A8MVW5 (HECA2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
HEPACAM family member 2

Alternative name(s):
Mitotic kinetics regulator

Gene names

Name:	HEPACAM2
Synonyms:	MIKI
ORF Names:	UNQ305/PRO346

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	462 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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. Ref.6
Subcellular location	Golgi apparatus membrane; Single-pass type I membrane protein. Cytoplasm › cytoskeleton › spindle. Cytoplasm › cytoskeleton › centrosome. 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). Ref.5 Ref.6
Tissue specificity	Widely expressed. Ref.5
Post-translational modification	Poly-ADP-ribosylated (PARsylated) by tankyrase TNKS during late G2 and prophase, leading to translocation to mitotic centrosomes. N-glycosylated. Ref.5 Ref.6
Sequence similarities	Contains 2 Ig-like C2-type (immunoglobulin-like) domains.

Ontologies

Keywords
Biological process	Cell cycle Cell division Mitosis
Cellular component	Cytoplasm Cytoskeleton Golgi apparatus Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Immunoglobulin domain Repeat Signal Transmembrane Transmembrane helix
PTM	ADP-ribosylation Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell division Inferred from electronic annotation. Source: UniProtKB-KW centrosome organization Inferred from mutant phenotype Ref.6. Source: UniProtKB mitotic prometaphase Inferred from mutant phenotype Ref.6. Source: UniProtKB
Cellular_component	Golgi apparatus Inferred from direct assay Ref.6. Source: UniProtKB Golgi membrane Inferred from electronic annotation. Source: UniProtKB-SubCell centrosome Inferred from direct assay Ref.6. Source: UniProtKB integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW midbody Inferred from direct assay Ref.6. Source: UniProtKB spindle Inferred from direct assay Ref.6. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: A8MVW5-1)

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.

Isoform 2 (identifier: A8MVW5-2)

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

Isoform 3 (identifier: A8MVW5-3)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 31	31	Potential
	Chain	32 – 462	431	HEPACAM family member 2		PRO_0000332220
Regions
	Topological domain	32 – 351	320	Extracellular Potential
	Transmembrane	352 – 372	21	Helical; Potential
	Topological domain	373 – 462	90	Cytoplasmic Potential
	Domain	149 – 233	85	Ig-like C2-type 1
	Domain	235 – 331	97	Ig-like C2-type 2
Amino acid modifications
	Glycosylation	85	1	N-linked (GlcNAc...) Potential
	Glycosylation	129	1	N-linked (GlcNAc...) Potential
	Glycosylation	165	1	N-linked (GlcNAc...) Potential
	Glycosylation	320	1	N-linked (GlcNAc...) Potential
	Disulfide bond	170 ↔ 219		By similarity
	Disulfide bond	270 ↔ 315		By similarity
Natural variations
	Alternative sequence	1 – 26	26	MGQDA…YLLLF → MWLKVFTTFLSFAT in isoform 2.		VSP_033355
	Alternative sequence	26	1	F → FDIVANCLLLRFKLSVSSYE IWKK in isoform 3.		VSP_044322
	Natural variant	31	1	G → R in a breast cancer sample; somatic mutation. Ref.7		VAR_042976
	Natural variant	86	1	K → T. Corresponds to variant rs10281525 [ dbSNP | Ensembl ].		VAR_042977
	Natural variant	114	1	F → L Found in a renal cell carcinoma sample; somatic mutation. Ref.8		VAR_064721
Experimental info
	Sequence conflict	277	1	P → S in BAG60603. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 4, 2007. Version 1. Checksum: E38DE6E4CCAA6BC2	FASTA	462	51,407
	10 20 30 40 50 60 MGQDAFMEPF GDTLGVFQCK IYLLLFGACS GLKVTVPSHT VHGVRGQALY LPVHYGFHTP 70 80 90 100 110 120 ASDIQIIWLF ERPHTMPKYL LGSVNKSVVP DLEYQHKFTM MPPNASLLIN PLQFPDEGNY 130 140 150 160 170 180 IVKVNIQGNG TLSASQKIQV TVDDPVTKPV VQIHPPSGAV EYVGNMTLTC HVEGGTRLAY 190 200 210 220 230 240 QWLKNGRPVH TSSTYSFSPQ NNTLHIAPVT KEDIGNYSCL VRNPVSEMES DIIMPIIYYG 250 260 270 280 290 300 PYGLQVNSDK GLKVGEVFTV DLGEAILFDC SADSHPPNTY SWIRRTDNTT YIIKHGPRLE 310 320 330 340 350 360 VASEKVAQKT MDYVCCAYNN ITGRQDETHF TVIITSVGLE KLAQKGKSLS PLASITGISL 370 380 390 400 410 420 FLIISMCLLF LWKKYQPYKV IKQKLEGRPE TEYRKAQTFS GHEDALDDFG IYEFVAFPDV 430 440 450 460 SGVSRIPSRS VPASDCVSGQ DLHSTVYEVI QHIPAQQQDH PE
	Isoform 2 [UniParc]. Checksum: A22FF822CC3CB226	FASTA	450	50,114
	10 20 30 40 50 60 MWLKVFTTFL SFATGACSGL KVTVPSHTVH GVRGQALYLP VHYGFHTPAS DIQIIWLFER 70 80 90 100 110 120 PHTMPKYLLG SVNKSVVPDL EYQHKFTMMP PNASLLINPL QFPDEGNYIV KVNIQGNGTL 130 140 150 160 170 180 SASQKIQVTV DDPVTKPVVQ IHPPSGAVEY VGNMTLTCHV EGGTRLAYQW LKNGRPVHTS 190 200 210 220 230 240 STYSFSPQNN TLHIAPVTKE DIGNYSCLVR NPVSEMESDI IMPIIYYGPY GLQVNSDKGL 250 260 270 280 290 300 KVGEVFTVDL GEAILFDCSA DSHPPNTYSW IRRTDNTTYI IKHGPRLEVA SEKVAQKTMD 310 320 330 340 350 360 YVCCAYNNIT GRQDETHFTV IITSVGLEKL AQKGKSLSPL ASITGISLFL IISMCLLFLW 370 380 390 400 410 420 KKYQPYKVIK QKLEGRPETE YRKAQTFSGH EDALDDFGIY EFVAFPDVSG VSRIPSRSVP 430 440 450 ASDCVSGQDL HSTVYEVIQH IPAQQQDHPE
	Isoform 3 [UniParc]. Checksum: AEEBBDD00466C282	FASTA	485	54,115
	10 20 30 40 50 60 MGQDAFMEPF GDTLGVFQCK IYLLLFDIVA NCLLLRFKLS VSSYEIWKKG ACSGLKVTVP 70 80 90 100 110 120 SHTVHGVRGQ ALYLPVHYGF HTPASDIQII WLFERPHTMP KYLLGSVNKS VVPDLEYQHK 130 140 150 160 170 180 FTMMPPNASL LINPLQFPDE GNYIVKVNIQ GNGTLSASQK IQVTVDDPVT KPVVQIHPPS 190 200 210 220 230 240 GAVEYVGNMT LTCHVEGGTR LAYQWLKNGR PVHTSSTYSF SPQNNTLHIA PVTKEDIGNY 250 260 270 280 290 300 SCLVRNPVSE MESDIIMPII YYGPYGLQVN SDKGLKVGEV FTVDLGEAIL FDCSADSHPP 310 320 330 340 350 360 NTYSWIRRTD NTTYIIKHGP RLEVASEKVA QKTMDYVCCA YNNITGRQDE THFTVIITSV 370 380 390 400 410 420 GLEKLAQKGK SLSPLASITG ISLFLIISMC LLFLWKKYQP YKVIKQKLEG RPETEYRKAQ 430 440 450 460 470 480 TFSGHEDALD DFGIYEFVAF PDVSGVSRIP SRSVPASDCV SGQDLHSTVY EVIQHIPAQQ QDHPE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] 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]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] ARG-31.
[8]	"Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma." Varela I., Tarpey P., Raine K., Huang D., Ong C.K., Stephens P., Davies H., Jones D., Lin M.L., Teague J., Bignell G., Butler A., Cho J., Dalgliesh G.L., Galappaththige D., Greenman C., Hardy C., Jia M. , Latimer C., Lau K.W., Marshall J., McLaren S., Menzies A., Mudie L., Stebbings L., Largaespada D.A., Wessels L.F.A., Richard S., Kahnoski R.J., Anema J., Tuveson D.A., Perez-Mancera P.A., Mustonen V., Fischer A., Adams D.J., Rust A., Chan-On W., Subimerb C., Dykema K., Furge K., Campbell P.J., Teh B.T., Stratton M.R., Futreal P.A. Nature 469:539-542(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT LEU-114.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00377047. IPI00719310.
RefSeq	NP_001034461.1. NM_001039372.1. NP_937794.1. NM_198151.1.
UniGene	Hs.443169.
3D structure databases
ProteinModelPortal	A8MVW5.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000377980.
PTM databases
PhosphoSite	A8MVW5.
Proteomic databases
PaxDb	A8MVW5.
PRIDE	A8MVW5.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000341723; ENSP00000340532; ENSG00000188175. ENST00000394468; ENSP00000377980; ENSG00000188175. ENST00000453812; ENSP00000390204; ENSG00000188175.
GeneID	253012.
KEGG	hsa:253012.
UCSC	uc003uml.3. human. uc003umm.3. human. uc011khy.2. human.
Organism-specific databases
CTD	253012.
GeneCards	GC07M092817.
HGNC	HGNC:27364. HEPACAM2.
HPA	HPA012381.
MIM	614133. gene.
neXtProt	NX_A8MVW5.
PharmGKB	PA162390849.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG127746.
HOGENOM	HOG000263412.
HOVERGEN	HBG063553.
InParanoid	A8MVW5.
OMA	PPNTYSW.
OrthoDB	EOG46MBJT.
Gene expression databases
ArrayExpress	A8MVW5.
Bgee	A8MVW5.
CleanEx	HS_HEPACAM2.
Genevestigator	A8MVW5.
Family and domain databases
Gene3D	2.60.40.10. 2 hits.
InterPro	IPR007110. Ig-like_dom. IPR013783. Ig-like_fold. IPR013098. Ig_I-set. IPR003599. Ig_sub. IPR003598. Ig_sub2. IPR013106. Ig_V-set. [Graphical view]
Pfam	PF07679. I-set. 1 hit. PF07686. V-set. 1 hit. [Graphical view]
SMART	SM00409. IG. 1 hit. SM00408. IGc2. 1 hit. [Graphical view]
PROSITE	PS50835. IG_LIKE. 2 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	253012.
NextBio	92042.
SOURCE	Search...

Entry information

Entry name

HECA2_HUMAN

Accession

Primary (citable) accession number: A8MVW5
Secondary accession number(s): B3KTT4 , B4DPJ1, B9EG93, E9PDV5, Q6UXI0

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 29, 2008
Last sequence update:	December 4, 2007
Last modified:	May 29, 2013
This is version 56 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.