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

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, 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

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_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ALKBH5 regulates paclitaxel resistance in NSCLC via inhibiting CEMIP-mediated EMT.
Title: ALKBH5 regulates paclitaxel resistance in NSCLC via inhibiting CEMIP-mediated EMT.
CEMIP (HYBID, KIAA1199): structure, function and expression in health and disease.
Title: CEMIP (HYBID, KIAA1199): structure, function and expression in health and disease.
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.
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.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-148471 (e-PCR)
- UniSTS:176411

RH103235 (e-PCR)
- UniSTS:97567

D15S211 (e-PCR), detects polymorphism
- UniSTS:4153

SHGC-2207 (e-PCR)
- UniSTS:173387

RH48315 (e-PCR)
- UniSTS:43595

D15S667 (e-PCR)
- UniSTS:20816

D15S1037 (e-PCR)
- UniSTS:65656

RH123171 (e-PCR)
- UniSTS:135552

D15S551 (e-PCR)
- UniSTS:73089

SHGC-149480 (e-PCR)
- UniSTS:177030

RH78992 (e-PCR)
- UniSTS:63878

G10241 (e-PCR)
- UniSTS:65945

D15S1047 (e-PCR), detects polymorphism
- UniSTS:9371

SHGC-31169 (e-PCR)
- UniSTS:76708

SHGC-148291 (e-PCR)
- UniSTS:176303

RH136636 (e-PCR)
- UniSTS:209644

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

EC 3.2.1.35

NP_001280233.1

EC 3.2.1.35

NP_061159.1

EC 3.2.1.35

XP_047288849.1

EC 3.2.1.35

XP_047288850.1

EC 3.2.1.35

XP_047288852.1

EC 3.2.1.35

XP_047288853.1

EC 3.2.1.35

XP_047288854.1

EC 3.2.1.35

XP_047288855.1

EC 3.2.1.35

XP_047288856.1

EC 3.2.1.35

XP_054234482.1

EC 3.2.1.35

XP_054234483.1

EC 3.2.1.35

XP_054234484.1

EC 3.2.1.35

XP_054234485.1

EC 3.2.1.35

XP_054234486.1

EC 3.2.1.35

XP_054234487.1

EC 3.2.1.35

XP_054234488.1

EC 3.2.1.35

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)

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
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
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

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

80779370..80951771

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047432894.1 → XP_047288850.1 cell migration-inducing and hyaluronan-binding protein isoform X1
XM_047432897.1 → XP_047288853.1 cell migration-inducing and hyaluronan-binding protein isoform X1
XM_047432893.1 → XP_047288849.1 cell migration-inducing and hyaluronan-binding protein isoform X1
XM_047432900.1 → XP_047288856.1 cell migration-inducing and hyaluronan-binding protein isoform X2

UniProtKB/Swiss-Prot

Q6L9J5, Q8WUJ3, Q9H1K5, Q9NPN9, Q9ULM1
XM_047432896.1 → XP_047288852.1 cell migration-inducing and hyaluronan-binding protein isoform X1
XM_047432899.1 → XP_047288855.1 cell migration-inducing and hyaluronan-binding protein isoform X1
XM_047432898.1 → XP_047288854.1 cell migration-inducing and hyaluronan-binding protein isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060939.1 Alternate T2T-CHM13v2.0

Range

78642698..78815415

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054378509.1 → XP_054234484.1 cell migration-inducing and hyaluronan-binding protein isoform X1
XM_054378512.1 → XP_054234487.1 cell migration-inducing and hyaluronan-binding protein isoform X1
XM_054378507.1 → XP_054234482.1 cell migration-inducing and hyaluronan-binding protein isoform X1
XM_054378510.1 → XP_054234485.1 cell migration-inducing and hyaluronan-binding protein isoform X1
XM_054378513.1 → XP_054234488.1 cell migration-inducing and hyaluronan-binding protein isoform X2

UniProtKB/Swiss-Prot

Q6L9J5, Q8WUJ3, Q9H1K5, Q9NPN9, Q9ULM1
XM_054378508.1 → XP_054234483.1 cell migration-inducing and hyaluronan-binding protein isoform X1
XM_054378511.1 → XP_054234486.1 cell migration-inducing and hyaluronan-binding protein isoform X1