MFAP4 microfibril associated protein 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MFAP4provided by HGNC
Official Full Name: microfibril associated protein 4provided by HGNC
Primary source: HGNC:HGNC:7035
See related: Ensembl:ENSG00000166482 MIM:600596; AllianceGenome:HGNC:7035
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This gene encodes a protein with similarity to a bovine microfibril-associated protein. The protein has binding specificities for both collagen and carbohydrate. It is thought to be an extracellular matrix protein which is involved in cell adhesion or intercellular interactions. The gene is located within the Smith-Magenis syndrome region. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
Expression: Broad expression in gall bladder (RPKM 378.1), lung (RPKM 320.6) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p11.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (19383445..19387190, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (19331480..19335225, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (19286758..19290503, complement)

Chromosome 17 - NC_000017.11 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?

Microfibril-associated glycoprotein 4 forms octamers that mediate interactions with elastogenic proteins and cells.
Title: Microfibril-associated glycoprotein 4 forms octamers that mediate interactions with elastogenic proteins and cells.
Presence of microfibril associated glycoprotein 4 and type V collagen and the possible absence of fibrillin-1 in bead-like structures in elastofibroma.
Title: Presence of microfibril associated glycoprotein 4 and type V collagen and the possible absence of fibrillin-1 in bead-like structures in elastofibroma.
Tumor-suppressive role of microfibrillar associated protein 4 and its clinical significance as prognostic factor and diagnostic biomarker in hepatocellular carcinoma.
Title: Tumor-suppressive role of microfibrillar associated protein 4 and its clinical significance as prognostic factor and diagnostic biomarker in hepatocellular carcinoma.
Microfibrillar-associated protein 4 in health and disease.
Title: Microfibrillar-associated protein 4 in health and disease.
Exploration of the Important Role of Microfibril-Associated Protein 4 Gene in Oral Squamous Cell Carcinoma.
Title: Exploration of the Important Role of Microfibril-Associated Protein 4 Gene in Oral Squamous Cell Carcinoma.
Relationship between Microfibrillar-Associated Protein 4 Levels and Subclinical Myocardial Damage in Chronic Kidney Disease.
Title: Relationship between Microfibrillar-Associated Protein 4 Levels and Subclinical Myocardial Damage in Chronic Kidney Disease.
Microfibril associated protein 4 (MFAP4) is a carrier of the tumor associated carbohydrate sialyl-Lewis x (sLe(x)) in pancreatic adenocarcinoma.
Title: Microfibril associated protein 4 (MFAP4) is a carrier of the tumor associated carbohydrate sialyl-Lewis x (sLe(x)) in pancreatic adenocarcinoma.
Human Microfibrillar-Associated Protein 4 (MFAP4) Gene Promoter: A TATA-Less Promoter That Is Regulated by Retinol and Coenzyme Q10 in Human Fibroblast Cells.
Title: Human Microfibrillar-Associated Protein 4 (MFAP4) Gene Promoter: A TATA-Less Promoter That Is Regulated by Retinol and Coenzyme Q10 in Human Fibroblast Cells.
The fibrinogen C-terminal domain is seldom C-mannosylated but its C-mannosylation is important for the secretion of microfibril-associated glycoprotein 4.
Title: The fibrinogen C-terminal domain is seldom C-mannosylated but its C-mannosylation is important for the secretion of microfibril-associated glycoprotein 4.
High plasma microfibrillar-associated protein 4 is associated with reduced surgical repair in abdominal aortic aneurysms.
Title: High plasma microfibrillar-associated protein 4 is associated with reduced surgical repair in abdominal aortic aneurysms.

Submit: New GeneRIF Correction See all GeneRIFs (27)

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

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

RH64914 (e-PCR)
- UniSTS:17940

RH80796 (e-PCR)
- UniSTS:87128

MFAP4_7828 (e-PCR)
- UniSTS:466314

RH79913 (e-PCR)
- UniSTS:87462

STS-U29725 (e-PCR)
- UniSTS:72402

D17S1287 (e-PCR)
- UniSTS:153830

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in UV protection	IDA Inferred from Direct Assay more info	PubMed
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cellular response to UV-B	IDA Inferred from Direct Assay more info	PubMed
involved_in elastic fiber assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in elastic fiber assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of collagen metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in supramolecular fiber organization	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
is_active_in collagen-containing extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in collagen-containing extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in elastic fiber	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	HDA more info	PubMed
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in microfibril	IDA Inferred from Direct Assay more info	PubMed
located_in microfibril	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: microfibril-associated glycoprotein 4

Names: microfibrillar associated protein 4

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.

Genomic

NG_027952.1 RefSeqGene

Range

5030..8775

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001198695.2 → NP_001185624.1 microfibril-associated glycoprotein 4 isoform 1 precursor

See identical proteins and their annotated locations for NP_001185624.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC124066, AK293056, AK304528, BQ017631

Consensus CDS

CCDS56023.1

UniProtKB/TrEMBL

K7ES70

Related

ENSP00000378957.2, ENST00000395592.6

Conserved Domains (1) summary

cd00087
Location:60 → 278

FReD; Fibrinogen-related domains (FReDs); C terminal globular domain of fibrinogen. Fibrinogen is involved in blood clotting, being activated by thrombin to assemble into fibrin clots. The N-termini of 2 times 3 chains come together to form a globular ...
NM_002404.3 → NP_002395.1 microfibril-associated glycoprotein 4 isoform 2 precursor

See identical proteins and their annotated locations for NP_002395.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AC124066, AK293056, BQ017631

Consensus CDS

CCDS11208.1

UniProtKB/Swiss-Prot

A8KAJ1, A8MVM2, B4E317, P55083, Q6P680

UniProtKB/TrEMBL

K7ES70

Related

ENSP00000299610.5, ENST00000299610.5

Conserved Domains (1) summary

cd00087
Location:36 → 254

FReD; Fibrinogen-related domains (FReDs); C terminal globular domain of fibrinogen. Fibrinogen is involved in blood clotting, being activated by thrombin to assemble into fibrin clots. The N-termini of 2 times 3 chains come together to form a globular ...