MACC1 MET transcriptional regulator MACC1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MACC1provided by HGNC
Official Full Name: MET transcriptional regulator MACC1provided by HGNC
Primary source: HGNC:HGNC:30215
See related: Ensembl:ENSG00000183742 MIM:612646; AllianceGenome:HGNC:30215
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: 7A5; SH3BP4L
Summary: MACC1 is a key regulator of the hepatocyte growth factor (HGF; MIM 142409)-HGF receptor (HGFR, or MET; MIM 164860) pathway, which is involved in cellular growth, epithelial-mesenchymal transition, angiogenesis, cell motility, invasiveness, and metastasis. Expression of MACC1 in colon cancer (MIM 114500) specimens is an independent prognostic indicator for metastasis formation and metastasis-free survival (Stein et al., 2009 [PubMed 19098908]).[supplied by OMIM, Mar 2009]
Expression: Broad expression in small intestine (RPKM 6.2), duodenum (RPKM 5.1) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p21.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (20134655..20217384, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (20268945..20351674, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (20174278..20257007, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

COX19 Is a New Target of MACC1 and Promotes Colorectal Cancer Progression by Regulating Copper Transport in Mitochondria.
Title: COX19 Is a New Target of MACC1 and Promotes Colorectal Cancer Progression by Regulating Copper Transport in Mitochondria.
Calcium-binding protein S100P is a new target gene of MACC1, drives colorectal cancer metastasis and serves as a prognostic biomarker.
Title: Calcium-binding protein S100P is a new target gene of MACC1, drives colorectal cancer metastasis and serves as a prognostic biomarker.
Circ_0002577/miR-126-5p/MACC1 axis promotes endometrial carcinoma progression by regulation of proliferation, migration, invasion, and apoptosis of endometrial carcinoma cells.
Title: Circ_0002577/miR-126-5p/MACC1 axis promotes endometrial carcinoma progression by regulation of proliferation, migration, invasion, and apoptosis of endometrial carcinoma cells.
Obesity, colorectal cancer and MACC1 expression: A possible novel molecular association.
Title: Obesity, colorectal cancer and MACC1 expression: A possible novel molecular association.
The Relationship between MACC1/c-Met/Cyclin D1 Axis Expression and Prognosis in ESCC.
Title: The Relationship between MACC1/c-Met/Cyclin D1 Axis Expression and Prognosis in ESCC.
MACC1 regulates the AKT/STAT3 signaling pathway to induce migration, invasion, cancer stemness, and suppress apoptosis in cervical cancer cells.
Title: MACC1 regulates the AKT/STAT3 signaling pathway to induce migration, invasion, cancer stemness, and suppress apoptosis in cervical cancer cells.
Long Noncoding RNA LINC01703 Exacerbates the Malignant Properties of Non-Small Cell Lung Cancer by Upregulating MACC1 in a MicroRNA-605-3p-Mediated Manner.
Title: Long Noncoding RNA LINC01703 Exacerbates the Malignant Properties of Non-Small Cell Lung Cancer by Upregulating MACC1 in a MicroRNA-605-3p-Mediated Manner.
Association of MACC1 expression with lymphatic metastasis in colorectal cancer: A nested case-control study.
Title: Association of MACC1 expression with lymphatic metastasis in colorectal cancer: A nested case-control study.
circ_0101802 functions as a sponge of miR-1236-3p to facilitate the proliferation, migration and invasion of colorectal cancer via regulating MACC1.
Title: circ_0101802 functions as a sponge of miR-1236-3p to facilitate the proliferation, migration and invasion of colorectal cancer via regulating MACC1.
Insulin-like Growth Factor Binding Protein-2 (IGFBP2) Is a Key Molecule in the MACC1-Mediated Platelet Communication and Metastasis of Colorectal Cancer Cells.
Title: Insulin-like Growth Factor Binding Protein-2 (IGFBP2) Is a Key Molecule in the MACC1-Mediated Platelet Communication and Metastasis of Colorectal Cancer Cells.

Submit: New GeneRIF Correction See all GeneRIFs (138)

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
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See studies and variants in dbVar

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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

D11S2921 (e-PCR)
- UniSTS:152074

D7S2551 (e-PCR)
- UniSTS:61216

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

GDB:1317646 (e-PCR)
- UniSTS:51524

SHGC-152029 (e-PCR)
- UniSTS:184741

EST15F1 (e-PCR)
- UniSTS:263129

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 positive regulation of cell division	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: metastasis-associated in colon cancer protein 1

Names: MACC1, MET transcriptional regulator; SH3 domain-containing protein 7a5; metastasis associated in colon cancer 1; putative binding protein 7a5

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.