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

    Gene ID: 57214, updated on 28-Oct-2024

    Summary

    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, Oct 2024]
    Expression
    Biased expression in endometrium (RPKM 32.4), appendix (RPKM 6.2) and 5 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

    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)

    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_001293298.2NP_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:141303
      PANDER_like_TMEM2; PANDER-like domain of the transmembrane protein TMEM2
      cd13941
      Location:12051361
      PANDER_like_KIAA1199; PANDER-like domain of KIAA1199 and similar proteins
      pfam10162
      Location:46165
      G8; G8 domain
      pfam13330
      Location:325403
      Mucin2_WxxW; Mucin-2 protein WxxW repeating region
    2. NM_001293304.2NP_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:141303
      PANDER_like_TMEM2; PANDER-like domain of the transmembrane protein TMEM2
      cd13941
      Location:12051361
      PANDER_like_KIAA1199; PANDER-like domain of KIAA1199 and similar proteins
      pfam10162
      Location:46165
      G8; G8 domain
      pfam13330
      Location:325403
      Mucin2_WxxW; Mucin-2 protein WxxW repeating region
    3. NM_018689.3NP_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:141303
      PANDER_like_TMEM2; PANDER-like domain of the transmembrane protein TMEM2
      cd13941
      Location:12051361
      PANDER_like_KIAA1199; PANDER-like domain of KIAA1199 and similar proteins
      pfam10162
      Location:46165
      G8; G8 domain
      pfam13330
      Location:325403
      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_047432894.1XP_047288850.1  cell migration-inducing and hyaluronan-binding protein isoform X1

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

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

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

      UniProtKB/Swiss-Prot
      Q6L9J5, Q8WUJ3, Q9H1K5, Q9NPN9, Q9ULM1
    5. XM_047432896.1XP_047288852.1  cell migration-inducing and hyaluronan-binding protein isoform X1

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

    7. XM_047432898.1XP_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_054378509.1XP_054234484.1  cell migration-inducing and hyaluronan-binding protein isoform X1

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

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

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

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

      UniProtKB/Swiss-Prot
      Q6L9J5, Q8WUJ3, Q9H1K5, Q9NPN9, Q9ULM1
    6. XM_054378508.1XP_054234483.1  cell migration-inducing and hyaluronan-binding protein isoform X1

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