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Q68DE3 (K2018_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 77. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Basic helix-loop-helix domain-containing protein KIAA2018
Gene names
Name:KIAA2018
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length2245 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subcellular location

Nucleus Potential.

Sequence similarities

Contains 1 bHLH (basic helix-loop-helix) domain.

Sequence caution

The sequence BAB14518.1 differs from that shown. Reason: Chimeric cDNA.

The sequence CAH18277.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
   Cellular componentNucleus
   Coding sequence diversityPolymorphism
   DomainCoiled coil
   LigandDNA-binding
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentmembrane

Inferred from electronic annotation. Source: InterPro

nucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionDNA binding

Inferred from electronic annotation. Source: UniProtKB-KW

calcium ion binding

Inferred from electronic annotation. Source: InterPro

mannosyl-oligosaccharide 1,2-alpha-mannosidase activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 22452245Basic helix-loop-helix domain-containing protein KIAA2018
PRO_0000295754

Regions

Domain18 – 6952bHLH
Coiled coil77 – 11236 Potential
Compositional bias850 – 89950Ser-rich
Compositional bias1415 – 1609195Gln-rich

Natural variations

Natural variant2221P → A. Ref.2
Corresponds to variant rs9866806 [ dbSNP | Ensembl ].
VAR_033363
Natural variant9071A → E.
Corresponds to variant rs9852318 [ dbSNP | Ensembl ].
VAR_055949
Natural variant9431V → G.
Corresponds to variant rs6770105 [ dbSNP | Ensembl ].
VAR_055950
Natural variant19661A → V.
Corresponds to variant rs2290477 [ dbSNP | Ensembl ].
VAR_033364
Natural variant22001V → A. Ref.2 Ref.3
Corresponds to variant rs930818 [ dbSNP | Ensembl ].
VAR_063263

Experimental info

Sequence conflict3281R → G in CAH18277. Ref.2
Sequence conflict8621S → P in CAH18277. Ref.2
Sequence conflict1462 – 14643Missing in CAH18277. Ref.2
Sequence conflict14621Missing in BAC23114. Ref.3
Sequence conflict19531H → R in CAD97821. Ref.2
Sequence conflict20151P → S in BAB14518. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Q68DE3 [UniParc].

Last modified June 15, 2010. Version 3.
Checksum: D37A5B5FF04E68B0

FASTA2,245241,681
        10         20         30         40         50         60 
MPEMTENETP TKKQHRKKNR ETHNAVERHR KKKINAGINR IGELIPCSPA LKQSKNMILD 

        70         80         90        100        110        120 
QAFKYITELK RQNDELLLNG GNNEQAEEIK KLRKQLEEIQ KENGRYIELL KANDICLYDD 

       130        140        150        160        170        180 
PTIHWKGNLK NSKVSVVIPS DQVQKKIIVY SNGNQPGGNS QGTAVQGITF NVSHNLQKQT 

       190        200        210        220        230        240 
ANVVPVQRTC NLVTPVSISG VYPSENKPWH QTTVPALATN QPVPLCLPAA ISAQSILELP 

       250        260        270        280        290        300 
TSESESNVLG ATSGSLIAVS IESEPHQHHS LHTCLNDQNS SENKNGQENP KVLKKMTPCV 

       310        320        330        340        350        360 
TNIPHSSSAT ATKVHHGNKS CLSIQDFRGD FQNTFVVSVT TTVCSQPPRT AGDSSPMSIS 

       370        380        390        400        410        420 
KSADLTSTAT VVASSAPGVG KATIPISTLS GNPLDNGWTL SCSLPSSSVS TSDLKNINSL 

       430        440        450        460        470        480 
TRISSAGNTQ TTWTTLQLAG NTIQPLSQTP SSAVTPVLNE SGTSPTTSNH SRYVATDINL 

       490        500        510        520        530        540 
NNSFPADGQP VEQVVVTLPS CPSLPMQPLI AQPQVKSQPP KNILPLNSAM QVIQMAQPVG 

       550        560        570        580        590        600 
SAVNSAPTNQ NVIILQPPST TPCPTVMRAE VSNQTVGQQI VIIQAANQNP LPLLPAPPPG 

       610        620        630        640        650        660 
SVRLPINGAN TVIGSNNSVQ NVPTPQTFGG KHLVHILPRP SSLSASNSTQ TFSVTMSNQQ 

       670        680        690        700        710        720 
PQTISLNGQL FALQPVMSSS GTTNQTPMQI IQPTTSEDPN TNVALNTFGA LASLNQSISQ 

       730        740        750        760        770        780 
MAGQSCVQLS ISQPANSQTA ANSQTTTANC VSLTTTAAPP VTTDSSATLA STYNLVSTSS 

       790        800        810        820        830        840 
MNTVACLPNM KSKRLNKKPG GRKHLAANKS ACPLNSVRDV SKLDCPNTEG SAEPPCNDGL 

       850        860        870        880        890        900 
LESFPAVLPS VSVSQANSVS VSASHSLGVL SSESLIPESV SKSKSAEKSS PPSQESVTSE 

       910        920        930        940        950        960 
HFAMAAAKSK DSTPNLQQET SQDKPPSSLA LSDAAKPCAS ANVLIPSPSD PHILVSQVPG 

       970        980        990       1000       1010       1020 
LSSTTSTTST DCVSEVEIIA EPCRVEQDSS DTMQTTGLLK GQGLTTLLSD LAKKKNPQKS 

      1030       1040       1050       1060       1070       1080 
SLSDQMDHPD FSSENPKIVD SSVNLHPKQE LLLMNNDDRD PPQHHSCLPD QEVINGSLIN 

      1090       1100       1110       1120       1130       1140 
GRQADSPMST SSGSSRSFSV ASMLPETTRE DVTSNATTNT CDSCTFVEQT DIVALAARAI 

      1150       1160       1170       1180       1190       1200 
FDQENLEKGR VGLQADIREV ASKPSEASLL EGDPPFKSQI PKESGTGQAE ATPNEFNSQG 

      1210       1220       1230       1240       1250       1260 
SIEATMERPL EKPSCSLGIK TSNASLQDST SQPPSITSLS VNNLIHQSSI SHPLASCAGL 

      1270       1280       1290       1300       1310       1320 
SPTSEQTTVP ATVNLTVSSS SYGSQPPGPS LMTEYSQEQL NTMTSTIPNS QIQEPLLKPS 

      1330       1340       1350       1360       1370       1380 
HESRKDSAKR AVQDDLLLSS AKRQKHCQPA PLRLESMSLM SRTPDTISDQ TQMMVSQIPP 

      1390       1400       1410       1420       1430       1440 
NSSNSVVPVS NPAHGDGLTR LFPPSNNFVT PALRQTEVQC GSQPSVAEQQ QTQASQHLQA 

      1450       1460       1470       1480       1490       1500 
LQQHVPAQGV SHLHSNHLYI KQQQQQQQQQ QQQQQQQQAG QLRERHHLYQ MQHHVPHAES 

      1510       1520       1530       1540       1550       1560 
SVHSQPHNVH QQRTLQQEVQ MQKKRNLVQG TQTSQLSLQP KHHGTDQSRS KTGQPHPHHQ 

      1570       1580       1590       1600       1610       1620 
QMQQQMQQHF GSSQTEKSCE NPSTSRNHHN HPQNHLNQDI MHQQQDVGSR QQGSGVSSEH 

      1630       1640       1650       1660       1670       1680 
VSGHNPMQRL LTSRGLEQQM VSQPSIVTRS SDMTCTPHRP ERNRVSSYSA EALIGKTSSN 

      1690       1700       1710       1720       1730       1740 
SEQRMGISIQ GSRVSDQLEM RSYLDVPRNK SLAIHNMQGR VDHTVASDIR LSDCQTFKPS 

      1750       1760       1770       1780       1790       1800 
GASQQPQSNF EVQSSRNNEI GNPVSSLRSM QSQAFRISQN TGPPPIDRQK RLSYPPVQSI 

      1810       1820       1830       1840       1850       1860 
PTGNGIPSRD SENTCHQSFM QSLLAPHLSD QVIGSQRSLS EHQRNTQCGP SSAIEYNCPP 

      1870       1880       1890       1900       1910       1920 
THENVHIRRE SESQNRESCD MSLGAINTRN STLNIPFSSS SSSGDIQGRN TSPNVSVQKS 

      1930       1940       1950       1960       1970       1980 
NPMRITESHA TKGHMNPPVT TNMHGVARPA LPHPSVSHGN GDQGPAVRQA NSSVPQRSRH 

      1990       2000       2010       2020       2030       2040 
PLQDSSGSKI RQPERNRSGN QRQSTVFDPS LPHLPLSTGG SMILGRQQPA TEKRGSIVRF 

      2050       2060       2070       2080       2090       2100 
MPDSPQVPND NSGPDQHTLS QNFGFSFIPE GGMNPPINAN ASFIPQVTQP SATRTPALIP 

      2110       2120       2130       2140       2150       2160 
VDPQNTLPSF YPPYSPAHPT LSNDISIPYF PNQMFSNPST EKVNSGSLNN RFGSILSPPR 

      2170       2180       2190       2200       2210       2220 
PVGFAQPSFP LLPDMPPMHM TNSHLSNFNM TSLFPEIATV LPDGSAMSPL LTIANSSASD 

      2230       2240 
SSKQSSNRPA HNISHILGHD CSSAV 

« Hide

References

[1]"The DNA sequence, annotation and analysis of human chromosome 3."
Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. expand/collapse author list , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 26-2245, VARIANTS ALA-222 AND ALA-2200.
Tissue: Retina.
[3]"The nucleotide sequence of a long cDNA clone isolated from human."
Nagase T., Kikuno R., Ohara O.
Submitted (NOV-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 560-2245, VARIANT ALA-2200.
Tissue: Brain.
[4]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1766-2085.
Tissue: Ovary.
[5]"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] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AC055740 Genomic DNA. No translation available.
BX537728 mRNA. Translation: CAD97821.1.
CR749439 mRNA. Translation: CAH18277.1. Different initiation.
AB095938 mRNA. Translation: BAC23114.1.
AK023308 mRNA. Translation: BAB14518.1. Sequence problems.
RefSeqNP_001009899.2. NM_001009899.2.
UniGeneHs.632570.

3D structure databases

ProteinModelPortalQ68DE3.
SMRQ68DE3. Positions 14-100.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid128499. 1 interaction.
IntActQ68DE3. 3 interactions.
STRING9606.ENSP00000320794.

Protein family/group databases

CAZyGH47. Glycoside Hydrolase Family 47.

PTM databases

PhosphoSiteQ68DE3.

Polymorphism databases

DMDM298286912.

Proteomic databases

PaxDbQ68DE3.
PRIDEQ68DE3.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000316407; ENSP00000320794; ENSG00000176542.
ENST00000478658; ENSP00000420721; ENSG00000176542.
GeneID205717.
KEGGhsa:205717.
UCSCuc003eal.3. human.

Organism-specific databases

CTD205717.
GeneCardsGC03M113367.
HGNCHGNC:30494. KIAA2018.
HPAHPA029243.
HPA029245.
neXtProtNX_Q68DE3.
PharmGKBPA142671594.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG12793.
HOGENOMHOG000060234.
HOVERGENHBG108052.
InParanoidQ68DE3.
OMAHQQRTLQ.
OrthoDBEOG7KDF8X.
PhylomeDBQ68DE3.
TreeFamTF332661.

Gene expression databases

ArrayExpressQ68DE3.
BgeeQ68DE3.
CleanExHS_KIAA2018.
GenevestigatorQ68DE3.

Family and domain databases

Gene3D4.10.280.10. 1 hit.
InterProIPR011598. bHLH_dom.
IPR001382. Glyco_hydro_47.
[Graphical view]
PANTHERPTHR11742. PTHR11742. 1 hit.
PfamPF00010. HLH. 1 hit.
[Graphical view]
SMARTSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMSSF47459. SSF47459. 1 hit.
PROSITEPS50888. BHLH. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSKIAA2018. human.
GenomeRNAi205717.
NextBio90518.

Entry information

Entry nameK2018_HUMAN
AccessionPrimary (citable) accession number: Q68DE3
Secondary accession number(s): Q7Z3L9, Q8IVF3, Q9H8T4
Entry history
Integrated into UniProtKB/Swiss-Prot: July 24, 2007
Last sequence update: June 15, 2010
Last modified: April 16, 2014
This is version 77 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM