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Q68DE3

- K2018_HUMAN

UniProt

Q68DE3 - K2018_HUMAN

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Protein

Basic helix-loop-helix domain-containing protein KIAA2018

Gene

KIAA2018

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  1. calcium ion binding Source: InterPro
  2. DNA binding Source: UniProtKB-KW
  3. mannosyl-oligosaccharide 1,2-alpha-mannosidase activity Source: InterPro
Complete GO annotation...

Keywords - Ligandi

DNA-binding

Protein family/group databases

CAZyiGH47. Glycoside Hydrolase Family 47.

Names & Taxonomyi

Protein namesi
Recommended name:
Basic helix-loop-helix domain-containing protein KIAA2018
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:30494. KIAA2018.

Subcellular locationi

Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  1. membrane Source: InterPro
  2. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142671594.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 22452245Basic helix-loop-helix domain-containing protein KIAA2018PRO_0000295754Add
BLAST

Proteomic databases

PaxDbiQ68DE3.
PRIDEiQ68DE3.

PTM databases

PhosphoSiteiQ68DE3.

Expressioni

Gene expression databases

BgeeiQ68DE3.
CleanExiHS_KIAA2018.
ExpressionAtlasiQ68DE3. baseline and differential.
GenevestigatoriQ68DE3.

Organism-specific databases

HPAiHPA029243.
HPA029245.

Interactioni

Protein-protein interaction databases

BioGridi128499. 1 interaction.
IntActiQ68DE3. 3 interactions.
STRINGi9606.ENSP00000320794.

Structurei

3D structure databases

ProteinModelPortaliQ68DE3.
SMRiQ68DE3. Positions 19-72.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini18 – 6952bHLHPROSITE-ProRule annotationAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili77 – 11236Sequence AnalysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi850 – 89950Ser-richAdd
BLAST
Compositional biasi1415 – 1609195Gln-richAdd
BLAST

Sequence similaritiesi

Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG12793.
HOGENOMiHOG000060234.
HOVERGENiHBG108052.
InParanoidiQ68DE3.
OMAiHQQRTLQ.
OrthoDBiEOG7KDF8X.
PhylomeDBiQ68DE3.
TreeFamiTF332661.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
IPR001382. Glyco_hydro_47.
[Graphical view]
PANTHERiPTHR11742. PTHR11742. 1 hit.
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q68DE3-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MPEMTENETP TKKQHRKKNR ETHNAVERHR KKKINAGINR IGELIPCSPA
60 70 80 90 100
LKQSKNMILD QAFKYITELK RQNDELLLNG GNNEQAEEIK KLRKQLEEIQ
110 120 130 140 150
KENGRYIELL KANDICLYDD PTIHWKGNLK NSKVSVVIPS DQVQKKIIVY
160 170 180 190 200
SNGNQPGGNS QGTAVQGITF NVSHNLQKQT ANVVPVQRTC NLVTPVSISG
210 220 230 240 250
VYPSENKPWH QTTVPALATN QPVPLCLPAA ISAQSILELP TSESESNVLG
260 270 280 290 300
ATSGSLIAVS IESEPHQHHS LHTCLNDQNS SENKNGQENP KVLKKMTPCV
310 320 330 340 350
TNIPHSSSAT ATKVHHGNKS CLSIQDFRGD FQNTFVVSVT TTVCSQPPRT
360 370 380 390 400
AGDSSPMSIS KSADLTSTAT VVASSAPGVG KATIPISTLS GNPLDNGWTL
410 420 430 440 450
SCSLPSSSVS TSDLKNINSL TRISSAGNTQ TTWTTLQLAG NTIQPLSQTP
460 470 480 490 500
SSAVTPVLNE SGTSPTTSNH SRYVATDINL NNSFPADGQP VEQVVVTLPS
510 520 530 540 550
CPSLPMQPLI AQPQVKSQPP KNILPLNSAM QVIQMAQPVG SAVNSAPTNQ
560 570 580 590 600
NVIILQPPST TPCPTVMRAE VSNQTVGQQI VIIQAANQNP LPLLPAPPPG
610 620 630 640 650
SVRLPINGAN TVIGSNNSVQ NVPTPQTFGG KHLVHILPRP SSLSASNSTQ
660 670 680 690 700
TFSVTMSNQQ PQTISLNGQL FALQPVMSSS GTTNQTPMQI IQPTTSEDPN
710 720 730 740 750
TNVALNTFGA LASLNQSISQ MAGQSCVQLS ISQPANSQTA ANSQTTTANC
760 770 780 790 800
VSLTTTAAPP VTTDSSATLA STYNLVSTSS MNTVACLPNM KSKRLNKKPG
810 820 830 840 850
GRKHLAANKS ACPLNSVRDV SKLDCPNTEG SAEPPCNDGL LESFPAVLPS
860 870 880 890 900
VSVSQANSVS VSASHSLGVL SSESLIPESV SKSKSAEKSS PPSQESVTSE
910 920 930 940 950
HFAMAAAKSK DSTPNLQQET SQDKPPSSLA LSDAAKPCAS ANVLIPSPSD
960 970 980 990 1000
PHILVSQVPG LSSTTSTTST DCVSEVEIIA EPCRVEQDSS DTMQTTGLLK
1010 1020 1030 1040 1050
GQGLTTLLSD LAKKKNPQKS SLSDQMDHPD FSSENPKIVD SSVNLHPKQE
1060 1070 1080 1090 1100
LLLMNNDDRD PPQHHSCLPD QEVINGSLIN GRQADSPMST SSGSSRSFSV
1110 1120 1130 1140 1150
ASMLPETTRE DVTSNATTNT CDSCTFVEQT DIVALAARAI FDQENLEKGR
1160 1170 1180 1190 1200
VGLQADIREV ASKPSEASLL EGDPPFKSQI PKESGTGQAE ATPNEFNSQG
1210 1220 1230 1240 1250
SIEATMERPL EKPSCSLGIK TSNASLQDST SQPPSITSLS VNNLIHQSSI
1260 1270 1280 1290 1300
SHPLASCAGL SPTSEQTTVP ATVNLTVSSS SYGSQPPGPS LMTEYSQEQL
1310 1320 1330 1340 1350
NTMTSTIPNS QIQEPLLKPS HESRKDSAKR AVQDDLLLSS AKRQKHCQPA
1360 1370 1380 1390 1400
PLRLESMSLM SRTPDTISDQ TQMMVSQIPP NSSNSVVPVS NPAHGDGLTR
1410 1420 1430 1440 1450
LFPPSNNFVT PALRQTEVQC GSQPSVAEQQ QTQASQHLQA LQQHVPAQGV
1460 1470 1480 1490 1500
SHLHSNHLYI KQQQQQQQQQ QQQQQQQQAG QLRERHHLYQ MQHHVPHAES
1510 1520 1530 1540 1550
SVHSQPHNVH QQRTLQQEVQ MQKKRNLVQG TQTSQLSLQP KHHGTDQSRS
1560 1570 1580 1590 1600
KTGQPHPHHQ QMQQQMQQHF GSSQTEKSCE NPSTSRNHHN HPQNHLNQDI
1610 1620 1630 1640 1650
MHQQQDVGSR QQGSGVSSEH VSGHNPMQRL LTSRGLEQQM VSQPSIVTRS
1660 1670 1680 1690 1700
SDMTCTPHRP ERNRVSSYSA EALIGKTSSN SEQRMGISIQ GSRVSDQLEM
1710 1720 1730 1740 1750
RSYLDVPRNK SLAIHNMQGR VDHTVASDIR LSDCQTFKPS GASQQPQSNF
1760 1770 1780 1790 1800
EVQSSRNNEI GNPVSSLRSM QSQAFRISQN TGPPPIDRQK RLSYPPVQSI
1810 1820 1830 1840 1850
PTGNGIPSRD SENTCHQSFM QSLLAPHLSD QVIGSQRSLS EHQRNTQCGP
1860 1870 1880 1890 1900
SSAIEYNCPP THENVHIRRE SESQNRESCD MSLGAINTRN STLNIPFSSS
1910 1920 1930 1940 1950
SSSGDIQGRN TSPNVSVQKS NPMRITESHA TKGHMNPPVT TNMHGVARPA
1960 1970 1980 1990 2000
LPHPSVSHGN GDQGPAVRQA NSSVPQRSRH PLQDSSGSKI RQPERNRSGN
2010 2020 2030 2040 2050
QRQSTVFDPS LPHLPLSTGG SMILGRQQPA TEKRGSIVRF MPDSPQVPND
2060 2070 2080 2090 2100
NSGPDQHTLS QNFGFSFIPE GGMNPPINAN ASFIPQVTQP SATRTPALIP
2110 2120 2130 2140 2150
VDPQNTLPSF YPPYSPAHPT LSNDISIPYF PNQMFSNPST EKVNSGSLNN
2160 2170 2180 2190 2200
RFGSILSPPR PVGFAQPSFP LLPDMPPMHM TNSHLSNFNM TSLFPEIATV
2210 2220 2230 2240
LPDGSAMSPL LTIANSSASD SSKQSSNRPA HNISHILGHD CSSAV
Length:2,245
Mass (Da):241,681
Last modified:June 15, 2010 - v3
Checksum:iD37A5B5FF04E68B0
GO

Sequence cautioni

The sequence BAB14518.1 differs from that shown. Reason: Chimeric cDNA.Curated
The sequence CAH18277.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti328 – 3281R → G in CAH18277. (PubMed:17974005)Curated
Sequence conflicti862 – 8621S → P in CAH18277. (PubMed:17974005)Curated
Sequence conflicti1462 – 14643Missing in CAH18277. (PubMed:17974005)Curated
Sequence conflicti1462 – 14621Missing in BAC23114. 1 PublicationCurated
Sequence conflicti1953 – 19531H → R in CAD97821. (PubMed:17974005)Curated
Sequence conflicti2015 – 20151P → S in BAB14518. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti222 – 2221P → A.1 Publication
Corresponds to variant rs9866806 [ dbSNP | Ensembl ].
VAR_033363
Natural varianti907 – 9071A → E.
Corresponds to variant rs9852318 [ dbSNP | Ensembl ].
VAR_055949
Natural varianti943 – 9431V → G.
Corresponds to variant rs6770105 [ dbSNP | Ensembl ].
VAR_055950
Natural varianti1966 – 19661A → V.
Corresponds to variant rs2290477 [ dbSNP | Ensembl ].
VAR_033364
Natural varianti2200 – 22001V → A.2 Publications
Corresponds to variant rs930818 [ dbSNP | Ensembl ].
VAR_063263

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS43133.1.
UniGeneiHs.632570.

Genome annotation databases

EnsembliENST00000316407; ENSP00000320794; ENSG00000176542.
ENST00000478658; ENSP00000420721; ENSG00000176542.
UCSCiuc003eal.3. human.

Polymorphism databases

DMDMi298286912.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSi CCDS43133.1.
UniGenei Hs.632570.

3D structure databases

ProteinModelPortali Q68DE3.
SMRi Q68DE3. Positions 19-72.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 128499. 1 interaction.
IntActi Q68DE3. 3 interactions.
STRINGi 9606.ENSP00000320794.

Protein family/group databases

CAZyi GH47. Glycoside Hydrolase Family 47.

PTM databases

PhosphoSitei Q68DE3.

Polymorphism databases

DMDMi 298286912.

Proteomic databases

PaxDbi Q68DE3.
PRIDEi Q68DE3.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000316407 ; ENSP00000320794 ; ENSG00000176542 .
ENST00000478658 ; ENSP00000420721 ; ENSG00000176542 .
UCSCi uc003eal.3. human.

Organism-specific databases

GeneCardsi GC03M113367.
HGNCi HGNC:30494. KIAA2018.
HPAi HPA029243.
HPA029245.
neXtProti NX_Q68DE3.
PharmGKBi PA142671594.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG12793.
HOGENOMi HOG000060234.
HOVERGENi HBG108052.
InParanoidi Q68DE3.
OMAi HQQRTLQ.
OrthoDBi EOG7KDF8X.
PhylomeDBi Q68DE3.
TreeFami TF332661.

Miscellaneous databases

ChiTaRSi KIAA2018. human.
GenomeRNAii 205717.
NextBioi 90518.

Gene expression databases

Bgeei Q68DE3.
CleanExi HS_KIAA2018.
ExpressionAtlasi Q68DE3. baseline and differential.
Genevestigatori Q68DE3.

Family and domain databases

Gene3Di 4.10.280.10. 1 hit.
InterProi IPR011598. bHLH_dom.
IPR001382. Glyco_hydro_47.
[Graphical view ]
PANTHERi PTHR11742. PTHR11742. 1 hit.
Pfami PF00010. HLH. 1 hit.
[Graphical view ]
SMARTi SM00353. HLH. 1 hit.
[Graphical view ]
SUPFAMi SSF47459. SSF47459. 1 hit.
PROSITEi PS50888. BHLH. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  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. 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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.

Entry informationi

Entry nameiK2018_HUMAN
AccessioniPrimary (citable) accession number: Q68DE3
Secondary accession number(s): Q7Z3L9, Q8IVF3, Q9H8T4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 24, 2007
Last sequence update: June 15, 2010
Last modified: October 29, 2014
This is version 81 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3