SPMIP10

Summary

SPMIP10 (sperm microtubule inner protein 10, HGNC:33767) is a protein-coding gene on chromosome 5q23.2, encoding Sperm-associated microtubule inner protein 10 (Q6ZNM6). Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in flagellum axoneme, which is required for flagellum beating.

Predicted to be involved in flagellated sperm motility. Predicted to be located in cytoplasm; cytoskeleton; and motile cilium. Predicted to be active in axonemal B tubule inner sheath and sperm flagellum.

Source: NCBI Gene 389320 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 18 total
• MANE Select transcript: NM_207408

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33767
Approved symbol	SPMIP10
Name	sperm microtubule inner protein 10
Location	5q23.2
Locus type	gene with protein product
Status	Approved
Aliases	MGC163367, MGC163369, FLJ27505, Tseg7
Ensembl gene	ENSG00000196900
Ensembl biotype	protein_coding
Entrez	389320

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 retained_intron

ENST00000357147, ENST00000506701

RefSeq mRNA: 1 — MANE Select: NM_207408 NM_207408

CCDS: CCDS4139

Canonical transcript exons

ENST00000357147 — 3 exons

Exon	Start	End
ENSE00001414512	126632546	126632654
ENSE00001416318	126636032	126636284
ENSE00001421171	126631705	126631820

Expression profiles

Bgee: expression breadth ubiquitous, 123 present calls, max score 95.95.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0217 / max 23.0053, expressed in 3 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
58295	0.0217	3

Top tissues by expression

234 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	95.95	gold quality
sperm	CL:0000019	89.09	gold quality
left testis	UBERON:0004533	85.72	gold quality
right testis	UBERON:0004534	84.96	gold quality
testis	UBERON:0000473	82.94	gold quality
rectum	UBERON:0001052	73.95	gold quality
buccal mucosa cell	CL:0002336	72.39	gold quality
mucosa of transverse colon	UBERON:0004991	68.80	gold quality
tibialis anterior	UBERON:0001385	61.56	silver quality
transverse colon	UBERON:0001157	57.74	gold quality
pancreatic ductal cell	CL:0002079	57.02	silver quality
adult organism	UBERON:0007023	56.26	gold quality
cerebellar hemisphere	UBERON:0002245	55.00	gold quality
cerebellar cortex	UBERON:0002129	54.46	gold quality
ileal mucosa	UBERON:0000331	54.44	silver quality
cardiac muscle of right atrium	UBERON:0003379	54.34	gold quality
epithelial cell of pancreas	CL:0000083	54.29	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
kidney epithelium	UBERON:0004819	53.93	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality
cerebellum	UBERON:0002037	53.20	gold quality
colonic epithelium	UBERON:0000397	52.38	silver quality
right hemisphere of cerebellum	UBERON:0014890	51.95	gold quality
deltoid	UBERON:0001476	51.66	gold quality
myocardium	UBERON:0002349	50.25	gold quality
granulocyte	CL:0000094	47.87	silver quality
nasal cavity epithelium	UBERON:0005384	47.03	gold quality
quadriceps femoris	UBERON:0001377	46.97	gold quality
vastus lateralis	UBERON:0001379	45.40	gold quality
large intestine	UBERON:0000059	45.14	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.79

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Spmip10	ENSMUSG00000032900
rattus_norvegicus	Spmip10	ENSRNOG00000023034

Protein

Protein identifiers

Sperm-associated microtubule inner protein 10 — Q6ZNM6 (reviewed: Q6ZNM6)

Alternative names: Testis-expressed protein 43

All UniProt accessions (1): Q6ZNM6

UniProt curated annotations — full annotation on UniProt →

Function. Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in flagellum axoneme, which is required for flagellum beating. May serve to reinforce and thus stabilize the microtubule structure in the sperm flagella. Involved in the regulation of sperm motility.

Subunit / interactions. Microtubule inner protein component of sperm flagellar doublet microtubules.

Subcellular location. Cytoplasm. Cytoskeleton. Flagellum axoneme.

RefSeq proteins (1): NP_997291* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027965	SPMIP10	Family

Pfam: PF14983

UniProt features (1 total): chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZNM6-F1	59.41	0.01

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 59 (showing top): GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOCC_CYTOPLASMIC_REGION, GOCC_MOTILE_CILIUM, GOCC_CYTOPLASMIC_MICROTUBULE, GOCC_CILIUM, GOCC_AXONEMAL_MICROTUBULE, GOCC_9PLUS2_MOTILE_CILIUM, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, GOCC_SUPRAMOLECULAR_POLYMER, PRDM12_TARGET_GENES, ZNF22_TARGET_GENES, ZNF577_TARGET_GENES, ZNF664_TARGET_GENES

GO Biological Process (1): flagellated sperm motility (GO:0030317)

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

GO Cellular Component (7): sperm flagellum (GO:0036126), axonemal B tubule inner sheath (GO:0160112), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cilium (GO:0005929), motile cilium (GO:0031514), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cilium-dependent cell motility	1
cilium movement involved in cell motility	1
sperm motility	1
binding	1
9+2 motile cilium	1
A axonemal microtubule	1
axonemal microtubule doublet inner sheath	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cilium	1

Protein interactions and networks

STRING

204 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SPMIP10	LRRC43	Q8N309	689
SPMIP10	SPATA45	Q537H7	676
SPMIP10	TEX35	Q5T0J7	657
SPMIP10	ABHD18	Q0P651	645
SPMIP10	MINAR2	P59773	607
SPMIP10	PHAX	Q9H814	575
SPMIP10	CFAP141	Q5VU69	574
SPMIP10	MARCHF3	Q86UD3	573
SPMIP10	FAM181A	Q8N9Y4	567
SPMIP10	SPATA33	Q96N06	560
SPMIP10	GRAMD2B	Q96HH9	529
SPMIP10	SPEM1	Q8N4L4	527
SPMIP10	ANKRD60	Q9BZ19	527
SPMIP10	SPATA18	Q8TC71	515
SPMIP10	CBY2	Q8NA61	503

IntAct

22 interactions, top by confidence:

A	B	Type	Score
FNDC3B	SPMIP10	psi-mi:“MI:0915”(physical association)	0.560
NRF1	SPMIP10	psi-mi:“MI:0915”(physical association)	0.560
SPMIP10	LSM5	psi-mi:“MI:0915”(physical association)	0.560
SPMIP10	MAPRE3	psi-mi:“MI:0915”(physical association)	0.560
SAT1	SPMIP10	psi-mi:“MI:0915”(physical association)	0.560
POLR1C	SPMIP10	psi-mi:“MI:0915”(physical association)	0.560
ZNF76	SPMIP10	psi-mi:“MI:0915”(physical association)	0.560
LSM5	SPMIP10	psi-mi:“MI:0915”(physical association)	0.000
SAT1	SPMIP10	psi-mi:“MI:0915”(physical association)	0.000
POLR1C	SPMIP10	psi-mi:“MI:0915”(physical association)	0.000
ZNF76	SPMIP10	psi-mi:“MI:0915”(physical association)	0.000
MAPRE3	SPMIP10	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (9): TEX43 (Two-hybrid), TEX43 (Two-hybrid), TEX43 (Two-hybrid), TEX43 (Two-hybrid), TEX43 (Two-hybrid), TEX43 (Two-hybrid), TEX43 (Two-hybrid), TEX43 (Affinity Capture-MS), TEX43 (Positive Genetic)

ESM2 similar proteins: A0A1B0GVB3, A0A1B0GVH6, A2RRY8, A4IGV6, A6NHR8, B3DHS1, E1B9I5, O74317, O95561, P03319, P03320, P0C9Z5, P0C9Z6, P10260, P36353, P40744, P40745, Q06616, Q09280, Q09424, Q2KIL1, Q2KIR0, Q32KT7, Q32LB6, Q3T028, Q3TTI8, Q496A3, Q5NC83, Q5SQS8, Q5XIU7, Q68FQ8, Q6DFB0, Q6ZNM6, Q6ZV65, Q811V6, Q8IWA6, Q8N9R6, Q8R0E5, Q8TAL5, Q8WTQ4

Diamond homologs: A8SMG2, Q6ZNM6, Q9D9I1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

383 predictions. Top by Δscore:

Variant	Effect	Δscore
5:126632640:A:T	donor_gain	1.0000
5:126631821:G:GG	donor_gain	0.9900
5:126632639:G:GT	donor_gain	0.9900
5:126631813:GCTAA:G	donor_gain	0.9800
5:126631817:A:AG	donor_gain	0.9700
5:126631817:A:G	donor_gain	0.9700
5:126631746:G:T	donor_gain	0.9200
5:126631747:A:T	donor_gain	0.9200
5:126631796:A:T	donor_gain	0.9000
5:126631818:TAA:T	donor_gain	0.9000
5:126631826:GATT:G	donor_gain	0.8900
5:126631817:ATAAG:A	donor_loss	0.8700
5:126631818:TAAG:T	donor_loss	0.8700
5:126631819:AAGTA:A	donor_loss	0.8700
5:126631820:AGT:A	donor_loss	0.8700
5:126631821:GTA:G	donor_loss	0.8700
5:126631822:T:G	donor_loss	0.8700
5:126632537:A:AG	acceptor_gain	0.8700
5:126631819:AA:A	donor_gain	0.8600
5:126631793:A:G	donor_gain	0.8500
5:126631751:A:G	donor_gain	0.8400
5:126631823:AAG:A	donor_loss	0.8400
5:126632638:GGAAT:G	donor_gain	0.8300
5:126636030:A:AG	acceptor_gain	0.8300
5:126636031:G:GG	acceptor_gain	0.8300
5:126631816:AATAA:A	donor_gain	0.8100
5:126636031:GCAA:G	acceptor_gain	0.7900
5:126632650:TGAAG:T	donor_loss	0.7800
5:126632651:GAAGG:G	donor_loss	0.7800
5:126632652:AAGGT:A	donor_loss	0.7800

AlphaMissense

887 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:126632616:T:A	W53R	0.988
5:126632616:T:C	W53R	0.988
5:126636080:T:C	F82L	0.972
5:126636082:T:A	F82L	0.972
5:126636082:T:G	F82L	0.972
5:126636100:G:C	R88S	0.972
5:126636100:G:T	R88S	0.972
5:126632618:G:C	W53C	0.971
5:126632618:G:T	W53C	0.971
5:126632621:A:C	K54N	0.967
5:126632621:A:T	K54N	0.967
5:126632611:T:C	M51T	0.950
5:126632617:G:C	W53S	0.946
5:126636226:G:C	R130S	0.946
5:126636226:G:T	R130S	0.946
5:126636104:T:C	C90R	0.940
5:126632620:A:T	K54I	0.939
5:126632572:T:C	F38S	0.937
5:126636097:A:C	E87D	0.937
5:126636097:A:T	E87D	0.937
5:126636099:G:C	R88T	0.937
5:126636081:T:C	F82S	0.936
5:126636210:T:G	I125S	0.934
5:126632612:G:A	M51I	0.933
5:126632612:G:C	M51I	0.933
5:126632612:G:T	M51I	0.933
5:126636210:T:A	I125N	0.933
5:126636194:T:G	Y120D	0.930
5:126632639:G:C	R60S	0.927
5:126632639:G:T	R60S	0.927

dbSNP variants (sampled 300 via entrez): RS1000171953 (5:126629729 C>T), RS1000374163 (5:126635194 A>G), RS1000596633 (5:126632276 A>C), RS1000745299 (5:126635566 C>A), RS1001294696 (5:126630551 C>A), RS1001788596 (5:126633812 T>A,C), RS1002501152 (5:126635446 T>C), RS1003384094 (5:126634159 T>C), RS1003727254 (5:126632440 C>G,T), RS1005155085 (5:126631023 C>T), RS1006700352 (5:126634754 A>C), RS1006853699 (5:126631769 C>G), RS1007305110 (5:126633303 G>C), RS1007379112 (5:126632058 C>T), RS1007600127 (5:126632955 C>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

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
methylmercuric chloride	increases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
Catechin	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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