smc1a structural maintenance of chromosomes 1A [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: smc1aprovided by ZNC
Official Full Name: structural maintenance of chromosomes 1Aprovided by ZNC
Primary source: ZFIN:ZDB-GENE-090506-9
See related: Ensembl:ENSDARG00000055754 AllianceGenome:ZFIN:ZDB-GENE-090506-9
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: sb:eu719
Summary: Predicted to enable DNA binding activity. Acts upstream of or within central nervous system development and developmental growth. Predicted to be located in chromosome. Predicted to be part of meiotic cohesin complex. Predicted to be active in nucleus. Is expressed in central nervous system and tail bud. Human ortholog(s) of this gene implicated in Cornelia de Lange syndrome 2 and developmental and epileptic encephalopathy. Orthologous to human SMC1A (structural maintenance of chromosomes 1A). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: all
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Genomic context

Location:: chromosome: 23

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	23	NC_007134.7 (28693282..28713982)
105	previous assembly	GRCz10 (GCF_000002035.5)	23	NC_007134.6 (28766741..28787441)

Chromosome 23 - NC_007134.7 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: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

zebrafish embryos and SMC1A-mutated patient-derived fibroblasts were used to analyze abnormalities induced by SMC1A loss of function
Title: CyclinD1 Down-Regulation and Increased Apoptosis Are Common Features of Cohesinopathies.

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables DNA binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell cycle	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within central nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within chromosome organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within developmental growth	IGI Inferred from Genetic Interaction more info	PubMed
involved_in sister chromatid cohesion	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within sister chromatid cohesion	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromosome	IEA Inferred from Electronic Annotation more info
part_of cohesin complex	IEA Inferred from Electronic Annotation more info
part_of meiotic cohesin complex	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: structural maintenance of chromosomes protein 1A

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_001161631.2 → NP_001155103.1 structural maintenance of chromosomes protein 1A

Status: VALIDATED

Source sequence(s)

CR354431

UniProtKB/TrEMBL

A0A8M1NUL7, E7F0X6

Related

ENSDARP00000072610.4, ENSDART00000078148.5

Conserved Domains (3) summary

cd03275
Location:4 → 148

ABC_SMC1_euk; ATP-binding cassette domain of eukaryotic SMC1 proteins

smart00968
Location:513 → 628

SMC_hinge; SMC proteins Flexible Hinge Domain

pfam02463
Location:3 → 1208

SMC_N; RecF/RecN/SMC N terminal domain