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Protein

HEPACAM family member 2

Gene

HEPACAM2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

  • cell division Source: UniProtKB-KW
  • centrosome cycle Source: UniProtKB

Keywordsi

Biological processCell 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
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000188175.9
HGNCiHGNC:27364 HEPACAM2
MIMi614133 gene
neXtProtiNX_A8MVW5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei352 – 372HelicalSequence analysisAdd BLAST21
Topological domaini373 – 462CytoplasmicSequence analysisAdd BLAST90

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000188175
PharmGKBiPA162390849

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 31Sequence analysisAdd BLAST31
ChainiPRO_000033222032 – 462HEPACAM family member 2Add BLAST431

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi85N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi129N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi165N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi170 ↔ 219PROSITE-ProRule annotation
Disulfide bondi270 ↔ 315PROSITE-ProRule annotation
Glycosylationi320N-linked (GlcNAc...) asparagineSequence analysis1

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
ProteomicsDBi2210
2211 [A8MVW5-2]

PTM databases

iPTMnetiA8MVW5
PhosphoSitePlusiA8MVW5

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiENSG00000188175 Expressed in 84 organ(s), highest expression level in mucosa of sigmoid colon
CleanExiHS_HEPACAM2
ExpressionAtlasiA8MVW5 baseline and differential
GenevisibleiA8MVW5 HS

Interactioni

Protein-protein interaction databases

BioGridi128949, 38 interactors
STRINGi9606.ENSP00000377980

Structurei

3D structure databases

ProteinModelPortaliA8MVW5
SMRiA8MVW5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini149 – 233Ig-like C2-type 1Add BLAST85
Domaini235 – 331Ig-like C2-type 2Add BLAST97

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IK28 Eukaryota
ENOG410Z756 LUCA
GeneTreeiENSGT00530000063550
HOGENOMiHOG000263412
HOVERGENiHBG063553
InParanoidiA8MVW5
OMAiGPYGLRV
OrthoDBiEOG091G05OZ
PhylomeDBiA8MVW5
TreeFamiTF331199

Family and domain databases

Gene3Di2.60.40.10, 3 hits
InterProiView protein in InterPro
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR003599 Ig_sub
IPR003598 Ig_sub2
SMARTiView protein in SMART
SM00409 IG, 3 hits
SM00408 IGc2, 1 hit
SUPFAMiSSF48726 SSF48726, 3 hits
PROSITEiView protein in PROSITE
PS50835 IG_LIKE, 2 hits

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. AlignAdd to basket

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JN07C9JN07_HUMAN
HEPACAM family member 2
HEPACAM2
455Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti277P → S in BAG60603 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04297631G → R in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_04297786K → T. Corresponds to variant dbSNP:rs10281525Ensembl.1
Natural variantiVAR_064721114F → L Found in a renal cell carcinoma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs555587403Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0333551 – 26MGQDA…YLLLF → MWLKVFTTFLSFAT in isoform 2. 2 PublicationsAdd BLAST26
Alternative sequenceiVSP_04432226F → FDIVANCLLLRFKLSVSSYE IWKK in isoform 3. 1 Publication1

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_001039372.3 [A8MVW5-1]
NP_001275733.1, NM_001288804.2 [A8MVW5-3]
NP_001275739.1, NM_001288810.2
NP_937794.1, NM_198151.3 [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.5 human [A8MVW5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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
CCDSiCCDS43616.1 [A8MVW5-1]
CCDS5629.1 [A8MVW5-2]
CCDS75632.1 [A8MVW5-3]
RefSeqiNP_001034461.1, NM_001039372.3 [A8MVW5-1]
NP_001275733.1, NM_001288804.2 [A8MVW5-3]
NP_001275739.1, NM_001288810.2
NP_937794.1, NM_198151.3 [A8MVW5-2]
UniGeneiHs.443169

3D structure databases

ProteinModelPortaliA8MVW5
SMRiA8MVW5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128949, 38 interactors
STRINGi9606.ENSP00000377980

PTM databases

iPTMnetiA8MVW5
PhosphoSitePlusiA8MVW5

Proteomic databases

PaxDbiA8MVW5
PRIDEiA8MVW5
ProteomicsDBi2210
2211 [A8MVW5-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000341723; ENSP00000340532; ENSG00000188175 [A8MVW5-2]
ENST00000394468; ENSP00000377980; ENSG00000188175 [A8MVW5-1]
ENST00000453812; ENSP00000390204; ENSG00000188175 [A8MVW5-3]
GeneIDi253012
KEGGihsa:253012
UCSCiuc003uml.5 human [A8MVW5-1]

Organism-specific databases

CTDi253012
EuPathDBiHostDB:ENSG00000188175.9
GeneCardsiHEPACAM2
HGNCiHGNC:27364 HEPACAM2
MIMi614133 gene
neXtProtiNX_A8MVW5
OpenTargetsiENSG00000188175
PharmGKBiPA162390849
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IK28 Eukaryota
ENOG410Z756 LUCA
GeneTreeiENSGT00530000063550
HOGENOMiHOG000263412
HOVERGENiHBG063553
InParanoidiA8MVW5
OMAiGPYGLRV
OrthoDBiEOG091G05OZ
PhylomeDBiA8MVW5
TreeFamiTF331199

Miscellaneous databases

GenomeRNAii253012
PROiPR:A8MVW5
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000188175 Expressed in 84 organ(s), highest expression level in mucosa of sigmoid colon
CleanExiHS_HEPACAM2
ExpressionAtlasiA8MVW5 baseline and differential
GenevisibleiA8MVW5 HS

Family and domain databases

Gene3Di2.60.40.10, 3 hits
InterProiView protein in InterPro
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR003599 Ig_sub
IPR003598 Ig_sub2
SMARTiView protein in SMART
SM00409 IG, 3 hits
SM00408 IGc2, 1 hit
SUPFAMiSSF48726 SSF48726, 3 hits
PROSITEiView protein in PROSITE
PS50835 IG_LIKE, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiHECA2_HUMAN
AccessioniPrimary (citable) accession number: A8MVW5
Secondary accession number(s): B3KTT4
, B4DPJ1, B9EG93, E9PDV5, Q6UXI0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: December 4, 2007
Last modified: November 7, 2018
This is version 101 of the entry and version 1 of the sequence. See 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
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