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    PRRT4 proline rich transmembrane protein 4 [ Homo sapiens (human) ]

    Gene ID: 401399, updated on 5-Mar-2024

    Summary

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    Official Symbol
    PRRT4provided by HGNC
    Official Full Name
    proline rich transmembrane protein 4provided by HGNC
    Primary source
    HGNC:HGNC:37280
    See related
    Ensembl:ENSG00000224940 AllianceGenome:HGNC:37280
    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
    Summary
    Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in bone marrow (RPKM 11.2) and fat (RPKM 5.1) See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    7q32.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (128350325..128361983, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (129662082..129673815, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (127990379..128001744, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene aurora kinase A pseudogene Neighboring gene RNA binding motif protein 28 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:127959579-127960080 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26596 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26597 Neighboring gene RNA, U7 small nuclear 27 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:127999072-127999941 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:127999942-128000810 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:128000811-128001679 Neighboring gene uncharacterized LOC107986845 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:128031425-128031926 Neighboring gene inosine monophosphate dehydrogenase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:128043787-128044403 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:128044404-128045019 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:128045637-128046251 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18605 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18606 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26598 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18607 Neighboring gene ribosomal protein L37 pseudogene 16

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Human chromosome 7: DNA sequence and biology. Scherer SW, et al. Science, 2003 May 2. PMID 12690205, Free PMC Article
    2. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
    3. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. Emdal KB, et al. Sci Signal, 2015 Apr 28. PMID 25921289
    4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. Bailey SD, et al. Diabetes Care, 2010 Oct. PMID 20628086, Free PMC Article
    5. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. Talmud PJ, et al. Am J Hum Genet, 2009 Nov. PMID 19913121, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Submit: New GeneRIF Correction

    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)

    Genotypes

    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

    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    proline-rich transmembrane 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.

    mRNA and Protein(s)

    1. NM_001114726.3 → NP_001108198.2  proline-rich transmembrane protein 4 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001108198.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks both an exon in the 5' UTR and a segment in the 3' coding region, which causes a frameshift, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC010655, BC063892, BU688038
      Consensus CDS
      CCDS47698.2
      UniProtKB/Swiss-Prot
      C9JH25
      Related
      ENSP00000419296.2, ENST00000489835.6
      Conserved Domains (1) summary
      pfam15782
      Location:113 → 304
      GREB1; Gene regulated by oestrogen in breast cancer

    2. NM_001174164.2 → NP_001167635.1  proline-rich transmembrane protein 4 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001167635.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC010655, BU688038, BX327107, BX355277
      Consensus CDS
      CCDS55160.1
      UniProtKB/Swiss-Prot
      A4D0Z9, C9JH25, C9JVW7
      Related
      ENSP00000415026.2, ENST00000446477.7
      Conserved Domains (1) summary
      pfam15782
      Location:113 → 304
      GREB1; Gene regulated by oestrogen in breast cancer

    3. NM_001395429.1 → NP_001382358.1  proline-rich transmembrane protein 4 isoform 1 precursor

      Status: VALIDATED

      Source sequence(s)
      AC010655
      Consensus CDS
      CCDS55160.1
      UniProtKB/Swiss-Prot
      A4D0Z9, C9JH25, C9JVW7
      Related
      ENSP00000445239.1, ENST00000535159.5

    4. NM_001405492.1 → NP_001392421.1  proline-rich transmembrane protein 4 isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC010655

    5. NM_001405493.1 → NP_001392422.1  proline-rich transmembrane protein 4 isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC010655

    6. NM_001405494.1 → NP_001392423.1  proline-rich transmembrane protein 4 isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC010655
      Consensus CDS
      CCDS47698.2

    7. NM_001405495.1 → NP_001392424.1  proline-rich transmembrane protein 4 isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      AC010655

    8. NM_001405496.1 → NP_001392425.1  proline-rich transmembrane protein 4 isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      AC010655

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      128350325..128361983 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420374.1 → XP_047276330.1  proline-rich transmembrane protein 4 isoform X4

    2. XM_047420371.1 → XP_047276327.1  proline-rich transmembrane protein 4 isoform X2

    3. XM_047420368.1 → XP_047276324.1  proline-rich transmembrane protein 4 isoform X2

    4. XM_047420366.1 → XP_047276322.1  proline-rich transmembrane protein 4 isoform X1

    5. XM_047420369.1 → XP_047276325.1  proline-rich transmembrane protein 4 isoform X2

    6. XM_017012206.2 → XP_016867695.1  proline-rich transmembrane protein 4 isoform X2

      UniProtKB/Swiss-Prot
      C9JH25
      Conserved Domains (1) summary
      pfam15782
      Location:113 → 304
      GREB1; Gene regulated by oestrogen in breast cancer

    7. XM_047420373.1 → XP_047276329.1  proline-rich transmembrane protein 4 isoform X4

    8. XM_047420372.1 → XP_047276328.1  proline-rich transmembrane protein 4 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      129662082..129673815 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358211.1 → XP_054214186.1  proline-rich transmembrane protein 4 isoform X2

    2. XM_054358208.1 → XP_054214183.1  proline-rich transmembrane protein 4 isoform X1

    3. XM_054358215.1 → XP_054214190.1  proline-rich transmembrane protein 4 isoform X4

    4. XM_054358209.1 → XP_054214184.1  proline-rich transmembrane protein 4 isoform X2

    5. XM_054358207.1 → XP_054214182.1  proline-rich transmembrane protein 4 isoform X1

    6. XM_054358210.1 → XP_054214185.1  proline-rich transmembrane protein 4 isoform X2

    7. XM_054358213.1 → XP_054214188.1  proline-rich transmembrane protein 4 isoform X4

    8. XM_054358214.1 → XP_054214189.1  proline-rich transmembrane protein 4 isoform X4

    9. XM_054358212.1 → XP_054214187.1  proline-rich transmembrane protein 4 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    C9JH25.1 GenPept UniProtKB/Swiss-Prot:C9JH25

    Gene LinkOut

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

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