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Q14CZ8

- HECAM_HUMAN

UniProt

Q14CZ8 - HECAM_HUMAN

Protein

Hepatocyte cell adhesion molecule

Gene

HEPACAM

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 76 (01 Oct 2014)
      Sequence version 1 (22 Aug 2006)
      Previous versions | rss
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    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

    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:HEPACAMImported
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:26361. HEPACAM.

    Subcellular locationi

    Cytoplasm 2 Publications. Membrane; Single-pass type I membrane protein; Cytoplasmic side 2 Publications
    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.

    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

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.1 Publication
    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 – 3333Sequence AnalysisAdd
    BLAST
    Chaini34 – 416383Hepatocyte cell adhesion moleculeSequence AnalysisPRO_0000298777Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi35 – 351N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi138 – 1381N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi167 – 1671N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi168 ↔ 217PROSITE-ProRule annotation
    Glycosylationi189 – 1891N-linked (GlcNAc...)Sequence Analysis

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini34 – 240207ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini262 – 416155CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei241 – 26121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

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

    Domaini

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

    Sequence similaritiesi

    Contains 1 Ig-like V-type (immunoglobulin-like) domain.Sequence Analysis

    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.Curated

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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti2 – 21K → E in AAQ93018. (PubMed:15885354)Curated
    Sequence conflicti95 – 951Y → S in BAC85486. (PubMed:14702039)Curated
    Sequence conflicti284 – 2841Q → R in AAQ93018. (PubMed:15885354)Curated
    Sequence conflicti293 – 2931Missing in CAD39081. (PubMed:17974005)Curated

    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 PublicationVSP_052497Add
    BLAST
    Alternative sequencei368 – 41649Missing in isoform 2. 1 PublicationVSP_052498Add
    BLAST

    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...
    MobiDBi 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

    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: LiverImported.
    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: BrainImported.
    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: BrainImported.
    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: October 1, 2014
    This is version 76 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