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    SPRR3 small proline rich protein 3 [ Homo sapiens (human) ]

    Gene ID: 6707, updated on 13-Nov-2024

    Summary

    Official Symbol
    SPRR3provided by HGNC
    Official Full Name
    small proline rich protein 3provided by HGNC
    Primary source
    HGNC:HGNC:11268
    See related
    Ensembl:ENSG00000163209 MIM:182271; AllianceGenome:HGNC:11268
    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
    Summary
    Predicted to enable structural molecule activity. Predicted to be involved in wound healing. Located in Golgi apparatus and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward esophagus (RPKM 6973.3) See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See SPRR3 in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (153001749..153003856)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (152138366..152140508)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (152974225..152976332)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene small proline rich protein 4 Neighboring gene small proline rich protein 1A Neighboring gene uncharacterized LOC105371446 Neighboring gene small nucleolar RNA SNORA31 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:152995252-152996451 Neighboring gene small proline rich protein 1B

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in Golgi apparatus PubMed 
    located_in cornified envelope  
    located_in cytosol  
    located_in extracellular exosome PubMed 
    located_in perinuclear region of cytoplasm PubMed 

    General protein information

    Preferred Names
    small proline-rich protein 3
    Names
    22 kDa pancornulin
    cornifin beta
    esophagin

    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.

    mRNA and Protein(s)

    1. NM_001097589.2NP_001091058.1  small proline-rich protein 3

      See identical proteins and their annotated locations for NP_001091058.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL356867, BM955458, DA763011
      Consensus CDS
      CCDS1033.1
      UniProtKB/Swiss-Prot
      A5YKK8, B2R4G8, D3DV32, O75597, Q4ZGI7, Q5T525, Q8NET7, Q9UBC9, Q9UDG3
      Related
      ENSP00000295367.4, ENST00000295367.5
      Conserved Domains (1) summary
      pfam02389
      Location:38167
      Cornifin; Cornifin (SPRR) family
    2. NM_005416.3NP_005407.1  small proline-rich protein 3

      See identical proteins and their annotated locations for NP_005407.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL356867, BF826427, BM955458, DA451130
      Consensus CDS
      CCDS1033.1
      UniProtKB/Swiss-Prot
      A5YKK8, B2R4G8, D3DV32, O75597, Q4ZGI7, Q5T525, Q8NET7, Q9UBC9, Q9UDG3
      Related
      ENSP00000330391.3, ENST00000331860.7
      Conserved Domains (1) summary
      pfam02389
      Location:38167
      Cornifin; Cornifin (SPRR) 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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      153001749..153003856
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      152138366..152140508
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443702.1XP_047299658.1  small proline-rich protein 3 isoform X1

    2. XM_047443703.1XP_047299659.1  small proline-rich protein 3 isoform X1

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