SCAND1 SCAN domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SCAND1provided by HGNC
Official Full Name: SCAN domain containing 1provided by HGNC
Primary source: HGNC:HGNC:10566
See related: Ensembl:ENSG00000171222 MIM:610416; AllianceGenome:HGNC:10566
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RAZ1; SDP1
Summary: This gene encodes a SCAN box domain-containing protein. The SCAN domain is a highly conserved, leucine-rich motif of approximately 60 aa originally found within a subfamily of zinc finger proteins. This gene belongs to a family of genes that encode an isolated SCAN domain, but no zinc finger motif. This protein binds to and may regulate the function of the transcription factor myeloid zinc finger 1B. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]
Expression: Ubiquitous expression in kidney (RPKM 14.6), fat (RPKM 13.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q11.23

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (35953624..35959472, complement)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (37674621..37680469, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (34541546..34547394, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.
This result indicates that NY-REN-21 can function either as a homodimer or as a heterodimer with SCAND1.
Title: Spectroscopic characterization of the tumor antigen NY-REN-21 and identification of heterodimer formation with SCAND1.

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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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Homology

Homologs of the SCAND1 gene: The SCAND1 gene is conserved in chimpanzee, dog, cow, mouse, and rat.
Orthologs from Annotation Pipeline: 177 organisms have orthologs with human gene SCAND1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in nucleus	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: SCAN domain-containing protein 1

Names: SCAN-related protein RAZ1

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_001385710.1 → NP_001372639.1 SCAN domain-containing protein 1

Status: REVIEWED

Source sequence(s)

AL109965

UniProtKB/Swiss-Prot

Q6IAG7

Related

ENSP00000363103.3, ENST00000373991.3

Conserved Domains (1) summary

pfam02023
Location:104 → 162

SCAN; SCAN domain
NM_016558.4 → NP_057642.1 SCAN domain-containing protein 1

See identical proteins and their annotated locations for NP_057642.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes isoform 1.

Source sequence(s)

AF207829, AL109965, BU848795

Consensus CDS

CCDS13269.1

UniProtKB/Swiss-Prot

P57086, Q6IAG7

UniProtKB/TrEMBL

Q9NZG6

Related

ENSP00000481289.1, ENST00000615116.1

Conserved Domains (1) summary

pfam02023
Location:104 → 162

SCAN; SCAN domain
NM_033630.3 → NP_361012.3 SCAN domain-containing protein 1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and contains an extra segment in the 5' coding region, compared to variant 1. These differences cause translation initiation at an upstream start codon, compared to variant 1. The encoded protein (isoform 2) has a longer N-terminus, compared to isoform 1.

Source sequence(s)

AL109965

UniProtKB/Swiss-Prot

Q6IAG7

Related

ENSP00000301995.2, ENST00000305978.7

Conserved Domains (1) summary

pfam02023
Location:104 → 162

SCAN; SCAN domain