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Aliases for SUSD1 Gene

Aliases for SUSD1 Gene

  • Sushi Domain Containing 1 2 3 5

External Ids for SUSD1 Gene

Previous GeneCards Identifiers for SUSD1 Gene

  • GC09M110182
  • GC09M111882
  • GC09M113842
  • GC09M114803
  • GC09M084401

Summaries for SUSD1 Gene

GeneCards Summary for SUSD1 Gene

SUSD1 (Sushi Domain Containing 1) is a Protein Coding gene. Diseases associated with SUSD1 include Tic Disorder. GO annotations related to this gene include calcium ion binding.

Additional gene information for SUSD1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SUSD1 Gene

Genomics for SUSD1 Gene

Regulatory Elements for SUSD1 Gene

Enhancers for SUSD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H112172 1.9 FANTOM5 Ensembl ENCODE dbSUPER 34.5 +0.4 417 4 HDGF PKNOX1 FOXA2 ARID4B ZNF766 GLIS2 ELK1 RUNX3 REST KAT8 SUSD1 FAM225B RPL29P20
GH09H112167 1.4 Ensembl ENCODE dbSUPER 26.3 +5.4 5381 5 HDAC1 HDGF TBL1XR1 NFRKB NFXL1 RFX5 TCF12 GATA2 RCOR1 ATF7 SUSD1 ENSG00000200261 GC09M112174
GH09H112330 1.1 ENCODE 23.1 -157.3 -157312 4 PKNOX1 ARID4B SIN3A ZBTB7B YY1 ZNF766 ZNF143 ZNF207 SP3 SP5 PRPF4 SUSD1 RPL29P20 RPL32P22 HSDL2 PTBP3 HSPE1P28
GH09H112248 0.8 Ensembl ENCODE 30.4 -74.1 -74066 2 JUN IKZF1 ZNF24 PRDM1 IKZF2 SUSD1 RPL29P20 GC09P112253 RN7SL57P
GH09H112233 0.8 Ensembl ENCODE 29.3 -58.5 -58482 0 TEAD1 CEBPA CEBPB CEBPG TEAD3 SUSD1 RPL29P20 RN7SL57P PIR53089
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SUSD1 on UCSC Golden Path with GeneCards custom track

Promoters for SUSD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000239933 320 1201 ARID4B ZNF766 GLIS2 ELK1 RUNX3 KAT8 SMARCA4 GLIS1 NR2C1 KDM1A

Genomic Location for SUSD1 Gene

Chromosome:
9
Start:
112,040,781 bp from pter
End:
112,175,520 bp from pter
Size:
134,740 bases
Orientation:
Minus strand

Genomic View for SUSD1 Gene

Genes around SUSD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SUSD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SUSD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SUSD1 Gene

Proteins for SUSD1 Gene

  • Protein details for SUSD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UWL2-SUSD1_HUMAN
    Recommended name:
    Sushi domain-containing protein 1
    Protein Accession:
    Q6UWL2
    Secondary Accessions:
    • A1A4C5
    • A8KA03
    • Q5T8V6
    • Q5T8V7
    • Q6P9G7
    • Q8WU83
    • Q96DM9
    • Q9H6V2
    • Q9NTA7

    Protein attributes for SUSD1 Gene

    Size:
    747 amino acids
    Molecular mass:
    82710 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB15149.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB71259.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAI12348.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI95300.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for SUSD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SUSD1 Gene

Post-translational modifications for SUSD1 Gene

  • Ubiquitination at posLast=686686
  • Glycosylation at Asn87, posLast=112112, posLast=193193, posLast=253253, Asn308, posLast=348348, Asn367, and Asn563
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SUSD1 Gene

Domains & Families for SUSD1 Gene

Gene Families for SUSD1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for SUSD1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SUSD1: view

No data available for UniProtKB/Swiss-Prot for SUSD1 Gene

Function for SUSD1 Gene

Phenotypes From GWAS Catalog for SUSD1 Gene

Gene Ontology (GO) - Molecular Function for SUSD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with SUSD1: view
genes like me logo Genes that share phenotypes with SUSD1: view

Animal Model Products

CRISPR Products

miRNA for SUSD1 Gene

miRTarBase miRNAs that target SUSD1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SUSD1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SUSD1 Gene

Localization for SUSD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SUSD1 Gene

Membrane; Single-pass type I membrane protein.

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 SUSD1 gene
Compartment Confidence
plasma membrane 3
cytoskeleton 2
nucleus 2
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SUSD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SUSD1: view

Pathways & Interactions for SUSD1 Gene

SuperPathways for SUSD1 Gene

No Data Available

Interacting Proteins for SUSD1 Gene

Gene Ontology (GO) - Biological Process for SUSD1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SUSD1 Gene

Drugs & Compounds for SUSD1 Gene

No Compound Related Data Available

Transcripts for SUSD1 Gene

Unigene Clusters for SUSD1 Gene

Sushi domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SUSD1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SUSD1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b
SP1: - - - -
SP2: - - - - -
SP3: - - - - - -
SP4: - -
SP5: -
SP6:
SP7: - -

Relevant External Links for SUSD1 Gene

GeneLoc Exon Structure for
SUSD1
ECgene alternative splicing isoforms for
SUSD1

Expression for SUSD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SUSD1 Gene

mRNA differential expression in normal tissues according to GTEx for SUSD1 Gene

This gene is overexpressed in Whole Blood (x5.6).

Protein differential expression in normal tissues from HIPED for SUSD1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (48.1) and Platelet (20.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SUSD1 Gene



Protein tissue co-expression partners for SUSD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SUSD1 Gene:

SUSD1

SOURCE GeneReport for Unigene cluster for SUSD1 Gene:

Hs.494827

Evidence on tissue expression from TISSUES for SUSD1 Gene

  • Nervous system(4.3)
  • Blood(4.2)
genes like me logo Genes that share expression patterns with SUSD1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SUSD1 Gene

Orthologs for SUSD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SUSD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SUSD1 33 34
  • 94.42 (n)
cow
(Bos Taurus)
Mammalia SUSD1 33 34
  • 85.5 (n)
dog
(Canis familiaris)
Mammalia SUSD1 33 34
  • 84.39 (n)
mouse
(Mus musculus)
Mammalia Susd1 33 16 34
  • 80.95 (n)
rat
(Rattus norvegicus)
Mammalia Susd1 33
  • 76.24 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 65 (a)
OneToMany
-- 34
  • 65 (a)
OneToMany
-- 34
  • 49 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia SUSD1 34
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves SUSD1 34 33
  • 58.67 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SUSD1 34
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia susd1 33
  • 49.36 (n)
MGC75573 33
zebrafish
(Danio rerio)
Actinopterygii SUSD1 (1 of 3) 34
  • 33 (a)
OneToMany
SUSD1 (2 of 3) 34
  • 33 (a)
OneToMany
SUSD1 (3 of 3) 34
  • 29 (a)
OneToMany
Species where no ortholog for SUSD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 SUSD1 Gene

ENSEMBL:
Gene Tree for SUSD1 (if available)
TreeFam:
Gene Tree for SUSD1 (if available)

Paralogs for SUSD1 Gene

(2) SIMAP similar genes for SUSD1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with SUSD1: view

No data available for Paralogs for SUSD1 Gene

Variants for SUSD1 Gene

Sequence variations from dbSNP and Humsavar for SUSD1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1000013592 -- 112,094,256(+) AGATA(C/T)TAGTA intron-variant
rs1000039010 -- 112,157,653(+) AATGC(A/T)AGATG intron-variant
rs1000093212 -- 112,043,903(+) TCAAG(C/T)GATTC intron-variant
rs1000096938 -- 112,131,940(+) GTGGA(A/G)GAGAA intron-variant
rs1000099032 -- 112,118,390(+) AGTCT(C/T)AGATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SUSD1 Gene

Variant ID Type Subtype PubMed ID
dgv4126n106 CNV deletion 24896259
dgv494e215 CNV deletion 23714750
esv1083675 CNV insertion 17803354
esv2180224 CNV deletion 18987734
esv2552622 CNV deletion 19546169
esv2555427 CNV insertion 19546169
esv2675703 CNV deletion 23128226
esv2738945 CNV deletion 23290073
esv2762828 CNV gain 21179565
nsv1077175 CNV deletion 25765185
nsv1137498 CNV deletion 24896259
nsv415911 CNV deletion 16902084
nsv615195 CNV loss 21841781
nsv972800 CNV duplication 23825009

Variation tolerance for SUSD1 Gene

Residual Variation Intolerance Score: 39.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.55; 44.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SUSD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SUSD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SUSD1 Gene

Disorders for SUSD1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SUSD1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
tic disorder
  • tics
- elite association - COSMIC cancer census association via MalaCards
Search SUSD1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SUSD1

Genetic Association Database (GAD)
SUSD1
Human Genome Epidemiology (HuGE) Navigator
SUSD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SUSD1
genes like me logo Genes that share disorders with SUSD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SUSD1 Gene

Publications for SUSD1 Gene

  1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 2 3 4 60
  2. Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate. (PMID: 20583170) Letra A … Vieira AR (American journal of medical genetics. Part A 2010) 3 45 60
  3. Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. (PMID: 17362836) Schymick JC … Traynor BJ (The Lancet. Neurology 2007) 3 45 60
  4. Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach. (PMID: 16263699) Lewandrowski U … Sickmann A (Molecular & cellular proteomics : MCP 2006) 3 4 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for SUSD1 Gene

Sources for SUSD1 Gene

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