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    MIA MIA SH3 domain containing [ Homo sapiens (human) ]

    Gene ID: 8190, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MIAprovided by HGNC
    Official Full Name
    MIA SH3 domain containingprovided by HGNC
    Primary source
    HGNC:HGNC:7076
    See related
    Ensembl:ENSG00000261857 MIM:601340; AllianceGenome:HGNC:7076
    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
    MIA1; CD-RAP
    Summary
    Predicted to enable growth factor activity. Predicted to be involved in extracellular matrix organization. Predicted to act upstream of or within cell-matrix adhesion. Predicted to be located in extracellular space. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in stomach (RPKM 20.5), salivary gland (RPKM 4.7) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MIA in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (40775160..40777490)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (43595839..43598169)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (41281065..41283395)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41249947-41250913 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41250914-41251879 Neighboring gene actin maturation protease Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41255833-41256458 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10646 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14665 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41257087-41257714 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41257715-41258342 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14666 Neighboring gene small nuclear ribonucleoprotein polypeptide A Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10647 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10648 Neighboring gene MIA-RAB4B readthrough (NMD candidate) Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14667 Neighboring gene RAB4B-EGLN2 readthrough (NMD candidate) Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41285223-41285754 Neighboring gene RAB4B, member RAS oncogene family Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10649 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10650 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41306857-41307531 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:41307710-41308450 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14668 Neighboring gene egl-9 family hypoxia inducible factor 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:41314255-41314754

    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 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. Functional role of MIA in melanocytes and early development of melanoma. Poser I, et al. Oncogene, 2004 Aug 12. PMID 15208686
    2. Receiver operating characteristic analysis: calculation for the marker 'melanoma inhibitory activity' in metastatic uveal melanoma patients. Klingenstein A, et al. Melanoma Res, 2011 Aug. PMID 21540751
    3. Immunogenicity of SEREX-identified antigens and disease outcome in pancreatic cancer. Heller A, et al. Cancer Immunol Immunother, 2010 Sep. PMID 20514540, Free PMC Article
    4. Heterogeneous transition metal-based fluorescence polarization (HTFP) assay for probing protein interactions. Riechers A, et al. Biotechniques, 2009 Oct. PMID 19852767
    5. Processing of MIA protein during melanoma cell migration. Schmidt J, et al. Int J Cancer, 2009 Oct 1. PMID 19521988

    See all (56) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The value of melanoma inhibitory activity and LDH with melanoma patients in a Chinese population.
      Title: The value of melanoma inhibitory activity and LDH with melanoma patients in a Chinese population.
    2. The clinical significance of MIA gene in tumorigenesis of lung cancer.
      Title: The clinical significance of MIA gene in tumorigenesis of lung cancer.
    3. MIA is a regulator of cellular senescence in human and murine melanocytes.
      Title: Role of melanoma inhibitory activity in melanocyte senescence.
    4. the molecular basis of the interaction of MIA with the Hep II domain of fibronectin based on nuclear magnetic resonance spectroscopic binding assays.
      Title: Human melanoma inhibitory protein binds to the FN12-14 Hep II domain of fibronectin.
    5. The frequency of MIA gene family expression was higher among squamous cell carcinomas than among other tumor types subjected to screening. MIA gene family staining was observed frequently in esophageal and lung cancers associated with nodal and/or distant metastasis. In cervical cancers, MIA and TANGO immunostaining also correlated with tumor progression and metastasis.
      Title: A comprehensive expression analysis of the MIA gene family in malignancies: MIA gene family members are novel, useful markers of esophageal, lung, and cervical squamous cell carcinoma.
    6. Our results suggest that MIA-STOX2 signaling may be a useful diagnostic and therapeutic target in oral squamous cell carcinoma
      Title: Storkhead box 2 and melanoma inhibitory activity promote oral squamous cell carcinoma progression.
    7. MIA had a slightly superior sensitivity to detect progressive disease compared to S100 and seems to be more useful in monitoring of patients with metastatic melanoma receiving immunotherapy
      Title: Comparison of the Serum Tumor Markers S100 and Melanoma-inhibitory Activity (MIA) in the Monitoring of Patients with Metastatic Melanoma Receiving Vaccination Immunotherapy with Dendritic Cells.
    8. real-time RT-PCR assays showed that expressions of MIA and MIA-RAB4B located 35 kb upstream of the deletion, were up-regulated in the polyps compared to the matched mucosa of the proband. MIA-RAB4B, the read-through long non-coding RNA (lncRNA), RAB4B, PIM2 and TAOK1 share common binding site of a microRNA, miR-24, in their 3'UTRs
      Title: Chromosome 19q13 disruption alters expressions of CYP2A7, MIA and MIA-RAB4B lncRNA and contributes to FAP-like phenotype in APC mutation-negative familial colorectal cancer patients.
    9. The effects of MIA/CD-RAP on transcriptional regulation in chondrocytes, through the regulation of p54(nrb) via YBX1 contributes to the understanding of chondrogenesis.
      Title: YBX1 is a modulator of MIA/CD-RAP-dependent chondrogenesis.
    10. data provide evidence for a critical role of SOX10 in melanoma cell invasion through the regulation of MIA and highlight its role as a therapeutic target in melanoma
      Title: SOX10 promotes melanoma cell invasion by regulating melanoma inhibitory activity.
    Submit: New GeneRIF Correction See all GeneRIFs (39)

    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
    A genome-wide association study identifies three new risk loci for Kawasaki disease.
    EBI GWAS Catalog
    Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease.
    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)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat The expression of melanoma inhibitory activity gene (MIA) is upregulated in both Jurkat-Tat101 and Jurkat-Tat72 cells PubMed

    Go to the HIV-1, Human Interaction Database

    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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    Readthrough MIA-RAB4B

    Readthrough gene: MIA-RAB4B, Included gene: RAB4B

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables growth factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular space TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    melanoma-derived growth regulatory protein
    Names
    melanoma inhibitory activity

    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_001202553.2 → NP_001189482.1  melanoma-derived growth regulatory protein precursor

      See identical proteins and their annotated locations for NP_001189482.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC020945, BM715936, BM856478, BQ681978
      Consensus CDS
      CCDS12566.1
      UniProtKB/Swiss-Prot
      Q16674, Q6FHV3
      UniProtKB/TrEMBL
      B4DXV6, W4VSR3
      Related
      ENSP00000470129.1, ENST00000594436.5
      Conserved Domains (1) summary
      cd11890
      Location:33 → 130
      MIA; Melanoma Inhibitory Activity protein

    2. NM_006533.4 → NP_006524.1  melanoma-derived growth regulatory protein precursor

      See identical proteins and their annotated locations for NP_006524.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      BC005910, BM856478
      Consensus CDS
      CCDS12566.1
      UniProtKB/Swiss-Prot
      Q16674, Q6FHV3
      UniProtKB/TrEMBL
      B4DXV6, W4VSR3
      Related
      ENSP00000263369.2, ENST00000263369.4
      Conserved Domains (1) summary
      cd11890
      Location:33 → 130
      MIA; Melanoma Inhibitory Activity protein

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      40775160..40777490
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      43595839..43598169
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16674.1 GenPept UniProtKB/Swiss-Prot:Q16674

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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