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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. DNA binding Source: UniProtKB-KW
  2. calcium ion binding Source: InterPro
  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 Reviewed prediction

GO - Cellular componenti

  1. membrane Source: InterPro
  2. nucleus Source: UniProtKB-SubCell
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 KIAA2018
PRO_0000295754Add
BLAST

Proteomic databases

PaxDbiQ68DE3.
PRIDEiQ68DE3.

PTM databases

PhosphoSiteiQ68DE3.

Expressioni

Gene expression databases

ArrayExpressiQ68DE3.
BgeeiQ68DE3.
CleanExiHS_KIAA2018.
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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini18 – 6952bHLH
Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili77 – 11236 Reviewed prediction
Add
BLAST

Compositional bias

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

Sequence similaritiesi

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

MPEMTENETP TKKQHRKKNR ETHNAVERHR KKKINAGINR IGELIPCSPA     50
LKQSKNMILD QAFKYITELK RQNDELLLNG GNNEQAEEIK KLRKQLEEIQ 100
KENGRYIELL KANDICLYDD PTIHWKGNLK NSKVSVVIPS DQVQKKIIVY 150
SNGNQPGGNS QGTAVQGITF NVSHNLQKQT ANVVPVQRTC NLVTPVSISG 200
VYPSENKPWH QTTVPALATN QPVPLCLPAA ISAQSILELP TSESESNVLG 250
ATSGSLIAVS IESEPHQHHS LHTCLNDQNS SENKNGQENP KVLKKMTPCV 300
TNIPHSSSAT ATKVHHGNKS CLSIQDFRGD FQNTFVVSVT TTVCSQPPRT 350
AGDSSPMSIS KSADLTSTAT VVASSAPGVG KATIPISTLS GNPLDNGWTL 400
SCSLPSSSVS TSDLKNINSL TRISSAGNTQ TTWTTLQLAG NTIQPLSQTP 450
SSAVTPVLNE SGTSPTTSNH SRYVATDINL NNSFPADGQP VEQVVVTLPS 500
CPSLPMQPLI AQPQVKSQPP KNILPLNSAM QVIQMAQPVG SAVNSAPTNQ 550
NVIILQPPST TPCPTVMRAE VSNQTVGQQI VIIQAANQNP LPLLPAPPPG 600
SVRLPINGAN TVIGSNNSVQ NVPTPQTFGG KHLVHILPRP SSLSASNSTQ 650
TFSVTMSNQQ PQTISLNGQL FALQPVMSSS GTTNQTPMQI IQPTTSEDPN 700
TNVALNTFGA LASLNQSISQ MAGQSCVQLS ISQPANSQTA ANSQTTTANC 750
VSLTTTAAPP VTTDSSATLA STYNLVSTSS MNTVACLPNM KSKRLNKKPG 800
GRKHLAANKS ACPLNSVRDV SKLDCPNTEG SAEPPCNDGL LESFPAVLPS 850
VSVSQANSVS VSASHSLGVL SSESLIPESV SKSKSAEKSS PPSQESVTSE 900
HFAMAAAKSK DSTPNLQQET SQDKPPSSLA LSDAAKPCAS ANVLIPSPSD 950
PHILVSQVPG LSSTTSTTST DCVSEVEIIA EPCRVEQDSS DTMQTTGLLK 1000
GQGLTTLLSD LAKKKNPQKS SLSDQMDHPD FSSENPKIVD SSVNLHPKQE 1050
LLLMNNDDRD PPQHHSCLPD QEVINGSLIN GRQADSPMST SSGSSRSFSV 1100
ASMLPETTRE DVTSNATTNT CDSCTFVEQT DIVALAARAI FDQENLEKGR 1150
VGLQADIREV ASKPSEASLL EGDPPFKSQI PKESGTGQAE ATPNEFNSQG 1200
SIEATMERPL EKPSCSLGIK TSNASLQDST SQPPSITSLS VNNLIHQSSI 1250
SHPLASCAGL SPTSEQTTVP ATVNLTVSSS SYGSQPPGPS LMTEYSQEQL 1300
NTMTSTIPNS QIQEPLLKPS HESRKDSAKR AVQDDLLLSS AKRQKHCQPA 1350
PLRLESMSLM SRTPDTISDQ TQMMVSQIPP NSSNSVVPVS NPAHGDGLTR 1400
LFPPSNNFVT PALRQTEVQC GSQPSVAEQQ QTQASQHLQA LQQHVPAQGV 1450
SHLHSNHLYI KQQQQQQQQQ QQQQQQQQAG QLRERHHLYQ MQHHVPHAES 1500
SVHSQPHNVH QQRTLQQEVQ MQKKRNLVQG TQTSQLSLQP KHHGTDQSRS 1550
KTGQPHPHHQ QMQQQMQQHF GSSQTEKSCE NPSTSRNHHN HPQNHLNQDI 1600
MHQQQDVGSR QQGSGVSSEH VSGHNPMQRL LTSRGLEQQM VSQPSIVTRS 1650
SDMTCTPHRP ERNRVSSYSA EALIGKTSSN SEQRMGISIQ GSRVSDQLEM 1700
RSYLDVPRNK SLAIHNMQGR VDHTVASDIR LSDCQTFKPS GASQQPQSNF 1750
EVQSSRNNEI GNPVSSLRSM QSQAFRISQN TGPPPIDRQK RLSYPPVQSI 1800
PTGNGIPSRD SENTCHQSFM QSLLAPHLSD QVIGSQRSLS EHQRNTQCGP 1850
SSAIEYNCPP THENVHIRRE SESQNRESCD MSLGAINTRN STLNIPFSSS 1900
SSSGDIQGRN TSPNVSVQKS NPMRITESHA TKGHMNPPVT TNMHGVARPA 1950
LPHPSVSHGN GDQGPAVRQA NSSVPQRSRH PLQDSSGSKI RQPERNRSGN 2000
QRQSTVFDPS LPHLPLSTGG SMILGRQQPA TEKRGSIVRF MPDSPQVPND 2050
NSGPDQHTLS QNFGFSFIPE GGMNPPINAN ASFIPQVTQP SATRTPALIP 2100
VDPQNTLPSF YPPYSPAHPT LSNDISIPYF PNQMFSNPST EKVNSGSLNN 2150
RFGSILSPPR PVGFAQPSFP LLPDMPPMHM TNSHLSNFNM TSLFPEIATV 2200
LPDGSAMSPL LTIANSSASD SSKQSSNRPA HNISHILGHD CSSAV 2245
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.
The sequence CAH18277.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

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 conflict

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

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
KEGGihsa:205717.
UCSCiuc003eal.3. human.

Polymorphism databases

DMDMi298286912.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
KEGGi hsa:205717.
UCSCi uc003eal.3. human.

Organism-specific databases

CTDi 205717.
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

ArrayExpressi Q68DE3.
Bgeei Q68DE3.
CleanExi HS_KIAA2018.
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: September 3, 2014
This is version 79 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

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