SPATA31E1

Summary

SPATA31E1 (SPATA31 subfamily E member 1, HGNC:26672) is a protein-coding gene on chromosome 9q22.1, encoding Spermatogenesis-associated protein 31E1 (Q6ZUB1). May play a role in spermatogenesis.

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

Source: NCBI Gene 286234 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 3 total
• MANE Select transcript: NM_178828

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26672
Approved symbol	SPATA31E1
Name	SPATA31 subfamily E member 1
Location	9q22.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ35866
Ensembl gene	ENSG00000177992
Ensembl biotype	protein_coding
Entrez	286234

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000325643

RefSeq mRNA: 1 — MANE Select: NM_178828 NM_178828

CCDS: CCDS6676

Canonical transcript exons

ENST00000325643 — 4 exons

Exon	Start	End
ENSE00001267783	87884913	87888903
ENSE00001364781	87884591	87884651
ENSE00001366711	87882877	87883200
ENSE00001374420	87883992	87884046

Expression profiles

Bgee: expression breadth tissue_specific, 8 present calls, max score 68.36.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0162 / max 14.4347, expressed in 3 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
97247	0.0111	3
97246	0.0051	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cerebellar vermis	UBERON:0004720	68.36	gold quality
left testis	UBERON:0004533	66.57	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	66.54	gold quality
right testis	UBERON:0004534	65.60	gold quality
testis	UBERON:0000473	65.13	gold quality
body of tongue	UBERON:0011876	62.94	gold quality
myocardium	UBERON:0002349	62.47	gold quality
quadriceps femoris	UBERON:0001377	61.60	gold quality
deltoid	UBERON:0001476	60.77	gold quality
pharyngeal mucosa	UBERON:0000355	60.74	gold quality
vastus lateralis	UBERON:0001379	59.92	gold quality
parotid gland	UBERON:0001831	59.70	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	59.59	gold quality
tongue	UBERON:0001723	59.40	gold quality
biceps brachii	UBERON:0001507	59.06	gold quality
vena cava	UBERON:0004087	58.19	gold quality
synovial joint	UBERON:0002217	57.07	gold quality
sperm	CL:0000019	56.32	gold quality
superior surface of tongue	UBERON:0007371	55.71	gold quality
thymus	UBERON:0002370	55.51	gold quality
buccal mucosa cell	CL:0002336	55.39	gold quality
oral cavity	UBERON:0000167	55.35	gold quality
trabecular bone tissue	UBERON:0002483	55.07	gold quality
ventral tegmental area	UBERON:0002691	54.34	gold quality
decidua	UBERON:0002450	53.85	gold quality
trachea	UBERON:0003126	53.70	gold quality
penis	UBERON:0000989	53.69	gold quality
trigeminal ganglion	UBERON:0001675	53.61	gold quality
cartilage tissue	UBERON:0002418	53.49	gold quality
inferior vagus X ganglion	UBERON:0005363	53.48	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.14

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Spata31	ENSMUSG00000056223
rattus_norvegicus	Spata31	ENSRNOG00000018202

Paralogs (13): SPATA31C2 (ENSG00000177910), SPATA31A6 (ENSG00000185775), SPATA31D3 (ENSG00000186788), SPATA31F3 (ENSG00000187791), SPATA31D4 (ENSG00000189357), SPATA31A1 (ENSG00000204849), SPATA31F1 (ENSG00000205108), SPATA31D1 (ENSG00000214929), SPATA31C1 (ENSG00000230246), (ENSG00000251545), SPATA31A3 (ENSG00000275969), SPATA31A7 (ENSG00000276040), SPATA31A5 (ENSG00000276581)

Protein

Protein identifiers

Spermatogenesis-associated protein 31E1 — Q6ZUB1 (reviewed: Q6ZUB1)

Alternative names: Protein FAM75E1

All UniProt accessions (1): Q6ZUB1

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_849150* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027970	SPATA31-like	Domain
IPR039509	SPATA31	Domain

Pfam: PF14650, PF15371

UniProt features (38 total): sequence variant 13, region of interest 10, compositionally biased region 6, glycosylation site 4, sequence conflict 3, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZUB1-F1	39.01	0.00

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (4): 408, 819, 906, 1160

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 12 (showing top): GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, GOBP_MALE_GAMETE_GENERATION, chr9q22, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, FIGUEROA_AML_METHYLATION_CLUSTER_3_DN, GSE11864_UNTREATED_VS_CSF1_PAM3CYS_IN_MAC_DN, GSE17974_IL4_AND_ANTI_IL12_VS_UNTREATED_1H_ACT_CD4_TCELL_UP, GOBP_SEXUAL_REPRODUCTION, GOBP_REPRODUCTIVE_PROCESS, GOBP_MULTICELLULAR_ORGANISMAL_REPRODUCTIVE_PROCESS, GSE29614_CTRL_VS_TIV_FLU_VACCINE_PBMC_2007_DN, GSE29614_CTRL_VS_DAY3_TIV_FLU_VACCINE_PBMC_DN

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

142 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SPATA31E1	CYLC2	Q14093	507
SPATA31E1	TCP11	Q8WWU5	507
SPATA31E1	ZNF555	Q8NEP9	505
SPATA31E1	SPMIP9	Q96LM6	475
SPATA31E1	SPATC1	Q76KD6	447
SPATA31E1	SPATA24	Q86W54	447
SPATA31E1	ZNF433	Q8N7K0	447
SPATA31E1	MOSPD1	Q9UJG1	445
SPATA31E1	SPATA3	Q8NHX4	433
SPATA31E1	CBY2	Q8NA61	418
SPATA31E1	LHFPL2	Q6ZUX7	391
SPATA31E1	ATP10D	Q9P241	366
SPATA31E1	SPATA16	Q9BXB7	357
SPATA31E1	FBXO43	Q4G163	350
SPATA31E1	TEX14	Q8IWB6	348

IntAct

8 interactions, top by confidence:

A	B	Type	Score
EPS15	SPATA31E1	psi-mi:“MI:0407”(direct interaction)	0.440
AP2B1	SPATA31E1	psi-mi:“MI:0407”(direct interaction)	0.440
SPATA31E1	Dlg4	psi-mi:“MI:0407”(direct interaction)	0.440
SPATA31E1	RPL14	psi-mi:“MI:0915”(physical association)	0.400
SPATA31E1	HNRNPD	psi-mi:“MI:0915”(physical association)	0.400
Mecom	ESYT2	psi-mi:“MI:0914”(association)	0.350
MYC	PDZD2	psi-mi:“MI:0914”(association)	0.350

BioGRID (7): SPATA31E1 (Proximity Label-MS), SPATA31E1 (Proximity Label-MS), SPATA31E1 (Protein-peptide), SPATA31E1 (Cross-Linking-MS (XL-MS)), SPATA31E1 (Cross-Linking-MS (XL-MS)), SPATA31E1 (Cross-Linking-MS (XL-MS)), SPATA31E1 (Cross-Linking-MS (XL-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: A6NFR6, Q6ZUB1, Q8NA96, B4DYI2, B6VQA5, E9QAF0, P0C874, P0DKV0, Q5TZJ5, Q5VU36, Q5VVP1, Q5VYP0, Q6ZQQ2, Q6ZUB0, Q8IWB4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	1
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

513 predictions. Top by Δscore:

Variant	Effect	Δscore
9:87884648:AAAGG:A	donor_loss	1.0000
9:87884649:AAGGT:A	donor_loss	1.0000
9:87884650:AGGT:A	donor_loss	1.0000
9:87884653:T:G	donor_loss	1.0000
9:87883196:GGGAG:G	donor_gain	0.9900
9:87883197:GGAGG:G	donor_gain	0.9900
9:87883198:G:T	donor_gain	0.9900
9:87884589:A:AG	acceptor_gain	0.9900
9:87884590:G:GG	acceptor_gain	0.9900
9:87884590:G:GT	acceptor_loss	0.9900
9:87884590:GC:G	acceptor_gain	0.9900
9:87884590:GCTT:G	acceptor_gain	0.9900
9:87884647:GAAAG:G	donor_gain	0.9900
9:87884652:G:GG	donor_gain	0.9900
9:87883198:GAGGT:G	donor_loss	0.9800
9:87883201:G:T	donor_loss	0.9800
9:87884581:T:TA	acceptor_gain	0.9800
9:87884650:AG:A	donor_gain	0.9800
9:87884651:GG:G	donor_gain	0.9800
9:87883202:T:A	donor_loss	0.9700
9:87884590:GCT:G	acceptor_gain	0.9700
9:87884648:A:T	donor_gain	0.9700
9:87884911:A:AG	acceptor_gain	0.9700
9:87884912:G:GG	acceptor_gain	0.9700
9:87883197:GGAG:G	donor_gain	0.9600
9:87883198:GAGG:G	donor_gain	0.9600
9:87883988:TCAGC:T	acceptor_gain	0.9600
9:87883989:CAGCC:C	acceptor_gain	0.9600
9:87884589:AGCTT:A	acceptor_gain	0.9600
9:87884590:GCTTG:G	acceptor_gain	0.9600

AlphaMissense

9406 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:87886963:T:C	F826L	0.915
9:87886965:C:A	F826L	0.915
9:87886965:C:G	F826L	0.915
9:87887011:T:C	F842L	0.871
9:87887013:C:A	F842L	0.871
9:87887013:C:G	F842L	0.871
9:87886829:T:C	I781T	0.868
9:87885553:T:C	F356L	0.863
9:87885555:C:A	F356L	0.863
9:87885555:C:G	F356L	0.863
9:87883105:A:C	S72R	0.860
9:87883107:T:A	S72R	0.860
9:87883107:T:G	S72R	0.860
9:87886814:T:C	I776T	0.849
9:87886591:T:C	F702L	0.844
9:87886593:C:A	F702L	0.844
9:87886593:C:G	F702L	0.844
9:87886803:G:C	K772N	0.839
9:87886803:G:T	K772N	0.839
9:87885805:T:C	F440L	0.835
9:87885807:C:A	F440L	0.835
9:87885807:C:G	F440L	0.835
9:87886465:T:C	F660L	0.834
9:87886467:C:A	F660L	0.834
9:87886467:C:G	F660L	0.834
9:87883114:G:C	G75R	0.821
9:87885703:T:C	F406L	0.815
9:87885705:C:A	F406L	0.815
9:87885705:C:G	F406L	0.815
9:87883017:G:A	M42I	0.786

dbSNP variants (sampled 300 via entrez): RS1000045342 (9:87883226 C>A), RS1000376330 (9:87889058 T>C), RS1000652157 (9:87881868 A>G), RS1001115447 (9:87881094 G>A), RS1001482111 (9:87884769 G>A), RS1002916559 (9:87887325 A>C,G), RS1003124072 (9:87883236 T>C,G), RS1003204082 (9:87883287 C>T), RS1003280358 (9:87882206 T>C,G), RS1003417766 (9:87883061 T>C), RS1003879043 (9:87883885 C>A,G,T), RS1004226628 (9:87883472 G>A,C), RS1004772517 (9:87883508 G>A), RS1005469636 (9:87881571 C>T), RS1006224399 (9:87882787 C>A,G,T)

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

1 associations (top):

Study	Trait	p-value
GCST008157_60	Body fat mass	4.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
FR900359	decreases phosphorylation	1
propionaldehyde	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
Resveratrol	affects cotreatment, decreases expression	1
Lipopolysaccharides	affects response to substance, increases expression, affects cotreatment	1
Plant Extracts	affects cotreatment, decreases expression	1
Valproic Acid	increases methylation	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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