SPATA31C1

Summary

SPATA31C1 (SPATA31 subfamily C member 1, HGNC:27846) is a protein-coding gene on chromosome 9q22.1, encoding Spermatogenesis-associated protein 31C1 (P0DKV0). May play a role in spermatogenesis.

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

Source: NCBI Gene 441452 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 2 total
• MANE Select transcript: NM_001145124

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27846
Approved symbol	SPATA31C1
Name	SPATA31 subfamily C member 1
Location	9q22.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ36055
Ensembl gene	ENSG00000230246
Ensembl biotype	protein_coding
Entrez	441452

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding_CDS_not_defined, 1 protein_coding

ENST00000706933, ENST00000706934, ENST00000706936, ENST00000706937

RefSeq mRNA: 1 — MANE Select: NM_001145124 NM_001145124

Canonical transcript exons

ENST00000706933 — 4 exons

Exon	Start	End
ENSE00003410245	87917962	87918179
ENSE00003997523	87919916	87919976
ENSE00003997525	87920252	87923657
ENSE00003997528	87919255	87919348

Expression profiles

Bgee: expression breadth broad, 28 present calls, max score 80.59.

Top tissues by expression

109 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	80.59	gold quality
right testis	UBERON:0004534	80.32	gold quality
left testis	UBERON:0004533	80.18	gold quality
testis	UBERON:0000473	79.62	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	70.01	gold quality
stromal cell of endometrium	CL:0002255	52.41	silver quality
bone marrow cell	CL:0002092	52.28	gold quality
prefrontal cortex	UBERON:0000451	51.43	gold quality
superior frontal gyrus	UBERON:0002661	50.59	gold quality
bone marrow	UBERON:0002371	49.86	gold quality
frontal cortex	UBERON:0001870	47.96	gold quality
cerebral cortex	UBERON:0000956	44.17	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	43.95	silver quality
Brodmann (1909) area 9	UBERON:0013540	43.50	silver quality
right frontal lobe	UBERON:0002810	42.83	gold quality
Ammon’s horn	UBERON:0001954	41.02	gold quality
duodenum	UBERON:0002114	41.01	gold quality
cortical plate	UBERON:0005343	40.13	gold quality
mucosa of transverse colon	UBERON:0004991	39.97	silver quality
primary visual cortex	UBERON:0002436	39.61	gold quality
anterior cingulate cortex	UBERON:0009835	38.12	silver quality
colonic epithelium	UBERON:0000397	37.20	gold quality
endometrium	UBERON:0001295	36.99	silver quality
brain	UBERON:0000955	36.71	gold quality
skeletal muscle tissue	UBERON:0001134	36.56	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
small intestine	UBERON:0002108	35.78	silver quality
granulocyte	CL:0000094	35.12	gold quality
monocyte	CL:0000576	34.77	gold quality
small intestine Peyer’s patch	UBERON:0003454	34.77	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.13

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

30 targeting SPATA31C1, 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-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-5003-3P	99.85	69.29	2517
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-4319	99.76	69.83	2586
HSA-MIR-6505-5P	99.73	69.25	1595
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-6833-5P	99.50	68.93	1161
HSA-MIR-670-3P	99.03	68.88	2404
HSA-MIR-3164	99.02	68.39	1071
HSA-MIR-6820-3P	99.02	68.50	1035
HSA-MIR-4752	98.71	68.04	833
HSA-MIR-758-3P	98.42	68.60	1122
HSA-MIR-548AT-3P	98.37	64.98	580
HSA-MIR-548AY-3P	98.37	65.14	562
HSA-MIR-376C-3P	97.63	68.88	1263
HSA-MIR-134-5P	97.11	66.52	976
HSA-MIR-3118	97.11	66.58	984
HSA-MIR-3059-3P	96.71	67.08	606
HSA-MIR-5586-3P	95.51	67.00	805
HSA-MIR-1238-3P	95.27	62.25	552
HSA-MIR-4513	95.04	67.06	727
HSA-MIR-6855-3P	95.04	66.57	725
HSA-MIR-4520-5P	93.54	65.23	140
HSA-MIR-1537-3P	90.51	63.57	105

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), (ENSG00000251545), SPATA31A3 (ENSG00000275969), SPATA31A7 (ENSG00000276040), SPATA31A5 (ENSG00000276581)

Protein

Protein identifiers

Spermatogenesis-associated protein 31C1 — P0DKV0 (reviewed: P0DKV0)

Alternative names: Protein FAM75C1

All UniProt accessions (1): P0DKV0

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in spermatogenesis.

Subcellular location. Membrane.

Similarity. Belongs to the SPATA31 family.

Isoforms (2)

UniProt ID	Names	Canonical?
P0DKV0-1	1	yes
P0DKV0-2	2

RefSeq proteins (1): NP_001138596* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027970	SPATA31-like	Domain
IPR039509	SPATA31	Domain

Pfam: PF14650, PF15371

UniProt features (22 total): compositionally biased region 10, region of interest 8, splice variant 2, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0DKV0-F1	40.29	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 12 (showing top): GOBP_MALE_GAMETE_GENERATION, chr9q22, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, MIR3059_5P, MIR345_3P, MIR6833_5P, MIR1537_3P, FOURATI_BLOOD_TWINRIX_AGE_25_83YO_RESPONDERS_VS_POOR_RESPONDERS_0DY_DN, GOBP_SEXUAL_REPRODUCTION, GOBP_REPRODUCTIVE_PROCESS, GOBP_MULTICELLULAR_ORGANISMAL_REPRODUCTIVE_PROCESS

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

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

BioGRID (2): FH (Cross-Linking-MS (XL-MS)), SPATA31C1 (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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1001273959 (9:87915712 CAA>C), RS1001466485 (9:87915950 T>A), RS1003516705 (9:87912617 T>A,C), RS1004017686 (9:87912697 G>T), RS1004979673 (9:87912379 T>A,C,G), RS1005032237 (9:87912502 C>A,T), RS1005367732 (9:87921178 A>C), RS1005369949 (9:87923544 G>A,C), RS1005422088 (9:87923906 C>A,G,T), RS1005962830 (9:87920352 T>G), RS1006043598 (9:87919059 C>G,T), RS1006324820 (9:87920061 G>A,C), RS1006833178 (9:87922835 G>A), RS1007035352 (9:87917424 TAAAAA>T,TAAAA,TAAAAAA), RS1007394174 (9:87916285 A>G)

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

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
S-(1,2-dichlorovinyl)cysteine	increases expression	1
Ivermectin	decreases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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