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

Gene ID: 57214, updated on 15-Oct-2023

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 transport. Located in clathrin-coated endocytic vesicle; endoplasmic reticulum; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in endometrium (RPKM 32.4), appendix (RPKM 6.2) and 5 other tissues See more
Orthologs
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Genomic context

See CEMIP in Genome Data Viewer
Location:
15q25.1
Exon count:
32
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (80779370..80951771)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (78642698..78815415)
105.20220307 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 umcharacterized 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
  • 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)

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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_2023_10

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