CSAG1 chondrosarcoma associated gene 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CSAG1provided by HGNC
Official Full Name: chondrosarcoma associated gene 1provided by HGNC
Primary source: HGNC:HGNC:24294
See related: Ensembl:ENSG00000198930 MIM:300944; AllianceGenome:HGNC:24294
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: CSAGE; CT24.1
Summary: This gene encodes a member of a family of tumor antigens. The protein is expressed in chondrosarcomas, but may also be expressed in normal tissues such as testis. Alternative splicing of this gene results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: all
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Genomic context

Location:: Xq28

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (152727484..152733721, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (150994063..151000300, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (151903242..151909518)

Chromosome X - NC_000023.11 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?

CSAG1 maintains the integrity of the mitotic centrosome in cells with defective p53.
Title: CSAG1 maintains the integrity of the mitotic centrosome in cells with defective p53.

Submit: New GeneRIF Correction

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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Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in centrosome cycle	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in spindle pole	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: chondrosarcoma-associated gene 1 protein

Names: cancer/testis antigen 24.1; cancer/testis antigen CSAGE; cancer/testis antigen family 24, member 1; putative chondrosarcoma-associated gene 1 protein

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.

Genomic

NG_013228.2 RefSeqGene

Range

5014..11251

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001102576.3 → NP_001096046.2 chondrosarcoma-associated gene 1 protein

See identical proteins and their annotated locations for NP_001096046.2

Status: REVIEWED

Description

Transcript Variant: This variant (c) differs in the 5' UTR compared to variant a. Variants a and c both encode the same protein.

Source sequence(s)

AF195880, BC059947

Consensus CDS

CCDS76047.1

UniProtKB/Swiss-Prot

A0A024RC18, A6NE22, Q6PB30

Related

ENSP00000396520.2, ENST00000452779.3
NM_153478.3 → NP_705611.2 chondrosarcoma-associated gene 1 protein

See identical proteins and their annotated locations for NP_705611.2

Status: REVIEWED

Description

Transcript Variant: This variant (a) represents the longer transcript. Variants a and c both encode the same protein.

Source sequence(s)

AF195880, AF268419, BC059947

Consensus CDS

CCDS76047.1

UniProtKB/Swiss-Prot

A0A024RC18, A6NE22, Q6PB30

Related

ENSP00000359310.3, ENST00000370287.7

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

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

152727484..152733721 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047441858.1 → XP_047297814.1 chondrosarcoma-associated gene 1 protein isoform X1
XM_047441859.1 → XP_047297815.1 chondrosarcoma-associated gene 1 protein isoform X1

Reference GRCh38.p14 PATCHES

Genomic

NW_025791818.1 Reference GRCh38.p14 PATCHES

Range

349888..356164

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054333335.1 → XP_054189310.1 chondrosarcoma-associated gene 1 protein isoform X1
XM_054333336.1 → XP_054189311.1 chondrosarcoma-associated gene 1 protein isoform X1