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SRRD SRR1 domain containing [ Homo sapiens (human) ]

Gene ID: 402055, updated on 5-Mar-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 microtubule-based process; regulation of circadian rhythm; and regulation of heme biosynthetic process. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 8.9), testis (RPKM 8.0) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
22q12.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (26483877..26494658)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (26946287..26957060)
105.20220307 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

Expression

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  • 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

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Related articles in PubMed

  1. 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
  2. The DNA sequence of human chromosome 22. Dunham I, et al. Nature, 1999 Dec 2. PMID 10591208
  3. 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
  4. 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
  5. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. Kırlı K, et al. Elife, 2015 Dec 17. PMID 26673895, Free PMC Article

See all (12) 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)

Genotypes

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_2023_10

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

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