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A8MVW5

- HECA2_HUMAN

UniProt

A8MVW5 - HECA2_HUMAN

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Protein

HEPACAM family member 2

Gene

HEPACAM2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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 - Biological processi

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

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).

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini32 – 351320ExtracellularSequence AnalysisAdd
BLAST
Transmembranei352 – 37221HelicalSequence AnalysisAdd
BLAST
Topological domaini373 – 46290CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

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

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

BgeeiA8MVW5.
CleanExiHS_HEPACAM2.
ExpressionAtlasiA8MVW5. baseline and differential.
GenevestigatoriA8MVW5.

Organism-specific databases

HPAiHPA012381.

Interactioni

Protein-protein interaction databases

BioGridi128949. 34 interactions.
STRINGi9606.ENSP00000377980.

Structurei

3D structure databases

ProteinModelPortaliA8MVW5.
SMRiA8MVW5. Positions 34-282.
ModBaseiSearch...
MobiDBiSearch...

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.
GeneTreeiENSGT00530000063550.
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

        10         20         30         40         50
MGQDAFMEPF GDTLGVFQCK IYLLLFGACS GLKVTVPSHT VHGVRGQALY
60 70 80 90 100
LPVHYGFHTP ASDIQIIWLF ERPHTMPKYL LGSVNKSVVP DLEYQHKFTM
110 120 130 140 150
MPPNASLLIN PLQFPDEGNY IVKVNIQGNG TLSASQKIQV TVDDPVTKPV
160 170 180 190 200
VQIHPPSGAV EYVGNMTLTC HVEGGTRLAY QWLKNGRPVH TSSTYSFSPQ
210 220 230 240 250
NNTLHIAPVT KEDIGNYSCL VRNPVSEMES DIIMPIIYYG PYGLQVNSDK
260 270 280 290 300
GLKVGEVFTV DLGEAILFDC SADSHPPNTY SWIRRTDNTT YIIKHGPRLE
310 320 330 340 350
VASEKVAQKT MDYVCCAYNN ITGRQDETHF TVIITSVGLE KLAQKGKSLS
360 370 380 390 400
PLASITGISL FLIISMCLLF LWKKYQPYKV IKQKLEGRPE TEYRKAQTFS
410 420 430 440 450
GHEDALDDFG IYEFVAFPDV SGVSRIPSRS VPASDCVSGQ DLHSTVYEVI
460
QHIPAQQQDH PE
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:
EMBLi
GenBanki
DDBJi
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]
CCDS75632.1. [A8MVW5-3]
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:
EMBLi
GenBanki
DDBJi
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 ]
CCDS75632.1. [A8MVW5-3 ]
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 34-282.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 128949. 34 interactions.
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.
GeneTreei ENSGT00530000063550.
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

Bgeei A8MVW5.
CleanExi HS_HEPACAM2.
ExpressionAtlasi A8MVW5. baseline and differential.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 70 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