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    SARNP SAP domain containing ribonucleoprotein [ Homo sapiens (human) ]

    Gene ID: 84324, updated on 3-Nov-2024

    Summary

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    Official Symbol
    SARNPprovided by HGNC
    Official Full Name
    SAP domain containing ribonucleoproteinprovided by HGNC
    Primary source
    HGNC:HGNC:24432
    See related
    Ensembl:ENSG00000205323 MIM:610049; AllianceGenome:HGNC:24432
    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
    HCC1; THO1; CIP29; HSPC316
    Summary
    This gene encodes a protein that is upregulated in response to various cytokines. The encoded protein may play a role in cell cycle progression. A translocation between this gene and the myeloid/lymphoid leukemia gene, resulting in expression of a chimeric protein, has been associated with acute myelomonocytic leukemia. Pseudogenes exist on chromosomes 7 and 8. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]
    Expression
    Ubiquitous expression in testis (RPKM 27.2), endometrium (RPKM 26.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SARNP in Genome Data Viewer
    Location:
    12q13.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (55752463..55817724, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (55719098..55784368, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56146247..56211508, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene BLOC1S1-RDH5 readthrough Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:56114612-56115240 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4535 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:56122619-56123225 Neighboring gene retinol dehydrogenase 5 Neighboring gene CD63 antisense RNA 1 Neighboring gene CD63 molecule Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6459 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4537 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56140299-56140802 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr12:56140803-56141306 Neighboring gene growth differentiation factor 11 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:56192003-56192504 Neighboring gene ORMDL sphingolipid biosynthesis regulator 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4538 Neighboring gene DnaJ heat shock protein family (Hsp40) member C14 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56223947-56224684 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6460 Neighboring gene transmembrane protein 198B (pseudogene) Neighboring gene matrix metallopeptidase 19

    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 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. Identification of apoptotic tyrosine-phosphorylated proteins after etoposide or retinoic acid treatment. Navakauskiene R, et al. Proteomics, 2004 Apr. PMID 15048984
    2. A novel partner gene CIP29 containing a SAP domain with MLL identified in infantile myelomonocytic leukemia. Hashii Y, et al. Leukemia, 2004 Sep. PMID 15284855
    3. An integrated approach in the discovery and characterization of a novel nuclear protein over-expressed in liver and pancreatic tumors. Choong ML, et al. FEBS Lett, 2001 May 11. PMID 11356193
    4. SARNP, a participant in mRNA splicing and export, negatively regulates E-cadherin expression via interaction with pinin. Kang GJ, et al. J Cell Physiol, 2020 Feb. PMID 31313837
    5. Hcc-1 is a novel component of the nuclear matrix with growth inhibitory function. Leaw CL, et al. Cell Mol Life Sci, 2004 Sep. PMID 15338056, Free PMC Article

    See all (98) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Structural basis for high-order complex of SARNP and DDX39B to facilitate mRNP assembly.
      Title: Structural basis for high-order complex of SARNP and DDX39B to facilitate mRNP assembly.
    2. SARNP, a participant in mRNA splicing and export, negatively regulates E-cadherin expression via interaction with pinin.
      Title: SARNP, a participant in mRNA splicing and export, negatively regulates E-cadherin expression via interaction with pinin.
    3. Herein, the authors extend their previous research and provide evidence that ORF57 of human herpesvirus-8 interacts with CHTOP and CIP29, in contrast to POLDIP3.
      Title: Interactions between KSHV ORF57 and the novel human TREX proteins, CHTOP and CIP29.
    4. CIP29 physically and functionally associates with DDX39, suggesting their cooperation in the RNA metabolism.
      Title: Intracellular characterization of DDX39, a novel growth-associated RNA helicase.
    5. CIP29 appears to be a new cytokine regulated protein involved in normal and cancer cell proliferation.
      Title: Cloning and characterization of a proliferation-associated cytokine-inducible protein, CIP29.
    6. Hcc-1 plays a role in growth regulation and nucleic acids metabolism.
      Title: Hcc-1 is a novel component of the nuclear matrix with growth inhibitory function.
    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 Variation Viewer (GRCh37.p13)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat SAP domain containing ribonucleoprotein (SARNP) is identified to interact with HIV-1 Tat mutant Nullbasic in HeLa cells by LC MS/MS PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC14726

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA binding HDA PubMed 
    enables chromatin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mRNA export from nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in poly(A)+ mRNA export from nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of translation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasmic ribonucleoprotein granule IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of transcription export complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    SAP domain-containing ribonucleoprotein
    Names
    cytokine induced protein 29 kDa
    cytokine-induced protein of 29 kDa
    hepatocellular carcinoma 1
    nuclear protein Hcc-1
    proliferation associated cytokine-inducible protein CIP29

    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_033082.4 → NP_149073.1  SAP domain-containing ribonucleoprotein

      See identical proteins and their annotated locations for NP_149073.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript and encodes the functional protein.
      Source sequence(s)
      AF161434, BC007099, BI520421
      Consensus CDS
      CCDS8892.1
      UniProtKB/Swiss-Prot
      A8K393, P82979, Q9P066
      UniProtKB/TrEMBL
      F8VZQ9
      Related
      ENSP00000337632.3, ENST00000336133.8
      Conserved Domains (2) summary
      smart00513
      Location:8 → 42
      SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
      PLN03124
      Location:7 → 90
      PLN03124; poly [ADP-ribose] polymerase; Provisional

    RNA

    1. NR_026722.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an internal exon and differs in the 3' region compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK290508, BC093051, BI520421
      Related
      ENST00000552884.5

    2. NR_026723.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' region compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK290508, BI520421

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      55752463..55817724 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      55719098..55784368 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P82979.3 GenPept UniProtKB/Swiss-Prot:P82979

    Gene LinkOut

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