risk factor for psoriasis; dbSNP:rs1576 | |||
Sequence: S → C |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 1,406 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_0000089416 | 1-782 | Coiled-coil alpha-helical rod protein 1 | |||
Sequence: MFPPSGSTGLIPPSHFQARPLSTLPRMAPTWLSDIPLVQPPGHQDVSERRLDTQRPQVTMWERDVSSDRQEPGRRGRSWGLEGSQALSQQAEVIVRQLQELRRLEEEVRLLRETSLQQKMRLEAQAMELEALARAEKAGRAEAEGLRAALAGAEVVRKNLEEGSQRELEEVQRLHQEQLSSLTQAHEEALSSLTSKAEGLEKSLSSLETRRAGEAKELAEAQREAELLRKQLSKTQEDLEAQVTLVENLRKYVGEQVPSEVHSQTWELERQKLLETMQHLQEDRDSLHATAELLQVRVQSLTHILALQEEELTRKVQPSDSLEPEFTRKCQSLLNRWREKVFALMVQLKAQELEHSDSVKQLKGQVASLQEKVTSQSQEQAILQRSLQDKAAEVEVERMGAKGLQLELSRAQEARRRWQQQTASAEEQLRLVVNAVSSSQIWLETTMAKVEGAAAQLPSLNNRLSYAVRKVHTIRGLIARKLALAQLRQESCPLPPPVTDVSLELQQLREERNRLDAELQLSARLIQQEVGRAREQGEAERQQLSKVAQQLEQELQQTQESLASLGLQLEVARQGQQESTEEAASLRQELTQQQELYGQALQEKVAEVETRLREQLSDTERRLNEARREHAKAVVSLRQIQRRAAQEKERSQELRRLQEEARKEEGQRLARRLQELERDKNLMLATLQQEGLLSRYKQQRLLTVLPSLLDKKKSVVSSPRPPECSASAPVAAAVPTRESIKGSLSVLLDDLQDLSEAISKEEAVCQGDNLDRCSSSNPQMSS |
Proteomic databases
PTM databases
Expression
Tissue specificity
Found in all tissues tested, abundantly expressed in heart, liver, skeletal muscle, kidney and pancreas, and to a lesser extent in lung and placenta. Overexpressed in keratinocytes of psoriatic lesions.
Gene expression databases
Organism-specific databases
Interaction
Binary interactions
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for compositional bias, region, coiled coil.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Compositional bias | 62-76 | Basic and acidic residues | ||||
Sequence: ERDVSSDRQEPGRRG | ||||||
Region | 62-82 | Disordered | ||||
Sequence: ERDVSSDRQEPGRRGRSWGLE | ||||||
Coiled coil | 111-303 | |||||
Sequence: LRETSLQQKMRLEAQAMELEALARAEKAGRAEAEGLRAALAGAEVVRKNLEEGSQRELEEVQRLHQEQLSSLTQAHEEALSSLTSKAEGLEKSLSSLETRRAGEAKELAEAQREAELLRKQLSKTQEDLEAQVTLVENLRKYVGEQVPSEVHSQTWELERQKLLETMQHLQEDRDSLHATAELLQVRVQSLTH | ||||||
Compositional bias | 177-202 | Polar residues | ||||
Sequence: EQLSSLTQAHEEALSSLTSKAEGLEK | ||||||
Region | 177-218 | Disordered | ||||
Sequence: EQLSSLTQAHEEALSSLTSKAEGLEKSLSSLETRRAGEAKEL | ||||||
Compositional bias | 203-218 | Basic and acidic residues | ||||
Sequence: SLSSLETRRAGEAKEL | ||||||
Coiled coil | 344-437 | |||||
Sequence: LMVQLKAQELEHSDSVKQLKGQVASLQEKVTSQSQEQAILQRSLQDKAAEVEVERMGAKGLQLELSRAQEARRRWQQQTASAEEQLRLVVNAVS | ||||||
Coiled coil | 498-691 | |||||
Sequence: VTDVSLELQQLREERNRLDAELQLSARLIQQEVGRAREQGEAERQQLSKVAQQLEQELQQTQESLASLGLQLEVARQGQQESTEEAASLRQELTQQQELYGQALQEKVAEVETRLREQLSDTERRLNEARREHAKAVVSLRQIQRRAAQEKERSQELRRLQEEARKEEGQRLARRLQELERDKNLMLATLQQEG |
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 3 isoforms produced by Alternative splicing.
Q8TD31-1
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
- Length782
- Mass (Da)88,671
- Last updated2004-02-16 v2
- Checksum0E7DE742DB57B29E
Q8TD31-2
- Name2
- Differences from canonical
- 1-1: M → MWPHSAGARPWASTLTGKDPRVMACWCLDGLPSGLAEPWRELWRWRSRPLHCVPPFSPLARSSRDHRNLRRRGNIDGWRQNLEPSNNVEM
Q8TD31-3
- Name3
- Differences from canonical
- 1-41: MFPPSGSTGLIPPSHFQARPLSTLPRMAPTWLSDIPLVQPP → MWPHSAGARPWASTLTGKDPRVMACWCLDGLPSGLAEPWRELWRWRSRPLHCVPPFSPLARSSRDHRNLRRRGNIDGWRQNLEPSNNVEMFPPS
Computationally mapped potential isoform sequences
There are 37 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A2ABH1 | A2ABH1_HUMAN | CCHCR1 | 729 | ||
A2ABH3 | A2ABH3_HUMAN | CCHCR1 | 188 | ||
A2ABH4 | A2ABH4_HUMAN | CCHCR1 | 152 | ||
A2ABH5 | A2ABH5_HUMAN | CCHCR1 | 216 | ||
B0V092 | B0V092_HUMAN | CCHCR1 | 118 | ||
E7EPK4 | E7EPK4_HUMAN | CCHCR1 | 191 | ||
E7EQC5 | E7EQC5_HUMAN | CCHCR1 | 140 | ||
E7EQE8 | E7EQE8_HUMAN | CCHCR1 | 139 | ||
B0S7V6 | B0S7V6_HUMAN | CCHCR1 | 782 | ||
D6RBG1 | D6RBG1_HUMAN | CCHCR1 | 41 | ||
D6RB88 | D6RB88_HUMAN | CCHCR1 | 96 | ||
D6RAE7 | D6RAE7_HUMAN | CCHCR1 | 126 | ||
D6RE89 | D6RE89_HUMAN | CCHCR1 | 44 | ||
D6RDI7 | D6RDI7_HUMAN | CCHCR1 | 115 | ||
D6RD84 | D6RD84_HUMAN | CCHCR1 | 36 | ||
D6RA02 | D6RA02_HUMAN | CCHCR1 | 80 | ||
D6R9W9 | D6R9W9_HUMAN | CCHCR1 | 80 | ||
Q5STF0 | Q5STF0_HUMAN | CCHCR1 | 126 | ||
A0A0G2JP87 | A0A0G2JP87_HUMAN | CCHCR1 | 870 | ||
A0A140T9J5 | A0A140T9J5_HUMAN | CCHCR1 | 316 | ||
A0A0G2JPU2 | A0A0G2JPU2_HUMAN | CCHCR1 | 870 | ||
E9PHV1 | E9PHV1_HUMAN | CCHCR1 | 159 | ||
A0A494C023 | A0A494C023_HUMAN | CCHCR1 | 379 | ||
E9PGB6 | E9PGB6_HUMAN | CCHCR1 | 158 | ||
A0A494C0D7 | A0A494C0D7_HUMAN | CCHCR1 | 365 | ||
A0A0G2JJZ1 | A0A0G2JJZ1_HUMAN | CCHCR1 | 188 | ||
A0A0G2JII5 | A0A0G2JII5_HUMAN | CCHCR1 | 729 | ||
A0A0G2JHL3 | A0A0G2JHL3_HUMAN | CCHCR1 | 256 | ||
A0A0G2JHL6 | A0A0G2JHL6_HUMAN | CCHCR1 | 256 | ||
A0A0G2JHN4 | A0A0G2JHN4_HUMAN | CCHCR1 | 316 | ||
A0A0G2JI86 | A0A0G2JI86_HUMAN | CCHCR1 | 118 | ||
A0A0G2JI40 | A0A0G2JI40_HUMAN | CCHCR1 | 171 | ||
A0A0G2JJK2 | A0A0G2JJK2_HUMAN | CCHCR1 | 316 | ||
A0A0G2JJK7 | A0A0G2JJK7_HUMAN | CCHCR1 | 152 | ||
A0A0G2JIL2 | A0A0G2JIL2_HUMAN | CCHCR1 | 171 | ||
A0A0G2JJ47 | A0A0G2JJ47_HUMAN | CCHCR1 | 729 | ||
A0A0G2JIT9 | A0A0G2JIT9_HUMAN | CCHCR1 | 188 |
Sequence caution
Features
Showing features for alternative sequence, sequence conflict, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_038062 | 1 | in isoform 2 | |||
Sequence: M → MWPHSAGARPWASTLTGKDPRVMACWCLDGLPSGLAEPWRELWRWRSRPLHCVPPFSPLARSSRDHRNLRRRGNIDGWRQNLEPSNNVEM | ||||||
Alternative sequence | VSP_047069 | 1-41 | in isoform 3 | |||
Sequence: MFPPSGSTGLIPPSHFQARPLSTLPRMAPTWLSDIPLVQPP → MWPHSAGARPWASTLTGKDPRVMACWCLDGLPSGLAEPWRELWRWRSRPLHCVPPFSPLARSSRDHRNLRRRGNIDGWRQNLEPSNNVEMFPPS | ||||||
Sequence conflict | 20 | in Ref. 7; BAA81890 | ||||
Sequence: P → A | ||||||
Sequence conflict | 43 | in Ref. 4; BAA91007 | ||||
Sequence: H → Y | ||||||
Compositional bias | 62-76 | Basic and acidic residues | ||||
Sequence: ERDVSSDRQEPGRRG | ||||||
Compositional bias | 177-202 | Polar residues | ||||
Sequence: EQLSSLTQAHEEALSSLTSKAEGLEK | ||||||
Compositional bias | 203-218 | Basic and acidic residues | ||||
Sequence: SLSSLETRRAGEAKEL | ||||||
Sequence conflict | 395 | in Ref. 4; BAA91236 | ||||
Sequence: E → G | ||||||
Sequence conflict | 472 | in Ref. 4; BAA91007 | ||||
Sequence: H → L | ||||||
Sequence conflict | 498 | in Ref. 4; BAA91007 | ||||
Sequence: V → A | ||||||
Sequence conflict | 667 | in Ref. 4; BAA91236 | ||||
Sequence: Q → L |
Polymorphism
HCR*WWCC is associated with susceptibility to psoriasis. Psoriasis is a chronic inflammatory dermatosis that affects approximately 2% of the population. It is a multifactorial disease characterized by red, scaly skin lesions that are usually found on the scalp, elbows, and knees, and may be associated with severe arthritis. The lesions are caused by hyperproliferative keratinocytes and infiltration of inflammatory cells into the dermis and epidermis. The usual age of onset of psoriasis is between 15 and 30 years, although it can present at any age. Association of HCR with psoriasis seem to be due to linkage disequilibrium with Cw*06:02 (PubMed:11348465).
HCR is unlikely to be directly involved in psoriasis development
HCR is unlikely to be directly involved in psoriasis development
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AY029160 EMBL· GenBank· DDBJ | AAK55759.1 EMBL· GenBank· DDBJ | mRNA | ||
BA000025 EMBL· GenBank· DDBJ | BAB63313.1 EMBL· GenBank· DDBJ | Genomic DNA | Sequence problems. | |
AB088104 EMBL· GenBank· DDBJ | BAC54937.1 EMBL· GenBank· DDBJ | Genomic DNA | Sequence problems. | |
AK000204 EMBL· GenBank· DDBJ | BAA91007.1 EMBL· GenBank· DDBJ | mRNA | ||
AK000217 EMBL· GenBank· DDBJ | BAA91016.1 EMBL· GenBank· DDBJ | mRNA | ||
AK000533 EMBL· GenBank· DDBJ | BAA91236.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AL662833 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AL662844 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AL773544 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CR753819 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC110535 EMBL· GenBank· DDBJ | AAI10536.1 EMBL· GenBank· DDBJ | mRNA | Sequence problems. | |
AB029331 EMBL· GenBank· DDBJ | BAA81890.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AB029343 EMBL· GenBank· DDBJ | BAA82158.1 EMBL· GenBank· DDBJ | Genomic DNA | Sequence problems. | |
AF216493 EMBL· GenBank· DDBJ | AAF74221.1 EMBL· GenBank· DDBJ | mRNA | Different initiation |