Reviewed,
UniProtKB/Swiss-Prot Q8IUD2 (RB6I2_HUMAN)
Last modified
June 16, 2009.
Version 69.
History...
Clusters with 100%,
90%,
50% identity |
Documents (4) |
Third-party data |
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Names and origin
| Protein names | Recommended name: ELKS/RAB6-interacting/CAST family member 1 Short name=ERC protein 1 Alternative name(s): RAB6-interacting protein 2 | ||||
| Gene names |
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| 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 | 1116 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Regulatory subunit of the IKK complex. Probably recruits IkappaBalpha/NFKBIA to the complex. May be involved in the organization of the cytomatrix at the nerve terminals active zone (CAZ) which regulates neurotransmitter release. May be involved in vesicle trafficking at the CAZ. May be involved in Rab-6 regulated endosomes to Golgi transport. Ref.8 |
| Subunit structure | Part of a complex with CHUK, IKBKB and IKBKG. Interacts with CHUK, IKBKB and IKBKG. The interaction with IKBKG is independent of CHUK and IKBKB. Interacts with NFKBIA. Isoform 4 interacts with PPFIA1, and through its C-terminus with the PDZ domains of RIMS1 and RIMS2. Interacts with ERC2/CAST1. Interacts with the GTB-bound forms of RAB6A isoform 1 and isoform 2 and with RAB6B. The interaction was strongest with RAB6B, followed by RAB6A isoform 2 and weakest with RAB6A isoform 1 By similarity. |
| Subcellular location | Cytoplasm By similarity. Membrane; Peripheral membrane protein By similarity. Golgi apparatus membrane; Peripheral membrane protein By similarity. Note: In neurons, localized closed to presynaptic membrane. Recruited on Golgi membranes by RAB6A in a GTP-dependent manner By similarity. |
| Tissue specificity | Widely expressed. Isoform 2 and isoform 4 are abundantly expressed in brain. Isoform 1 and isoform 3 are predominantly expressed in testis and thyroid, and isoform 1 predominates in other tissues tested. Ref.2 |
| Involvement in disease | A chromosomal aberration involving ERC1/RAB6IP2 may be a cause of thyroid papillary carcinoma (PACT) [MIM:188550]. Translocation t(10;12)(q11;p13) involving RET. In vitro, isoform 1, isoform 3 and isoform 5 participating in a ERC1-RET fusion protein activate tyrosine-protein kinase activity. |
| Sequence caution | The sequence AAH68006.1 differs from that shown. Reason: Miscellaneous discrepancy. Contaminating sequence. Potential poly-A sequence. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| TWF2 | Q6IBS0 | 1 | EBI-1044755,EBI-722204 | |
| YWHAG | P61981 | 1 | EBI-1044755,EBI-359832 |
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8IUD2-1) Also known as: ELKS epsilon; 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: Q8IUD2-2) Also known as: ELKS beta; The sequence of this isoform differs from the canonical sequence as follows: 440-467: Missing. 783-783: E → ESLTS 1009-1016: IIQPLLEL → DEEEGIWA 1017-1116: Missing. | ||||||
| Isoform 3 (identifier: Q8IUD2-3) Also known as: ELKS delta; The sequence of this isoform differs from the canonical sequence as follows: 440-467: Missing. | ||||||
| Isoform 4 (identifier: Q8IUD2-4) Also known as: ELKS alpha; The sequence of this isoform differs from the canonical sequence as follows: 440-467: Missing. 783-783: E → ESLTS 830-873: Missing. 1009-1016: IIQPLLEL → DEEEGIWA 1017-1116: Missing. | ||||||
| Isoform 5 (identifier: Q8IUD2-5) Also known as: ELKS gamma; The sequence of this isoform differs from the canonical sequence as follows: 224-523: Missing. 783-783: E → ESLTS 1009-1016: IIQPLLEL → DEEEGIWA 1017-1116: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1116 | 1116 | ELKS/RAB6-interacting/CAST family member 1 | PRO_0000097176 | |||||
Regions | |||||||||
| Coiled coil | 144 – 988 | 845 | Potential | ||||||
| Coiled coil | 1060 – 1100 | 41 | Potential | ||||||
Sites | |||||||||
| Site | 719 – 720 | 2 | Breakpoint for translocation to form ERC1-RET oncogene | ||||||
Amino acid modifications | |||||||||
| Modified residue | 17 | 1 | Phosphoserine Ref.10 Ref.11 | ||||||
| Modified residue | 21 | 1 | Phosphoserine Ref.10 Ref.11 | ||||||
| Modified residue | 191 | 1 | Phosphoserine Ref.11 | ||||||
| Modified residue | 252 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1046 | 1 | Phosphothreonine Ref.11 | ||||||
Natural variations | |||||||||
| Alternative sequence | 224 – 523 | 300 | Missing in isoform 5. | VSP_011450 | |||||
| Alternative sequence | 440 – 467 | 28 | Missing in isoform 2, isoform 3 and isoform 4. | VSP_011451 | |||||
| Alternative sequence | 783 | 1 | E → ESLTS in isoform 2, isoform 4 and isoform 5. | VSP_011452 | |||||
| Alternative sequence | 830 – 873 | 44 | Missing in isoform 4. | VSP_011453 | |||||
| Alternative sequence | 1009 – 1016 | 8 | IIQPLLEL → DEEEGIWA in isoform 2, isoform 4 and isoform 5. | VSP_011454 | |||||
| Alternative sequence | 1017 – 1116 | 100 | Missing in isoform 2, isoform 4 and isoform 5. | VSP_011455 | |||||
| Natural variant | 50 | 1 | S → G: dbSNP rs35037408. | VAR_051304 | |||||
| Natural variant | 1032 | 1 | T → A: dbSNP rs12319376. | VAR_051305 | |||||
Experimental info | |||||||||
| Sequence conflict | 828 | 1 | L → G in BAA90975. Ref.7 | ||||||
| Sequence conflict | 892 | 1 | K → R in BAC03827. Ref.7 | ||||||
| Sequence conflict | 910 | 1 | T → I in BAC03827. Ref.7 | ||||||
| Sequence conflict | 1021 | 1 | S → G in BAA90975. Ref.7 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Fusion of a novel gene, ELKS, to RET due to translocation t(10;12)(q11;p13) in a papillary thyroid carcinoma." Nakata T., Kitamura Y., Shimizu K., Tanaka S., Fujimori M., Yokoyama S., Ito K., Emi M. Genes Chromosomes Cancer 25:97-103(1999) [PubMed: 10337992] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), CHROMOSOMAL TRANSLOCATION WITH RET. |
| [2] | "Differential expression of multiple isoforms of the ELKS mRNAs involved in a papillary thyroid carcinoma." Nakata T., Yokota T., Emi M., Minami S. Genes Chromosomes Cancer 35:30-37(2002) [PubMed: 12203787] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 5), TISSUE SPECIFICITY. |
| [3] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-652 (ISOFORM 3). Tissue: Eye. |
| [4] | "Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Kikuno R., Nagase T., Ishikawa K., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 6:197-205(1999) [PubMed: 10470851] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-1061 (ISOFORM 2). Tissue: Brain. |
| [5] | "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones." Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T. DNA Res. 9:99-106(2002) [PubMed: 12168954] [Abstract] Cited for: SEQUENCE REVISION. |
| [6] | Lubec G., Chen W.-Q., Sun Y. Submitted (DEC-2008) to UniProtKB Cited for: PROTEIN SEQUENCE OF 254-269, MASS SPECTROMETRY. Tissue: Fetal brain cortex. |
| [7] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 733-1116 (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 828-1116 (ISOFORMS 1/3). Tissue: Colon. |
| [8] | "Activation of transcription factor NF-kappaB requires ELKS, an IkappaB kinase regulatory subunit." Ducut Sigala J.L., Bottero V., Young D.B., Shevchenko A., Mercurio F., Verma I.M. Science 304:1963-1967(2004) [PubMed: 15218148] [Abstract] Cited for: FUNCTION, INTERACTION WITH CHUK; IKBKB; IKBKG AND NFKBIA. |
| [9] | "Interaction of the ERC family of RIM-binding proteins with the liprin-alpha family of multidomain proteins." Ko J., Na M., Kim S., Lee J.R., Kim E. J. Biol. Chem. 278:42377-42385(2003) [PubMed: 12923177] [Abstract] Cited for: INTERACTION WITH PPFIA1. |
| [10] | "A probability-based approach for high-throughput protein phosphorylation analysis and site localization." Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P. Nat. Biotechnol. 24:1285-1292(2006) [PubMed: 16964243] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-17 AND SER-21, MASS SPECTROMETRY. Tissue: Epithelium. |
| [11] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-17; SER-21; SER-191 AND THR-1046, MASS SPECTROMETRY. |
| [12] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| AB015617 mRNA. Translation: BAA88763.1. AB053469 mRNA. Translation: BAC54108.1. AB053468 mRNA. Translation: BAC54107.1. AB053470 mRNA. Translation: BAC54109.1. AB053471 mRNA. Translation: BAC54110.1. BC068006 mRNA. Translation: AAH68006.1. Sequence problems. BC150248 mRNA. Translation: AAI50249.1. AB029004 mRNA. Translation: BAA83033.2. Different initiation. AK000148 mRNA. Translation: BAA90975.1. Different initiation. AK092201 mRNA. Translation: BAC03827.1. | |
| IPI | IPI00171230. IPI00181684. IPI00216719. IPI00216720. IPI00374976. |
| RefSeq | NP_055879.1. NP_829881.1. NP_829882.1. NP_829883.1. NP_829884.1. |
| UniGene | Hs.658200 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1FOS based on UniProtKB P01100. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q8IUD2. 2 interactions. |
PTM databases | |
| PhosphoSite | Q8IUD2. |
Proteomic databases | |
| PRIDE | Q8IUD2. |
Genome annotation databases | |
| Ensembl | ENSG00000082805. Homo sapiens. [Contig view] |
| GeneID | 23085. |
| KEGG | hsa:23085. |
Organism-specific databases | |
| GeneCards | GC12P000972. |
| H-InvDB | HIX0010314. |
| HGNC | HGNC:17072. ERC1. |
| MIM | 188550. phenotype. 607127. gene. |
| Orphanet | 146. Thyroid carcinoma, papillary or follicular. |
| PharmGKB | PA29242. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | Q8IUD2. |
| OMA | Q8IUD2. MKDSKIS. |
Enzyme and pathway databases | |
| Pathway_Interaction_DB | nfkappabcanonicalpathway. Canonical NF-kappaB pathway. il1pathway. IL1-mediated signaling events. |
Gene expression databases | |
| ArrayExpress | Q8IUD2. |
| Bgee | Q8IUD2. |
| GermOnline | ENSG00000082805. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR019323. CAZ_cplx_RIM-bd_prot. IPR019018. Rab11-bd_FIP_dom_C. [Graphical view] |
| Pfam | PF10174. Cast. 1 hit. PF09457. RBD-FIP. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 44213. |
| SOURCE | Search... |
Entry information
| Entry name | RB6I2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8IUD2 Secondary accession number(s): A7E295 Q9UPS1 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 12 Human chromosome 12: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |

Clusters with


