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UniProtKB/Swiss-Prot Q15154 (PCM1_HUMAN)
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November 25, 2008.
Version 52.
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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents
Names and origin
| Protein names | Recommended name: Pericentriolar material 1 protein Short name=PCM-1 Short name=hPCM-1 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 2024 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Required for centrosome assembly and function. Essential for the correct localization of several centrosomal proteins including CEP250, CETN3, PCNT and NEK2. Required to anchor microtubules to the centrosome. |
| Subunit structure | Self-associates By similarity. Interacts with BBS4, BBS8, CETN3, HAP1, NDE1 and NDEL1. |
| Subcellular location | Cytoplasm › cytoskeleton. Centrosome. Cytoplasmic granule. Note= Localizes to cytoplasmic granules which are enriched around the centrosome. This centrosomal enrichment requires microtubules and dynein. The majority of the protein dissociates from the centrosome during metaphase and subsequently localizes to the cleavage site in telophase. |
| Tissue specificity | Expressed in blood, bone marrow, breast, lymph node, ovary and thyroid. |
| Induction | Expression is reduced in breast and ovarian cancer. |
| Post-translational modification | Phosphorylated upon DNA damage, probably by ATM or ATR. |
| Involvement in disease | A chromosomal aberration involving PCM1 is found in thyroid papillary carcinoma (PACT) [MIM:188550]. Translocation t(8;10)(p21.3;q11.2) with RET links the protein kinase domain of RET to the major portion of PCM1. A chromosomal aberration involving PCM1 is found in a variety of hematological malignancies including atypical chronic myeloid leukemia (atypical CML) and T-cell lymphoma. Translocation t(8;9)(p22;p24) with JAK2 links the protein kinase domain of JAK2 to the major portion of PCM1. |
| Sequence similarities | Belongs to the PCM1 family. |
| Sequence caution | The sequence AAH27477.1 differs from that shown. Reason: Miscellaneous discrepancy. Contaminating sequence. Potential poly-A sequence. The sequence AAH65022.1 differs from that shown. Reason: Miscellaneous discrepancy. Contaminating sequence. Potential poly-A sequence. |
Ontologies
Keywords | |
|---|---|
| Cellular component | Cytoplasm Cytoskeleton |
| Coding sequence diversity | Alternative splicing Chromosomal rearrangement Polymorphism |
| Disease | Proto-oncogene |
| Domain | Coiled coil |
| PTM | Phosphoprotein |
Gene Ontology (GO) | |
| Biological process | centrosome organization Inferred from mutant phenotype. Source: UniProtKB cilium biogenesis Ref.8Inferred from mutant phenotype. Source: UniProtKB |
| Cellular component | centriolar satellite Inferred from direct assay. Source: UniProtKB pericentriolar material Ref.1Traceable author statement. Source: ProtInc |
| Molecular function | protein binding Ref.8 Ref.9 Inferred from physical interaction. Source: UniProtKB |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q15154-1) 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. | ||||||
| Isoform 2 (identifier: Q15154-2) The sequence of this isoform differs from the canonical sequence as follows: 1315-1370: RYESASMSSTCEPCKSRNRHSAQTEEPVQAKVFSRKNHEQLEKIIKCNRSTEISSE → K | ||||||
| Isoform 3 (identifier: Q15154-3) The sequence of this isoform differs from the canonical sequence as follows: 263-263: R → RENEEEDVRTIDSAVGSGSVAESTSLNIDVQSEASDTTAR 492-2024: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 2024 | 2024 | Pericentriolar material 1 protein | PRO_0000274037 | |||||
Regions | |||||||||
| Region | 1279 – 1799 | 521 | Interaction with HAP1 | ||||||
| Region | 1913 – 2024 | 112 | Interaction with BBS4 | ||||||
| Coiled coil | 218 – 301 | 84 | Potential | ||||||
| Coiled coil | 400 – 424 | 25 | Potential | ||||||
| Coiled coil | 487 – 543 | 57 | Potential | ||||||
| Coiled coil | 651 – 682 | 32 | Potential | ||||||
| Coiled coil | 726 – 769 | 44 | Potential | ||||||
| Coiled coil | 824 – 858 | 35 | Potential | ||||||
| Coiled coil | 1063 – 1089 | 27 | Potential | ||||||
| Coiled coil | 1515 – 1539 | 25 | Potential | ||||||
Sites | |||||||||
| Site | 1314 – 1315 | 2 | Breakpoint for translocation to form PCM1-JAK2 fusion protein | ||||||
| Site | 1369 – 1370 | 2 | Breakpoint for translocation to form PCM1-JAK2 fusion protein | ||||||
| Site | 1470 – 1471 | 2 | Breakpoint for translocation to form PCM1-JAK2 fusion protein | ||||||
| Site | 1609 – 1610 | 2 | Breakpoint for translocation to form PCM1-RET fusion protein | ||||||
| Site | 1947 – 1948 | 2 | Breakpoint for translocation to form PCM1-JAK2 fusion protein | ||||||
Amino acid modifications | |||||||||
| Modified residue | 65 | 1 | Phosphoserine | ||||||
| Modified residue | 68 | 1 | Phosphoserine | ||||||
| Modified residue | 69 | 1 | Phosphoserine | ||||||
| Modified residue | 93 | 1 | Phosphoserine | ||||||
| Modified residue | 110 | 1 | Phosphoserine | ||||||
| Modified residue | 356 | 1 | Phosphoserine | ||||||
| Modified residue | 431 | 1 | Phosphoserine | ||||||
| Modified residue | 861 | 1 | Phosphoserine | ||||||
| Modified residue | 866 | 1 | Phosphoserine | ||||||
| Modified residue | 869 | 1 | Phosphoserine | ||||||
| Modified residue | 872 | 1 | Phosphoserine | ||||||
| Modified residue | 877 | 1 | Phosphothreonine | ||||||
| Modified residue | 960 | 1 | Phosphoserine | ||||||
| Modified residue | 991 | 1 | Phosphoserine | ||||||
| Modified residue | 1231 | 1 | Phosphoserine | ||||||
| Modified residue | 1257 | 1 | Phosphoserine | ||||||
| Modified residue | 1260 | 1 | Phosphoserine | ||||||
| Modified residue | 1262 | 1 | Phosphoserine | ||||||
| Modified residue | 1730 | 1 | Phosphoserine | ||||||
| Modified residue | 1765 | 1 | Phosphoserine | ||||||
| Modified residue | 1768 | 1 | Phosphoserine | ||||||
| Modified residue | 1776 | 1 | Phosphoserine | ||||||
Natural variations | |||||||||
| Alternative sequence | 263 | 1 | R → RENEEEDVRTIDSAVGSGSV AESTSLNIDVQSEASDTTAR in isoform 3. | VSP_022609 | |||||
| Alternative sequence | 492 – 2024 | 1533 | Missing in isoform 3. | VSP_022610 | |||||
| Alternative sequence | 1315 – 1370 | 56 | RYESA…EISSE → K in isoform 2. | VSP_022611 | |||||
| Natural variant | 159 | 1 | S → N: dbSNP rs412750. | VAR_030164 | |||||
| Natural variant | 176 | 1 | A → D: dbSNP rs2285302. | VAR_030165 | |||||
| Natural variant | 597 | 1 | V → M: dbSNP rs208753. | VAR_030166 | |||||
| Natural variant | 600 | 1 | S → P: dbSNP rs34325017. | VAR_047381 | |||||
| Natural variant | 691 | 1 | A → S: dbSNP rs17635381. | VAR_030167 | |||||
| Natural variant | 871 | 1 | G → V: dbSNP rs7009117. | VAR_030168 | |||||
| Natural variant | 1251 | 1 | R → H: dbSNP rs17514547. | VAR_030169 | |||||
| Natural variant | 1326 | 1 | E → D: dbSNP rs34932823. | VAR_047382 | |||||
| Natural variant | 1543 | 1 | T → I: dbSNP rs370429. | VAR_030170 | |||||
| Natural variant | 1701 | 1 | K → N: dbSNP rs36113670. | VAR_047383 | |||||
| Natural variant | 1865 | 1 | N → D: dbSNP rs35789133. | VAR_047384 | |||||
Experimental info | |||||||||
| Sequence conflict | 294 | 1 | R → RG in AAA60120. Ref.1 | ||||||
| Sequence conflict | 311 – 312 | 2 | EQ → DE in AAA60120. Ref.1 | ||||||
| Sequence conflict | 405 | 1 | E → K in AAH27477. Ref.3 | ||||||
| Sequence conflict | 408 | 1 | Q → K in AAH27477 and AAH65022. Ref.3 | ||||||
| Sequence conflict | 430 | 1 | A → S in AAA60120. Ref.1 | ||||||
| Sequence conflict | 447 – 448 | 2 | SV → CL in AAA60120. Ref.1 | ||||||
| Sequence conflict | 760 | 1 | Q → H in AAA60120. Ref.1 | ||||||
| Sequence conflict | 946 | 1 | G → R in AAA60120. Ref.1 | ||||||
| Sequence conflict | 952 | 1 | R → T in AAA60120. Ref.1 | ||||||
| Sequence conflict | 1004 | 1 | Missing in AAA60120. Ref.1 | ||||||
| Sequence conflict | 1086 | 1 | Q → R in AAA60120. Ref.1 | ||||||
| Sequence conflict | 1168 | 1 | Q → R in AAA60120. Ref.1 | ||||||
| Sequence conflict | 1169 | 1 | N → I in AAA60120. Ref.1 | ||||||
| Sequence conflict | 1170 | 1 | S → L in AAA60120. Ref.1 | ||||||
| Sequence conflict | 1342 | 1 | V → L in AAA60120. Ref.1 | ||||||
| Sequence conflict | 1382 | 1 | R → Q in AAA60120. Ref.1 | ||||||
| Sequence conflict | 1532 | 1 | T → A in BAC03656. Ref.4 | ||||||
| Sequence conflict | 1849 | 1 | S → G in BAC03656. Ref.4 | ||||||
| Sequence conflict | 1853 – 1864 | 12 | PLERE…SKNDQ → HWNEKPLVKMTK in AAA60120. Ref.1 | ||||||
| Sequence conflict | 1872 | 1 | C → S in AAA60120. Ref.1 | ||||||
| Sequence conflict | 1988 | 1 | E → V in BAC03656. Ref.4 | ||||||
| Sequence conflict | 1998 | 1 | I → M in AAA60120. Ref.1 | ||||||
Sequences
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