Format

Send to:

Choose Destination

SPATA5 spermatogenesis associated 5 [ Homo sapiens (human) ]

Gene ID: 166378, updated on 20-Mar-2020

Summary

Official Symbol
SPATA5provided by HGNC
Official Full Name
spermatogenesis associated 5provided by HGNC
Primary source
HGNC:HGNC:18119
See related
Ensembl:ENSG00000145375 MIM:613940
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AFG2; SPAF; EHLMRS
Summary
This gene encodes a member of the ATPase associated with diverse activities family, whose members are defined by a highly conserved ATPase domain. Members of this family participate in diverse cellular processes that include membrane fusion, DNA replication, microtubule severing, and protein degradation. The protein encoded by this gene has a putative mitochondrial targeting sequence and has been proposed to function in maintenance of mitochondrial function and integrity during mouse spermatogenesis. Allelic variants in this gene have been associated with epilepsy, hearing loss, and cognitive disability syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See SPATA5 in Genome Data Viewer
Location:
4q28.1
Exon count:
22
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (122923070..123319433)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (123844225..124240605)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein S26 pseudogene 23 Neighboring gene fibroblast growth factor 2 Neighboring gene Sharpr-MPRA regulatory region 4593 Neighboring gene nudix hydrolase 6 Neighboring gene coilin pseudogene 2 Neighboring gene uncharacterized LOC105377404 Neighboring gene sprouty RTK signaling antagonist 1

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Epilepsy, hearing loss, and mental retardation syndrome
MedGen: C4225276 OMIM: 616577 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study identifies two novel genomic regions in irritable bowel syndrome.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
brain development IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
ATPase family protein 2 homolog
Names
ATPase family gene 2 homolog
spermatogenesis associated factor SPAF
spermatogenesis-associated factor protein
spermatogenesis-associated protein 5
NP_001304728.1
NP_001332785.1
NP_660208.2
XP_011529980.1
XP_011529981.1
XP_016863314.1
XP_016863315.1
XP_016863316.1
XP_016863317.1
XP_016863318.1
XP_016863319.1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_051570.1 RefSeqGene

    Range
    5009..401364
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001317799.2NP_001304728.1  ATPase family protein 2 homolog isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, lacks several exons in the 3' coding region and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC109357, AK091384, BC048217, DA619323
    UniProtKB/Swiss-Prot
    Q8NB90
    Related
    ENST00000422835.2
    Conserved Domains (4) summary
    smart00382
    Location:386524
    AAA; ATPases associated with a variety of cellular activities
    smart01073
    Location:46132
    CDC48_N; Cell division protein 48 (CDC48) N-terminal domain
    pfam00004
    Location:389522
    AAA; ATPase family associated with various cellular activities (AAA)
    cl21455
    Location:663694
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  2. NM_001345856.2NP_001332785.1  ATPase family protein 2 homolog isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate, in-frame splice site in the 5' coding region compared to variant 1. It encodes isoform 3, which is shorter than isoform 1.
    Source sequence(s)
    AC021205, AC026402, AC109357
  3. NM_145207.3NP_660208.2  ATPase family protein 2 homolog isoform 1

    See identical proteins and their annotated locations for NP_660208.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC026402, AK091384, AL832175, DA619323
    Consensus CDS
    CCDS3730.1
    UniProtKB/Swiss-Prot
    Q8NB90
    Related
    ENSP00000274008.3, ENST00000274008.5
    Conserved Domains (3) summary
    COG0464
    Location:370882
    SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    pfam00004
    Location:664796
    AAA; ATPase family associated with various cellular activities (AAA)
    cl21693
    Location:65133
    CDC48_N; Cell division protein 48 (CDC48), N-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    122923070..123319433
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531678.2XP_011529980.1  ATPase family protein 2 homolog isoform X2

    Conserved Domains (3) summary
    smart01073
    Location:46132
    CDC48_N; Cell division protein 48 (CDC48) N-terminal domain
    COG0464
    Location:369905
    SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    pfam00004
    Location:687819
    AAA; ATPase family associated with various cellular activities (AAA)
  2. XM_017007825.1XP_016863314.1  ATPase family protein 2 homolog isoform X1

  3. XM_017007826.1XP_016863315.1  ATPase family protein 2 homolog isoform X3

  4. XM_017007827.2XP_016863316.1  ATPase family protein 2 homolog isoform X4

  5. XM_011531679.3XP_011529981.1  ATPase family protein 2 homolog isoform X6

    UniProtKB/Swiss-Prot
    Q8NB90
    Conserved Domains (4) summary
    smart00382
    Location:387525
    AAA; ATPases associated with a variety of cellular activities
    COG1222
    Location:608779
    RPT1; ATP-dependent 26S proteasome regulatory subunit [Posttranslational modification, protein turnover, chaperones]
    pfam00004
    Location:390523
    AAA; ATPase family associated with various cellular activities (AAA)
    cl21693
    Location:65133
    CDC48_N; Cell division protein 48 (CDC48), N-terminal domain
  6. XM_017007830.1XP_016863319.1  ATPase family protein 2 homolog isoform X8

  7. XM_017007828.1XP_016863317.1  ATPase family protein 2 homolog isoform X5

  8. XM_017007829.1XP_016863318.1  ATPase family protein 2 homolog isoform X7

RNA

  1. XR_001741151.1 RNA Sequence

Support Center