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    RNF17 ring finger protein 17 [ Homo sapiens (human) ]

    Gene ID: 56163, updated on 2-Nov-2024

    Summary

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    Official Symbol
    RNF17provided by HGNC
    Official Full Name
    ring finger protein 17provided by HGNC
    Primary source
    HGNC:HGNC:10060
    See related
    Ensembl:ENSG00000132972 MIM:605793; AllianceGenome:HGNC:10060
    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
    TDRD4; Mmip-2; SPATA23
    Summary
    This gene is similar to a mouse gene that encodes a testis-specific protein containing a RING finger domain. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, May 2010]
    Expression
    Restricted expression toward testis (RPKM 10.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See RNF17 in Genome Data Viewer
    Location:
    13q12.12
    Exon count:
    44
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (24747767..24888581)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (23955491..24097408)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (25338307..25454059)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7479 Neighboring gene ankyrin repeat domain 20 family member A10, pseudogene Neighboring gene clustered mitochondria homolog pseudogene 9 Neighboring gene iroquois homeobox 1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 11275 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5181 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:25467896-25468814 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7480 Neighboring gene centrosome assembly and centriole elongation protein Neighboring gene MED14-independent group 3 enhancer GRCh37_chr13:25484884-25486083 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:25496143-25497044 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:25497045-25497946 Neighboring gene TPTE2 pseudogene 1 Neighboring gene solute carrier family 25 member 15 pseudogene 3 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:25531195-25531774 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:25543733-25544640 Neighboring gene ribosomal protein L34 pseudogene 27

    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. Tudor domain-containing protein 4 as a potential cancer/testis antigen in liver cancer. Yoon H, et al. Tohoku J Exp Med, 2011 May. PMID 21515969
    2. Expression analysis of two cancer-testis genes, FBXO39 and TDRD4, in breast cancer tissues and cell lines. Seifi-Alan M, et al. Asian Pac J Cancer Prev, 2014 Jan. PMID 24377578
    3. An E2-guided E3 Screen Identifies the RNF17-UBE2U Pair as Regulator of the Radiosensitivity, Immunodeficiency, Dysmorphic Features, and Learning Difficulties (RIDDLE) Syndrome Protein RNF168. Guo Y, et al. J Biol Chem, 2017 Jan 20. PMID 27903633, Free PMC Article
    4. Androgen-receptor-interacting nuclear proteins. Jänne OA, et al. Biochem Soc Trans, 2000. PMID 10961928
    5. An abundance of X-linked genes expressed in spermatogonia. Wang PJ, et al. Nat Genet, 2001 Apr. PMID 11279525

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Further mining of the UBE2U interactome uncovered its cognate E3 RNF17 as a novel factor that, via the radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties (RIDDLE) syndrome protein RNF168, enforces DNA damage responses.
      Title: An E2-guided E3 Screen Identifies the RNF17-UBE2U Pair as Regulator of the Radiosensitivity, Immunodeficiency, Dysmorphic Features, and Learning Difficulties (RIDDLE) Syndrome Protein RNF168.
    2. TDRD4 showed significant up-regulation in invasive ductal breast carcinoma.
      Title: Expression analysis of two cancer-testis genes, FBXO39 and TDRD4, in breast cancer tissues and cell lines.
    3. TDRD4 mRNA is expressed in a subset of liver cancers, and TDRD4 is a candidate CT antigen for liver cancer.
      Title: Tudor domain-containing protein 4 as a potential cancer/testis antigen in liver cancer.
    Submit: New GeneRIF Correction

    Phenotypes

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    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

    Clone Names

    • FLJ11045

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in spermatid development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    RING finger protein 17
    Names
    spermatogenesis associated 23
    tudor domain containing 4
    tudor domain-containing 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_001184993.2 → NP_001171922.1  RING finger protein 17 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame segment in the CDS, as compared to variant 1. The resulting isoform (2) lacks an internal segment, as compared to isoform 1.
      Source sequence(s)
      AK302435, BC037275
      UniProtKB/TrEMBL
      B7Z7S1
      Conserved Domains (2) summary
      cd04508
      Location:731 → 776
      TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
      pfam00567
      Location:1173 → 1291
      TUDOR; Tudor domain

    2. NM_031277.3 → NP_112567.2  RING finger protein 17 isoform 1

      See identical proteins and their annotated locations for NP_112567.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK001907, BC037275, CD358307, DB517763
      Consensus CDS
      CCDS9308.2
      UniProtKB/Swiss-Prot
      Q5T2J9, Q6P1W3, Q9BXT7, Q9BXT8, Q9NUY9
      UniProtKB/TrEMBL
      B7Z7S1
      Related
      ENSP00000255324.5, ENST00000255324.10
      Conserved Domains (2) summary
      cd04508
      Location:731 → 776
      TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
      pfam00567
      Location:1177 → 1295
      TUDOR; Tudor domain

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      24747767..24888581
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011535156.3 → XP_011533458.1  RING finger protein 17 isoform X1

      See identical proteins and their annotated locations for XP_011533458.1

      UniProtKB/TrEMBL
      B7Z7S1
      Conserved Domains (2) summary
      cd04508
      Location:1560 → 1607
      TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
      pfam00567
      Location:1253 → 1371
      TUDOR; Tudor domain

    2. XM_011535152.3 → XP_011533454.1  RING finger protein 17 isoform X1

      See identical proteins and their annotated locations for XP_011533454.1

      UniProtKB/TrEMBL
      B7Z7S1
      Conserved Domains (2) summary
      cd04508
      Location:1560 → 1607
      TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
      pfam00567
      Location:1253 → 1371
      TUDOR; Tudor domain

    3. XM_011535158.3 → XP_011533460.1  RING finger protein 17 isoform X5

      UniProtKB/TrEMBL
      B7Z7S1
      Conserved Domains (2) summary
      cd04508
      Location:1518 → 1565
      TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
      pfam00567
      Location:1253 → 1371
      TUDOR; Tudor domain

    4. XM_011535157.3 → XP_011533459.1  RING finger protein 17 isoform X2

      UniProtKB/TrEMBL
      B7Z7S1
      Conserved Domains (2) summary
      cd04508
      Location:1556 → 1603
      TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
      pfam00567
      Location:1249 → 1367
      TUDOR; Tudor domain

    5. XM_011535159.3 → XP_011533461.1  RING finger protein 17 isoform X6

      UniProtKB/TrEMBL
      B7Z7S1
      Conserved Domains (2) summary
      cd04508
      Location:758 → 803
      TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
      pfam00567
      Location:1204 → 1322
      TUDOR; Tudor domain

    6. XM_011535160.3 → XP_011533462.1  RING finger protein 17 isoform X7

      UniProtKB/TrEMBL
      B7Z7S1
      Conserved Domains (2) summary
      cd04508
      Location:758 → 803
      TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
      pfam00567
      Location:1200 → 1318
      TUDOR; Tudor domain

    7. XM_011535155.3 → XP_011533457.1  RING finger protein 17 isoform X1

      See identical proteins and their annotated locations for XP_011533457.1

      UniProtKB/TrEMBL
      B7Z7S1
      Conserved Domains (2) summary
      cd04508
      Location:1560 → 1607
      TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
      pfam00567
      Location:1253 → 1371
      TUDOR; Tudor domain

    8. XM_047430486.1 → XP_047286442.1  RING finger protein 17 isoform X1

    9. XM_006719846.4 → XP_006719909.1  RING finger protein 17 isoform X3

      UniProtKB/TrEMBL
      B7Z7S1
      Conserved Domains (2) summary
      cd04508
      Location:1553 → 1600
      TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
      pfam00567
      Location:1246 → 1364
      TUDOR; Tudor domain

    10. XM_006719849.3 → XP_006719912.1  RING finger protein 17 isoform X4

      UniProtKB/TrEMBL
      B7Z7S1
      Conserved Domains (2) summary
      cd04508
      Location:1533 → 1580
      TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
      pfam00567
      Location:1226 → 1344
      TUDOR; Tudor domain

    11. XM_017020676.2 → XP_016876165.1  RING finger protein 17 isoform X8

      UniProtKB/TrEMBL
      B7Z7S1

    12. XM_047430488.1 → XP_047286444.1  RING finger protein 17 isoform X9

    13. XM_011535162.2 → XP_011533464.1  RING finger protein 17 isoform X10

      UniProtKB/TrEMBL
      B7Z7S1
      Conserved Domains (2) summary
      cd04508
      Location:1359 → 1406
      TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
      pfam00567
      Location:1052 → 1170
      TUDOR; Tudor domain

    14. XM_011535163.2 → XP_011533465.1  RING finger protein 17 isoform X11

      Conserved Domains (2) summary
      cd04508
      Location:1122 → 1169
      TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
      pfam00567
      Location:815 → 933
      TUDOR; Tudor domain

    15. XM_011535164.3 → XP_011533466.1  RING finger protein 17 isoform X12

      UniProtKB/TrEMBL
      Q5T2J8
      Related
      ENSP00000388892.1, ENST00000418120.5
      Conserved Domains (2) summary
      cd04508
      Location:750 → 797
      TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
      pfam00567
      Location:443 → 561
      TUDOR; Tudor domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      23955491..24097408
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374757.1 → XP_054230732.1  RING finger protein 17 isoform X1

    2. XM_054374759.1 → XP_054230734.1  RING finger protein 17 isoform X1

    3. XM_054374758.1 → XP_054230733.1  RING finger protein 17 isoform X1

    4. XM_054374763.1 → XP_054230738.1  RING finger protein 17 isoform X5

    5. XM_054374760.1 → XP_054230735.1  RING finger protein 17 isoform X2

    6. XM_054374765.1 → XP_054230740.1  RING finger protein 17 isoform X7

    7. XM_054374764.1 → XP_054230739.1  RING finger protein 17 isoform X6

    8. XM_054374761.1 → XP_054230736.1  RING finger protein 17 isoform X3

    9. XM_054374762.1 → XP_054230737.1  RING finger protein 17 isoform X4

    10. XM_054374766.1 → XP_054230741.1  RING finger protein 17 isoform X8

    11. XM_054374767.1 → XP_054230742.1  RING finger protein 17 isoform X9

    12. XM_054374768.1 → XP_054230743.1  RING finger protein 17 isoform X10

    13. XM_054374769.1 → XP_054230744.1  RING finger protein 17 isoform X11

    14. XM_054374770.1 → XP_054230745.1  RING finger protein 17 isoform X12

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_031994.1: Suppressed sequence

      Description
      NM_031994.1: This RefSeq was permanently suppressed 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
    Q9BXT8.3 GenPept UniProtKB/Swiss-Prot:Q9BXT8

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