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PRR29 proline rich 29 [ Homo sapiens (human) ]

Gene ID: 92340, updated on 3-Apr-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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Location:
17q23.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (63998351..64004305)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (64869129..64875081)
105.20220307 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)

Genotypes

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_2023_10

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

  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

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