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Reviewed, UniProtKB/Swiss-Prot Q8IUD2 (RB6I2_HUMAN)

Last modified June 16, 2009. Version 69. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    ELKS/RAB6-interacting/CAST family member 1
      Short name=ERC protein 1
Alternative name(s):
    RAB6-interacting protein 2
Gene names
Name: ERC1
Synonyms: ELKS, KIAA1081, RAB6IP2
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1116 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence 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.

Binary interactions

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 11161116ELKS/RAB6-interacting/CAST family member 1
PRO_0000097176

Regions

Coiled coil144 – 988845 Potential
Coiled coil1060 – 110041 Potential

Sites

Site719 – 7202Breakpoint for translocation to form ERC1-RET oncogene

Amino acid modifications

Modified residue171Phosphoserine Ref.10 Ref.11
Modified residue211Phosphoserine Ref.10 Ref.11
Modified residue1911Phosphoserine Ref.11
Modified residue2521Phosphoserine By similarity
Modified residue10461Phosphothreonine Ref.11

Natural variations

Alternative sequence224 – 523300Missing in isoform 5.
VSP_011450
Alternative sequence440 – 46728Missing in isoform 2, isoform 3 and isoform 4.
VSP_011451
Alternative sequence7831E → ESLTS in isoform 2, isoform 4 and isoform 5.
VSP_011452
Alternative sequence830 – 87344Missing in isoform 4.
VSP_011453
Alternative sequence1009 – 10168IIQPLLEL → DEEEGIWA in isoform 2, isoform 4 and isoform 5.
VSP_011454
Alternative sequence1017 – 1116100Missing in isoform 2, isoform 4 and isoform 5.
VSP_011455
Natural variant501S → G: dbSNP rs35037408.
VAR_051304
Natural variant10321T → A: dbSNP rs12319376.
VAR_051305

Experimental info

Sequence conflict8281L → G in BAA90975. Ref.7
Sequence conflict8921K → R in BAC03827. Ref.7
Sequence conflict9101T → I in BAC03827. Ref.7
Sequence conflict10211S → G in BAA90975. Ref.7

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (ELKS epsilon) [UniParc].

Last modified March 1, 2003. Version 1.
Checksum: CCB70380AA7C6E69

FASTA1,116128,086
        10         20         30         40         50         60 
MYGSARSVGK VEPSSQSPGR SPRLPRSPRL GHRRTNSTGG SSGSSVGGGS GKTLSMENIQ 

        70         80         90        100        110        120 
SLNAAYATSG PMYLSDHENV GSETPKSTMT LGRSGGRLPY GVRMTAMGSS PNIASSGVAS 

       130        140        150        160        170        180 
DTIAFGEHHL PPVSMASTVP HSLRQARDNT IMDLQTQLKE VLRENDLLRK DVEVKESKLS 

       190        200        210        220        230        240 
SSMNSIKTFW SPELKKERAL RKDEASKITI WKEQYRVVQE ENQHMQMTIQ ALQDELRIQR 

       250        260        270        280        290        300 
DLNQLFQQDS SSRTGEPCVA ELTEENFQRL HAEHERQAKE LFLLRKTLEE MELRIETQKQ 

       310        320        330        340        350        360 
TLNARDESIK KLLEMLQSKG LSAKATEEDH ERTRRLAEAE MHVHHLESLL EQKEKENSML 

       370        380        390        400        410        420 
REEMHRRFEN APDSAKTKAL QTVIEMKDSK ISSMERGLRD LEEEIQMLKS NGALSTEERE 

       430        440        450        460        470        480 
EEMKQMEVYR SHSKFMKNKV EQLKEELSSK EAQWEELKKK AAGLQAEIGQ VKQELSRKDT 

       490        500        510        520        530        540 
ELLALQTKLE TLTNQFSDSK QHIEVLKESL TAKEQRAAIL QTEVDALRLR LEEKETMLNK 

       550        560        570        580        590        600 
KTKQIQDMAE EKGTQAGEIH DLKDMLDVKE RKVNVLQKKI ENLQEQLRDK EKQMSSLKER 

       610        620        630        640        650        660 
VKSLQADTTN TDTALTTLEE ALAEKERTIE RLKEQRDRDE REKQEEIDNY KKDLKDLKEK 

       670        680        690        700        710        720 
VSLLQGDLSE KEASLLDLKE HASSLASSGL KKDSRLKTLE IALEQKKEEC LKMESQLKKA 

       730        740        750        760        770        780 
HEAALEARAS PEMSDRIQHL EREITRYKDE SSKAQAEVDR LLEILKEVEN EKNDKDKKIA 

       790        800        810        820        830        840 
ELERQVKDQN KKVANLKHKE QVEKKKSAQM LEEARRREDN LNDSSQQLQD SLRKKDDRIE 

       850        860        870        880        890        900 
ELEEALRESV QITAEREMVL AQEESARTNA EKQVEELLMA MEKVKQELES MKAKLSSTQQ 

       910        920        930        940        950        960 
SLAEKETHLT NLRAERRKHL EEVLEMKQEA LLAAISEKDA NIALLELSSS KKKTQEEVAA 

       970        980        990       1000       1010       1020 
LKREKDRLVQ QLKQQTQNRM KLMADNYEDD HFKSSHSNQT NHKPSPDQII QPLLELDQNR 

      1030       1040       1050       1060       1070       1080 
SKLKLYIGHL TTLCHDRDPL ILRGLTPPAS YNLDDDQAAW ENELQKMTRG QLQDELEKGE 

      1090       1100       1110 
RDNAELQEFA NAILQQIADH CPDILEQVVN ALEESS 

« Hide

Isoform 2 (ELKS beta).

Checksum: 049A5831DC5F79B4
Show »

FASTA992113,920
Isoform 3 (ELKS delta).

Checksum: 52AF9DDF5720A2CB
Show »

FASTA1,088124,904
Isoform 4 (ELKS alpha).

Checksum: 344297FDFC9F7602
Show »

FASTA948108,793
Isoform 5 (ELKS gamma).

Checksum: 1CD24193AFA919A5
Show »

FASTA72081,967

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. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., 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.
IPIIPI00171230.
IPI00181684.
IPI00216719.
IPI00216720.
IPI00374976.
RefSeqNP_055879.1.
NP_829881.1.
NP_829882.1.
NP_829883.1.
NP_829884.1.
UniGeneHs.658200

3D structure databases

HSSPHSSP built from PDB template 1FOS based on UniProtKB P01100.
ModBaseSearch...

Protein-protein interaction databases

IntActQ8IUD2. 2 interactions.

PTM databases

PhosphoSiteQ8IUD2.

Proteomic databases

PRIDEQ8IUD2.

Genome annotation databases

EnsemblENSG00000082805. Homo sapiens. [Contig view]
GeneID23085.
KEGGhsa:23085.

Organism-specific databases

GeneCardsGC12P000972.
H-InvDBHIX0010314.
HGNCHGNC:17072. ERC1.
MIM188550. phenotype.
607127. gene.
Orphanet146. Thyroid carcinoma, papillary or follicular.
PharmGKBPA29242.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

HOVERGENQ8IUD2.
OMAQ8IUD2. MKDSKIS.

Enzyme and pathway databases

Pathway_Interaction_DBnfkappabcanonicalpathway. Canonical NF-kappaB pathway.
il1pathway. IL1-mediated signaling events.

Gene expression databases

ArrayExpressQ8IUD2.
BgeeQ8IUD2.
GermOnlineENSG00000082805. Homo sapiens.

Family and domain databases

InterProIPR019323. CAZ_cplx_RIM-bd_prot.
IPR019018. Rab11-bd_FIP_dom_C.
[Graphical view]
PfamPF10174. Cast. 1 hit.
PF09457. RBD-FIP. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio44213.
SOURCESearch...

Entry information

Entry nameRB6I2_HUMAN
AccessionPrimary (citable) accession number: Q8IUD2
Secondary accession number(s): A7E295 expand/collapse secondary AC list , Q6NVK2, Q8IUD3, Q8IUD4, Q8IUD5, Q8NAS1, Q9NXN5, Q9UIK7, Q9UPS1
Entry history
Integrated into UniProtKB/Swiss-Prot: August 31, 2004
Last sequence update: March 1, 2003
Last modified: June 16, 2009
This is version 69 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (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

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents