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

Gene ID: 57214, updated on 5-Mar-2019

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
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; TMEM2L; KIAA1199
Expression
Biased expression in endometrium (RPKM 32.4), appendix (RPKM 6.2) and 5 other tissues See more
Orthologs

Genomic context

See CEMIP in Genome Data Viewer
Location:
15q25.1
Exon count:
30
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (80779343..80951771)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (81071712..81244112)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 380, pseudogene Neighboring gene abhydrolase domain containing 17C Neighboring gene microRNA 549a Neighboring gene uncharacterized LOC107984749 Neighboring gene mesoderm development LRP chaperone Neighboring gene microRNA 4514 Neighboring gene talin rod domain containing 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Glycosaminoglycan metabolism, organism-specific biosystem (from REACTOME)
    Glycosaminoglycan metabolism, organism-specific biosystemGlycosaminoglycans (GAGs) are long, unbranched polysaccharides containing a repeating disaccharide unit composed of a hexosamine (either N-acetylgalactosamine (GalNAc) or N-acetylglucosamine (GlcNAc)...
  • Hyaluronan biosynthesis and export, organism-specific biosystem (from REACTOME)
    Hyaluronan biosynthesis and export, organism-specific biosystemHyaluronan (hyaluronic acid, HA) is composed of repeating disaccharide units of glucuronic acid and N-acetylglucosamine [-4GlcAb1-3GlcNAcb1-]. It is synthesized in the cell membrane by adding monosac...
  • Hyaluronan metabolism, organism-specific biosystem (from REACTOME)
    Hyaluronan metabolism, organism-specific biosystemHyaluronan (hyaluronic acid, hyaluronate or HA) is an anionic glycosaminoglycan (GAG) distributed widely throughout connective, epithelial, and neural tissues and most abundant in the extracellular m...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1199

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ER retention sequence binding IDA
Inferred from Direct Assay
more info
PubMed 
clathrin heavy chain binding IDA
Inferred from Direct Assay
more info
PubMed 
hyaluronic acid binding IDA
Inferred from Direct Assay
more info
PubMed 
hyalurononglucosaminidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
hyalurononglucosaminidase activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
clathrin-coated endocytic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
clathrin-coated pit IEA
Inferred from Electronic Annotation
more info
 
clathrin-coated vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IMP
Inferred from Mutant Phenotype
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
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_024305769.1

NCBI Reference Sequences (RefSeq)

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
    Q8WUJ3
    Related
    ENSP00000378177.3, ENST00000394685.7
    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:324403
    Mucin2_WxxW; Mucin-2 protein WxxW repeating region
  2. NM_001293304.1NP_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, AL049389, AY581149, DA220969
    Consensus CDS
    CCDS10315.1
    UniProtKB/Swiss-Prot
    Q8WUJ3
    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:324403
    Mucin2_WxxW; Mucin-2 protein WxxW repeating region
  3. NM_018689.2NP_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, AL049389, AY585237, DA220969
    Consensus CDS
    CCDS10315.1
    UniProtKB/Swiss-Prot
    Q8WUJ3
    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:324403
    Mucin2_WxxW; Mucin-2 protein WxxW repeating region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    80779343..80951771
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450001.1XP_024305769.1  cell migration-inducing and hyaluronan-binding protein isoform X1

    Conserved Domains (4) summary
    cd13938
    Location:176338
    PANDER_like_TMEM2; PANDER-like domain of the transmembrane protein TMEM2
    cd13941
    Location:12401396
    PANDER_like_KIAA1199; PANDER-like domain of KIAA1199 and similar proteins
    pfam10162
    Location:81200
    G8; G8 domain
    pfam13330
    Location:359438
    Mucin2_WxxW; Mucin-2 protein WxxW repeating region
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