SPATA31A7

Summary

SPATA31A7 (SPATA31 subfamily A member 7, HGNC:32007) is a protein-coding gene on chromosome 9q12, encoding Spermatogenesis-associated protein 31A7 (Q8IWB4). May play a role in spermatogenesis. It is a selective cancer dependency (DepMap: 18.2% of cell lines).

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

Source: NCBI Gene 26165 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 150 total
• Cancer dependency (DepMap): dependent in 18.2% of screened cell lines
• MANE Select transcript: NM_015667

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32007
Approved symbol	SPATA31A7
Name	SPATA31 subfamily A member 7
Location	9q12
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000276040
Ensembl biotype	protein_coding
OMIM	616584
Entrez	26165

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 8 protein_coding_CDS_not_defined, 1 protein_coding

ENST00000376458, ENST00000611017, ENST00000614013, ENST00000618860, ENST00000619140, ENST00000619167, ENST00000621711, ENST00000622751, ENST00000622899

RefSeq mRNA: 1 — MANE Select: NM_015667 NM_015667

CCDS: CCDS75838

Canonical transcript exons

ENST00000619167 — 4 exons

Exon	Start	End
ENSE00003713001	61192395	61196280
ENSE00003721714	61191453	61191510
ENSE00003754137	61192079	61192139
ENSE00003978169	61190036	61190253

Expression profiles

Bgee: expression breadth broad, 74 present calls, max score 79.19.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.19	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	76.14	gold quality
right testis	UBERON:0004534	70.97	gold quality
testis	UBERON:0000473	70.02	gold quality
left testis	UBERON:0004533	69.74	gold quality
sural nerve	UBERON:0015488	60.39	silver quality
stromal cell of endometrium	CL:0002255	42.75	silver quality
bone marrow cell	CL:0002092	41.81	gold quality
ectocervix	UBERON:0012249	41.48	gold quality
bone marrow	UBERON:0002371	41.03	silver quality
lower esophagus mucosa	UBERON:0035834	40.90	silver quality
monocyte	CL:0000576	39.32	gold quality
leukocyte	CL:0000738	38.80	gold quality
primary visual cortex	UBERON:0002436	38.00	silver quality
ganglionic eminence	UBERON:0004023	37.81	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
superior frontal gyrus	UBERON:0002661	37.13	gold quality
apex of heart	UBERON:0002098	36.92	gold quality
skeletal muscle tissue	UBERON:0001134	36.91	gold quality
uterine cervix	UBERON:0000002	36.50	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	36.25	gold quality
granulocyte	CL:0000094	36.05	gold quality
right uterine tube	UBERON:0001302	34.94	gold quality
mucosa of transverse colon	UBERON:0004991	34.83	gold quality
mucosa of stomach	UBERON:0001199	34.60	gold quality
duodenum	UBERON:0002114	34.55	gold quality
blood	UBERON:0000178	34.19	gold quality
urinary bladder	UBERON:0001255	34.08	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.31

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

23 targeting SPATA31A7, 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

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 18.2% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 2)

• Results suggest that AEP1 is an evolutionary-conserved acrosome-specific gene and likely functions in acrosome-cap formation [AEP1]. (PMID:16924657)
• VAD1.3 interacts with beta-actin and syntaxin 1 in vitro. (PMID:20850414)

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), SPATA31A5 (ENSG00000276581)

Protein

Protein identifiers

Spermatogenesis-associated protein 31A7 — Q8IWB4 (reviewed: Q8IWB4)

Alternative names: Protein FAM75A7

All UniProt accessions (1): Q8IWB4

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_056482* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027970	SPATA31-like	Domain
IPR039509	SPATA31	Domain

Pfam: PF14650, PF15371

UniProt features (26 total): sequence conflict 10, 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-Q8IWB4-F1	39.02	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 24 (showing top): GOZGIT_ESR1_TARGETS_DN, MODULE_511, GOBP_MALE_GAMETE_GENERATION, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, MODULE_163, MIR548D_3P, MIR548H_3P_MIR548Z, MIR548BB_3P, MIR548AC, MIR519A_2_5P_MIR520B_5P, MIR4684_5P, MIR6833_5P, MIR5586_3P

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

GO Molecular Function (1): protein binding (GO:0005515)

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
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

138 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SPATA31A7	SPATA32	Q96LK8	855
SPATA31A7	MT-CO3	P00414	478
SPATA31A7	TBCCD1	Q9NVR7	398
SPATA31A7	LGMN	Q99538	366
SPATA31A7	UQCRFS1	P47985	321
SPATA31A7	GALM	Q96C23	320
SPATA31A7	RESF1	Q9HCM1	313
SPATA31A7	ATP5MC2	Q06055	311
SPATA31A7	PRSS33	Q8NF86	310
SPATA31A7	ZC2HC1B	Q5TFG8	273
SPATA31A7	CNTNAP3	Q9BZ76	272
SPATA31A7	ATP5MC3	P48201	271
SPATA31A7	ATP5MC1	P05496	261
SPATA31A7	APEX2	Q9UBZ4	245
SPATA31A7	ATP23	Q9Y6H3	223
SPATA31A7	ATPAF1	Q5TC12	223

IntAct

8 interactions, top by confidence:

A	B	Type	Score
DEFB103A	SPATA31A7	psi-mi:“MI:0915”(physical association)	0.560
ODAM	SPATA31A7	psi-mi:“MI:0915”(physical association)	0.560
ALB	CNOT1	psi-mi:“MI:0914”(association)	0.350
SPATA31A7	DEFB103A	psi-mi:“MI:0915”(physical association)	0.000
SPATA31A7	ODAM	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (5): SPATA31A7 (Two-hybrid), SPATA31A7 (Two-hybrid), SPATA31A7 (Two-hybrid), SPATA31A7 (Affinity Capture-MS), SPATA31A7 (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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	135
Likely benign	15
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

531 predictions. Top by Δscore:

Variant	Effect	Δscore
9:61192076:C:CC	acceptor_gain	0.9900
9:61190252:C:A	donor_loss	0.9800
9:61190252:CCTTT:C	donor_gain	0.9800
9:61190253:A:AT	donor_loss	0.9800
9:61190254:TAC:T	donor_loss	0.9800
9:61190255:TTA:T	donor_loss	0.9800
9:61190256:CTTAC:C	donor_loss	0.9800
9:61190257:CCTTA:C	donor_loss	0.9800
9:61192079:CAGC:C	acceptor_gain	0.9800
9:61192080:CCAG:C	acceptor_gain	0.9800
9:61192079:CAG:C	acceptor_gain	0.9700
9:61192138:CCT:C	donor_gain	0.9600
9:61190252:C:CC	donor_gain	0.9500
9:61190253:A:AC	donor_gain	0.9500
9:61192138:CCTC:C	donor_loss	0.9500
9:61192139:ACCT:A	donor_loss	0.9500
9:61192140:CA:C	donor_loss	0.9500
9:61192141:TCACC:T	donor_loss	0.9500
9:61192142:CTCA:C	donor_loss	0.9500
9:61192143:CCTCA:C	donor_loss	0.9500
9:61190389:C:CA	donor_gain	0.9400
9:61192928:G:T	acceptor_gain	0.9400
9:61192076:C:CG	acceptor_loss	0.9300
9:61192076:C:A	acceptor_gain	0.9200
9:61192077:GCT:G	acceptor_gain	0.9200
9:61192078:AG:A	acceptor_gain	0.9200
9:61192625:G:C	donor_gain	0.9200
9:61192078:A:T	acceptor_gain	0.9100
9:61192078:AGCTG:A	acceptor_gain	0.9100
9:61192392:C:CC	acceptor_gain	0.9100

AlphaMissense

8804 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:61193332:T:C	F416L	0.964
9:61193334:C:A	F416L	0.964
9:61193334:C:G	F416L	0.964
9:61193335:T:A	W417R	0.915
9:61193335:T:C	W417R	0.915
9:61194523:T:A	W813R	0.906
9:61194523:T:C	W813R	0.906
9:61193425:T:C	F447L	0.902
9:61193427:C:A	F447L	0.902
9:61193427:C:G	F447L	0.902
9:61193338:G:C	G418R	0.884
9:61194457:T:C	F791L	0.884
9:61194459:C:A	F791L	0.884
9:61194459:C:G	F791L	0.884
9:61194525:G:C	W813C	0.870
9:61194525:G:T	W813C	0.870
9:61193337:G:C	W417C	0.853
9:61193337:G:T	W417C	0.853
9:61193791:T:C	F569L	0.836
9:61193793:T:A	F569L	0.836
9:61193793:T:G	F569L	0.836
9:61193356:A:C	S424R	0.816
9:61193358:C:A	S424R	0.816
9:61193358:C:G	S424R	0.816
9:61195123:T:C	F1013L	0.795
9:61195125:T:A	F1013L	0.795
9:61195125:T:G	F1013L	0.795
9:61193333:T:C	F416S	0.788
9:61193860:A:C	S592R	0.767
9:61193862:T:A	S592R	0.767

dbSNP variants (sampled 300 via entrez): RS1001101089 (9:61194070 C>T), RS1002311561 (9:61191144 T>C), RS1002580399 (9:61192178 G>A,T), RS1008986881 (9:61189505 A>C), RS1009124066 (9:61188556 A>G), RS1009424455 (9:61192252 G>A), RS1009666147 (9:61193821 G>C,T), RS1019075123 (9:61189422 A>C), RS1019182685 (9:61188544 G>C), RS1025089941 (9:61193801 C>G), RS1026523057 (9:61190678 G>A), RS1026553865 (9:61191986 C>T), RS1028062223 (9:61188432 T>C), RS1032185845 (9:61194003 A>G), RS1034338540 (9:61193526 A>C)

Disease associations

OMIM: gene MIM:616584 | 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)

Clinical trials (associated diseases)

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