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    RUBCNL RUN and cysteine rich domain containing beclin 1 interacting protein like [ Homo sapiens (human) ]

    Gene ID: 80183, updated on 5-Aug-2018

    Summary

    Official Symbol
    RUBCNLprovided by HGNC
    Official Full Name
    RUN and cysteine rich domain containing beclin 1 interacting protein likeprovided by HGNC
    Primary source
    HGNC:HGNC:20420
    See related
    Ensembl:ENSG00000102445 Vega:OTTHUMG00000016868
    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
    PACER; C13orf18; KIAA0226L
    Summary
    This gene encodes a cysteine-rich protein that contains a putative zinc-RING and/or ribbon domain. The encoded protein is related to Run domain Beclin-1-interacting and cysteine-rich domain-containing protein, which plays a role in endocytic trafficking and autophagy. In cervical cancer cell lines, this gene is expressed at low levels and may function as a tumor suppressor. Promoter hypermethylation of this gene is observed in cervical cancer cell lines and tissue derived from human patients. [provided by RefSeq, Mar 2017]
    Expression
    Biased expression in lymph node (RPKM 14.1), spleen (RPKM 8.4) and 13 other tissues See more
    Orthologs

    Genomic context

    See RUBCNL in Genome Data Viewer
    Location:
    13q14.13
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (46341739..46390042, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (46916136..46964177, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene leucine rich repeat containing 63 Neighboring gene uncharacterized LOC105370194 Neighboring gene family with sequence similarity 206 member B, pseudogene Neighboring gene long intergenic non-protein coding RNA 563 Neighboring gene RNA, U2 small nuclear 6, pseudogene Neighboring gene RNA, U6 small nuclear 68, pseudogene Neighboring gene protein phosphatase 1 regulatory inhibitor subunit 2 pseudogene 4

    Genomic regions, transcripts, and products

    Expression

    • 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ21562, FLJ43762

    General protein information

    Preferred Names
    protein RUBCNL-like
    Names
    KIAA0226 like
    protein associated with UVRAG as autophagy enhancer

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_053064.1 RefSeqGene

      Range
      5001..53304
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001286761.2NP_001273690.1  protein RUBCNL-like isoform a

      See identical proteins and their annotated locations for NP_001273690.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 8 encode the same isoform (a).
      Source sequence(s)
      AK093073, AL139801, BC004495, CD701535, DB050136
      Consensus CDS
      CCDS31970.2
      UniProtKB/Swiss-Prot
      Q9H714
      Related
      ENSP00000374558.3, OTTHUMP00000198242, ENST00000389908.7, OTTHUMT00000044809
      Conserved Domains (1) summary
      pfam13901
      Location:451646
      zf-RING_9; Putative zinc-RING and/or ribbon
    2. NM_001286762.2NP_001273691.1  protein RUBCNL-like isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK025215, AL139801, BC032311, CD701535, DC330997
      Consensus CDS
      CCDS66543.1
      UniProtKB/Swiss-Prot
      Q9H714
      Related
      ENSP00000368064.3, OTTHUMP00000018366, ENST00000378787.7, OTTHUMT00000044805
      Conserved Domains (1) summary
      pfam13901
      Location:450544
      zf-RING_9; Putative zinc-RING and/or ribbon
    3. NM_001286763.2NP_001273692.1  protein RUBCNL-like isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks a portion of the 5' coding region and initiates translation at an alternate upstream start codon, compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK293034, AL139801, BC043488, CD701535, DC330997
      Consensus CDS
      CCDS66545.1
      UniProtKB/Swiss-Prot
      Q9H714
      Related
      ENSP00000368061.4, OTTHUMP00000018368, ENST00000378784.8, OTTHUMT00000044810
      Conserved Domains (1) summary
      pfam13901
      Location:383582
      zf-RING_9; Putative zinc-RING and/or ribbon
    4. NM_001286764.2NP_001273693.1  protein RUBCNL-like isoform d

      See identical proteins and their annotated locations for NP_001273693.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (d) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AK293034, AL139801, CD701535, DC330997
      Consensus CDS
      CCDS66542.1
      UniProtKB/Swiss-Prot
      Q9H714
      Related
      ENSP00000485932.1, OTTHUMP00000278729, ENST00000631139.2, OTTHUMT00000044813
      Conserved Domains (1) summary
      pfam13901
      Location:315514
      zf-RING_9; Putative zinc-RING and/or ribbon
    5. NM_001286765.2NP_001273694.1  protein RUBCNL-like isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks a portion of the 5' coding region and initiates translation at an alternate upstream start codon, compared to variant 1. The encoded isoform (e) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK300183, AL139801, BC043488, CD701535, DC330997
      Consensus CDS
      CCDS66544.1
      UniProtKB/TrEMBL
      B7ZBN5
      Related
      ENSP00000368057.4, ENST00000378781.7
      Conserved Domains (1) summary
      pfam13901
      Location:293492
      zf-RING_9; Putative zinc-RING and/or ribbon
    6. NM_001286766.2NP_001273695.1  protein RUBCNL-like isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (f) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AK025215, AK307854, AL139801, CD701535, DC330997
      Consensus CDS
      CCDS73569.1
      UniProtKB/TrEMBL
      A0A0A0MRV7
      Related
      ENSP00000368074.3, ENST00000378797.6
      Conserved Domains (1) summary
      pfam13901
      Location:235434
      zf-RING_9; Putative zinc-RING and/or ribbon
    7. NM_001349772.1NP_001336701.1  protein RUBCNL-like isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 8 encode the same isoform (a).
      Source sequence(s)
      AL139801, CD701535
      Consensus CDS
      CCDS31970.2
      Conserved Domains (1) summary
      pfam13901
      Location:451646
      zf-RING_9; Putative zinc-RING and/or ribbon
    8. NM_025113.4NP_079389.2  protein RUBCNL-like isoform a

      See identical proteins and their annotated locations for NP_079389.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1, 2 and 8 encode the same isoform (a).
      Source sequence(s)
      AL139801, CD701535
      Consensus CDS
      CCDS31970.2
      UniProtKB/Swiss-Prot
      Q9H714
      Related
      ENSP00000396935.1, ENST00000429979.5
      Conserved Domains (1) summary
      pfam13901
      Location:451646
      zf-RING_9; Putative zinc-RING and/or ribbon

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

      Range
      46341739..46390042 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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