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

Summary

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 located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in brain (RPKM 4.0), gall bladder (RPKM 3.2) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p22.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (33150043..33218810, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (33151801..33220578, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (33191535..33260302, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D3S4525 (e-PCR), detects polymorphism
- UniSTS:10211

D3S1745 (e-PCR)
- UniSTS:51439

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)

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_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

33150043..33218810 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...