SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q14CZ8

- HECAM_HUMAN

UniProt

Q14CZ8 - HECAM_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein
Hepatocyte cell adhesion molecule
Gene
HEPACAM
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Involved in regulating cell motility and cell-matrix interactions. May inhibit cell growth through suppression of cell proliferation.2 Publications

GO - Biological processi

  1. cell adhesion Source: UniProtKB-KW
  2. cell cycle arrest Source: UniProtKB-KW
  3. cellular protein localization Source: Ensembl
  4. regulation of growth Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Cell adhesion, Cell cycle, Growth arrest, Growth regulation

Protein family/group databases

MEROPSiI43.001.

Names & Taxonomyi

Protein namesi
Recommended name:
Hepatocyte cell adhesion molecule
Short name:
Protein hepaCAM
Gene namesi
Name:HEPACAM
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:26361. HEPACAM.

Subcellular locationi

Cytoplasm. Membrane; Single-pass type I membrane protein; Cytoplasmic side
Note: In MCF-7 breast carcinoma and hepatic Hep 3B2.1-7 and Hep-G2 cell lines, localization of HEPACAM is cell density-dependent. In well spread cells, localized to punctate structures in the perinuclear membrane, cytoplasm, and at cell surface of protusions. In confluent cells, localized predominantly to the cytoplasmic membrane, particularly in areas of cell-cell contacts. Colocalizes with CDH1.2 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini34 – 240207Extracellular Reviewed prediction
Add
BLAST
Transmembranei241 – 26121Helical; Reviewed prediction
Add
BLAST
Topological domaini262 – 416155Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. axon Source: MGI
  2. cell-cell junction Source: MGI
  3. cytoplasm Source: UniProtKB-SubCell
  4. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A) [MIM:613925]: A neurodegenerative disorder characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, and cognitive decline of variable severity. The brain appears swollen on magnetic resonance imaging with white-matter abnormalities and subcortical cysts, in all stages of the disease.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti23 – 231L → H in MLC2A. 1 Publication
VAR_065849
Natural varianti92 – 921R → Q in MLC2A. 1 Publication
VAR_065852
Natural varianti98 – 981R → C in MLC2A. 1 Publication
VAR_065854
Natural varianti148 – 1481P → S in MLC2A. 1 Publication
VAR_065857
Natural varianti196 – 1961S → Y in MLC2A. 1 Publication
VAR_065858
Natural varianti211 – 2111D → N in MLC2A. 1 Publication
VAR_065859
Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B (MLC2B) [MIM:613926]: A neurodegenerative disorder characterized by infantile-onset of macrocephaly and mildly delayed motor development associated with white-matter abnormalities on brain magnetic resonance imaging. The phenotype is milder that MLC2A, with better preserved cerebellar white matter and no subcortical cysts outside the temporal region. On follow-up, patients show normal or almost normal motor function. Some patients have normal intelligence, whereas others have a significant cognitive deficiency.
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti89 – 891G → D in MLC2B. 1 Publication
VAR_065850
Natural varianti89 – 891G → S in MLC2B. 1 Publication
VAR_065851
Natural varianti92 – 921R → W in MLC2B. 1 Publication
VAR_065853
Natural varianti128 – 1281D → N in MLC2B. 1 Publication
VAR_065855
Natural varianti135 – 1351Missing in MLC2B. 1 Publication
VAR_065856
Natural varianti288 – 2881R → C in MLC2B. 1 Publication
VAR_065860

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi613925. phenotype.
613926. phenotype.
Orphaneti2478. Megalencephalic leukoencephalopathy with subcortical cysts.
PharmGKBiPA162390830.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 3333 Reviewed prediction
Add
BLAST
Chaini34 – 416383Hepatocyte cell adhesion molecule
PRO_0000298777Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi35 – 351N-linked (GlcNAc...) Reviewed prediction
Glycosylationi138 – 1381N-linked (GlcNAc...) Reviewed prediction
Glycosylationi167 – 1671N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi168 ↔ 217 By similarity
Glycosylationi189 – 1891N-linked (GlcNAc...) Reviewed prediction

Post-translational modificationi

N-glycosylated.2 Publications

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiQ14CZ8.
PaxDbiQ14CZ8.
PRIDEiQ14CZ8.

PTM databases

PhosphoSiteiQ14CZ8.

Expressioni

Inductioni

Down-regulated in 20 out of 23 of hepatocellular carcinoma (HCC) samples and is undetectable in 5 HCC cell lines tested.1 Publication

Gene expression databases

BgeeiQ14CZ8.
CleanExiHS_HEPACAM.
GenevestigatoriQ14CZ8.

Organism-specific databases

HPAiCAB025486.

Interactioni

Subunit structurei

Homodimer. Dimer formation occurs predominantly through cis interactions on the cell surface. Part of a complex containing MLC1, TRPV4, AQP4 and ATP1B1.2 Publications

Protein-protein interaction databases

STRINGi9606.ENSP00000298251.

Structurei

3D structure databases

ProteinModelPortaliQ14CZ8.
SMRiQ14CZ8. Positions 49-235.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini34 – 142109Ig-like V-type
Add
BLAST
Domaini148 – 23487Ig-like C2-type
Add
BLAST

Domaini

The cytoplasmic domain plays an important role in regulation of cell-matrix adhesion and cell motility.1 Publication

Sequence similaritiesi

Keywords - Domaini

Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG80335.
HOGENOMiHOG000060194.
HOVERGENiHBG107974.
InParanoidiQ14CZ8.
OMAiWKPSKKS.
OrthoDBiEOG71P2B5.
PhylomeDBiQ14CZ8.
TreeFamiTF331199.

Family and domain databases

Gene3Di2.60.40.10. 2 hits.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
IPR013106. Ig_V-set.
[Graphical view]
PfamiPF07686. V-set. 1 hit.
[Graphical view]
SMARTiSM00409. IG. 1 hit.
SM00408. IGc2. 1 hit.
[Graphical view]
PROSITEiPS50835. IG_LIKE. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 11 Publication (identifier: Q14CZ8-1) [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

MKRERGALSR ASRALRLAPF VYLLLIQTDP LEGVNITSPV RLIHGTVGKS    50
ALLSVQYSST SSDRPVVKWQ LKRDKPVTVV QSIGTEVIGT LRPDYRDRIR 100
LFENGSLLLS DLQLADEGTY EVEISITDDT FTGEKTINLT VDVPISRPQV 150
LVASTTVLEL SEAFTLNCSH ENGTKPSYTW LKDGKPLLND SRMLLSPDQK 200
VLTITRVLME DDDLYSCMVE NPISQGRSLP VKITVYRRSS LYIILSTGGI 250
FLLVTLVTVC ACWKPSKRKQ KKLEKQNSLE YMDQNDDRLK PEADTLPRSG 300
EQERKNPMAL YILKDKDSPE TEENPAPEPR SATEPGPPGY SVSPAVPGRS 350
PGLPIRSARR YPRSPARSPA TGRTHSSPPR APSSPGRSRS ASRTLRTAGV 400
HIIREQDEAG PVEISA 416
Length:416
Mass (Da):46,026
Last modified:August 22, 2006 - v1
Checksum:i3CB5111207135F3C
GO
Isoform 21 Publication (identifier: Q14CZ8-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     293-367: ADTLPRSGEQ...ARRYPRSPAR → GELPATQSPI...PSTLSVSVHE
     368-416: Missing.

Note: No experimental confirmation available.

Show »
Length:367
Mass (Da):40,564
Checksum:i375DEF58F3C9725A
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti23 – 231L → H in MLC2A. 1 Publication
VAR_065849
Natural varianti89 – 891G → D in MLC2B. 1 Publication
VAR_065850
Natural varianti89 – 891G → S in MLC2B. 1 Publication
VAR_065851
Natural varianti92 – 921R → Q in MLC2A. 1 Publication
VAR_065852
Natural varianti92 – 921R → W in MLC2B. 1 Publication
VAR_065853
Natural varianti98 – 981R → C in MLC2A. 1 Publication
VAR_065854
Natural varianti128 – 1281D → N in MLC2B. 1 Publication
VAR_065855
Natural varianti135 – 1351Missing in MLC2B. 1 Publication
VAR_065856
Natural varianti148 – 1481P → S in MLC2A. 1 Publication
VAR_065857
Natural varianti196 – 1961S → Y in MLC2A. 1 Publication
VAR_065858
Natural varianti211 – 2111D → N in MLC2A. 1 Publication
VAR_065859
Natural varianti218 – 2181M → V.2 Publications
Corresponds to variant rs10790715 [ dbSNP | Ensembl ].
VAR_034731
Natural varianti288 – 2881R → C in MLC2B. 1 Publication
VAR_065860

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei293 – 36775ADTLP…RSPAR → GELPATQSPIPSTIRSVGCW EKAELGDKENSSAGTLPSDL GASKGKEPEPASLASSHSLP RRHAMPSTLSVSVHE in isoform 2. 1 Publication
VSP_052497Add
BLAST
Alternative sequencei368 – 41649Missing in isoform 2. 1 Publication
VSP_052498Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti2 – 21K → E in AAQ93018. 1 Publication
Sequence conflicti95 – 951Y → S in BAC85486. 1 Publication
Sequence conflicti284 – 2841Q → R in AAQ93018. 1 Publication
Sequence conflicti293 – 2931Missing in CAD39081. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY047587 mRNA. Translation: AAQ93018.1.
AK098396 mRNA. Translation: BAC05297.1.
AK122595 mRNA. Translation: BAC85486.1.
BC104831 mRNA. Translation: AAI04832.1.
BC113562 mRNA. Translation: AAI13563.1.
AL834419 mRNA. Translation: CAD39081.1.
CCDSiCCDS8456.1. [Q14CZ8-1]
RefSeqiNP_689935.2. NM_152722.4. [Q14CZ8-1]
UniGeneiHs.745294.

Genome annotation databases

EnsembliENST00000298251; ENSP00000298251; ENSG00000165478. [Q14CZ8-1]
GeneIDi220296.
KEGGihsa:220296.
UCSCiuc001qbk.3. human. [Q14CZ8-1]
uc001qbl.1. human. [Q14CZ8-2]

Polymorphism databases

DMDMi121945515.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY047587 mRNA. Translation: AAQ93018.1 .
AK098396 mRNA. Translation: BAC05297.1 .
AK122595 mRNA. Translation: BAC85486.1 .
BC104831 mRNA. Translation: AAI04832.1 .
BC113562 mRNA. Translation: AAI13563.1 .
AL834419 mRNA. Translation: CAD39081.1 .
CCDSi CCDS8456.1. [Q14CZ8-1 ]
RefSeqi NP_689935.2. NM_152722.4. [Q14CZ8-1 ]
UniGenei Hs.745294.

3D structure databases

ProteinModelPortali Q14CZ8.
SMRi Q14CZ8. Positions 49-235.
ModBasei Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000298251.

Protein family/group databases

MEROPSi I43.001.

PTM databases

PhosphoSitei Q14CZ8.

Polymorphism databases

DMDMi 121945515.

Proteomic databases

MaxQBi Q14CZ8.
PaxDbi Q14CZ8.
PRIDEi Q14CZ8.

Protocols and materials databases

DNASUi 220296.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000298251 ; ENSP00000298251 ; ENSG00000165478 . [Q14CZ8-1 ]
GeneIDi 220296.
KEGGi hsa:220296.
UCSCi uc001qbk.3. human. [Q14CZ8-1 ]
uc001qbl.1. human. [Q14CZ8-2 ]

Organism-specific databases

CTDi 220296.
GeneCardsi GC11M124789.
GeneReviewsi HEPACAM.
H-InvDB HIX0010231.
HGNCi HGNC:26361. HEPACAM.
HPAi CAB025486.
MIMi 611642. gene.
613925. phenotype.
613926. phenotype.
neXtProti NX_Q14CZ8.
Orphaneti 2478. Megalencephalic leukoencephalopathy with subcortical cysts.
PharmGKBi PA162390830.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG80335.
HOGENOMi HOG000060194.
HOVERGENi HBG107974.
InParanoidi Q14CZ8.
OMAi WKPSKKS.
OrthoDBi EOG71P2B5.
PhylomeDBi Q14CZ8.
TreeFami TF331199.

Miscellaneous databases

GenomeRNAii 220296.
NextBioi 91036.
PROi Q14CZ8.
SOURCEi Search...

Gene expression databases

Bgeei Q14CZ8.
CleanExi HS_HEPACAM.
Genevestigatori Q14CZ8.

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and characterization of hepaCAM, a novel Ig-like cell adhesion molecule suppressed in human hepatocellular carcinoma."
    Moh M.C., Lee L.H., Shen S.
    J. Hepatol. 42:833-841(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, INDUCTION, GLYCOSYLATION.
    Tissue: Liver.
  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 2), VARIANT VAL-218.
    Tissue: Brain.
  3. "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 1), VARIANT VAL-218.
    Tissue: Brain.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 251-416 (ISOFORM 1).
    Tissue: Fetal brain.
  5. "Structural and functional analyses of a novel Ig-like cell adhesion molecule, hepaCAM, in the human breast carcinoma MCF7 cells."
    Moh M.C., Zhang C., Luo C., Lee L.H., Shen S.
    J. Biol. Chem. 280:27366-27374(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBUNIT, SUBCELLULAR LOCATION, TOPOLOGY, DOMAIN, GLYCOSYLATION, PHOSPHORYLATION.
  6. "Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations."
    Lanciotti A., Brignone M.S., Molinari P., Visentin S., De Nuccio C., Macchia G., Aiello C., Bertini E., Aloisi F., Petrucci T.C., Ambrosini E.
    Hum. Mol. Genet. 21:2166-2180(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBUNIT.
  7. "Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism."
    Lopez-Hernandez T., Ridder M.C., Montolio M., Capdevila-Nortes X., Polder E., Sirisi S., Duarri A., Schulte U., Fakler B., Nunes V., Scheper G.C., Martinez A., Estevez R., van der Knaap M.S.
    Am. J. Hum. Genet. 88:422-432(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MLC2A HIS-23; GLN-92; CYS-98; SER-148; TYR-196 AND ASN-211, VARIANTS MLC2B ASP-89; SER-89; TRP-92; ASN-128; LYS-135 DEL AND CYS-288.

Entry informationi

Entry nameiHECAM_HUMAN
AccessioniPrimary (citable) accession number: Q14CZ8
Secondary accession number(s): Q67IP8
, Q6ZWL4, Q8N7I3, Q8ND35
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 21, 2007
Last sequence update: August 22, 2006
Last modified: July 9, 2014
This is version 75 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 11
    Human chromosome 11: 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

Similar proteinsi