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Aliases for CEMIP Gene

Aliases for CEMIP Gene

  • Cell Migration Inducing Hyaluronan Binding Protein 2 3
  • Cell Migration Inducing Protein, Hyaluronan Binding 2 3 5
  • KIAA1199 2 3 4
  • Hyaluronan-Binding Protein Involved In Hyaluronan Depolymerization 2 3
  • Colon Cancer Secreted Protein 1 3
  • EC 3.2.1.35 4
  • TMEM2L 3
  • CCSP1 3
  • HYBID 3

External Ids for CEMIP Gene

Previous HGNC Symbols for CEMIP Gene

  • KIAA1199

Previous GeneCards Identifiers for CEMIP Gene

  • GC15P081072

Summaries for CEMIP Gene

GeneCards Summary for CEMIP Gene

CEMIP (Cell Migration Inducing Hyaluronan Binding Protein) is a Protein Coding gene. Diseases associated with CEMIP include nonsyndromic deafness. Among its related pathways are Metabolism and Glycosaminoglycan metabolism. GO annotations related to this gene include hyaluronic acid binding and clathrin heavy chain binding. An important paralog of this gene is PKHD1.

UniProtKB/Swiss-Prot for CEMIP Gene

  • Mediates depolymerization of hyaluronic acid (HA) via the cell membrane-associated clathrin-coated pit endocytic pathway. Binds to hyaluronic acid. Hydrolyzes high molecular weight hyaluronic acid to produce an intermediate-sized product, a process that may occur through rapid vesicle endocytosis and recycling without intracytoplasmic accumulation or digestion in lysosomes. Involved in hyaluronan catabolism in the dermis of the skin and arthritic synovium. Positively regulates epithelial-mesenchymal transition (EMT), and hence tumor cell growth, invasion and cancer dissemination. In collaboration with HSPA5/BIP, promotes cancer cell migration in a calcium and PKC-dependent manner. May be involved in hearing.

Gene Wiki entry for CEMIP Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEMIP Gene

Genomics for CEMIP Gene

Regulatory Elements for CEMIP Gene

Promoters for CEMIP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CEMIP on UCSC Golden Path with GeneCards custom track

Genomic Location for CEMIP Gene

Chromosome:
15
Start:
80,779,343 bp from pter
End:
80,951,776 bp from pter
Size:
172,434 bases
Orientation:
Plus strand

Genomic View for CEMIP Gene

Genes around CEMIP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEMIP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEMIP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEMIP Gene

Proteins for CEMIP Gene

  • Protein details for CEMIP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WUJ3-CEMIP_HUMAN
    Recommended name:
    Cell migration-inducing and hyaluronan-binding protein
    Protein Accession:
    Q8WUJ3
    Secondary Accessions:
    • Q6L9J5
    • Q9H1K5
    • Q9NPN9
    • Q9ULM1

    Protein attributes for CEMIP Gene

    Size:
    1361 amino acids
    Molecular mass:
    152998 Da
    Quaternary structure:
    • Interacts with EPHA2 and ITPR3. Interacts with HSPA5/BIP; the interaction induces calcium leakage from the endoplasmic reticulum and cell migration. Interacts with clathrin heavy chain/CLTC.

    Alternative splice isoforms for CEMIP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CEMIP Gene

Proteomics data for CEMIP Gene at MOPED

Post-translational modifications for CEMIP Gene

  • N-glycosylated; glycosylation is not necessary for HA-binding.
  • Glycosylation at Asn 119, Asn 165, Asn 312, Asn 370, Asn 420, Asn 889, and Asn 921
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CEMIP Gene

Domains & Families for CEMIP Gene

Protein Domains for CEMIP Gene

Suggested Antigen Peptide Sequences for CEMIP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WUJ3

UniProtKB/Swiss-Prot:

CEMIP_HUMAN :
  • The signal sequence is essential in mediating its proper translocation, hyaluronic acid (HA) degradation activity and secretion.
  • Belongs to the TMEM2 family.
  • Contains 4 PbH1 repeats.
Domain:
  • The signal sequence is essential in mediating its proper translocation, hyaluronic acid (HA) degradation activity and secretion.
  • Contains 1 G8 domain.
Family:
  • Belongs to the TMEM2 family.
Similarity:
  • Contains 4 PbH1 repeats.
genes like me logo Genes that share domains with CEMIP: view

No data available for Gene Families for CEMIP Gene

Function for CEMIP Gene

Molecular function for CEMIP Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Random hydrolysis of (1->4)-linkages between N-acetyl-beta-D-glucosamine and D-glucuronate residues in hyaluronate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activity is up-regulated by histamine.
UniProtKB/Swiss-Prot Function:
Mediates depolymerization of hyaluronic acid (HA) via the cell membrane-associated clathrin-coated pit endocytic pathway. Binds to hyaluronic acid. Hydrolyzes high molecular weight hyaluronic acid to produce an intermediate-sized product, a process that may occur through rapid vesicle endocytosis and recycling without intracytoplasmic accumulation or digestion in lysosomes. Involved in hyaluronan catabolism in the dermis of the skin and arthritic synovium. Positively regulates epithelial-mesenchymal transition (EMT), and hence tumor cell growth, invasion and cancer dissemination. In collaboration with HSPA5/BIP, promotes cancer cell migration in a calcium and PKC-dependent manner. May be involved in hearing.
UniProtKB/Swiss-Prot Induction:
Up-regulated by histamine. Up-regulated by the adapter protein complex 1 (AP-1) and NF-kappaB/RELA. Down-regulated by transforming growth factor TGFB1.

Enzyme Numbers (IUBMB) for CEMIP Gene

Gene Ontology (GO) - Molecular Function for CEMIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032050 clathrin heavy chain binding IDA 23509262
genes like me logo Genes that share ontologies with CEMIP: view
genes like me logo Genes that share phenotypes with CEMIP: view

Animal Model Products

miRNA for CEMIP Gene

miRTarBase miRNAs that target CEMIP

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CEMIP Gene

Localization for CEMIP Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEMIP Gene

Nucleus. Cytoplasm. Endoplasmic reticulum. Cell membrane. Membrane, clathrin-coated pit. Secreted. Note=Retained in the endoplasmic reticulum (ER) in a HSPA5/BIP-dependent manner. Colocalized with clathrin heavy chain/CLTC in clathrin-coated vesicles. Strongly detected in the cytoplasm of breast carcinoma cells, whereas poorly detected in adjacent normal epithelial cells, stromal cells, or benign breast tissues. Localized in the nucleus and cytoplasm of colon adenocarcinomas.

Gene Ontology (GO) - Cellular Components for CEMIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005905 coated pit IEA --
GO:0030665 clathrin-coated vesicle membrane IDA 23509262
genes like me logo Genes that share ontologies with CEMIP: view

No data available for Subcellular locations from COMPARTMENTS for CEMIP Gene

Pathways & Interactions for CEMIP Gene

genes like me logo Genes that share pathways with CEMIP: view

Interacting Proteins for CEMIP Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000220244%0d%0a9606.ENSP00000317128%0d%0a9606.ENSP00000356000%0d%0a
Selected Interacting proteins: Q8WUJ3-CEMIP_HUMAN ENSP00000220244 for CEMIP Gene via I2D STRING

Gene Ontology (GO) - Biological Process for CEMIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007605 sensory perception of sound IMP 14577002
GO:0010800 positive regulation of peptidyl-threonine phosphorylation IDA 23990668
GO:0030203 glycosaminoglycan metabolic process TAS --
GO:0030212 hyaluronan metabolic process TAS --
GO:0030213 hyaluronan biosynthetic process TAS --
genes like me logo Genes that share ontologies with CEMIP: view

No data available for SIGNOR curated interactions for CEMIP Gene

Drugs & Compounds for CEMIP Gene

No Compound Related Data Available

Transcripts for CEMIP Gene

Alternative Splicing Database (ASD) splice patterns (SP) for CEMIP Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a ·
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

ExUns: 21b ^ 22 ^ 23a · 23b · 23c ^ 24a · 24b · 24c ^ 25a · 25b ^ 26 ^ 27a · 27b · 27c ^ 28 ^ 29
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: - -

Relevant External Links for CEMIP Gene

GeneLoc Exon Structure for
CEMIP
ECgene alternative splicing isoforms for
CEMIP

Expression for CEMIP Gene

mRNA expression in normal human tissues for CEMIP Gene

Protein differential expression in normal tissues from HIPED for CEMIP Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (33.3), Bone marrow stromal cell (14.2), Plasma (12.5), and Pancreas (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CEMIP Gene



mRNA Expression by UniProt/SwissProt for CEMIP Gene

Q8WUJ3-CEMIP_HUMAN
Tissue specificity: Expressed in dermal and in synovial fibroblasts. Strongly expressed in gastric cancers compared with the paired normal tissues. Strongly expressed in both ductal carcinoma and invasive breast cancer cells compared with benign epithelial cells (at protein level). Strongly expressed in brain, placenta, prostate, breast, lung and testis. Expressed in fibroblasts, epithelial cells and cancer cells. In ear, it is specifically expressed in inner ear. Expressed in cochlea and vestibule tissues. Strongly expressed in gastric cancers compared with the paired normal tissues. Strongly expressed in colon adenocarcinomas compared with normal colonic mucosas. Strongly expressed in breast cancer as compared to normal breast tissue.
genes like me logo Genes that share expression patterns with CEMIP: view

Protein tissue co-expression partners for CEMIP Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for CEMIP Gene

Orthologs for CEMIP Gene

This gene was present in the common ancestor of chordates.

Orthologs for CEMIP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIAA1199 35
  • 99.49 (n)
  • 99.34 (a)
KIAA1199 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KIAA1199 36
  • 91 (a)
OneToOne
KIAA1199 35
  • 88.73 (n)
  • 91.4 (a)
dog
(Canis familiaris)
Mammalia KIAA1199 35
  • 87.78 (n)
  • 90.01 (a)
KIAA1199 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cemip 16
9930013L23Rik 35
  • 86.85 (n)
  • 91.26 (a)
9930013L23Rik 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KIAA1199 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA1199 36
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1305254 35
  • 86.02 (n)
  • 90.96 (a)
chicken
(Gallus gallus)
Aves KIAA1199 35
  • 74.79 (n)
  • 76.99 (a)
KIAA1199 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIAA1199 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa1199 35
  • 68.58 (n)
  • 70.05 (a)
zebrafish
(Danio rerio)
Actinopterygii BX897684.1 36
  • 68 (a)
OneToMany
KIAA1199 (2 of 2) 36
  • 59 (a)
OneToMany
Dr.10025 35
LOC100003660 35
  • 67.06 (n)
  • 67.15 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3786 36
  • 6 (a)
OneToMany
Species with no ortholog for CEMIP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CEMIP Gene

ENSEMBL:
Gene Tree for CEMIP (if available)
TreeFam:
Gene Tree for CEMIP (if available)

Paralogs for CEMIP Gene

Paralogs for CEMIP Gene

genes like me logo Genes that share paralogs with CEMIP: view

Variants for CEMIP Gene

Sequence variations from dbSNP and Humsavar for CEMIP Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
VAR_018165 -
VAR_018166 -
rs12441101 - 80,925,683(+) CAGAC(A/G)CTTCA reference, missense
VAR_018168 -
VAR_018169 -

Variation tolerance for CEMIP Gene

Residual Variation Intolerance Score: 3.73% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.94; 59.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CEMIP Gene

HapMap Linkage Disequilibrium report
CEMIP
Human Gene Mutation Database (HGMD)
CEMIP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CEMIP Gene

Disorders for CEMIP Gene

MalaCards: The human disease database

(1) MalaCards diseases for CEMIP Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
nonsyndromic deafness
  • nonsyndromic hearing loss
- elite association - COSMIC cancer census association via MalaCards
Search CEMIP in MalaCards View complete list of genes associated with diseases

Relevant External Links for CEMIP

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CEMIP
genes like me logo Genes that share disorders with CEMIP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CEMIP Gene

Publications for CEMIP Gene

  1. Upregulation of the KIAA1199 gene is associated with cellular mortality. (PMID: 16157444) Michishita E. … Horikawa I. (Cancer Lett. 2006) 2 3 4 67
  2. KIAA1199 and its biological role in human cancer and cancer cells (Review). (PMID: 24573670) Zhang Y. … Jiang W.G. (Oncol. Rep. 2014) 2 3
  3. Mutations in the gene encoding KIAA1199 protein, an inner-ear protein expressed in Deiters' cells and the fibrocytes, as the cause of nonsyndromic hearing loss. (PMID: 14577002) Abe S. … Nakamura Y. (J. Hum. Genet. 2003) 2 3
  4. N-Terminal signal sequence is required for cellular trafficking and hyaluronan-depolymerization of KIAA1199. (PMID: 24269685) Yoshida H. … Inoue S. (FEBS Lett. 2014) 3
  5. KIAA1199 interacts with glycogen phosphorylase kinase I^-subunit (PHKB) to promote glycogen breakdown and cancer cell survival. (PMID: 25051373) Terashima M. … Nishio K. (Oncotarget 2014) 3

Products for CEMIP Gene

Sources for CEMIP Gene

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