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A8MVW5

- HECA2_HUMAN

UniProt

A8MVW5 - HECA2_HUMAN

Protein

HEPACAM family member 2

Gene

HEPACAM2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 68 (01 Oct 2014)
      Sequence version 1 (04 Dec 2007)
      Previous versions | rss
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    Functioni

    Required during prometaphase for centrosome maturation. Following poly-ADP-ribosylation (PARsylation) by TNKS, translocates from the Golgi apparatus to mitotic centrosomes and plays a key role in the formation of robust microtubules for prompt movement of chromosomes: anchors AKAP9/CG-NAP, a scaffold protein of the gamma-tubulin ring complex and promotes centrosome maturation.1 Publication

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. centrosome organization Source: UniProtKB
    2. mitotic nuclear division Source: UniProtKB-KW

    Keywords - Biological processi

    Cell cycle, Cell division, Mitosis

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    HEPACAM family member 2
    Alternative name(s):
    Mitotic kinetics regulator
    Gene namesi
    Name:HEPACAM2
    Synonyms:MIKI
    ORF Names:UNQ305/PRO346
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:27364. HEPACAM2.

    Subcellular locationi

    Golgi apparatus membrane; Single-pass type I membrane protein. Cytoplasmcytoskeletonspindle. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Midbody
    Note: In interphase, localizes to the Golgi apparatus. Localizes to centrosomes and spindles during prophase, prometaphase, and metaphase of mitosis, and to midbodies at telophase. Translocation to mitotic centrosomes is the result of poly-ADP-ribosylation (PARsylation).

    GO - Cellular componenti

    1. centrosome Source: UniProtKB
    2. Golgi apparatus Source: UniProtKB
    3. Golgi membrane Source: UniProtKB-SubCell
    4. integral component of membrane Source: UniProtKB-KW
    5. midbody Source: UniProtKB
    6. spindle Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton, Golgi apparatus, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162390849.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 3131Sequence AnalysisAdd
    BLAST
    Chaini32 – 462431HEPACAM family member 2PRO_0000332220Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi85 – 851N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi129 – 1291N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi165 – 1651N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi170 ↔ 219PROSITE-ProRule annotation
    Disulfide bondi270 ↔ 315PROSITE-ProRule annotation
    Glycosylationi320 – 3201N-linked (GlcNAc...)Sequence Analysis

    Post-translational modificationi

    Poly-ADP-ribosylated (PARsylated) by tankyrase TNKS during late G2 and prophase, leading to translocation to mitotic centrosomes.
    N-glycosylated.2 Publications

    Keywords - PTMi

    ADP-ribosylation, Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiA8MVW5.
    PRIDEiA8MVW5.

    PTM databases

    PhosphoSiteiA8MVW5.

    Expressioni

    Tissue specificityi

    Widely expressed.1 Publication

    Gene expression databases

    ArrayExpressiA8MVW5.
    BgeeiA8MVW5.
    CleanExiHS_HEPACAM2.
    GenevestigatoriA8MVW5.

    Organism-specific databases

    HPAiHPA012381.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000377980.

    Structurei

    3D structure databases

    ProteinModelPortaliA8MVW5.
    SMRiA8MVW5. Positions 87-282.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini32 – 351320ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini373 – 46290CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei352 – 37221HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini149 – 23385Ig-like C2-type 1Add
    BLAST
    Domaini235 – 33197Ig-like C2-type 2Add
    BLAST

    Sequence similaritiesi

    Keywords - Domaini

    Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG127746.
    HOGENOMiHOG000263412.
    HOVERGENiHBG063553.
    InParanoidiA8MVW5.
    OMAiIYYGPYG.
    OrthoDBiEOG7GN2MM.
    PhylomeDBiA8MVW5.
    TreeFamiTF331199.

    Family and domain databases

    Gene3Di2.60.40.10. 2 hits.
    InterProiIPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR013098. Ig_I-set.
    IPR003599. Ig_sub.
    IPR003598. Ig_sub2.
    IPR013106. Ig_V-set.
    [Graphical view]
    PfamiPF07679. I-set. 1 hit.
    PF07686. V-set. 1 hit.
    [Graphical view]
    SMARTiSM00409. IG. 1 hit.
    SM00408. IGc2. 1 hit.
    [Graphical view]
    PROSITEiPS50835. IG_LIKE. 2 hits.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: A8MVW5-1) [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

    MGQDAFMEPF GDTLGVFQCK IYLLLFGACS GLKVTVPSHT VHGVRGQALY    50
    LPVHYGFHTP ASDIQIIWLF ERPHTMPKYL LGSVNKSVVP DLEYQHKFTM 100
    MPPNASLLIN PLQFPDEGNY IVKVNIQGNG TLSASQKIQV TVDDPVTKPV 150
    VQIHPPSGAV EYVGNMTLTC HVEGGTRLAY QWLKNGRPVH TSSTYSFSPQ 200
    NNTLHIAPVT KEDIGNYSCL VRNPVSEMES DIIMPIIYYG PYGLQVNSDK 250
    GLKVGEVFTV DLGEAILFDC SADSHPPNTY SWIRRTDNTT YIIKHGPRLE 300
    VASEKVAQKT MDYVCCAYNN ITGRQDETHF TVIITSVGLE KLAQKGKSLS 350
    PLASITGISL FLIISMCLLF LWKKYQPYKV IKQKLEGRPE TEYRKAQTFS 400
    GHEDALDDFG IYEFVAFPDV SGVSRIPSRS VPASDCVSGQ DLHSTVYEVI 450
    QHIPAQQQDH PE 462
    Length:462
    Mass (Da):51,407
    Last modified:December 4, 2007 - v1
    Checksum:iE38DE6E4CCAA6BC2
    GO
    Isoform 2 (identifier: A8MVW5-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-26: MGQDAFMEPFGDTLGVFQCKIYLLLF → MWLKVFTTFLSFAT

    Show »
    Length:450
    Mass (Da):50,114
    Checksum:iA22FF822CC3CB226
    GO
    Isoform 3 (identifier: A8MVW5-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         26-26: F → FDIVANCLLLRFKLSVSSYEIWKK

    Note: No experimental confirmation available.

    Show »
    Length:485
    Mass (Da):54,115
    Checksum:iAEEBBDD00466C282
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti277 – 2771P → S in BAG60603. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti31 – 311G → R in a breast cancer sample; somatic mutation. 1 Publication
    VAR_042976
    Natural varianti86 – 861K → T.
    Corresponds to variant rs10281525 [ dbSNP | Ensembl ].
    VAR_042977
    Natural varianti114 – 1141F → L Found in a renal cell carcinoma sample; somatic mutation. 1 Publication
    VAR_064721

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 2626MGQDA…YLLLF → MWLKVFTTFLSFAT in isoform 2. 2 PublicationsVSP_033355Add
    BLAST
    Alternative sequencei26 – 261F → FDIVANCLLLRFKLSVSSYE IWKK in isoform 3. 1 PublicationVSP_044322

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY358345 mRNA. Translation: AAQ88711.1.
    AK096002 mRNA. Translation: BAG53196.1.
    AK298361 mRNA. Translation: BAG60603.1.
    AC000119 Genomic DNA. No translation available.
    AC002453 Genomic DNA. No translation available.
    BC136300 mRNA. Translation: AAI36301.1.
    BC136301 mRNA. Translation: AAI36302.1.
    BC139906 mRNA. Translation: AAI39907.1.
    CCDSiCCDS43616.1. [A8MVW5-1]
    CCDS5629.1. [A8MVW5-2]
    RefSeqiNP_001034461.1. NM_001039372.2. [A8MVW5-1]
    NP_001275733.1. NM_001288804.1. [A8MVW5-3]
    NP_001275739.1. NM_001288810.1.
    NP_937794.1. NM_198151.2. [A8MVW5-2]
    UniGeneiHs.443169.

    Genome annotation databases

    EnsembliENST00000341723; ENSP00000340532; ENSG00000188175. [A8MVW5-2]
    ENST00000394468; ENSP00000377980; ENSG00000188175. [A8MVW5-1]
    ENST00000453812; ENSP00000390204; ENSG00000188175. [A8MVW5-3]
    GeneIDi253012.
    KEGGihsa:253012.
    UCSCiuc003uml.3. human. [A8MVW5-2]
    uc003umm.3. human. [A8MVW5-1]
    uc011khy.2. human. [A8MVW5-3]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY358345 mRNA. Translation: AAQ88711.1 .
    AK096002 mRNA. Translation: BAG53196.1 .
    AK298361 mRNA. Translation: BAG60603.1 .
    AC000119 Genomic DNA. No translation available.
    AC002453 Genomic DNA. No translation available.
    BC136300 mRNA. Translation: AAI36301.1 .
    BC136301 mRNA. Translation: AAI36302.1 .
    BC139906 mRNA. Translation: AAI39907.1 .
    CCDSi CCDS43616.1. [A8MVW5-1 ]
    CCDS5629.1. [A8MVW5-2 ]
    RefSeqi NP_001034461.1. NM_001039372.2. [A8MVW5-1 ]
    NP_001275733.1. NM_001288804.1. [A8MVW5-3 ]
    NP_001275739.1. NM_001288810.1.
    NP_937794.1. NM_198151.2. [A8MVW5-2 ]
    UniGenei Hs.443169.

    3D structure databases

    ProteinModelPortali A8MVW5.
    SMRi A8MVW5. Positions 87-282.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000377980.

    PTM databases

    PhosphoSitei A8MVW5.

    Proteomic databases

    PaxDbi A8MVW5.
    PRIDEi A8MVW5.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000341723 ; ENSP00000340532 ; ENSG00000188175 . [A8MVW5-2 ]
    ENST00000394468 ; ENSP00000377980 ; ENSG00000188175 . [A8MVW5-1 ]
    ENST00000453812 ; ENSP00000390204 ; ENSG00000188175 . [A8MVW5-3 ]
    GeneIDi 253012.
    KEGGi hsa:253012.
    UCSCi uc003uml.3. human. [A8MVW5-2 ]
    uc003umm.3. human. [A8MVW5-1 ]
    uc011khy.2. human. [A8MVW5-3 ]

    Organism-specific databases

    CTDi 253012.
    GeneCardsi GC07M092817.
    HGNCi HGNC:27364. HEPACAM2.
    HPAi HPA012381.
    MIMi 614133. gene.
    neXtProti NX_A8MVW5.
    PharmGKBi PA162390849.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG127746.
    HOGENOMi HOG000263412.
    HOVERGENi HBG063553.
    InParanoidi A8MVW5.
    OMAi IYYGPYG.
    OrthoDBi EOG7GN2MM.
    PhylomeDBi A8MVW5.
    TreeFami TF331199.

    Miscellaneous databases

    GenomeRNAii 253012.
    NextBioi 92042.
    PROi A8MVW5.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi A8MVW5.
    Bgeei A8MVW5.
    CleanExi HS_HEPACAM2.
    Genevestigatori A8MVW5.

    Family and domain databases

    Gene3Di 2.60.40.10. 2 hits.
    InterProi IPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR013098. Ig_I-set.
    IPR003599. Ig_sub.
    IPR003598. Ig_sub2.
    IPR013106. Ig_V-set.
    [Graphical view ]
    Pfami PF07679. I-set. 1 hit.
    PF07686. V-set. 1 hit.
    [Graphical view ]
    SMARTi SM00409. IG. 1 hit.
    SM00408. IGc2. 1 hit.
    [Graphical view ]
    PROSITEi PS50835. IG_LIKE. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    2. "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 3).
      Tissue: Kidney.
    3. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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 2).
    5. "Identification of a common microdeletion cluster in 7q21.3 subband among patients with myeloid leukemia and myelodysplastic syndrome."
      Asou H., Matsui H., Ozaki Y., Nagamachi A., Nakamura M., Aki D., Inaba T.
      Biochem. Biophys. Res. Commun. 383:245-251(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY, ALTERNATIVE SPLICING, SUBCELLULAR LOCATION, GLYCOSYLATION.
    6. "Poly-ADP ribosylation of Miki by tankyrase-1 promotes centrosome maturation."
      Ozaki Y., Matsui H., Asou H., Nagamachi A., Aki D., Honda H., Yasunaga S., Takihara Y., Yamamoto T., Izumi S., Ohsugi M., Inaba T.
      Mol. Cell 47:694-706(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, GLYCOSYLATION, ADP-RIBOSYLATION.
    7. Cited for: VARIANT [LARGE SCALE ANALYSIS] ARG-31.
    8. Cited for: VARIANT LEU-114.

    Entry informationi

    Entry nameiHECA2_HUMAN
    AccessioniPrimary (citable) accession number: A8MVW5
    Secondary accession number(s): B3KTT4
    , B4DPJ1, B9EG93, E9PDV5, Q6UXI0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 29, 2008
    Last sequence update: December 4, 2007
    Last modified: October 1, 2014
    This is version 68 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 7
      Human chromosome 7: 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