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Q96AA8

- JKIP2_HUMAN

UniProt

Q96AA8 - JKIP2_HUMAN

Protein

Janus kinase and microtubule-interacting protein 2

Gene

JAKMIP2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 99 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. kinase activity Source: UniProtKB-KW

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Janus kinase and microtubule-interacting protein 2
    Alternative name(s):
    CTCL tumor antigen HD-CL-04
    Neuroendocrine long coiled-coil protein 1
    Gene namesi
    Name:JAKMIP2
    Synonyms:JAMIP2, KIAA0555, NECC1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:29067. JAKMIP2.

    Subcellular locationi

    Golgi apparatus 1 Publication

    GO - Cellular componenti

    1. Golgi apparatus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Golgi apparatus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA143485509.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 810810Janus kinase and microtubule-interacting protein 2PRO_0000050762Add
    BLAST

    Proteomic databases

    PaxDbiQ96AA8.
    PRIDEiQ96AA8.

    PTM databases

    PhosphoSiteiQ96AA8.

    Expressioni

    Tissue specificityi

    Highly expressed in brain, moderately expressed in thymus, spleen and lung, and weakly expressed in kidney, liver and peripheral blood lymphocytes. Also expressed in adrenal and pituitary glands, as well as testis.2 Publications

    Gene expression databases

    ArrayExpressiQ96AA8.
    BgeeiQ96AA8.
    CleanExiHS_JAKMIP2.
    GenevestigatoriQ96AA8.

    Organism-specific databases

    HPAiHPA046929.

    Interactioni

    Protein-protein interaction databases

    BioGridi115170. 1 interaction.
    IntActiQ96AA8. 1 interaction.
    MINTiMINT-1445731.
    STRINGi9606.ENSP00000265272.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96AA8.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili13 – 10290Sequence AnalysisAdd
    BLAST
    Coiled coili148 – 17831Sequence AnalysisAdd
    BLAST
    Coiled coili207 – 24438Sequence AnalysisAdd
    BLAST
    Coiled coili280 – 419140Sequence AnalysisAdd
    BLAST
    Coiled coili468 – 597130Sequence AnalysisAdd
    BLAST
    Coiled coili664 – 808145Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the JAKMIP family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG147883.
    HOGENOMiHOG000060161.
    HOVERGENiHBG054249.
    OMAiCLTKRND.
    PhylomeDBiQ96AA8.
    TreeFamiTF331900.

    Family and domain databases

    InterProiIPR024836. JAKMIP.
    [Graphical view]
    PANTHERiPTHR18935. PTHR18935. 1 hit.

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96AA8-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MSKKGRNKGE KPEALIVALQ AANEDLRTKL TDIQIELHQE KSKVSKLERE    50
    KTQEAKRIRE LEQRKHTVLV TELKAKLHEE KMKELQAVRE NLIKQHEQEM 100
    SRTVKVRDGE IQRLKSALCA LRDGSSDKVR TALTIEAREE ARKLFDTERL 150
    KLLQEIADLK TAKKQVDEAL SNMIQADKIK AGDLRSEHQS HQEAISKIKW 200
    ESERDIRRLM DEIKAKDRII FSLEKELETQ TGYVQKLQLQ KEALDEQLFL 250
    VKEAECNMSS PKREIPGRAG DGSEHCSSPD LRRNQKRIAE LNATIRKLED 300
    RNTLLGDERN ELLKRVRETE KQCKPLLERN KCLAKRNDEL MVSLQRMEEK 350
    LKAVTKENSE MREKITSHPP LKKLKSLNDL DQANEEQETE FLKLQVIEQQ 400
    NIIDELTRDR EKLIRRRKHR RSSKPIKRPV LDPFIGYDED SMDSETSSMA 450
    SFRTDRTPAT PDDDLDESLA AEESELRFRQ LTKEYQALQR AYALLQEQTG 500
    GIIDAEREAK AQEQLQAEVL RYKAKIEDLE ATLAQKGQDS HWVEDKQLFI 550
    KRNQELLEKI EKQEAENHRL QQELQDARDQ NELLEFRNLE LEERERRSPP 600
    FNLQIHPFSD GVSALQIYCM KEGVKDVNIP DLIKQLDILG DNGNLRNEEQ 650
    VAIIQASTVL SLAEKWIQQI EGAEAALHQK MMELESDMEQ FCKIKGYLEE 700
    ELDYRKQALD QAYMRIQELE ATLYNALQQE TVIKFGELLS EKQQEELRTA 750
    VEKLRRQMLR KSREYDCQIL QERMELLQQA HQRIRDLEDK TDIQKRQIKD 800
    LEEKSNRKHG 810
    Length:810
    Mass (Da):94,934
    Last modified:December 1, 2001 - v1
    Checksum:iD81480AD76DA6A10
    GO
    Isoform 2 (identifier: Q96AA8-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         539-559: Missing.
         805-810: SNRKHG → FLFLFLFFSLAFILWP

    Show »
    Length:799
    Mass (Da):93,620
    Checksum:i40CD6861B348F2C4
    GO
    Isoform 3 (identifier: Q96AA8-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         805-810: SNRKHG → FLFLFLFFSLAFILWP

    Show »
    Length:820
    Mass (Da):96,258
    Checksum:i7C1D5257F1E325AE
    GO
    Isoform 4 (identifier: Q96AA8-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-43: MSKKGRNKGEKPEALIVALQAANEDLRTKLTDIQIELHQEKSK → M
         805-810: SNRKHG → FLFLFLFFSLAFILWP

    Note: No experimental confirmation available.

    Show »
    Length:778
    Mass (Da):91,546
    Checksum:i452F8ED6B1F72BA4
    GO

    Sequence cautioni

    The sequence BAA25481.2 differs from that shown. Reason: Frameshift at position 805.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti106 – 1061V → I.
    Corresponds to variant rs3749736 [ dbSNP | Ensembl ].
    VAR_022059
    Natural varianti315 – 3151R → C in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_035930

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 4343MSKKG…QEKSK → M in isoform 4. 1 PublicationVSP_055264Add
    BLAST
    Alternative sequencei539 – 55921Missing in isoform 2. 1 PublicationVSP_002430Add
    BLAST
    Alternative sequencei805 – 8106SNRKHG → FLFLFLFFSLAFILWP in isoform 2, isoform 3 and isoform 4. 3 PublicationsVSP_028230

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK291280 mRNA. Translation: BAF83969.1.
    AK299724 mRNA. Translation: BAG61622.1.
    EF512550 mRNA. Translation: ABP62932.1.
    AF273057 mRNA. Translation: AAM44460.1.
    AB011127 mRNA. Translation: BAA25481.2. Frameshift.
    AC011370 Genomic DNA. No translation available.
    AC011415 Genomic DNA. No translation available.
    AC126775 Genomic DNA. No translation available.
    CH471062 Genomic DNA. Translation: EAW61820.1.
    CH471062 Genomic DNA. Translation: EAW61821.1.
    BC017354 mRNA. Translation: AAH17354.1.
    CCDSiCCDS4285.1. [Q96AA8-1]
    CCDS64284.1. [Q96AA8-4]
    PIRiT00331.
    RefSeqiNP_001257863.1. NM_001270934.1.
    NP_001257870.1. NM_001270941.1. [Q96AA8-3]
    NP_001269211.1. NM_001282282.1.
    NP_055605.2. NM_014790.4. [Q96AA8-1]
    UniGeneiHs.740461.
    Hs.744926.

    Genome annotation databases

    EnsembliENST00000265272; ENSP00000265272; ENSG00000176049. [Q96AA8-1]
    ENST00000333010; ENSP00000328989; ENSG00000176049. [Q96AA8-4]
    ENST00000507386; ENSP00000421398; ENSG00000176049. [Q96AA8-2]
    GeneIDi9832.
    KEGGihsa:9832.
    UCSCiuc003loq.2. human. [Q96AA8-1]
    uc010jgo.2. human. [Q96AA8-3]

    Polymorphism databases

    DMDMi20140696.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK291280 mRNA. Translation: BAF83969.1 .
    AK299724 mRNA. Translation: BAG61622.1 .
    EF512550 mRNA. Translation: ABP62932.1 .
    AF273057 mRNA. Translation: AAM44460.1 .
    AB011127 mRNA. Translation: BAA25481.2 . Frameshift.
    AC011370 Genomic DNA. No translation available.
    AC011415 Genomic DNA. No translation available.
    AC126775 Genomic DNA. No translation available.
    CH471062 Genomic DNA. Translation: EAW61820.1 .
    CH471062 Genomic DNA. Translation: EAW61821.1 .
    BC017354 mRNA. Translation: AAH17354.1 .
    CCDSi CCDS4285.1. [Q96AA8-1 ]
    CCDS64284.1. [Q96AA8-4 ]
    PIRi T00331.
    RefSeqi NP_001257863.1. NM_001270934.1.
    NP_001257870.1. NM_001270941.1. [Q96AA8-3 ]
    NP_001269211.1. NM_001282282.1.
    NP_055605.2. NM_014790.4. [Q96AA8-1 ]
    UniGenei Hs.740461.
    Hs.744926.

    3D structure databases

    ProteinModelPortali Q96AA8.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115170. 1 interaction.
    IntActi Q96AA8. 1 interaction.
    MINTi MINT-1445731.
    STRINGi 9606.ENSP00000265272.

    PTM databases

    PhosphoSitei Q96AA8.

    Polymorphism databases

    DMDMi 20140696.

    Proteomic databases

    PaxDbi Q96AA8.
    PRIDEi Q96AA8.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000265272 ; ENSP00000265272 ; ENSG00000176049 . [Q96AA8-1 ]
    ENST00000333010 ; ENSP00000328989 ; ENSG00000176049 . [Q96AA8-4 ]
    ENST00000507386 ; ENSP00000421398 ; ENSG00000176049 . [Q96AA8-2 ]
    GeneIDi 9832.
    KEGGi hsa:9832.
    UCSCi uc003loq.2. human. [Q96AA8-1 ]
    uc010jgo.2. human. [Q96AA8-3 ]

    Organism-specific databases

    CTDi 9832.
    GeneCardsi GC05M146949.
    HGNCi HGNC:29067. JAKMIP2.
    HPAi HPA046929.
    MIMi 611197. gene.
    neXtProti NX_Q96AA8.
    PharmGKBi PA143485509.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG147883.
    HOGENOMi HOG000060161.
    HOVERGENi HBG054249.
    OMAi CLTKRND.
    PhylomeDBi Q96AA8.
    TreeFami TF331900.

    Miscellaneous databases

    ChiTaRSi JAKMIP2. human.
    GenomeRNAii 9832.
    NextBioi 35474653.
    PROi Q96AA8.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96AA8.
    Bgeei Q96AA8.
    CleanExi HS_JAKMIP2.
    Genevestigatori Q96AA8.

    Family and domain databases

    InterProi IPR024836. JAKMIP.
    [Graphical view ]
    PANTHERi PTHR18935. PTHR18935. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "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] (ISOFORMS 1 AND 4).
      Tissue: Brain.
    2. "Identification and characterization of two novel (neuro)endocrine long coiled-coil proteins."
      Cruz-Garcia D., Vazquez-Martinez R., Peinado J.R., Anouar Y., Tonon M.C., Vaudry H., Castano J.P., Malagon M.M.
      FEBS Lett. 581:3149-3156(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
      Tissue: Cervix carcinoma.
    3. "SEREX identification of new tumour-associated antigens in cutaneous T-cell lymphoma."
      Hartmann T.B., Thiel D., Dummer R., Schadendorf D., Eichmueller S.
      Br. J. Dermatol. 150:252-258(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: T-cell lymphoma.
    4. "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
      Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 5:31-39(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Brain.
    5. "The DNA sequence and comparative analysis of human chromosome 5."
      Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
      , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
      Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Muscle.
    8. "Jamip1 (marlin-1) defines a family of proteins interacting with Janus kinases and microtubules."
      Steindler C., Li Z., Algarte M., Alcover A., Libri V., Ragimbeau J., Pellegrini S.
      J. Biol. Chem. 279:43168-43177(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    9. Cited for: VARIANT [LARGE SCALE ANALYSIS] CYS-315.

    Entry informationi

    Entry nameiJKIP2_HUMAN
    AccessioniPrimary (citable) accession number: Q96AA8
    Secondary accession number(s): A4ZZA7
    , A8K5G5, B4DSG0, G5E9Y0, O60302, Q548S1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 23, 2002
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 99 of the entry and version 1 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 5
      Human chromosome 5: 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. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3