Aliases for SUSD1 Gene

Aliases for SUSD1 Gene

  • Sushi Domain Containing 1 2 3 5
  • Sushi Domain-Containing Protein 1 3 4
  • DKFZP761E1824 2
  • SUSD1 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 Seckel Syndrome 1 and Carpenter Syndrome 1. Gene Ontology (GO) annotations related to this gene include calcium ion binding.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SUSD1 Gene

Genomics for SUSD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SUSD1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J112172 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 284.4 +0.4 412 4.6 TBP MNT IKZF1 SMAD5 BHLHE40 ELF1 ZIC2 ZNF395 REST GTF2E2 SUSD1 ENSG00000225513 RPL29P20 lnc-PTBP3-3 FAM225B UGCG
GH09J112330 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 28.5 -157.3 -157286 5.2 TBP MXD4 MNT IKZF1 SMAD5 HES1 CTCF BHLHE40 ZBTB7B ELF1 HSALNG0073763 PTBP3 SUSD1 PRPF4 ENSG00000225513 RPL32P22 HSDL2 piR-57135-123
GH09J112308 Enhancer 1 Ensembl ENCODE 31.8 -137.9 -137886 11.2 MNT FOXA2 VEZF1 ZFP91 NKRF ZNF316 ADNP PRDM10 FOXP1 NCOA2 SUSD1 PTBP3 PRPF4 ENSG00000225513 HSDL2 ENSG00000259953 LRRC37A5P piR-57135-123
GH09J112167 Enhancer 1 ENCODE dbSUPER 26.4 +5.4 5375 5.2 IKZF1 ZNF217 VEZF1 TAL1 CTBP1 RELA ZNF316 MLLT1 SMARCA4 HDAC2 ENSG00000200261 SUSD1 ENSG00000225513 lnc-PTBP3-3 UGCG
GH09J112223 Enhancer 1.1 Ensembl ENCODE 20.1 -49.4 -49420 2.1 MNT IKZF1 BHLHE40 NONO ARNT ZNF395 REST VEZF1 NBN GABPA SUSD1 ENSG00000225513 MK280633 lnc-HSDL2-1 PTBP3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SUSD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SUSD1

Top Transcription factor binding sites by QIAGEN in the SUSD1 gene promoter:
  • AhR
  • AML1a
  • Arnt
  • c-Myb
  • GATA-1
  • HNF-3beta
  • LUN-1
  • POU2F1
  • POU2F1a
  • Zic1

Genomic Locations for SUSD1 Gene

Latest Assembly
134,733 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
134,515 bases
Minus strand

(GRCh37/hg19 by Ensembl)
134,624 bases
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:
    Recommended name:
    Sushi domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • A1A4C5
    • A8KA03
    • Q5T8V6
    • Q5T8V7
    • Q6P9G7
    • Q8WU83
    • Q96DM9
    • Q9H6V2
    • Q9NTA7

    Protein attributes for SUSD1 Gene

    747 amino acids
    Molecular mass:
    82710 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAB15149.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB71259.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for SUSD1 Gene


neXtProt entry for SUSD1 Gene

Post-translational modifications for SUSD1 Gene

  • Glycosylation at Asn87, Asn112, Asn193, Asn253, Asn308, Asn348, Asn367, and Asn563
  • Ubiquitination at Lys686
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SUSD1 Gene

Domains & Families for SUSD1 Gene

Gene Families for SUSD1 Gene

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

Suggested Antigen Peptide Sequences for SUSD1 Gene

GenScript: Design optimal peptide antigens:
  • Sushi domain containing 1 (Q4VXJ3_HUMAN)
  • Sushi domain-containing protein 1 (SUSD1_HUMAN)
genes like me logo Genes that share domains with SUSD1: view

No data available for Graphical View of Domain Structure and 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 Models for research

miRNA for SUSD1 Gene

miRTarBase miRNAs that target SUSD1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SUSD1

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

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
peroxisome 1
mitochondrion 0
endoplasmic reticulum 0
golgi apparatus 0

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

PathCards logo

SuperPathways for SUSD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SUSD1 Gene


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

mRNA/cDNA for SUSD1 Gene

11 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SUSD1

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: -
SP7: - -

Relevant External Links for SUSD1 Gene

GeneLoc Exon Structure for

Expression for SUSD1 Gene

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

Protein tissue co-expression partners for SUSD1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SUSD1

SOURCE GeneReport for Unigene cluster for SUSD1 Gene:


Evidence on tissue expression from TISSUES for SUSD1 Gene

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

Primer products for research

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
(Pan troglodytes)
Mammalia SUSD1 30 31
  • 94.42 (n)
(Bos Taurus)
Mammalia SUSD1 30 31
  • 85.5 (n)
(Canis familiaris)
Mammalia SUSD1 30 31
  • 84.39 (n)
(Mus musculus)
Mammalia Susd1 30 17 31
  • 80.95 (n)
(Rattus norvegicus)
Mammalia Susd1 30
  • 76.24 (n)
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 65 (a)
-- 31
  • 65 (a)
-- 31
  • 49 (a)
(Monodelphis domestica)
Mammalia SUSD1 31
  • 57 (a)
(Gallus gallus)
Aves SUSD1 30 31
  • 58.67 (n)
(Anolis carolinensis)
Reptilia SUSD1 31
  • 42 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia susd1 30
  • 49.36 (n)
MGC75573 30
(Danio rerio)
Actinopterygii SUSD1 (2 of 3) 31
  • 33 (a)
SUSD1 (1 of 3) 31
  • 33 (a)
SUSD1 (3 of 3) 31
  • 29 (a)
Species where no ortholog for SUSD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

Gene Tree for SUSD1 (if available)
Gene Tree for SUSD1 (if available)
Evolutionary constrained regions (ECRs) for SUSD1: view image

Paralogs for SUSD1 Gene

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

  • H0Y6B2_HUMAN
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SUSD1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs115339119 Benign: not provided 112,157,606(-) G/A
NM_022486.5(SUSD1):c.111C>T (p.Asp37=)
rs143390223 Benign: not provided 112,143,473(-) G/A
NM_022486.5(SUSD1):c.524C>T (p.Thr175Ile)
rs146611081 Benign: not provided 112,111,717(-) C/T
NM_022486.5(SUSD1):c.1108G>A (p.Val370Met)
rs146843448 Likely Benign: not provided 112,041,911(-) C/T
NM_022486.5(SUSD1):c.2199G>A (p.Leu733=)
rs147151457 Likely Benign: not provided 112,078,557(-) G/A
NM_022486.5(SUSD1):c.1734C>T (p.Ser578=)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SUSD1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for SUSD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assays for research

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

Disorders for SUSD1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SUSD1 Gene - From: COP

Disorder Aliases PubMed IDs
seckel syndrome 1
  • sckl1
carpenter syndrome 1
  • crpt1
- elite association - COSMIC cancer census association via MalaCards
Search SUSD1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SUSD1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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
  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 41
  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 41
  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
  5. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4

Products for SUSD1 Gene

Sources for SUSD1 Gene