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Q68DE3

- K2018_HUMAN

UniProt

Q68DE3 - K2018_HUMAN

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
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    • History
      Entry version 80 (01 Oct 2014)
      Sequence version 3 (15 Jun 2010)
      Previous versions | rss
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    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

    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-SubCell

    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

    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.
    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

    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.

    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:
    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

    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: October 1, 2014
    This is version 80 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