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    SRRD SRR1 domain containing [ Homo sapiens (human) ]

    Gene ID: 402055, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SRRDprovided by HGNC
    Official Full Name
    SRR1 domain containingprovided by HGNC
    Primary source
    HGNC:HGNC:33910
    See related
    Ensembl:ENSG00000100104 MIM:602254; AllianceGenome:HGNC:33910
    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
    SRR1L; HC/HCC
    Summary
    Predicted to be involved in regulation of circadian rhythm and regulation of heme biosynthetic process. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 8.9), testis (RPKM 8.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SRRD in Genome Data Viewer
    Location:
    22q12.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (26483877..26494658)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (26946287..26957060)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (26879843..26890624)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13567 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13568 Neighboring gene Sharpr-MPRA regulatory region 14748 Neighboring gene RPS3A pseudogene 55 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:26836513-26836669 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr22:26837982-26839181 Neighboring gene aspartate beta-hydroxylase domain containing 2 Neighboring gene HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:26866926-26868125 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13569 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18791 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr22:26889254-26890453 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13570 Neighboring gene tuftelin interacting protein 11 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:26902046-26903245 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18792 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:26908724-26909261 Neighboring gene TFIP11 divergent transcript Neighboring gene tyrosylprotein sulfotransferase 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:26937311-26937812 Neighboring gene Sharpr-MPRA regulatory region 3066 Neighboring gene microRNA 548j

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. CRISPR screen for protein inclusion formation uncovers a role for SRRD in the regulation of intermediate filament dynamics and aggresome assembly. Sweeney KM, et al. PLoS Genet, 2024 Feb. PMID 38315730, Free PMC Article
    2. Molecular cloning of a novel mRNA highly expressed in haemochromatotic human liver and proliferating cells. Kedar V, et al. Biochem Biophys Res Commun, 1996 Sep 13. PMID 8806657
    3. The DNA sequence of human chromosome 22. Dunham I, et al. Nature, 1999 Dec 2. PMID 10591208
    4. Sequential genome-wide CRISPR-Cas9 screens identify genes regulating cell-surface expression of tetraspanins. Yang J, et al. Cell Rep, 2023 Feb 28. PMID 36724073
    5. Integrative oncogene-dependency mapping identifies RIT1 vulnerabilities and synergies in lung cancer. Vichas A, et al. Nat Commun, 2021 Aug 9. PMID 34373451, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CRISPR screen for protein inclusion formation uncovers a role for SRRD in the regulation of intermediate filament dynamics and aggresome assembly.
      Title: CRISPR screen for protein inclusion formation uncovers a role for SRRD in the regulation of intermediate filament dynamics and aggresome assembly.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in heme biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of circadian rhythm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of heme biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in rhythmic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm 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
    SRR1-like protein
    Names
    SRR1 domain-containing protein
    hepatocellular carcinoma complicating hemochromatosis

    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_001013694.3 → NP_001013716.2  SRR1-like protein

      See identical proteins and their annotated locations for NP_001013716.2

      Status: VALIDATED

      Source sequence(s)
      BC066962, BQ189353, DA325985, KF457388, Z99714
      Consensus CDS
      CCDS42995.1
      UniProtKB/Swiss-Prot
      Q6NXP8, Q9UH36
      UniProtKB/TrEMBL
      B4DF37
      Related
      ENSP00000215917.6, ENST00000215917.11
      Conserved Domains (1) summary
      cl06844
      Location:139 → 298
      SRR1; SRR1

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      26483877..26494658
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530178.3 → XP_011528480.1  SRR1-like protein isoform X1

      Conserved Domains (1) summary
      cl06844
      Location:68 → 227
      SRR1; SRR1

    2. XM_017028799.3 → XP_016884288.1  SRR1-like protein isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      26946287..26957060
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325613.1 → XP_054181588.1  SRR1-like protein isoform X1

    2. XM_054325614.1 → XP_054181589.1  SRR1-like protein isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UH36.1 GenPept UniProtKB/Swiss-Prot:Q9UH36

    Gene LinkOut

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

    Chemical Information
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