Aliases for SRRD Gene

Aliases for SRRD Gene

  • SRR1 Domain Containing 2 3 5
  • SRR1L 2 3 4
  • Hepatocellular Carcinoma Complicating Hemochromatosis 2 3
  • SRR1 Domain-Containing Protein 3 4
  • SRR1-Like Protein 3 4
  • HC/HCC 2 3
  • SRRD 5

External Ids for SRRD Gene

Previous GeneCards Identifiers for SRRD Gene

  • GC22P025209
  • GC22P026879
  • GC22P009827

Summaries for SRRD Gene

GeneCards Summary for SRRD Gene

SRRD (SRR1 Domain Containing) is a Protein Coding gene. Diseases associated with SRRD include Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency.

UniProtKB/Swiss-Prot Summary for SRRD Gene

  • Plays a role in the regulation of heme biosynthesis and in the regulation of the expression of core clock genes.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SRRD Gene

Genomics for SRRD Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SRRD Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SRRD on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SRRD

Top Transcription factor binding sites by QIAGEN in the SRRD gene promoter:
  • AhR
  • Arnt
  • c-Myb
  • GR
  • GR-alpha
  • GR-beta
  • MyoD
  • Pax-3
  • Pax-5
  • STAT3

Genomic Locations for SRRD Gene

Genomic Locations for SRRD Gene
chr22:26,483,867-26,494,658
(GRCh38/hg38)
Size:
10,792 bases
Orientation:
Plus strand
chr22:26,879,843-26,890,624
(GRCh37/hg19)
Size:
10,782 bases
Orientation:
Plus strand

Genomic View for SRRD Gene

Genes around SRRD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SRRD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SRRD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SRRD Gene

Proteins for SRRD Gene

  • Protein details for SRRD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UH36-SRR1L_HUMAN
    Recommended name:
    SRR1-like protein
    Protein Accession:
    Q9UH36
    Secondary Accessions:
    • Q6NXP8

    Protein attributes for SRRD Gene

    Size:
    339 amino acids
    Molecular mass:
    38573 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SRRD Gene

Post-translational modifications for SRRD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SRRD Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SRRD Gene

Domains & Families for SRRD Gene

Gene Families for SRRD Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SRRD Gene

InterPro:
Blocks:
  • SRR1
ProtoNet:

Suggested Antigen Peptide Sequences for SRRD Gene

GenScript: Design optimal peptide antigens:
  • SRR1 domain-containing protein (SRR1L_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UH36

UniProtKB/Swiss-Prot:

SRR1L_HUMAN :
  • Belongs to the SRR1 family.
Family:
  • Belongs to the SRR1 family.
genes like me logo Genes that share domains with SRRD: view

Function for SRRD Gene

Molecular function for SRRD Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the regulation of heme biosynthesis and in the regulation of the expression of core clock genes.
UniProtKB/Swiss-Prot Induction:
Up-regulated by hemin and 5-aminolevulinic acid.

Phenotypes From GWAS Catalog for SRRD Gene

Phenotypes for SRRD Gene

genes like me logo Genes that share phenotypes with SRRD: view

Animal Model Products

CRISPR Products

miRNA for SRRD Gene

miRTarBase miRNAs that target SRRD

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SRRD

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SRRD Gene

Localization for SRRD Gene

Subcellular locations from UniProtKB/Swiss-Prot for SRRD Gene

Cytoplasm. Note=Also found in intracellular organelles. {ECO:0000250 UniProtKB:Q8K2M3}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SRRD gene
Compartment Confidence
nucleus 3
cytosol 3
mitochondrion 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SRRD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IBA,ISS --
genes like me logo Genes that share ontologies with SRRD: view

Pathways & Interactions for SRRD Gene

PathCards logo

SuperPathways for SRRD Gene

No Data Available

Interacting Proteins for SRRD Gene

STRING Interaction Network Preview (showing top 2 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000215917 Q9UH36-SRR1L_HUMAN for SRRD Gene via STRING IID

Gene Ontology (GO) - Biological Process for SRRD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006783 heme biosynthetic process IEA --
GO:0007017 microtubule-based process IBA 21873635
GO:0007623 circadian rhythm IBA 21873635
GO:0042752 regulation of circadian rhythm ISS --
GO:0048511 rhythmic process IEA --
genes like me logo Genes that share ontologies with SRRD: view

No data available for Pathways by source and SIGNOR curated interactions for SRRD Gene

Drugs & Compounds for SRRD Gene

No Compound Related Data Available

Transcripts for SRRD Gene

mRNA/cDNA for SRRD Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SRRD

Alternative Splicing Database (ASD) splice patterns (SP) for SRRD Gene

No ASD Table

Relevant External Links for SRRD Gene

GeneLoc Exon Structure for
SRRD

Expression for SRRD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SRRD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SRRD Gene

This gene is overexpressed in Prostate (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SRRD Gene



Protein tissue co-expression partners for SRRD Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SRRD

SOURCE GeneReport for Unigene cluster for SRRD Gene:

Hs.709914

Evidence on tissue expression from TISSUES for SRRD Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with SRRD: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SRRD Gene

Orthologs for SRRD Gene

This gene was present in the common ancestor of animals.

Orthologs for SRRD Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SRRD 30 31
  • 98.9 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SRRD 30 31
  • 83.46 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SRRD 30 31
  • 78.05 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Srrd 30 17 31
  • 74.39 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Srrd 30
  • 72.77 (n)
Oppossum
(Monodelphis domestica)
Mammalia SRRD 31
  • 54 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SRRD 30 31
  • 62.9 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia srrd 30
  • 55.75 (n)
Zebrafish
(Danio rerio)
Actinopterygii srrd 30 31
  • 58.08 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002668 30
  • 47.87 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG7988 30 31
  • 42.48 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 33 (a)
OneToOne
Species where no ortholog for SRRD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SRRD Gene

ENSEMBL:
Gene Tree for SRRD (if available)
TreeFam:
Gene Tree for SRRD (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SRRD: view image

Paralogs for SRRD Gene

No data available for Paralogs for SRRD Gene

Variants for SRRD Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SRRD Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs66831137 Benign: not specified 26,483,980(+) GGAGGCGGCGCCCCGG INFRAME_DELETION
rs4820682 - p.Ala99Thr

Additional dbSNP identifiers (rs#s) for SRRD Gene

Structural Variations from Database of Genomic Variants (DGV) for SRRD Gene

Variant ID Type Subtype PubMed ID
nsv7350 OTHER inversion 18451855

Variation tolerance for SRRD Gene

Residual Variation Intolerance Score: 60.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.70; 14.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SRRD Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SRRD

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SRRD Gene

Disorders for SRRD Gene

MalaCards: The human disease database

(1) MalaCards diseases for SRRD Gene - From: DISEASES

Disorder Aliases PubMed IDs
dystonia, dopa-responsive, due to sepiapterin reductase deficiency
  • sepiapterin reductase deficiency; srd
- elite association - COSMIC cancer census association via MalaCards
Search SRRD in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with SRRD: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SRRD Gene

Publications for SRRD Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  2. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 3 4
  3. The novel heme-dependent inducible protein, SRRD regulates heme biosynthesis and circadian rhythms. (PMID: 28802827) Adachi Y … Taketani S (Archives of biochemistry and biophysics 2017) 4
  4. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) Kırlı K … Görlich D (eLife 2015) 3
  5. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A … Hentze MW (Cell 2012) 3

Products for SRRD Gene

Sources for SRRD Gene