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    SOBP sine oculis binding protein homolog [ Homo sapiens (human) ]

    Gene ID: 55084, updated on 9-Dec-2024

    Summary

    Official Symbol
    SOBPprovided by HGNC
    Official Full Name
    sine oculis binding protein homologprovided by HGNC
    Primary source
    HGNC:HGNC:29256
    See related
    Ensembl:ENSG00000112320 MIM:613667; AllianceGenome:HGNC:29256
    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
    JXC1; MRAMS
    Summary
    The protein encoded by this gene is a nuclear zinc finger protein that is involved in development of the cochlea. Defects in this gene have also been linked to intellectual disability. [provided by RefSeq, Mar 2011]
    Expression
    Broad expression in brain (RPKM 6.2), ovary (RPKM 3.5) and 21 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SOBP in Genome Data Viewer
    Location:
    6q21
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (107490117..107661306)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (108669050..108840201)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (107811321..107982510)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene decaprenyl diphosphate synthase subunit 2 Neighboring gene ribosomal protein S24 pseudogene 12 Neighboring gene uncharacterized LOC124901366 Neighboring gene MPRA-validated peak6006 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:107780809-107781730 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17440 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17441 Neighboring gene NANOG hESC enhancer GRCh37_chr6:107906855-107907747 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:107925473-107925974 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:107925975-107926474 Neighboring gene Sharpr-MPRA regulatory region 6907 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:107978733-107979310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:107979311-107979887 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:107989710-107990210 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:107990211-107990711 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24906 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:107994533-107995032 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:107995930-107996511 Neighboring gene uncharacterized LOC124901367 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:107996512-107997092 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17442 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17443 Neighboring gene Scm polycomb group protein like 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24908

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ10159

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SUMO polymer 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 animal organ development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cochlea development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cognition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in inner ear morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    sine oculis-binding protein homolog
    Names
    jackson circler protein 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_028200.2 RefSeqGene

      Range
      5005..176194
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_018013.4NP_060483.3  sine oculis-binding protein homolog

      See identical proteins and their annotated locations for NP_060483.3

      Status: REVIEWED

      Source sequence(s)
      AL096816, AL121957, BC014859, BC113966, BM684094, BX442875
      Consensus CDS
      CCDS43488.1
      UniProtKB/Swiss-Prot
      A7XYQ1, B0QZ12, Q5BJD4, Q8N2B2
      Related
      ENSP00000318900.5, ENST00000317357.10
      Conserved Domains (1) summary
      pfam15279
      Location:224524
      SOBP; Sine oculis-binding protein

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      107490117..107661306
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011535920.3XP_011534222.1  sine oculis-binding protein homolog isoform X1

      See identical proteins and their annotated locations for XP_011534222.1

      Conserved Domains (1) summary
      pfam15279
      Location:275575
      SOBP; Sine oculis-binding protein
    2. XM_047418962.1XP_047274918.1  sine oculis-binding protein homolog isoform X2

    3. XM_047418963.1XP_047274919.1  sine oculis-binding protein homolog isoform X3

      UniProtKB/Swiss-Prot
      A7XYQ1, B0QZ12, Q5BJD4, Q8N2B2
    4. XM_047418964.1XP_047274920.1  sine oculis-binding protein homolog isoform X4

    5. XM_047418965.1XP_047274921.1  sine oculis-binding protein homolog isoform X5

    6. XM_047418968.1XP_047274924.1  sine oculis-binding protein homolog isoform X6

    7. XM_047418967.1XP_047274923.1  sine oculis-binding protein homolog isoform X5

    8. XM_047418966.1XP_047274922.1  sine oculis-binding protein homolog isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      108669050..108840201
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355763.1XP_054211738.1  sine oculis-binding protein homolog isoform X1

    2. XM_054355764.1XP_054211739.1  sine oculis-binding protein homolog isoform X2

    3. XM_054355765.1XP_054211740.1  sine oculis-binding protein homolog isoform X3

    4. XM_054355766.1XP_054211741.1  sine oculis-binding protein homolog isoform X4

    5. XM_054355767.1XP_054211742.1  sine oculis-binding protein homolog isoform X5

    6. XM_054355769.1XP_054211744.1  sine oculis-binding protein homolog isoform X6

    7. XM_054355768.1XP_054211743.1  sine oculis-binding protein homolog isoform X5