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SPATA48 spermatogenesis associated 48 [ Homo sapiens (human) ]

Gene ID: 100130988, updated on 13-Oct-2022

Summary

Official Symbol
SPATA48provided by HGNC
Official Full Name
spermatogenesis associated 48provided by HGNC
Primary source
HGNC:HGNC:22564
See related
Ensembl:ENSG00000164500 AllianceGenome:HGNC:22564
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
C7orf72
Expression
Restricted expression toward testis (RPKM 1.9) See more
Orthologs
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Genomic context

See SPATA48 in Genome Data Viewer
Location:
7p12.2
Exon count:
10
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (50095883..50159256)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (50257048..50320459)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (50135479..50198852)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene zona pellucida binding protein Neighboring gene G protein nucleolar 2 pseudogene 1 Neighboring gene uncharacterized LOC124901630 Neighboring gene conserved acetylation island sequence 3 enhancer Neighboring gene IKAROS family zinc finger 1 Neighboring gene uncharacterized LOC124901631

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 molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
 
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in spermatogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in spermatogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
 

General protein information

Preferred Names
spermatogenesis-associated protein 48
Names
uncharacterized protein C7orf72

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_001161834.3NP_001155306.3  spermatogenesis-associated protein 48

    Status: VALIDATED

    Source sequence(s)
    AC020743, AC034148
    Consensus CDS
    CCDS47585.1
    UniProtKB/Swiss-Prot
    A6NDX9
    Related
    ENSP00000297001.7, ENST00000297001.7
    Conserved Domains (1) summary
    pfam15073
    Location:307434
    DUF4540; Domain of unknown function (DUF4540)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    50095883..50159256
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515052.2XP_011513354.1  spermatogenesis-associated protein 48 isoform X1

    Conserved Domains (1) summary
    pfam15073
    Location:307420
    DUF4540; Domain of unknown function (DUF4540)
  2. XM_011515053.3XP_011513355.1  spermatogenesis-associated protein 48 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    50257048..50320459
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)