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

Gene ID: 8190, updated on 5-Mar-2024

Summary

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, Apr 2022]
Expression
Biased expression in stomach (RPKM 20.5), salivary gland (RPKM 4.7) and 2 other tissues See more
Orthologs
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Genomic context

Location:
19q13.2
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (40775160..40777490)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (43595839..43598169)
105.20220307 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

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
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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Readthrough MIA-RAB4B

Readthrough gene: MIA-RAB4B, Included gene: RAB4B

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

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_001202553.2NP_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:33130
    MIA; Melanoma Inhibitory Activity protein
  2. NM_006533.4NP_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:33130
    MIA; Melanoma Inhibitory Activity protein

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_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)