ID HECA2_HUMAN Reviewed; 462 AA. AC A8MVW5; B3KTT4; B4DPJ1; B9EG93; E9PDV5; Q6UXI0; DT 29-APR-2008, integrated into UniProtKB/Swiss-Prot. DT 04-DEC-2007, sequence version 1. DT 13-FEB-2019, entry version 103. DE RecName: Full=HEPACAM family member 2; DE AltName: Full=Mitotic kinetics regulator; DE Flags: Precursor; GN Name=HEPACAM2; Synonyms=MIKI; ORFNames=UNQ305/PRO346; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). RX PubMed=12975309; DOI=10.1101/gr.1293003; RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., RA Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., RA Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., RA Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., RA Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., RA Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., RA Wood W.I., Godowski P.J., Gray A.M.; RT "The secreted protein discovery initiative (SPDI), a large-scale RT effort to identify novel human secreted and transmembrane proteins: a RT bioinformatics assessment."; RL Genome Res. 13:2265-2270(2003). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3). RC TISSUE=Kidney; RX PubMed=14702039; DOI=10.1038/ng1285; RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S., RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.; RT "Complete sequencing and characterization of 21,243 full-length human RT cDNAs."; RL Nat. Genet. 36:40-45(2004). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=12853948; DOI=10.1038/nature01782; RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., RA Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., RA Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., RA Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., RA Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., RA Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., RA Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., RA Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., RA Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., RA Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., RA Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., RA Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., RA Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., RA Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., RA Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., RA Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., RA Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., RA Waterston R.H., Wilson R.K.; RT "The DNA sequence of human chromosome 7."; RL Nature 424:157-164(2003). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [5] RP TISSUE SPECIFICITY, ALTERNATIVE SPLICING, SUBCELLULAR LOCATION, AND RP GLYCOSYLATION. RX PubMed=19358830; DOI=10.1016/j.bbrc.2009.04.004; RA Asou H., Matsui H., Ozaki Y., Nagamachi A., Nakamura M., Aki D., RA Inaba T.; RT "Identification of a common microdeletion cluster in 7q21.3 subband RT among patients with myeloid leukemia and myelodysplastic syndrome."; RL Biochem. Biophys. Res. Commun. 383:245-251(2009). RN [6] RP FUNCTION, SUBCELLULAR LOCATION, GLYCOSYLATION, AND ADP-RIBOSYLATION. RX PubMed=22864114; DOI=10.1016/j.molcel.2012.06.033; RA Ozaki Y., Matsui H., Asou H., Nagamachi A., Aki D., Honda H., RA Yasunaga S., Takihara Y., Yamamoto T., Izumi S., Ohsugi M., Inaba T.; RT "Poly-ADP ribosylation of Miki by tankyrase-1 promotes centrosome RT maturation."; RL Mol. Cell 47:694-706(2012). RN [7] RP VARIANT [LARGE SCALE ANALYSIS] ARG-31. RX PubMed=16959974; DOI=10.1126/science.1133427; RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., RA Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., RA Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C., RA Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., RA Vogelstein B., Kinzler K.W., Velculescu V.E.; RT "The consensus coding sequences of human breast and colorectal RT cancers."; RL Science 314:268-274(2006). RN [8] RP VARIANT LEU-114. RX PubMed=21248752; DOI=10.1038/nature09639; RA Varela I., Tarpey P., Raine K., Huang D., Ong C.K., Stephens P., RA Davies H., Jones D., Lin M.L., Teague J., Bignell G., Butler A., RA Cho J., Dalgliesh G.L., Galappaththige D., Greenman C., Hardy C., RA Jia M., Latimer C., Lau K.W., Marshall J., McLaren S., Menzies A., RA Mudie L., Stebbings L., Largaespada D.A., Wessels L.F.A., Richard S., RA Kahnoski R.J., Anema J., Tuveson D.A., Perez-Mancera P.A., RA Mustonen V., Fischer A., Adams D.J., Rust A., Chan-On W., Subimerb C., RA Dykema K., Furge K., Campbell P.J., Teh B.T., Stratton M.R., RA Futreal P.A.; RT "Exome sequencing identifies frequent mutation of the SWI/SNF complex RT gene PBRM1 in renal carcinoma."; RL Nature 469:539-542(2011). CC -!- FUNCTION: Required during prometaphase for centrosome maturation. CC Following poly-ADP-ribosylation (PARsylation) by TNKS, CC translocates from the Golgi apparatus to mitotic centrosomes and CC plays a key role in the formation of robust microtubules for CC prompt movement of chromosomes: anchors AKAP9/CG-NAP, a scaffold CC protein of the gamma-tubulin ring complex and promotes centrosome CC maturation. {ECO:0000269|PubMed:22864114}. CC -!- SUBCELLULAR LOCATION: Golgi apparatus membrane CC {ECO:0000269|PubMed:19358830, ECO:0000269|PubMed:22864114}; CC Single-pass type I membrane protein {ECO:0000255}. Cytoplasm, CC cytoskeleton, spindle {ECO:0000269|PubMed:19358830, CC ECO:0000269|PubMed:22864114}. Cytoplasm, cytoskeleton, microtubule CC organizing center, centrosome {ECO:0000269|PubMed:19358830, CC ECO:0000269|PubMed:22864114}. Midbody CC {ECO:0000269|PubMed:22864114}. Note=In interphase, localizes to CC the Golgi apparatus. Localizes to centrosomes and spindles during CC prophase, prometaphase, and metaphase of mitosis, and to midbodies CC at telophase. Translocation to mitotic centrosomes is the result CC of poly-ADP-ribosylation (PARsylation). CC {ECO:0000269|PubMed:19358830, ECO:0000269|PubMed:22864114}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=3; CC Name=1; CC IsoId=A8MVW5-1; Sequence=Displayed; CC Name=2; CC IsoId=A8MVW5-2; Sequence=VSP_033355; CC Name=3; CC IsoId=A8MVW5-3; Sequence=VSP_044322; CC Note=No experimental confirmation available.; CC -!- TISSUE SPECIFICITY: Widely expressed. CC {ECO:0000269|PubMed:19358830}. CC -!- PTM: Poly-ADP-ribosylated (PARsylated) by tankyrase TNKS during CC late G2 and prophase, leading to translocation to mitotic CC centrosomes. CC -!- PTM: N-glycosylated. {ECO:0000269|PubMed:19358830, CC ECO:0000269|PubMed:22864114}. CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC ----------------------------------------------------------------------- DR EMBL; AY358345; AAQ88711.1; -; mRNA. DR EMBL; AK096002; BAG53196.1; -; mRNA. DR EMBL; AK298361; BAG60603.1; -; mRNA. DR EMBL; AC000119; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC002453; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; BC136300; AAI36301.1; -; mRNA. DR EMBL; BC136301; AAI36302.1; -; mRNA. DR EMBL; BC139906; AAI39907.1; -; mRNA. DR CCDS; CCDS43616.1; -. [A8MVW5-1] DR CCDS; CCDS5629.1; -. [A8MVW5-2] DR CCDS; CCDS75632.1; -. [A8MVW5-3] DR RefSeq; NP_001034461.1; NM_001039372.3. [A8MVW5-1] DR RefSeq; NP_001275733.1; NM_001288804.2. [A8MVW5-3] DR RefSeq; NP_001275739.1; NM_001288810.2. DR RefSeq; NP_937794.1; NM_198151.3. [A8MVW5-2] DR UniGene; Hs.443169; -. DR ProteinModelPortal; A8MVW5; -. DR SMR; A8MVW5; -. DR BioGrid; 128949; 38. DR STRING; 9606.ENSP00000377980; -. DR iPTMnet; A8MVW5; -. DR PhosphoSitePlus; A8MVW5; -. DR BioMuta; HEPACAM2; -. DR PaxDb; A8MVW5; -. DR PRIDE; A8MVW5; -. DR ProteomicsDB; 2210; -. DR ProteomicsDB; 2211; -. [A8MVW5-2] DR Ensembl; ENST00000341723; ENSP00000340532; ENSG00000188175. [A8MVW5-2] DR Ensembl; ENST00000394468; ENSP00000377980; ENSG00000188175. [A8MVW5-1] DR Ensembl; ENST00000453812; ENSP00000390204; ENSG00000188175. [A8MVW5-3] DR GeneID; 253012; -. DR KEGG; hsa:253012; -. DR UCSC; uc003uml.5; human. [A8MVW5-1] DR CTD; 253012; -. DR EuPathDB; HostDB:ENSG00000188175.9; -. DR GeneCards; HEPACAM2; -. DR HGNC; HGNC:27364; HEPACAM2. DR MIM; 614133; gene. DR neXtProt; NX_A8MVW5; -. DR OpenTargets; ENSG00000188175; -. DR PharmGKB; PA162390849; -. DR eggNOG; ENOG410IK28; Eukaryota. DR eggNOG; ENOG410Z756; LUCA. DR GeneTree; ENSGT00530000063550; -. DR HOGENOM; HOG000263412; -. DR HOVERGEN; HBG063553; -. DR InParanoid; A8MVW5; -. DR OMA; GPYGLRV; -. DR OrthoDB; 964418at2759; -. DR PhylomeDB; A8MVW5; -. DR TreeFam; TF331199; -. DR GenomeRNAi; 253012; -. DR PRO; PR:A8MVW5; -. DR Proteomes; UP000005640; Chromosome 7. DR Bgee; ENSG00000188175; Expressed in 84 organ(s), highest expression level in mucosa of sigmoid colon. DR ExpressionAtlas; A8MVW5; baseline and differential. DR Genevisible; A8MVW5; HS. DR GO; GO:0005813; C:centrosome; IDA:UniProtKB. DR GO; GO:0005794; C:Golgi apparatus; IDA:UniProtKB. DR GO; GO:0000139; C:Golgi membrane; IEA:UniProtKB-SubCell. DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW. DR GO; GO:0030496; C:midbody; IDA:UniProtKB. DR GO; GO:0005819; C:spindle; IDA:UniProtKB. DR GO; GO:0051301; P:cell division; IEA:UniProtKB-KW. DR GO; GO:0007098; P:centrosome cycle; IMP:UniProtKB. DR Gene3D; 2.60.40.10; -; 3. DR InterPro; IPR007110; Ig-like_dom. DR InterPro; IPR036179; Ig-like_dom_sf. DR InterPro; IPR013783; Ig-like_fold. DR InterPro; IPR003599; Ig_sub. DR InterPro; IPR003598; Ig_sub2. DR SMART; SM00409; IG; 3. DR SMART; SM00408; IGc2; 1. DR SUPFAM; SSF48726; SSF48726; 3. DR PROSITE; PS50835; IG_LIKE; 2. PE 1: Evidence at protein level; KW ADP-ribosylation; Alternative splicing; Cell cycle; Cell division; KW Complete proteome; Cytoplasm; Cytoskeleton; Disulfide bond; KW Glycoprotein; Golgi apparatus; Immunoglobulin domain; Membrane; KW Mitosis; Polymorphism; Reference proteome; Repeat; Signal; KW Transmembrane; Transmembrane helix. FT SIGNAL 1 31 {ECO:0000255}. FT CHAIN 32 462 HEPACAM family member 2. FT /FTId=PRO_0000332220. FT TRANSMEM 352 372 Helical. {ECO:0000255}. FT TOPO_DOM 373 462 Cytoplasmic. {ECO:0000255}. FT DOMAIN 149 233 Ig-like C2-type 1. FT DOMAIN 235 331 Ig-like C2-type 2. FT CARBOHYD 85 85 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 129 129 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 165 165 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 320 320 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT DISULFID 170 219 {ECO:0000255|PROSITE-ProRule:PRU00114}. FT DISULFID 270 315 {ECO:0000255|PROSITE-ProRule:PRU00114}. FT VAR_SEQ 1 26 MGQDAFMEPFGDTLGVFQCKIYLLLF -> MWLKVFTTFLS FT FAT (in isoform 2). FT {ECO:0000303|PubMed:12975309, FT ECO:0000303|PubMed:15489334}. FT /FTId=VSP_033355. FT VAR_SEQ 26 26 F -> FDIVANCLLLRFKLSVSSYEIWKK (in isoform FT 3). {ECO:0000303|PubMed:14702039}. FT /FTId=VSP_044322. FT VARIANT 31 31 G -> R (in a breast cancer sample; FT somatic mutation). FT {ECO:0000269|PubMed:16959974}. FT /FTId=VAR_042976. FT VARIANT 86 86 K -> T (in dbSNP:rs10281525). FT /FTId=VAR_042977. FT VARIANT 114 114 F -> L (found in a renal cell carcinoma FT sample; somatic mutation; FT dbSNP:rs555587403). FT {ECO:0000269|PubMed:21248752}. FT /FTId=VAR_064721. FT CONFLICT 277 277 P -> S (in Ref. 2; BAG60603). FT {ECO:0000305}. SQ SEQUENCE 462 AA; 51407 MW; E38DE6E4CCAA6BC2 CRC64; MGQDAFMEPF GDTLGVFQCK IYLLLFGACS GLKVTVPSHT VHGVRGQALY LPVHYGFHTP ASDIQIIWLF ERPHTMPKYL LGSVNKSVVP DLEYQHKFTM MPPNASLLIN PLQFPDEGNY IVKVNIQGNG TLSASQKIQV TVDDPVTKPV VQIHPPSGAV EYVGNMTLTC HVEGGTRLAY QWLKNGRPVH TSSTYSFSPQ NNTLHIAPVT KEDIGNYSCL VRNPVSEMES DIIMPIIYYG PYGLQVNSDK GLKVGEVFTV DLGEAILFDC SADSHPPNTY SWIRRTDNTT YIIKHGPRLE VASEKVAQKT MDYVCCAYNN ITGRQDETHF TVIITSVGLE KLAQKGKSLS PLASITGISL FLIISMCLLF LWKKYQPYKV IKQKLEGRPE TEYRKAQTFS GHEDALDDFG IYEFVAFPDV SGVSRIPSRS VPASDCVSGQ DLHSTVYEVI QHIPAQQQDH PE //