SPIN3 spindlin family member 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPIN3provided by HGNC
Official Full Name: spindlin family member 3provided by HGNC
Primary source: HGNC:HGNC:27272
See related: Ensembl:ENSG00000204271 AllianceGenome:HGNC:27272
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
Also known as: SPIN-3; TDRD27; bA445O16.1
Summary: Enables methylated histone binding activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to be located in membrane. Predicted to be active in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in brain (RPKM 4.7), prostate (RPKM 3.7) and 24 other tissues See more
Orthologs: all
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Genomic context

Location:: Xp11.21

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (56975120..56995541, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (56273946..56294627, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (57001553..57021974, complement)

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?

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

Function	Evidence Code	Pubs
enables methylated histone binding	IBA Inferred from Biological aspect of Ancestor more info
enables methylated histone binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in gamete generation	IEA Inferred from Electronic Annotation more info
involved_in regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: spindlin-3

Names: bA445O16.1 (DXF34); spindlin-like protein 3

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_001010862.3 → NP_001010862.2 spindlin-3

See identical proteins and their annotated locations for NP_001010862.2

Status: VALIDATED

Description

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

Source sequence(s)

AJ271379, AL139397, BX403408, DB151976

Consensus CDS

CCDS43963.1

UniProtKB/Swiss-Prot

B2RUW3, B7Z8W2, Q5JUX0, Q8N5D9

Related

ENSP00000364054.3, ENST00000374919.6

Conserved Domains (1) summary

pfam02513
Location:50 → 99

Spin-Ssty; Spin/Ssty Family

RNA

NR_027139.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) includes three alternate exons at its 3' end, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL139397, BC032490, DB151976

Related

ENST00000640131.1