SPATA31A5

Summary

SPATA31A5 (SPATA31 subfamily A member 5, HGNC:32005) is a protein-coding gene on chromosome 9q12, encoding Spermatogenesis-associated protein 31A5 (Q5VU36). May play a role in spermatogenesis.

Predicted to be involved in cell differentiation and spermatogenesis. Predicted to be located in membrane.

Source: NCBI Gene 727905 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 63 total
• MANE Select transcript: NM_001113541

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32005
Approved symbol	SPATA31A5
Name	SPATA31 subfamily A member 5
Location	9q12
Locus type	gene with protein product
Status	Approved
Aliases	OTTHUMG00000013204
Ensembl gene	ENSG00000276581
Ensembl biotype	protein_coding
Entrez	727905

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000437823

RefSeq mRNA: 1 — MANE Select: NM_001113541 NM_001113541

CCDS: CCDS47970

Canonical transcript exons

ENST00000437823 — 4 exons

Exon	Start	End
ENSE00001658605	60916765	60920653
ENSE00001785279	60915823	60915880
ENSE00003722508	60916449	60916509
ENSE00003740628	60914407	60914624

Expression profiles

Bgee: expression breadth tissue_specific, 4 present calls, max score 43.46.

Top tissues by expression

125 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	43.46	gold quality
testis	UBERON:0000473	41.83	gold quality
lower esophagus mucosa	UBERON:0035834	37.56	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
right testis	UBERON:0004534	35.70	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
superior frontal gyrus	UBERON:0002661	32.30	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
prefrontal cortex	UBERON:0000451	32.08	gold quality
muscle tissue	UBERON:0002385	32.07	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
primary visual cortex	UBERON:0002436	29.99	gold quality
monocyte	CL:0000576	29.92	gold quality
blood	UBERON:0000178	29.88	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
leukocyte	CL:0000738	29.71	gold quality
liver	UBERON:0002107	29.12	gold quality
endocervix	UBERON:0000458	28.90	gold quality
duodenum	UBERON:0002114	28.14	gold quality
frontal cortex	UBERON:0001870	27.75	gold quality
lymph node	UBERON:0000029	27.57	gold quality
placenta	UBERON:0001987	27.38	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	27.32	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.16

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

23 targeting SPATA31A5, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-6505-5P	99.73	69.25	1595
HSA-MIR-6833-5P	99.50	68.93	1161
HSA-MIR-519A-2-5P	98.78	71.74	1401
HSA-MIR-520B-5P	98.78	71.74	1401
HSA-MIR-4752	98.71	68.04	833
HSA-MIR-4684-5P	98.29	67.99	1650
HSA-MIR-6810-5P	98.29	66.21	975
HSA-MIR-7113-5P	97.88	67.33	1735
HSA-MIR-376C-3P	97.63	68.88	1263
HSA-MIR-3190-3P	97.61	66.95	1406
HSA-MIR-5586-3P	95.51	67.00	805

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Spata31	ENSMUSG00000056223
rattus_norvegicus	Spata31	ENSRNOG00000018202

Paralogs (13): SPATA31C2 (ENSG00000177910), SPATA31E1 (ENSG00000177992), SPATA31A6 (ENSG00000185775), SPATA31D3 (ENSG00000186788), SPATA31F3 (ENSG00000187791), SPATA31D4 (ENSG00000189357), SPATA31A1 (ENSG00000204849), SPATA31F1 (ENSG00000205108), SPATA31D1 (ENSG00000214929), SPATA31C1 (ENSG00000230246), (ENSG00000251545), SPATA31A3 (ENSG00000275969), SPATA31A7 (ENSG00000276040)

Protein

Protein identifiers

Spermatogenesis-associated protein 31A5 — Q5VU36 (reviewed: Q5VU36)

Alternative names: Protein FAM75A5

All UniProt accessions (1): Q5VU36

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in spermatogenesis.

Subcellular location. Membrane.

Similarity. Belongs to the SPATA31 family.

RefSeq proteins (1): NP_001107013* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027970	SPATA31-like	Domain
IPR039509	SPATA31	Domain

Pfam: PF14650, PF15371

UniProt features (16 total): compositionally biased region 7, region of interest 7, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5VU36-F1	39.32	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 14 (showing top): GOBP_MALE_GAMETE_GENERATION, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, MIR548D_3P, MIR548H_3P_MIR548Z, MIR548BB_3P, MIR548AC, MIR519A_2_5P_MIR520B_5P, MIR4684_5P, MIR6833_5P, MIR5586_3P, GOBP_SEXUAL_REPRODUCTION, GOBP_REPRODUCTIVE_PROCESS, GOBP_MULTICELLULAR_ORGANISMAL_REPRODUCTIVE_PROCESS, chr9q12

GO Biological Process (2): spermatogenesis (GO:0007283), cell differentiation (GO:0030154)

GO Molecular Function (0):

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
developmental process involved in reproduction	1
male gamete generation	1
cellular developmental process	1
cellular anatomical structure	1

Protein interactions and networks

STRING

12 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SPATA31A5	PPIAL4D	F5H284	720
SPATA31A5	AMER1	Q5JTC6	321
SPATA31A5	TMEM200B	Q69YZ2	310
SPATA31A5	FRMD6	Q96NE9	159
SPATA31A5	LGR5	O75473	155
SPATA31A5	SPATA31A6	Q5VVP1	0

IntAct

2 interactions, top by confidence:

A	B	Type	Score
KLHL22	TRAV18	psi-mi:“MI:0914”(association)	0.350

BioGRID (1): SPATA31A5 (Affinity Capture-MS)

ESM2 similar proteins: A0A096LP49, A6NGG8, A6NNH2, B1ASB6, B4DYI2, B6VQA5, C0HKD1, C0HKD2, C0HKD3, D2J0Y4, D6RGX4, E9QAF0, P0C874, P0DKV0, Q149B8, Q3KR64, Q4R736, Q4V8B5, Q5TZJ5, Q5VU36, Q5VVP1, Q5VWK0, Q5VYM1, Q5VYP0, Q63HN1, Q658T7, Q68A65, Q6NS69, Q6NXZ1, Q6PAC4, Q6ZQQ2, Q6ZU69, Q6ZUB0, Q6ZUB1, Q7TSA6, Q80X53, Q86Y26, Q8BHP2, Q8BHW6, Q8C0D9

Diamond homologs: B4DYI2, B6VQA5, E9QAF0, P0C874, P0DKV0, Q5TZJ5, Q5VU36, Q5VVP1, Q5VYP0, Q6ZQQ2, Q6ZUB0, Q6ZUB1, Q8IWB4, A6NFR6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

63 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	55
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

747 predictions. Top by Δscore:

Variant	Effect	Δscore
9:60915774:T:G	acceptor_gain	1.0000
9:60915777:T:A	acceptor_gain	1.0000
9:60915767:A:AG	acceptor_gain	0.9900
9:60915769:T:A	acceptor_gain	0.9900
9:60915769:T:TA	acceptor_gain	0.9900
9:60915773:A:AG	acceptor_gain	0.9900
9:60915773:ATCTT:A	acceptor_gain	0.9900
9:60915777:T:TA	acceptor_gain	0.9900
9:60915785:C:CA	acceptor_gain	0.9900
9:60915787:C:CA	acceptor_gain	0.9900
9:60915805:C:G	acceptor_gain	0.9900
9:60916447:A:AG	acceptor_gain	0.9900
9:60916447:AGCT:A	acceptor_gain	0.9900
9:60916448:G:GA	acceptor_gain	0.9900
9:60916448:G:GG	acceptor_gain	0.9900
9:60916448:GCTG:G	acceptor_gain	0.9900
9:60916507:GAG:G	donor_gain	0.9900
9:60914620:GAAAG:G	donor_gain	0.9800
9:60914623:AGGT:A	donor_loss	0.9800
9:60914624:GGTA:G	donor_loss	0.9800
9:60914625:G:GA	donor_loss	0.9800
9:60914626:T:G	donor_loss	0.9800
9:60915767:ATT:A	acceptor_gain	0.9800
9:60915768:T:G	acceptor_gain	0.9800
9:60915801:C:CA	acceptor_gain	0.9800
9:60916448:GCT:G	acceptor_gain	0.9800
9:60916507:GAGGT:G	donor_loss	0.9800
9:60916508:AGGT:A	donor_loss	0.9800
9:60916510:GTGAG:G	donor_loss	0.9800
9:60916511:T:G	donor_loss	0.9800

AlphaMissense

8801 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:60917702:T:C	F416L	0.974
9:60917704:C:A	F416L	0.974
9:60917704:C:G	F416L	0.974
9:60917708:G:C	G418R	0.922
9:60917795:T:C	F447L	0.921
9:60917797:C:A	F447L	0.921
9:60917797:C:G	F447L	0.921
9:60918893:T:A	W813R	0.921
9:60918893:T:C	W813R	0.921
9:60918895:G:C	W813C	0.904
9:60918895:G:T	W813C	0.904
9:60917705:T:A	W417R	0.903
9:60917705:T:C	W417R	0.903
9:60918827:T:C	F791L	0.899
9:60918829:C:A	F791L	0.899
9:60918829:C:G	F791L	0.899
9:60919493:T:C	F1013L	0.844
9:60919495:T:A	F1013L	0.844
9:60919495:T:G	F1013L	0.844
9:60917703:T:C	F416S	0.835
9:60917725:C:A	H423Q	0.835
9:60917725:C:G	H423Q	0.835
9:60917707:G:C	W417C	0.824
9:60917707:G:T	W417C	0.824
9:60918161:T:C	F569L	0.822
9:60918163:T:A	F569L	0.822
9:60918163:T:G	F569L	0.822
9:60917726:A:C	S424R	0.821
9:60917728:C:A	S424R	0.821
9:60917728:C:G	S424R	0.821

dbSNP variants (sampled 300 via entrez): RS1001769542 (9:60914118 A>C), RS1039609620 (9:60915342 GGAGT>G), RS1047180411 (9:60916368 C>T), RS1156550515 (9:60914882 T>A), RS1157212914 (9:60917502 C>A), RS1157473292 (9:60913777 A>G), RS1157902682 (9:60915811 C>A,T), RS1158253371 (9:60916607 G>A), RS1158734533 (9:60915752 C>A,T), RS1158832348 (9:60916921 G>A), RS1159056764 (9:60913687 A>T), RS1160480500 (9:60914358 C>T), RS1160539038 (9:60915369 T>G), RS1160913799 (9:60915071 G>A,C), RS1161833993 (9:60915187 CTGTGTGTGTGTGTGTGTGTG>C,CTG,CTGTG,CTGTGTG,CTGTGTGTG,CTGTGTGTGTG,CTGTGTGTGTGTG,CTGTGTGTGTGTGTG,CTGTGTGTGTGTGTGTG,CTGTGTGTGTGTGTGTGTG,CTGTGTGTGTGTGTGTGTGTGTG,CTGTGTGTGTGTGTGTGTGTGTGTG,CTGTGTGTGTGTGTGTGTGTGTGTGTG,CTGTGTGTGTGTGTGTGTGTGTGTGTGTG,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cadmium	increases abundance, increases expression	1
Cadmium Chloride	increases abundance, increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.