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MRFAP1 Morf4 family associated protein 1 [ Homo sapiens (human) ]

Gene ID: 93621, updated on 3-Nov-2024

Summary

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Official Symbol
MRFAP1provided by HGNC
Official Full Name
Morf4 family associated protein 1provided by HGNC
Primary source
HGNC:HGNC:24549
See related
Ensembl:ENSG00000179010 MIM:616905; AllianceGenome:HGNC:24549
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
Also known as
PGR1; PAM14
Summary
This gene encodes an intracellular protein that interacts with members of the MORF4/MRG (mortality factor on chromosome 4/MORF4 related gene) family and the tumor suppressor Rb (retinoblastoma protein.) The protein may play a role in senescence, cell growth and immortalization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
Expression
Ubiquitous expression in brain (RPKM 146.3), adrenal (RPKM 117.0) and 25 other tissues See more
Orthologs
all
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Genomic context

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See MRFAP1 in Genome Data Viewer
Location:
4p16.1
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (6640685..6642729)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (6617045..6619089)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (6642412..6644456)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6576649-6577417 Neighboring gene mannosidase alpha class 2B member 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6595035-6595534 Neighboring gene Sharpr-MPRA regulatory region 2687 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:6624177-6624370 Neighboring gene uncharacterized LOC124900653 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6640612-6641406 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15233 Neighboring gene uncharacterized LOC124900840 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15234 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6674796-6675404 Neighboring gene long intergenic non-protein coding RNA 2482

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. Quantitative proteomic analysis of cellular protein modulation upon inhibition of the NEDD8-activating enzyme by MLN4924. Liao H, et al. Mol Cell Proteomics, 2011 Nov. PMID 21873567, Free PMC Article
  2. A viral vaccine encoding prostate-specific antigen induces antigen spreading to a common set of self-proteins in prostate cancer patients. Nesslinger NJ, et al. Clin Cancer Res, 2010 Aug 1. PMID 20562209, Free PMC Article
  3. Blood DNA methylation and liver cancer in American Indians: evidence from the Strong Heart Study. Slowly M, et al. Cancer Causes Control, 2024 Apr. PMID 38010586, Free PMC Article
  4. FBXW8-dependent degradation of MRFAP1 in anaphase controls mitotic cell death. Li DZ, et al. Oncotarget, 2017 Nov 14. PMID 29228602, Free PMC Article
  5. Interaction of Sedlin with PAM14. Liu X, et al. J Cell Biochem, 2010 Apr 15. PMID 20108251

See all (50) citations in PubMed

GeneRIFs: Gene References Into Functions

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
MORF4 family-associated protein 1
Names
Mof4 family associated protein 1
T-cell activation protein
protein associated with MRG of 14 kDa

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_001272053.2 → NP_001258982.1  MORF4 family-associated protein 1 isoform a

    See identical proteins and their annotated locations for NP_001258982.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode isoform a.
    Source sequence(s)
    AK123360, BG255189
    Consensus CDS
    CCDS3389.1
    UniProtKB/Swiss-Prot
    B3KVT2, D3DVT3, Q9Y605
    UniProtKB/TrEMBL
    B3KQA0
    Related
    ENSP00000318352.4, ENST00000320912.8
    Conserved Domains (1) summary
    pfam15155
    Location:1 → 127
    MRFAP1; MORF4 family-associated protein1

  2. NM_033296.3 → NP_150638.1  MORF4 family-associated protein 1 isoform a

    See identical proteins and their annotated locations for NP_150638.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Both variants 1 and 2 encode isoform a.
    Source sequence(s)
    AK074496, AK123360, BG255189
    Consensus CDS
    CCDS3389.1
    UniProtKB/Swiss-Prot
    B3KVT2, D3DVT3, Q9Y605
    UniProtKB/TrEMBL
    B3KQA0
    Related
    ENSP00000372024.4, ENST00000382581.5
    Conserved Domains (1) summary
    pfam15155
    Location:1 → 127
    MRFAP1; MORF4 family-associated protein1

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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    6640685..6642729
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    6617045..6619089
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001272054.1: Suppressed sequence

    Description
    NM_001272054.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y605.1 GenPept UniProtKB/Swiss-Prot:Q9Y605

Gene LinkOut

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

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