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    FAM220A family with sequence similarity 220 member A [ Homo sapiens (human) ]

    Gene ID: 84792, updated on 2-Nov-2024

    Summary

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    Official Symbol
    FAM220Aprovided by HGNC
    Official Full Name
    family with sequence similarity 220 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:22422
    See related
    Ensembl:ENSG00000178397 MIM:616628; AllianceGenome:HGNC:22422
    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
    SIPAR; ACPIN1; C7orf70; SMIM10L3
    Summary
    Predicted to enable STAT family protein binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to act upstream of or within protein dephosphorylation. Predicted to be located in acrosomal vesicle. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 42.1), brain (RPKM 9.5) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM220A in Genome Data Viewer
    Location:
    7p22.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (6329411..6348967, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (6448805..6468359, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (6369042..6388598, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17934 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:6141129-6141352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:6143513-6144112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17935 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17937 Neighboring gene ubiquitin specific peptidase 42 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:6189130-6190329 Neighboring gene cytohesin 3 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:6262905-6263525 Neighboring gene Sharpr-MPRA regulatory region 15593 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25619 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25620 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:6310870-6311592 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:6311593-6312314 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:6322371-6323253 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:6323254-6324135 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:6362882-6363382 Neighboring gene small integral membrane protein 10 like 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:6387689-6388190 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:6388191-6388690 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:6407719-6408220 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:6408221-6408720 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17941 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17942 Neighboring gene ribosomal protein SA pseudogene 73 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25621 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25622 Neighboring gene Rac family small GTPase 1

    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. SIPAR negatively regulates STAT3 signaling and inhibits progression of melanoma. Ren F, et al. Cell Signal, 2013 Nov. PMID 23917203
    2. Unique alternative translation from two open reading frames on Acpin1 mRNA yields an acrosomal protein and a salivary-gland-specific protein. Ueda T, et al. Int J Urol, 2009 Jul. PMID 19659802
    3. Nuclear termination of STAT3 signaling through SIPAR (STAT3-Interacting Protein As a Repressor)-dependent recruitment of T cell tyrosine phosphatase TC-PTP. Ren F, et al. FEBS Lett, 2015 Jul 8. PMID 26026268
    4. Identification of motif-based interactions between SARS-CoV-2 protein domains and human peptide ligands pinpoint antiviral targets. Mihalič F, et al. Nat Commun, 2023 Sep 13. PMID 37704626, Free PMC Article
    5. The DNA sequence of human chromosome 7. Hillier LW, et al. Nature, 2003 Jul 10. PMID 12853948

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. results suggest that SIPAR terminates the activation of STAT3 through a dephosphorylation process that is dependent upon interaction with TC45 in the nucleus
      Title: Nuclear termination of STAT3 signaling through SIPAR (STAT3-Interacting Protein As a Repressor)-dependent recruitment of T cell tyrosine phosphatase TC-PTP.
    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 variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC12966

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables STAT family protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in acrosomal vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein FAM220A
    Names
    STAT3-interacting protein as a repressor
    acrosomal protein 1
    salivary gland-specific protein SAGSIN1

    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_001037163.2 → NP_001032240.1  protein FAM220A

      See identical proteins and their annotated locations for NP_001032240.1

      Status: VALIDATED

      Source sequence(s)
      AC009412, AF533707, BP354450
      Consensus CDS
      CCDS34599.1
      UniProtKB/Swiss-Prot
      Q75ML2, Q7Z4H9, Q8NA52, Q9BRR7
      UniProtKB/TrEMBL
      B9EIK0
      Related
      ENSP00000317289.4, ENST00000313324.9
      Conserved Domains (1) summary
      pfam15487
      Location:2 → 253
      FAM220; FAM220 family

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      6329411..6348967 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      6448805..6468359 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_032706.1: Suppressed sequence

      Description
      NM_032706.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0A0C4DGP1.1 GenPept UniProtKB/Swiss-Prot:A0A0C4DGP1
    Q7Z4H9.1 GenPept UniProtKB/Swiss-Prot:Q7Z4H9

    Gene LinkOut

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

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