Q68DE3 (K2018_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Basic helix-loop-helix domain-containing protein KIAA2018

Gene names

Name:

KIAA2018

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	2245 AA.
Sequence status	Complete.
Protein existence	Evidence 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 component	Nucleus
Coding sequence diversity	Polymorphism
Domain	Coiled coil
Ligand	DNA-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	membrane Inferred from electronic annotation. Source: InterPro nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	DNA 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 2245	2245	Basic helix-loop-helix domain-containing protein KIAA2018		PRO_0000295754
Regions
	Domain	18 – 69	52	bHLH
	Coiled coil	77 – 112	36	Potential
	Compositional bias	850 – 899	50	Ser-rich
	Compositional bias	1415 – 1609	195	Gln-rich
Natural variations
	Natural variant	222	1	P → A. Ref.2 Corresponds to variant rs9866806 [ dbSNP | Ensembl ].		VAR_033363
	Natural variant	907	1	A → E. Corresponds to variant rs9852318 [ dbSNP | Ensembl ].		VAR_055949
	Natural variant	943	1	V → G. Corresponds to variant rs6770105 [ dbSNP | Ensembl ].		VAR_055950
	Natural variant	1966	1	A → V. Corresponds to variant rs2290477 [ dbSNP | Ensembl ].		VAR_033364
	Natural variant	2200	1	V → A. Ref.2 Ref.3 Corresponds to variant rs930818 [ dbSNP | Ensembl ].		VAR_063263
Experimental info
	Sequence conflict	328	1	R → G in CAH18277. Ref.2
	Sequence conflict	862	1	S → P in CAH18277. Ref.2
	Sequence conflict	1462 – 1464	3	Missing in CAH18277. Ref.2
	Sequence conflict	1462	1	Missing in BAC23114. Ref.3
	Sequence conflict	1953	1	H → R in CAD97821. Ref.2
	Sequence conflict	2015	1	P → S in BAB14518. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Q68DE3 [UniParc]. Last modified June 15, 2010. Version 3. Checksum: D37A5B5FF04E68B0	FASTA	2,245	241,681
	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

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. , 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. , 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.
IPI	IPI00217002.
RefSeq	NP_001009899.2. NM_001009899.2.
UniGene	Hs.632570.
3D structure databases
ProteinModelPortal	Q68DE3.
SMR	Q68DE3. Positions 23-76.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q68DE3. 3 interactions.
STRING	9606.ENSP00000320794.
Protein family/group databases
CAZy	GH47. Glycoside Hydrolase Family 47.
PTM databases
PhosphoSite	Q68DE3.
Proteomic databases
PaxDb	Q68DE3.
PRIDE	Q68DE3.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000316407; ENSP00000320794; ENSG00000176542. ENST00000478658; ENSP00000420721; ENSG00000176542.
GeneID	205717.
KEGG	hsa:205717.
UCSC	uc003eal.3. human.
Organism-specific databases
CTD	205717.
GeneCards	GC03M113367.
HGNC	HGNC:30494. KIAA2018.
HPA	HPA029243. HPA029245.
neXtProt	NX_Q68DE3.
PharmGKB	PA142671594.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG12793.
HOGENOM	HOG000060234.
HOVERGEN	HBG108052.
InParanoid	Q68DE3.
OMA	MNPPINA.
OrthoDB	EOG4TMR14.
Gene expression databases
ArrayExpress	Q68DE3.
Bgee	Q68DE3.
CleanEx	HS_KIAA2018.
Genevestigator	Q68DE3.
Family and domain databases
Gene3D	4.10.280.10. 1 hit.
InterPro	IPR011598. bHLH_dom. IPR001382. Glyco_hydro_47. [Graphical view]
PANTHER	PTHR11742. PTHR11742. 1 hit.
Pfam	PF00010. HLH. 1 hit. [Graphical view]
SMART	SM00353. HLH. 1 hit. [Graphical view]
SUPFAM	SSF47459. HLH_basic. 1 hit.
PROSITE	PS50888. BHLH. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	KIAA2018. human.
GenomeRNAi	205717.
NextBio	90518.

Entry information

Entry name

K2018_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 71 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.