MISFA mitochondrial sheath formation associated [Homo sapiens (human)] - Gene

Summary

Official Symbol: MISFAprovided by HGNC
Official Full Name: mitochondrial sheath formation associatedprovided by HGNC
Primary source: HGNC:HGNC:44122
See related: Ensembl:ENSG00000247595 MIM:620764; AllianceGenome:HGNC:44122
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: Kastor; Polluks; SPTY2D1OS; SPTY2D1-AS1
Summary: Predicted to be involved in sperm mitochondrial sheath assembly. Predicted to be located in mitochondrial outer membrane. [provided by Alliance of Genome Resources, Jan 2025]
Expression: Ubiquitous expression in bone marrow (RPKM 23.1), testis (RPKM 16.4) and 25 other tissues See more
Orthologs: all
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Genomic context

Location:: 11p15.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (18599789..18609874)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (18697880..18707967)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (18621336..18631421)

Chromosome 11 - NC_000011.10 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification of an interactome network between lncRNAs and miRNAs in thyroid cancer reveals SPTY2D1-AS1 as a new tumor suppressor.
Title: Identification of an interactome network between lncRNAs and miRNAs in thyroid cancer reveals SPTY2D1-AS1 as a new tumor suppressor.

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Phenotypes

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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)

General gene information

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Gene Ontology Provided by GOA

Component	Evidence Code	Pubs
located_in mitochondrial outer membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: mitochondrial sheath formation-associated protein

Names: SPTY2D1 antisense RNA 1 (non-protein coding); SPTY2D1 opposite strand; putative transmembrane protein SPTY2D1OS

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_001355570.4 → NP_001342499.1 mitochondrial sheath formation-associated protein

Status: VALIDATED

Source sequence(s)

AC112694

Consensus CDS

CCDS86186.1

UniProtKB/Swiss-Prot

A0A0U1RQZ7, A0A0U1RRN3

UniProtKB/TrEMBL

A0A0U1RQQ8

Related

ENSP00000489616.1, ENST00000635674.2