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SPATA46 spermatogenesis associated 46 [ Homo sapiens (human) ]

Gene ID: 284680, updated on 5-Jan-2022

Summary

Official Symbol
SPATA46provided by HGNC
Official Full Name
spermatogenesis associated 46provided by HGNC
Primary source
HGNC:HGNC:27648
See related
Ensembl:ENSG00000171722 MIM:617257
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
HSD20; C1orf111; TEKT2BP2
Summary
Predicted to be involved in fusion of sperm to egg plasma membrane involved in single fertilization and spermatogenesis. Predicted to be active in nuclear membrane. [provided by Alliance of Genome Resources, Nov 2021]
Expression
Restricted expression toward testis (RPKM 12.2) See more
Orthologs
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Genomic context

See SPATA46 in Genome Data Viewer
Location:
1q23.3
Exon count:
4
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (162373203..162376962, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (162342993..162346644, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene nitric oxide synthase 1 adaptor protein Neighboring gene RNA, 5S ribosomal pseudogene 61 Neighboring gene microRNA 556 Neighboring gene Sharpr-MPRA regulatory region 12682 Neighboring gene Sharpr-MPRA regulatory region 4437 Neighboring gene chromosome 1 open reading frame 226

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

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 cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in fertilization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in fusion of sperm to egg plasma membrane involved in single fertilization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in spermatogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
is_active_in nuclear membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nuclear membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
spermatogenesis-associated protein 46
Names
uncharacterized protein C1orf111

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)

  1. NM_182581.4NP_872387.2  spermatogenesis-associated protein 46

    See identical proteins and their annotated locations for NP_872387.2

    Status: VALIDATED

    Source sequence(s)
    AL512785, BC032957
    Consensus CDS
    CCDS1238.1
    UniProtKB/Swiss-Prot
    Q5T0L3
    Related
    ENSP00000356912.4, ENST00000367935.10

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    162373203..162376962 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005245103.3XP_005245160.1  spermatogenesis-associated protein 46 isoform X2

  2. XM_011509443.2XP_011507745.1  spermatogenesis-associated protein 46 isoform X1

    Conserved Domains (1) summary
    pfam17734
    Location:1244
    Spt46; Spermatogenesis-associated protein 46
  3. XM_011509444.1XP_011507746.1  spermatogenesis-associated protein 46 isoform X3

  4. XM_011509445.2XP_011507747.1  spermatogenesis-associated protein 46 isoform X4

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