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    PRR29 proline rich 29 [ Homo sapiens (human) ]

    Gene ID: 92340, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PRR29provided by HGNC
    Official Full Name
    proline rich 29provided by HGNC
    Primary source
    HGNC:HGNC:25673
    See related
    Ensembl:ENSG00000224383 AllianceGenome:HGNC:25673
    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
    Also known as
    C17orf72
    Expression
    Broad expression in spleen (RPKM 19.8), lung (RPKM 9.2) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PRR29 in Genome Data Viewer
    Location:
    17q23.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (63998351..64004305)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (64869129..64875081)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (62075711..62081665)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene growth hormone locus control region Neighboring gene CD79b molecule Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:62036321-62037320 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:62037321-62038319 Neighboring gene sodium voltage-gated channel alpha subunit 4 Neighboring gene uncharacterized LOC105371858 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:62044651-62044849 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:62045661-62046161 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:62064225-62064778 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:62064779-62065330 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:62075897-62076874 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8836 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:62083286-62083980 Neighboring gene PRR29 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12571 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:62097827-62098327 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12573 Neighboring gene CRISPRi-validated cis-regulatory element chr17.4314 Neighboring gene intercellular adhesion molecule 2 Neighboring gene CRISPRi-validated cis-regulatory element chr17.4315 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:62132617-62133360 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:62133361-62134104 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8837 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12576 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12577 Neighboring gene endoplasmic reticulum to nucleus signaling 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8838 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12578 Neighboring gene Sharpr-MPRA regulatory region 10488 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12579 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12580 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12581 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12582 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8839 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8840 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12583 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12585 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12586 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:62223017-62223571 Neighboring gene small nucleolar RNA, C/D box 104 Neighboring gene small nucleolar RNA host gene 25

    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. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    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)

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ11724, DKFZp761M2312

    General protein information

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    Preferred Names
    proline-rich protein 29
    NP_001157729.1
    NP_001177958.1
    NP_001177959.1
    NP_001177960.1
    XP_005257862.1
    XP_011523770.1
    XP_011523771.1
    XP_016880804.1
    XP_054173756.1
    XP_054173757.1

    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_001164257.2 → NP_001157729.1  proline-rich protein 29 isoform 2

      See identical proteins and their annotated locations for NP_001157729.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site and includes an additional exon that causes a frameshift in the 3' coding region, compared to variant 1. The resulting isoform (2) has a distinct and shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AC005803, AK021786, BC030709, BC045676
      Consensus CDS
      CCDS54158.1
      UniProtKB/Swiss-Prot
      B3KMP0, B4DZJ9, B4E2F8, E9PGL5, J3QKX4, P0C7W0
      UniProtKB/TrEMBL
      J3KRR4
      Related
      ENSP00000400986.1, ENST00000412177.6
      Conserved Domains (1) summary
      pfam15248
      Location:39 → 107
      DUF4587; Domain of unknown function (DUF4587)

    2. NM_001191029.2 → NP_001177958.1  proline-rich protein 29 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC005803, AK302960, BC045676
      Consensus CDS
      CCDS54157.1
      UniProtKB/Swiss-Prot
      P0C7W0
      Related
      ENSP00000396936.3, ENST00000425164.7
      Conserved Domains (1) summary
      pfam15248
      Location:39 → 107
      DUF4587; Domain of unknown function (DUF4587)

    3. NM_001191030.2 → NP_001177959.1  proline-rich protein 29 isoform 3

      See identical proteins and their annotated locations for NP_001177959.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, and uses an alternate splice site and includes an additional exon that causes a frameshift in the 3' coding region, compared to variant 1. The resulting isoform (3) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC005803, BC045676, DC358808
      Consensus CDS
      CCDS58586.1
      UniProtKB/TrEMBL
      J3KRR4
      Related
      ENSP00000462097.1, ENST00000579184.5
      Conserved Domains (1) summary
      pfam15248
      Location:32 → 105
      DUF4587; Domain of unknown function (DUF4587)

    4. NM_001191031.2 → NP_001177960.1  proline-rich protein 29 isoform 4

      See identical proteins and their annotated locations for NP_001177960.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate exon but includes a different alternate exon that causes a frameshift in the 3' coding region, compared to variant 1. The resulting isoform (4) has a distinct and shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AC005803, BC045676, DB037384
      Consensus CDS
      CCDS54159.1
      UniProtKB/Swiss-Prot
      P0C7W0
      Related
      ENSP00000463279.1, ENST00000577953.5
      Conserved Domains (1) summary
      pfam15248
      Location:39 → 91
      DUF4587; Domain of unknown function (DUF4587)

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      63998351..64004305
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017025315.2 → XP_016880804.1  proline-rich protein 29 isoform X3

    2. XM_011525469.2 → XP_011523771.1  proline-rich protein 29 isoform X4

      See identical proteins and their annotated locations for XP_011523771.1

      UniProtKB/TrEMBL
      B4DG13, J3QR92
      Related
      ENSP00000464103.1, ENST00000582540.5
      Conserved Domains (1) summary
      pfam15248
      Location:1 → 62
      DUF4587; Domain of unknown function (DUF4587)

    3. XM_011525468.3 → XP_011523770.1  proline-rich protein 29 isoform X1

    4. XM_005257805.4 → XP_005257862.1  proline-rich protein 29 isoform X2

      See identical proteins and their annotated locations for XP_005257862.1

      Conserved Domains (1) summary
      pfam15248
      Location:39 → 107
      DUF4587; Domain of unknown function (DUF4587)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      64869129..64875081
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317782.1 → XP_054173757.1  proline-rich protein 29 isoform X4

      UniProtKB/TrEMBL
      B4DG13, J3QR92

    2. XM_054317781.1 → XP_054173756.1  proline-rich protein 29 isoform X2

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_015354.2: Suppressed sequence

      Description
      NR_015354.2: This RefSeq was permanently suppressed because it is now thought that this gene does encode a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0C7W0.2 GenPept UniProtKB/Swiss-Prot:P0C7W0

    Gene LinkOut

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

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