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SUSD5 sushi domain containing 5 [ Homo sapiens (human) ]

Gene ID: 26032, updated on 3-Apr-2024

Summary

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Official Symbol
SUSD5provided by HGNC
Official Full Name
sushi domain containing 5provided by HGNC
Primary source
HGNC:HGNC:29061
See related
Ensembl:ENSG00000173705 MIM:619917; AllianceGenome:HGNC:29061
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
Summary
Predicted to enable hyaluronic acid binding activity. Predicted to be involved in Notch signaling pathway. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in brain (RPKM 4.0), gall bladder (RPKM 3.2) and 19 other tissues See more
Orthologs
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Genomic context

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Location:
3p22.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (33150043..33218810, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (33151801..33220578, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (33191535..33260302, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19645 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14183 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14184 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:33156217-33157208 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:33157792-33157940 Neighboring gene RNA, 7SL, cytoplasmic 296, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19646 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19647 Neighboring gene cartilage associated protein Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:33194307-33195506 Neighboring gene Sharpr-MPRA regulatory region 10469 Neighboring gene uncharacterized LOC124909362 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14185 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:33318889-33319056 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14186 Neighboring gene F-box and leucine rich repeat protein 2 Neighboring gene MPRA-validated peak4597 silencer Neighboring gene MPRA-validated peak4598 silencer Neighboring gene upstream binding protein 1 Neighboring gene RNA, U7 small nuclear 110 pseudogene

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. The DNA sequence, annotation and analysis of human chromosome 3. Muzny DM, et al. Nature, 2006 Apr 27. PMID 16641997
  2. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. Nagase T, et al. DNA Res, 1998 Feb 28. PMID 9628581
  3. Interrogating the protein interactomes of RAS isoforms identifies PIP5K1A as a KRAS-specific vulnerability. Adhikari H, et al. Nat Commun, 2018 Sep 7. PMID 30194290, Free PMC Article
  4. A proximity-dependent biotinylation map of a human cell. Go CD, et al. Nature, 2021 Jul. PMID 34079125
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article

See all (8) citations in PubMed

GeneRIFs: Gene References Into Functions

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

Clone Names

  • KIAA0527

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables hyaluronic acid binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in Notch signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
sushi domain-containing protein 5

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_015551.2 → NP_056366.1  sushi domain-containing protein 5 precursor

    See identical proteins and their annotated locations for NP_056366.1

    Status: VALIDATED

    Source sequence(s)
    AB011099, AC123900
    Consensus CDS
    CCDS46787.1
    UniProtKB/Swiss-Prot
    O60279
    UniProtKB/TrEMBL
    B4DJ06
    Related
    ENSP00000308727.3, ENST00000309558.8
    Conserved Domains (1) summary
    cd03521
    Location:39 → 133
    Link_domain_KIAA0527_like; Link_domain_KIAA0527_like; this domain is found in the human protein KIAA0527. Sequence-wise, it is highly similar to the link domain. The link domain is a hyaluronan-binding (HA) domain. KIAA0527 contains a single link module. The KIAA0527 gene was ...

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    33150043..33218810 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005265034.4 → XP_005265091.1  sushi domain-containing protein 5 isoform X1

    UniProtKB/TrEMBL
    B4DJ06
    Conserved Domains (1) summary
    cd03521
    Location:39 → 133
    Link_domain_KIAA0527_like; Link_domain_KIAA0527_like; this domain is found in the human protein KIAA0527. Sequence-wise, it is highly similar to the link domain. The link domain is a hyaluronan-binding (HA) domain. KIAA0527 contains a single link module. The KIAA0527 gene was ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    33151801..33220578 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054346125.1 → XP_054202100.1  sushi domain-containing protein 5 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O60279.3 GenPept UniProtKB/Swiss-Prot:O60279

Gene LinkOut

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