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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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    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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