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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
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Genomic context

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See PRRT4 in Genome Data Viewer
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

Expression

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  • 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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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

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