SPATA19 spermatogenesis associated 19 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPATA19provided by HGNC
Official Full Name: spermatogenesis associated 19provided by HGNC
Primary source: HGNC:HGNC:30614
See related: Ensembl:ENSG00000166118 MIM:609805; AllianceGenome:HGNC:30614
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: CT132; SPAS1; spergen1
Summary: Predicted to be involved in cell differentiation and spermatogenesis. Predicted to be located in mitochondrial outer membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward testis (RPKM 27.4) See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 11q25

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (133835930..133845513, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (133878224..133887807, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (133710526..133715408, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Investigated SPATA19 protein expression patterns in a panel of non-malignant samples and primary prostate cancer with or without benign prostatic hyperplasia tissues. SPATA19 was absent in all non-malignant tissues investigated (n=14) except testis and prostate tissues.
Title: Cancer/testis antigen SPATA19 is frequently expressed in benign prostatic hyperplasia and prostate cancer.
Of the prostate cancer samples, 10, 10, 23 and 40% showed ODF1, ODF2, LEMD1 and SPATA19 specific bands, respectively, but none of the BPH samples expressed any of these genes.
Title: Expression of two testis-specific genes, SPATA19 and LEMD1, in prostate cancer.
The SPATA19 and TEX101 genes may be possible targets for cancer immunotherapy and novel markers for early detection of basal cell carcinoma.
Title: Elevated expression levels of testis-specific genes TEX101 and SPATA19 in basal cell carcinoma and their correlation with clinical and pathological features.

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in sperm mitochondrion organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in mitochondrial outer membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in sperm flagellum	ISS Inferred from Sequence or Structural Similarity more info
is_active_in sperm midpiece	IBA Inferred from Biological aspect of Ancestor more info
located_in sperm midpiece	ISS Inferred from Sequence or Structural Similarity more info

General protein information

Go to the top of the page Help

Preferred Names: spermatogenesis-associated protein 19, mitochondrial

Names: cancer/testis antigen 132; spergen-1; spermatogenic cell-specific gene 1 protein; spermatogenic specific-gene1; testis secretory sperm-binding protein Li 243mP

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001291992.2 → NP_001278921.1 spermatogenesis-associated protein 19, mitochondrial precursor

See identical proteins and their annotated locations for NP_001278921.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AK098717, AP001979, BX096445

Consensus CDS

CCDS8493.1

UniProtKB/Swiss-Prot

Q7Z5L4, Q8N7A9

UniProtKB/TrEMBL

A0A140VKB6

Related

ENSP00000435248.1, ENST00000532889.1

Conserved Domains (1) summary

pfam15212
Location:25 → 167

SPATA19; Spermatogenesis-associated protein 19, mitochondrial
NM_174927.3 → NP_777587.1 spermatogenesis-associated protein 19, mitochondrial precursor

See identical proteins and their annotated locations for NP_777587.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AP001979, BC058039, BX096445

Consensus CDS

CCDS8493.1

UniProtKB/Swiss-Prot

Q7Z5L4, Q8N7A9

UniProtKB/TrEMBL

A0A140VKB6

Related

ENSP00000299140.3, ENST00000299140.8

Conserved Domains (1) summary

pfam15212
Location:25 → 167

SPATA19; Spermatogenesis-associated protein 19, mitochondrial