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    CEMIP cell migration inducing hyaluronidase 1 [ Homo sapiens (human) ]

    Gene ID: 57214, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CEMIPprovided by HGNC
    Official Full Name
    cell migration inducing hyaluronidase 1provided by HGNC
    Primary source
    HGNC:HGNC:29213
    See related
    Ensembl:ENSG00000103888 MIM:608366; AllianceGenome:HGNC:29213
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CCSP1; HYBID; CEMIP1; TMEM2L; KIAA1199
    Summary
    Enables several functions, including clathrin heavy chain binding activity; hyaluronic acid binding activity; and hyalurononglucosaminidase activity. Involved in several processes, including hyaluronan catabolic process; positive regulation of protein phosphorylation; and positive regulation of protein targeting to membrane. Located in several cellular components, including clathrin-coated endocytic vesicle; endoplasmic reticulum; and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in endometrium (RPKM 32.4), appendix (RPKM 6.2) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CEMIP in Genome Data Viewer
    Location:
    15q25.1
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (80779370..80951771)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (78642698..78815415)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (81071711..81244112)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 380, pseudogene Neighboring gene Sharpr-MPRA regulatory region 13951 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6733 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6734 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6735 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6732 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9944 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6736 Neighboring gene abhydrolase domain containing 17C, depalmitoylase Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:81041397-81042596 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6737 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:81072233-81072738 Neighboring gene uncharacterized LOC124903539 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:81123292-81123982 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:81142698-81143198 Neighboring gene microRNA 549a Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:81203807-81204322 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:81221049-81222248 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:81244997-81245969 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:81245970-81246941 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:81246942-81247914 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:81258943-81259458 Neighboring gene Sharpr-MPRA regulatory region 7638 Neighboring gene Sharpr-MPRA regulatory region 7655 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:81276040-81276574 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9945 Neighboring gene mesoderm development LRP chaperone Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:81281241-81281855 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:81281856-81282469 Neighboring gene NANOG hESC enhancer GRCh37_chr15:81289897-81290398 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6739 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6740 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6741 Neighboring gene uncharacterized LOC128071545 Neighboring gene microRNA 4514 Neighboring gene talin rod domain containing 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Implication of HYBID (Hyaluronan-Binding Protein Involved in Hyaluronan Depolymerization) in Hyaluronan Degradation by Synovial Fibroblasts in Patients with Knee Osteoarthritis. Shiozawa J, et al. Am J Pathol, 2020 May. PMID 32084364
    2. Discovery and validation of molecular biomarkers for colorectal adenomas and cancer with application to blood testing. LaPointe LC, et al. PLoS One, 2012. PMID 22276102, Free PMC Article
    3. [Expression and clinical significance of KIAA1199 in primary hepatocellular carcinoma]. Gu CJ, et al. Zhonghua Yi Xue Za Zhi, 2018 May 29. PMID 29886655
    4. The emerging role of KIAA1199 in cancer development and therapy. Liu J, et al. Biomed Pharmacother, 2021 Jun. PMID 33773462
    5. Hypoxia promotes colon cancer dissemination through up-regulation of cell migration-inducing protein (CEMIP). Evensen NA, et al. Oncotarget, 2015 Aug 21. PMID 26009875, Free PMC Article

    See all (94) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ALKBH5 regulates paclitaxel resistance in NSCLC via inhibiting CEMIP-mediated EMT.
      Title: ALKBH5 regulates paclitaxel resistance in NSCLC via inhibiting CEMIP-mediated EMT.
    2. CEMIP (HYBID, KIAA1199): structure, function and expression in health and disease.
      Title: CEMIP (HYBID, KIAA1199): structure, function and expression in health and disease.
    3. Human TMEM2 is not a catalytic hyaluronidase, but a regulator of hyaluronan metabolism via HYBID (KIAA1199/CEMIP) and HAS2 expression.
      Title: Human TMEM2 is not a catalytic hyaluronidase, but a regulator of hyaluronan metabolism via HYBID (KIAA1199/CEMIP) and HAS2 expression.
    4. CEMIP-mediated hyaluronan metabolism facilitates SCLC metastasis by activating TLR2/c-Src/ERK1/2 axis.
      Title: CEMIP-mediated hyaluronan metabolism facilitates SCLC metastasis by activating TLR2/c-Src/ERK1/2 axis.
    5. CEMIP promotes small cell lung cancer proliferation by activation of glutamine metabolism via FBXW7/c-Myc-dependent axis.
      Title: CEMIP promotes small cell lung cancer proliferation by activation of glutamine metabolism via FBXW7/c-Myc-dependent axis.
    6. CEMIP, acting as a scaffold protein for bridging GRAF1 and MIB1, promotes colorectal cancer metastasis via activating CDC42/MAPK pathway.
      Title: CEMIP, acting as a scaffold protein for bridging GRAF1 and MIB1, promotes colorectal cancer metastasis via activating CDC42/MAPK pathway.
    7. CEMIP as a prognostic biomarker for cancers: a meta- and bioinformatic analysis.
      Title: CEMIP as a prognostic biomarker for cancers: a meta- and bioinformatic analysis.
    8. Downregulation of CEMIP enhances radiosensitivity by promoting DNA damage and apoptosis in colorectal cancer.
      Title: Downregulation of CEMIP enhances radiosensitivity by promoting DNA damage and apoptosis in colorectal cancer.
    9. Tumor CEMIP drives immune evasion of colorectal cancer via MHC-I internalization and degradation.
      Title: Tumor CEMIP drives immune evasion of colorectal cancer via MHC-I internalization and degradation.
    10. circ-BPTF serves as a miR-486-5p sponge to regulate CEMIP and promotes hypoxic pulmonary arterial smooth muscle cell proliferation in COPD.
      Title: circ-BPTF serves as a miR-486-5p sponge to regulate CEMIP and promotes hypoxic pulmonary arterial smooth muscle cell proliferation in COPD.
    Submit: New GeneRIF Correction See all GeneRIFs (77)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1199

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ER retention sequence binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables clathrin heavy chain binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables hyaluronic acid binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables hyalurononglucosaminidase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables hyalurononglucosaminidase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in hyaluronan biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in hyaluronan catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cell migration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of peptidyl-threonine phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of protein kinase C activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of protein targeting to membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of release of sequestered calcium ion into cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in clathrin-coated endocytic vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in clathrin-coated pit IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in clathrin-coated vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cell migration-inducing and hyaluronan-binding protein
    Names
    cell migration inducing hyaluronan binding protein
    cell migration inducing protein, hyaluronan binding
    colon cancer secreted protein 1
    hyaluronan-binding protein involved in hyaluronan depolymerization
    NP_001280227.1
    NP_001280233.1
    NP_061159.1
    XP_047288849.1
    XP_047288850.1
    XP_047288852.1
    XP_047288853.1
    XP_047288854.1
    XP_047288855.1
    XP_047288856.1
    XP_054234482.1
    XP_054234483.1
    XP_054234484.1
    XP_054234485.1
    XP_054234486.1
    XP_054234487.1
    XP_054234488.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001293298.2 → NP_001280227.1  cell migration-inducing and hyaluronan-binding protein precursor

      See identical proteins and their annotated locations for NP_001280227.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AB103330, AC027808, AL049389, AY581148, DA220969
      Consensus CDS
      CCDS10315.1
      UniProtKB/Swiss-Prot
      Q6L9J5, Q8WUJ3, Q9H1K5, Q9NPN9, Q9ULM1
      Related
      ENSP00000378177.3, ENST00000394685.8
      Conserved Domains (4) summary
      cd13938
      Location:141 → 303
      PANDER_like_TMEM2; PANDER-like domain of the transmembrane protein TMEM2
      cd13941
      Location:1205 → 1361
      PANDER_like_KIAA1199; PANDER-like domain of KIAA1199 and similar proteins
      pfam10162
      Location:46 → 165
      G8; G8 domain
      pfam13330
      Location:325 → 403
      Mucin2_WxxW; Mucin-2 protein WxxW repeating region

    2. NM_001293304.2 → NP_001280233.1  cell migration-inducing and hyaluronan-binding protein precursor

      See identical proteins and their annotated locations for NP_001280233.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AB103330, AC027808, AL049389, AY581149, DA220969
      Consensus CDS
      CCDS10315.1
      UniProtKB/Swiss-Prot
      Q6L9J5, Q8WUJ3, Q9H1K5, Q9NPN9, Q9ULM1
      Related
      ENSP00000348583.5, ENST00000356249.9
      Conserved Domains (4) summary
      cd13938
      Location:141 → 303
      PANDER_like_TMEM2; PANDER-like domain of the transmembrane protein TMEM2
      cd13941
      Location:1205 → 1361
      PANDER_like_KIAA1199; PANDER-like domain of KIAA1199 and similar proteins
      pfam10162
      Location:46 → 165
      G8; G8 domain
      pfam13330
      Location:325 → 403
      Mucin2_WxxW; Mucin-2 protein WxxW repeating region

    3. NM_018689.3 → NP_061159.1  cell migration-inducing and hyaluronan-binding protein precursor

      See identical proteins and their annotated locations for NP_061159.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AB103330, AC027808, AL049389, AY585237, DA220969
      Consensus CDS
      CCDS10315.1
      UniProtKB/Swiss-Prot
      Q6L9J5, Q8WUJ3, Q9H1K5, Q9NPN9, Q9ULM1
      Related
      ENSP00000220244.3, ENST00000220244.7
      Conserved Domains (4) summary
      cd13938
      Location:141 → 303
      PANDER_like_TMEM2; PANDER-like domain of the transmembrane protein TMEM2
      cd13941
      Location:1205 → 1361
      PANDER_like_KIAA1199; PANDER-like domain of KIAA1199 and similar proteins
      pfam10162
      Location:46 → 165
      G8; G8 domain
      pfam13330
      Location:325 → 403
      Mucin2_WxxW; Mucin-2 protein WxxW repeating region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      80779370..80951771
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047432894.1 → XP_047288850.1  cell migration-inducing and hyaluronan-binding protein isoform X1

    2. XM_047432897.1 → XP_047288853.1  cell migration-inducing and hyaluronan-binding protein isoform X1

    3. XM_047432893.1 → XP_047288849.1  cell migration-inducing and hyaluronan-binding protein isoform X1

    4. XM_047432900.1 → XP_047288856.1  cell migration-inducing and hyaluronan-binding protein isoform X2

      UniProtKB/Swiss-Prot
      Q6L9J5, Q8WUJ3, Q9H1K5, Q9NPN9, Q9ULM1

    5. XM_047432896.1 → XP_047288852.1  cell migration-inducing and hyaluronan-binding protein isoform X1

    6. XM_047432899.1 → XP_047288855.1  cell migration-inducing and hyaluronan-binding protein isoform X1

    7. XM_047432898.1 → XP_047288854.1  cell migration-inducing and hyaluronan-binding protein isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      78642698..78815415
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378509.1 → XP_054234484.1  cell migration-inducing and hyaluronan-binding protein isoform X1

    2. XM_054378512.1 → XP_054234487.1  cell migration-inducing and hyaluronan-binding protein isoform X1

    3. XM_054378507.1 → XP_054234482.1  cell migration-inducing and hyaluronan-binding protein isoform X1

    4. XM_054378510.1 → XP_054234485.1  cell migration-inducing and hyaluronan-binding protein isoform X1

    5. XM_054378513.1 → XP_054234488.1  cell migration-inducing and hyaluronan-binding protein isoform X2

      UniProtKB/Swiss-Prot
      Q6L9J5, Q8WUJ3, Q9H1K5, Q9NPN9, Q9ULM1

    6. XM_054378508.1 → XP_054234483.1  cell migration-inducing and hyaluronan-binding protein isoform X1

    7. XM_054378511.1 → XP_054234486.1  cell migration-inducing and hyaluronan-binding protein isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WUJ3.2 GenPept UniProtKB/Swiss-Prot:Q8WUJ3

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