MOSPD1

Summary

MOSPD1 (motile sperm domain containing 1, HGNC:25235) is a protein-coding gene on chromosome Xq26.3, encoding Motile sperm domain-containing protein 1 (Q9UJG1). Plays a role in differentiation and/or proliferation of mesenchymal stem cells.

Predicted to be involved in negative regulation of transcription by RNA polymerase II and positive regulation of transcription by RNA polymerase II. Predicted to be located in nucleus and perinuclear region of cytoplasm. Predicted to be active in cytoplasm.

Source: NCBI Gene 56180 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 79 total — 1 pathogenic
• MANE Select transcript: NM_019556

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25235
Approved symbol	MOSPD1
Name	motile sperm domain containing 1
Location	Xq26.3
Locus type	gene with protein product
Status	Approved
Aliases	dJ473B4
Ensembl gene	ENSG00000101928
Ensembl biotype	protein_coding
OMIM	300674
Entrez	56180

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 10 protein_coding, 4 protein_coding_CDS_not_defined

ENST00000370777, ENST00000370779, ENST00000370783, ENST00000462060, ENST00000480721, ENST00000489890, ENST00000491609, ENST00000863473, ENST00000863474, ENST00000863475, ENST00000912667, ENST00000912668, ENST00000912669, ENST00000960308

RefSeq mRNA: 2 — MANE Select: NM_019556 NM_001306188, NM_019556

CCDS: CCDS14645, CCDS78507

Canonical transcript exons

ENST00000370783 — 6 exons

Exon	Start	End
ENSE00001378171	134915182	134915257
ENSE00001914023	134887632	134889192
ENSE00003479115	134891479	134891640
ENSE00003551933	134899280	134899534
ENSE00003578026	134896817	134897034
ENSE00003615218	134899090	134899165

Expression profiles

Bgee: expression breadth ubiquitous, 277 present calls, max score 95.41.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.4938 / max 553.9949, expressed in 1771 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
200603	11.4918	1730
200602	5.3531	1601
200604	2.2359	918
200605	0.4131	190

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
choroid plexus epithelium	UBERON:0003911	95.41	gold quality
adrenal tissue	UBERON:0018303	92.62	gold quality
stromal cell of endometrium	CL:0002255	92.02	gold quality
buccal mucosa cell	CL:0002336	91.65	gold quality
right uterine tube	UBERON:0001302	90.33	gold quality
lower esophagus mucosa	UBERON:0035834	89.79	gold quality
secondary oocyte	CL:0000655	89.49	gold quality
esophagus squamous epithelium	UBERON:0006920	89.38	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.58	gold quality
epithelium of esophagus	UBERON:0001976	87.41	gold quality
heart right ventricle	UBERON:0002080	87.33	gold quality
decidua	UBERON:0002450	87.27	gold quality
pigmented layer of retina	UBERON:0001782	87.07	gold quality
caput epididymis	UBERON:0004358	86.74	gold quality
oral cavity	UBERON:0000167	86.24	gold quality
bone marrow	UBERON:0002371	85.96	gold quality
hair follicle	UBERON:0002073	85.60	gold quality
upper leg skin	UBERON:0004262	85.52	gold quality
left adrenal gland	UBERON:0001234	85.47	gold quality
left adrenal gland cortex	UBERON:0035825	85.38	gold quality
heart left ventricle	UBERON:0002084	84.97	gold quality
adrenal gland	UBERON:0002369	84.96	gold quality
cardiac ventricle	UBERON:0002082	84.82	gold quality
right adrenal gland cortex	UBERON:0035827	84.61	gold quality
esophagus mucosa	UBERON:0002469	84.59	gold quality
cortical plate	UBERON:0005343	84.46	gold quality
trabecular bone tissue	UBERON:0002483	84.44	gold quality
adrenal cortex	UBERON:0001235	84.40	gold quality
biceps brachii	UBERON:0001507	84.31	gold quality
squamous epithelium	UBERON:0006914	84.28	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-3929	yes	351.90
E-MTAB-10042	yes	24.58
E-ANND-3	yes	3.34

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

153 targeting MOSPD1, 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-3163	100.00	77.23	8605
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4262	100.00	73.26	3931
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-548AJ-3P	99.96	73.38	5345

Literature-anchored findings (GeneRIF, showing 4)

• Our in vitro studies were supported by RNA-sequencing data that confirmed expression of Mospd1 mRNA in cultured, proliferating perivascular pre-MSCs isolated from human tissue (PMID:26175344)
• Results from a study on gene expression variability markers in early-stage human embryos shows that MOSPD1 is a putative marker for the 3-day, 8-cell embryo stage. (PMID:26288249)
• MOSPD1 is a possible candidate gene for DORV, probably in combination with GPC3. Further studies of the combined functions of MOSPD1 and GPC3 are needed, and identification of additional patients with MOSPD1 and GPC3 duplication should be pursued (PMID:28636109)
• Human VAPome Analysis Reveals MOSPD1 and MOSPD3 as Membrane Contact Site Proteins Interacting with FFAT-Related FFNT Motifs. (PMID:33296653)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	mospd1	ENSDARG00000028614
mus_musculus	Mospd1	ENSMUSG00000023074
rattus_norvegicus	Mospd1l1	ENSRNOG00000058316
rattus_norvegicus	Mospd1	ENSRNOG00000066239
caenorhabditis_elegans		WBGENE00016406

Protein

Protein identifiers

Motile sperm domain-containing protein 1 — Q9UJG1 (reviewed: Q9UJG1)

All UniProt accessions (1): Q9UJG1

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in differentiation and/or proliferation of mesenchymal stem cells. Proposed to be involved in epithelial-to-mesenchymal transition (EMT). However, another study suggests that it is not required for EMT or stem cell self-renewal and acts during later stages of differentiation.

Subcellular location. Endoplasmic reticulum membrane. Golgi apparatus membrane.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9UJG1-1	1	yes
Q9UJG1-2	2
Q9UJG1-3	3

RefSeq proteins (2): NP_001293117, NP_062456* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000535	MSP_dom	Domain
IPR008962	PapD-like_sf	Homologous_superfamily
IPR013783	Ig-like_fold	Homologous_superfamily
IPR039283	MOSPD1/3	Family

Pfam: PF00635

UniProt features (8 total): transmembrane region 2, splice variant 2, chain 1, domain 1, short sequence motif 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UJG1-F1	78.10	0.46

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 139 (showing top): RRAGTTGT_UNKNOWN, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GCANCTGNY_MYOD_Q6, BOYAULT_LIVER_CANCER_SUBCLASS_G2, IVANOVA_HEMATOPOIESIS_MATURE_CELL, AATGGAG_MIR136, CAGCTG_AP4_Q5, PATIL_LIVER_CANCER, CTAGGAA_MIR384, CATRRAGC_UNKNOWN, MYOD_01, HEN1_01, ATTCTTT_MIR186, TGACATY_UNKNOWN, RYTTCCTG_ETS2_B

GO Biological Process (3): negative regulation of transcription by RNA polymerase II (GO:0000122), cell differentiation (GO:0030154), positive regulation of transcription by RNA polymerase II (GO:0045944)

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

GO Cellular Component (8): Golgi membrane (GO:0000139), nucleus (GO:0005634), cytoplasm (GO:0005737), endoplasmic reticulum membrane (GO:0005789), perinuclear region of cytoplasm (GO:0048471), endoplasmic reticulum (GO:0005783), Golgi apparatus (GO:0005794), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membrane-bounded organelle	3
cellular anatomical structure	3
cytoplasm	3
regulation of transcription by RNA polymerase II	2
transcription by RNA polymerase II	2
endomembrane system	2
negative regulation of DNA-templated transcription	1
cellular developmental process	1
positive regulation of DNA-templated transcription	1
binding	1
Golgi apparatus	1
bounding membrane of organelle	1
intracellular anatomical structure	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1

Protein interactions and networks

STRING

878 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MOSPD1	MOSPD2	Q8NHP6	703
MOSPD1	VAPA	Q9P0L0	492
MOSPD1	RTL8A	Q9BWD3	485
MOSPD1	VAPB	O95292	471
MOSPD1	SPATA31E1	Q6ZUB1	445
MOSPD1	CCDC117	Q8IWD4	438
MOSPD1	ANTXRL	A6NF34	438
MOSPD1	FBXO36	Q8NEA4	434
MOSPD1	NKX3-2	P78367	422
MOSPD1	SPATS1	Q496A3	420
MOSPD1	CFAP65	Q6ZU64	400
MOSPD1	EBPL	Q9BY08	396
MOSPD1	PIH1D2	Q8WWB5	392
MOSPD1	DNAJC25	Q9H1X3	383
MOSPD1	HAUS7	Q99871	376

IntAct

6 interactions, top by confidence:

A	B	Type	Score
FAM241B	MOSPD1	psi-mi:“MI:0915”(physical association)	0.560
TMED10	PGRMC1	psi-mi:“MI:0914”(association)	0.350
EDAR	UPK3BL1	psi-mi:“MI:0914”(association)	0.350
FAM241B	MOSPD1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (6): MOSPD1 (Affinity Capture-MS), C10orf35 (Two-hybrid), MOSPD1 (Affinity Capture-MS), MOSPD1 (Affinity Capture-MS), MOSPD1 (Affinity Capture-MS), MOSPD1 (Affinity Capture-RNA)

ESM2 similar proteins: A0A4X1TB62, A4FUD6, A4IHF8, A5D8N2, A7MB16, E9PZQ0, F1LMY4, P11716, P13984, P16960, P21817, P42694, P54198, P55884, Q01750, Q24K21, Q28C34, Q2T9L9, Q2T9W7, Q3UX43, Q4G061, Q5R7U7, Q5RB75, Q5RCC1, Q5RCC7, Q61666, Q6AYM4, Q6DFV5, Q6NRD0, Q6NYU2, Q6P1I3, Q7ZUV0, Q7ZYD9, Q8BHL5, Q8BPA8, Q8CBY8, Q8IVD9, Q8JZQ9, Q8N6S4, Q8R1N4

Diamond homologs: O75425, Q2T9W7, Q3T033, Q5RCC7, Q5RJS6, Q8BGG6, Q8VEL0, Q9UJG1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	15
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
148019	GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1	Pathogenic

SpliceAI

1079 predictions. Top by Δscore:

Variant	Effect	Δscore
X:134896849:T:A	donor_gain	1.0000
X:134896861:T:TA	donor_gain	1.0000
X:134896876:T:TA	donor_gain	1.0000
X:134896885:T:TA	donor_gain	1.0000
X:134896949:T:TA	donor_gain	1.0000
X:134897033:CA:C	acceptor_gain	1.0000
X:134897035:C:CC	acceptor_gain	1.0000
X:134899056:TAAA:T	donor_gain	1.0000
X:134899057:AAAA:A	donor_gain	1.0000
X:134899088:A:AC	donor_gain	1.0000
X:134899089:C:CC	donor_gain	1.0000
X:134899161:CAAAA:C	acceptor_gain	1.0000
X:134899166:C:CC	acceptor_gain	1.0000
X:134899275:CTCA:C	donor_loss	1.0000
X:134899276:TCA:T	donor_loss	1.0000
X:134899277:CA:C	donor_loss	1.0000
X:134899278:ACCT:A	donor_loss	1.0000
X:134899279:C:CT	donor_loss	1.0000
X:134915176:TCTCA:T	donor_loss	1.0000
X:134915177:CTCA:C	donor_loss	1.0000
X:134915178:TCAC:T	donor_loss	1.0000
X:134915179:CACC:C	donor_loss	1.0000
X:134915181:C:G	donor_loss	1.0000
X:134889192:CCTGA:C	acceptor_loss	0.9900
X:134889193:CTGAA:C	acceptor_loss	0.9900
X:134889194:T:G	acceptor_loss	0.9900
X:134891518:A:C	donor_gain	0.9900
X:134897030:TCACA:T	acceptor_gain	0.9900
X:134897031:CACA:C	acceptor_gain	0.9900
X:134897031:CACAC:C	acceptor_gain	0.9900

AlphaMissense

1368 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:134891479:C:G	G204R	1.000
X:134891490:G:T	A200D	1.000
X:134891584:A:G	C169R	1.000
X:134896981:A:G	F95S	1.000
X:134899308:A:C	N42K	1.000
X:134899308:A:T	N42K	1.000
X:134899313:A:C	Y41D	1.000
X:134899384:A:T	V17D	1.000
X:134889183:G:T	T207K	0.999
X:134889189:A:G	L205P	0.999
X:134889192:C:T	G204D	0.999
X:134891488:A:C	Y201D	0.999
X:134891491:C:G	A200P	0.999
X:134891493:G:T	A199D	0.999
X:134891501:T:A	K196N	0.999
X:134891501:T:G	K196N	0.999
X:134891571:A:G	L173P	0.999
X:134896915:A:G	L117P	0.999
X:134896921:G:T	A115D	0.999
X:134896939:C:T	G109E	0.999
X:134896940:C:G	G109R	0.999
X:134896940:C:T	G109R	0.999
X:134896969:A:T	V99D	0.999
X:134896975:A:G	L97P	0.999
X:134896978:C:G	R96P	0.999
X:134897024:G:C	H81D	0.999
X:134897026:C:G	R80P	0.999
X:134897029:A:T	I79N	0.999
X:134899094:C:G	D76H	0.999
X:134899114:A:T	V69E	0.999

dbSNP variants (sampled 300 via entrez): RS1000075080 (X:134894809 C>A), RS1000119311 (X:134913935 T>G), RS1000263652 (X:134907462 C>G), RS1000272391 (X:134890229 G>A), RS1000314698 (X:134906980 G>A,C), RS1000444094 (X:134900727 C>G), RS1000446096 (X:134893314 A>G), RS1000565057 (X:134899990 T>C), RS1000742576 (X:134909140 G>A), RS1000746716 (X:134889823 C>A), RS1000987592 (X:134909497 C>T), RS1001176566 (X:134896824 A>G), RS1001583624 (X:134888794 G>A), RS1001773705 (X:134906053 C>A,T), RS1001780800 (X:134909047 C>G)

Disease associations

OMIM: gene MIM:300674 | 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

47 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases expression	5
Aflatoxin B1	affects expression, increases expression	4
sodium arsenite	decreases expression, increases expression	3
bisphenol A	affects expression, increases methylation	2
Acetaminophen	increases expression	2
Air Pollutants	increases expression, decreases expression, increases abundance	2
Phenylmercuric Acetate	increases expression, affects cotreatment	2
Cyclosporine	increases expression	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
aristolochic acid I	increases expression	1
arsenite	affects binding, increases reaction	1
cobaltous chloride	increases expression	1
butyraldehyde	increases expression	1
manganese chloride	increases abundance, increases expression	1
periodate-oxidized adenosine	affects expression	1
1-nitropyrene	increases expression	1
cylindrospermopsin	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
ICG 001	decreases expression	1
abrine	increases expression	1
dorsomorphin	increases expression, affects cotreatment	1
bisphenol S	affects cotreatment, increases expression	1
jinfukang	decreases expression	1
Sunitinib	increases expression	1
Atrazine	increases expression	1
Coumestrol	decreases expression	1
Demecolcine	increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Diethylstilbestrol	decreases expression	1
Ethyl Methanesulfonate	increases expression	1

Clinical trials (associated diseases)

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