SUSD1

Summary

SUSD1 (sushi domain containing 1, HGNC:25413) is a protein-coding gene on chromosome 9q31.3-q32, encoding Sushi domain-containing protein 1 (Q6UWL2).

Predicted to enable calcium ion binding activity. Predicted to be located in membrane.

Source: NCBI Gene 64420 — RefSeq curated summary.

At a glance

• GWAS associations: 18
• Clinical variants (ClinVar): 103 total
• MANE Select transcript: NM_022486

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25413
Approved symbol	SUSD1
Name	sushi domain containing 1
Location	9q31.3-q32
Locus type	gene with protein product
Status	Approved
Aliases	DKFZP761E1824
Ensembl gene	ENSG00000106868
Ensembl biotype	protein_coding
Entrez	64420

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 14 protein_coding, 2 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000355396, ENST00000374263, ENST00000374264, ENST00000374270, ENST00000415074, ENST00000475283, ENST00000482851, ENST00000528773, ENST00000529933, ENST00000532348, ENST00000861054, ENST00000861055, ENST00000861056, ENST00000861057, ENST00000861058, ENST00000861059, ENST00000931618, ENST00000960398, ENST00000960399

RefSeq mRNA: 3 — MANE Select: NM_022486 NM_001282640, NM_001282643, NM_022486

CCDS: CCDS65105, CCDS65106, CCDS6783

Canonical transcript exons

ENST00000374270 — 17 exons

Exon	Start	End
ENSE00000720713	112111654	112111840
ENSE00000720729	112112771	112112868
ENSE00001612781	112062937	112063033
ENSE00001622103	112078538	112078724
ENSE00001640205	112052399	112052438
ENSE00001668205	112149244	112149399
ENSE00001722205	112058428	112058686
ENSE00001798540	112157500	112157613
ENSE00003461061	112080074	112080165
ENSE00003461995	112124257	112124436
ENSE00003469860	112041867	112041960
ENSE00003471387	112142320	112142499
ENSE00003477703	112040783	112041492
ENSE00003485577	112098470	112098662
ENSE00003499719	112102176	112102285
ENSE00003517129	112143471	112143623
ENSE00003900695	112175133	112175297

Expression profiles

Bgee: expression breadth ubiquitous, 204 present calls, max score 93.92.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.3164 / max 187.9243, expressed in 1755 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
102051	7.5595	1648
102053	2.5853	1184
102050	1.0088	489
102052	0.9786	524
102055	0.4789	234
102054	0.2373	101
102049	0.2349	97
102048	0.1937	82
102047	0.0394	15

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
monocyte	CL:0000576	93.92	gold quality
leukocyte	CL:0000738	93.59	gold quality
granulocyte	CL:0000094	91.01	gold quality
islet of Langerhans	UBERON:0000006	90.49	gold quality
blood	UBERON:0000178	85.87	gold quality
bone marrow cell	CL:0002092	84.74	gold quality
adrenal tissue	UBERON:0018303	83.44	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.30	gold quality
ileal mucosa	UBERON:0000331	82.49	silver quality
metanephros cortex	UBERON:0010533	82.15	gold quality
cortical plate	UBERON:0005343	81.99	gold quality
stromal cell of endometrium	CL:0002255	81.81	gold quality
ventricular zone	UBERON:0003053	81.79	gold quality
colonic epithelium	UBERON:0000397	81.54	gold quality
rectum	UBERON:0001052	81.50	gold quality
right adrenal gland cortex	UBERON:0035827	81.10	gold quality
vermiform appendix	UBERON:0001154	81.05	gold quality
decidua	UBERON:0002450	80.86	gold quality
placenta	UBERON:0001987	80.60	gold quality
right adrenal gland	UBERON:0001233	80.54	gold quality
adult mammalian kidney	UBERON:0000082	80.46	gold quality
ganglionic eminence	UBERON:0004023	80.44	gold quality
adrenal gland	UBERON:0002369	79.95	gold quality
upper lobe of left lung	UBERON:0008952	79.88	gold quality
left adrenal gland	UBERON:0001234	79.81	gold quality
smooth muscle tissue	UBERON:0001135	79.69	gold quality
upper lobe of lung	UBERON:0008948	79.58	gold quality
gall bladder	UBERON:0002110	79.53	gold quality
lymph node	UBERON:0000029	79.35	gold quality
left adrenal gland cortex	UBERON:0035825	79.34	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-100618	yes	1125.45
E-ANND-3	yes	5.28

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

41 targeting SUSD1, 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-4531	99.99	69.70	3181
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-519D-3P	99.88	73.97	2607
HSA-MIR-526B-3P	99.88	74.06	2587
HSA-MIR-93-5P	99.88	73.98	2606
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-372-3P	99.83	70.58	1691
HSA-MIR-205-5P	99.81	70.05	1557
HSA-MIR-636	99.80	69.58	1500
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-452-5P	99.65	69.63	1762
HSA-MIR-4676-3P	99.65	69.31	1733
HSA-MIR-892C-3P	99.65	69.38	1745
HSA-MIR-217-5P	99.49	69.93	1419
HSA-MIR-183-3P	99.41	69.41	1598
HSA-MIR-330-3P	99.41	69.95	2521
HSA-MIR-3678-3P	99.31	67.10	1432
HSA-MIR-6510-5P	99.14	66.59	1081

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	susd1	ENSDARG00000058839
mus_musculus	Susd1	ENSMUSG00000038578
rattus_norvegicus	Susd1	ENSRNOG00000056819

Protein

Protein identifiers

Sushi domain-containing protein 1 — Q6UWL2 (reviewed: Q6UWL2)

All UniProt accessions (5): Q6UWL2, F8WAQ1, H0Y6B2, H0YCH6, H3BLV4

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Isoforms (3)

UniProt ID	Names	Canonical?
Q6UWL2-1	1	yes
Q6UWL2-2	2
Q6UWL2-3	3

RefSeq proteins (3): NP_001269569, NP_001269572, NP_071931* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000152	EGF-type_Asp/Asn_hydroxyl_site	PTM
IPR000436	Sushi_SCR_CCP_dom	Domain
IPR000742	EGF	Domain
IPR001881	EGF-like_Ca-bd_dom	Domain
IPR009030	Growth_fac_rcpt_cys_sf	Homologous_superfamily
IPR018097	EGF_Ca-bd_CS	Conserved_site
IPR035976	Sushi/SCR/CCP_sf	Homologous_superfamily
IPR049883	NOTCH1_EGF-like	Domain
IPR051622	R-tyr_protein_phosphatases	Family
IPR057598	Fn3_PTPRU	Domain

Pfam: PF00084, PF07645, PF23144

UniProt features (32 total): disulfide bond 11, glycosylation site 7, domain 5, topological domain 2, splice variant 2, sequence variant 2, signal peptide 1, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6UWL2-F1	78.21	0.16

Functional residue map

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

Disulfide bonds (11): 39–48, 42–57, 59–71, 77–91, 85–100, 129–141, 135–150, 179–221, 206–234, 239–281, 266–294

Glycosylation sites (7): 87, 112, 193, 253, 348, 367, 563

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 135 (showing top): GSE45365_NK_CELL_VS_BCELL_DN, SRF_Q5_01, SRF_01, SRF_C, GATA3_01, GATA1_02, GATA_Q6, SCGGAAGY_ELK1_02, KOINUMA_TARGETS_OF_SMAD2_OR_SMAD3, PEDERSEN_METASTASIS_BY_ERBB2_ISOFORM_7, KRIEG_HYPOXIA_NOT_VIA_KDM3A, RREB1_01, CSHL1_TARGET_GENES, HES2_TARGET_GENES, PAX3_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (1): calcium ion binding (GO:0005509)

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
metal ion binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

592 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SUSD1	VMA22	Q96NT0	518
SUSD1	SUSD2	Q9UGT4	511
SUSD1	SLC46A2	Q9BY10	507
SUSD1	CAPN9	O14815	500
SUSD1	NIPSNAP3B	Q9BS92	494
SUSD1	CYP2F1	P24903	486
SUSD1	GARIN6	Q8NEG0	479
SUSD1	TBC1D9B	Q66K14	460
SUSD1	CNKSR2	Q8WXI2	460
SUSD1	ATP6V1G2	O95670	458
SUSD1	AP5M1	Q9H0R1	457
SUSD1	PARM1	Q6UWI2	456
SUSD1	TDRD3	Q9H7E2	450
SUSD1	SPG11	Q96JI7	444
SUSD1	CHFR	Q96EP1	443

IntAct

38 interactions, top by confidence:

A	B	Type	Score
EGFR	CTNND1	psi-mi:“MI:0914”(association)	0.750
SCGB1D1	FAM234B	psi-mi:“MI:0914”(association)	0.530
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
DEFA1	MANBA	psi-mi:“MI:0914”(association)	0.530
B4GAT1	ADCY6	psi-mi:“MI:0914”(association)	0.530
INSL5	COCH	psi-mi:“MI:0914”(association)	0.530
DIPK1A	TMEM259	psi-mi:“MI:0914”(association)	0.530
SUSD1	ATF7IP	psi-mi:“MI:0915”(physical association)	0.370
TMEM106A	QSOX1	psi-mi:“MI:0914”(association)	0.350
CLEC2D	TMEM120B	psi-mi:“MI:0914”(association)	0.350
ST8SIA4	FAM234B	psi-mi:“MI:0914”(association)	0.350
MPPE1	FAM234B	psi-mi:“MI:0914”(association)	0.350
RNASE13	POTEF	psi-mi:“MI:0914”(association)	0.350
PSCA	METTL15	psi-mi:“MI:0914”(association)	0.350
CRLF2	METTL15	psi-mi:“MI:0914”(association)	0.350
RLN1	RTL8C	psi-mi:“MI:0914”(association)	0.350
SCGB2A2	RTL8C	psi-mi:“MI:0914”(association)	0.350
GPIHBP1	SAC3D1	psi-mi:“MI:0914”(association)	0.350
CST9L	QSOX1	psi-mi:“MI:0914”(association)	0.350
CCL19	DCTN6	psi-mi:“MI:0914”(association)	0.350
PATE1	MANBA	psi-mi:“MI:0914”(association)	0.350
C1QA	MANBA	psi-mi:“MI:0914”(association)	0.350
PTPRK	MANBA	psi-mi:“MI:0914”(association)	0.350
DEFB135	MANBA	psi-mi:“MI:0914”(association)	0.350
DEFB107A	ZZEF1	psi-mi:“MI:0914”(association)	0.350
G0S2	OIP5	psi-mi:“MI:0914”(association)	0.350
DNAJC25-GNG10	CHST10	psi-mi:“MI:0914”(association)	0.350
CD1A	EXTL3	psi-mi:“MI:0914”(association)	0.350
EDDM3A	PLXNA2	psi-mi:“MI:0914”(association)	0.350

BioGRID (48): SUSD1 (Affinity Capture-MS), SUSD1 (Affinity Capture-MS), SUSD1 (Affinity Capture-MS), SUSD1 (Affinity Capture-MS), SUSD1 (Affinity Capture-MS), SUSD1 (Affinity Capture-MS), SUSD1 (Affinity Capture-MS), SUSD1 (Affinity Capture-MS), SUSD1 (Affinity Capture-MS), SUSD1 (Affinity Capture-MS), SUSD1 (Affinity Capture-MS), SUSD1 (Affinity Capture-MS), SUSD1 (Affinity Capture-MS), SUSD1 (Affinity Capture-RNA), SUSD1 (Affinity Capture-MS)

ESM2 similar proteins: A0JNA2, A4FUY1, C0HL12, O14514, O19131, O60241, O75325, P0C5H6, P15151, P32506, P32507, P70225, P98095, Q05BQ1, Q13477, Q14626, Q14CZ8, Q29RN8, Q3UHD1, Q4V9Z5, Q53EL9, Q5DRQ8, Q5R7Y0, Q5RF19, Q5STE3, Q63148, Q64385, Q6AX42, Q6BAA4, Q6MZW2, Q6UWL2, Q6UWL6, Q6UXD5, Q6WN34, Q7TSK2, Q7TSU7, Q8BHA1, Q8BQC3, Q8CGM1, Q8IVU1

Diamond homologs: A0A1D5NSM8, A2AVA0, D3YXF5, O02839, O19124, O35764, O43405, O62685, O62837, O70340, O76536, O95502, O96530, P00751, P04003, P04186, P06205, P06206, P06207, P06681, P07629, P08174, P08607, P0C6B8, P13944, P14151, P14650, P15529, P17690, P18337, P26022, P32018, P33703, P35419, P42201, P47970, P47971, P47972, P48199, P48759

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	85
Likely benign	12
Benign	6

Top pathogenic / likely-pathogenic (0)

SpliceAI

3953 predictions. Top by Δscore:

Variant	Effect	Δscore
9:112041866:CCACA:C	donor_gain	1.0000
9:112058473:C:CA	donor_gain	1.0000
9:112063041:CATGT:C	acceptor_gain	1.0000
9:112063042:A:C	acceptor_gain	1.0000
9:112063045:T:TC	acceptor_gain	1.0000
9:112080072:A:AC	donor_gain	1.0000
9:112080073:C:CT	donor_gain	1.0000
9:112080073:CT:C	donor_gain	1.0000
9:112080161:TTTTA:T	acceptor_gain	1.0000
9:112080162:TTTA:T	acceptor_gain	1.0000
9:112080163:TTA:T	acceptor_gain	1.0000
9:112080164:TA:T	acceptor_gain	1.0000
9:112080165:ACTG:A	acceptor_loss	1.0000
9:112080166:C:CC	acceptor_gain	1.0000
9:112080166:CT:C	acceptor_loss	1.0000
9:112080168:G:C	acceptor_gain	1.0000
9:112080171:G:GC	acceptor_gain	1.0000
9:112098663:C:CC	acceptor_gain	1.0000
9:112102174:A:AC	donor_gain	1.0000
9:112102175:C:CC	donor_gain	1.0000
9:112102283:CTT:C	acceptor_gain	1.0000
9:112109313:T:TA	donor_gain	1.0000
9:112109314:C:A	donor_gain	1.0000
9:112111649:CCTA:C	donor_loss	1.0000
9:112111651:TA:T	donor_loss	1.0000
9:112111652:A:AC	donor_gain	1.0000
9:112111652:ACCA:A	donor_loss	1.0000
9:112111653:C:CA	donor_loss	1.0000
9:112111653:C:CC	donor_gain	1.0000
9:112111653:CCAG:C	donor_gain	1.0000

AlphaMissense

4866 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:112149387:C:G	C77S	0.995
9:112149388:A:T	C77S	0.995
9:112157505:C:G	C71S	0.995
9:112157506:A:T	C71S	0.995
9:112142345:C:A	W227C	0.994
9:112142345:C:G	W227C	0.994
9:112149363:C:G	C85S	0.994
9:112149364:A:T	C85S	0.994
9:112149345:C:G	C91S	0.993
9:112149346:A:T	C91S	0.993
9:112149249:C:G	C123S	0.992
9:112149250:A:T	C123S	0.992
9:112149273:A:C	F115C	0.992
9:112149323:G:C	F98L	0.992
9:112149323:G:T	F98L	0.992
9:112149325:A:G	F98L	0.992
9:112157528:A:C	F63L	0.992
9:112157528:A:T	F63L	0.992
9:112157530:A:G	F63L	0.992
9:112149272:G:C	F115L	0.991
9:112149272:G:T	F115L	0.991
9:112149274:A:G	F115L	0.991
9:112149317:G:C	C100W	0.991
9:112157541:C:G	C59S	0.991
9:112157542:A:T	C59S	0.991
9:112149363:C:T	C85Y	0.990
9:112157541:C:T	C59Y	0.990
9:112149249:C:T	C123Y	0.989
9:112149311:G:C	C102W	0.989
9:112157506:A:G	C71R	0.989

dbSNP variants (sampled 300 via entrez): RS1000013592 (9:112094256 T>C), RS1000039010 (9:112157653 A>T), RS1000093212 (9:112043903 C>T), RS1000096938 (9:112131940 G>A), RS1000099032 (9:112118390 T>C), RS1000184435 (9:112071080 A>G), RS1000190941 (9:112108089 G>GA), RS1000251132 (9:112125894 G>A), RS1000289949 (9:112169076 G>A), RS1000307152 (9:112100258 C>A), RS1000321377 (9:112080979 A>G), RS1000351545 (9:112081717 G>A), RS1000358854 (9:112099184 A>T), RS1000365839 (9:112057318 A>T), RS1000383411 (9:112099013 C>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

18 associations (top):

Study	Trait	p-value
GCST000013_6	Amyotrophic lateral sclerosis	6.000000e-06
GCST001762_83	Obesity-related traits	4.000000e-06
GCST002012_6	Venous thromboembolism	3.000000e-06
GCST007354_6	Intracranial aneurysm	1.000000e-08
GCST008462_6	Plasma factor V levels in venous thrombosis (conditioned on rs6027)	6.000000e-06
GCST009525_3	Panic disorder	3.000000e-06
GCST010083_1	Hemoglobin levels	1.000000e-13
GCST90002383_520	Hematocrit	1.000000e-09
GCST90002383_521	Hematocrit	1.000000e-10
GCST90002384_264	Hemoglobin	4.000000e-10
GCST90002384_265	Hemoglobin	4.000000e-12
GCST90002390_396	Mean corpuscular hemoglobin	4.000000e-14
GCST90002392_543	Mean corpuscular volume	3.000000e-09
GCST90002403_616	Red blood cell count	4.000000e-12
GCST90002404_120	Red cell distribution width	8.000000e-15
GCST90002405_467	Reticulocyte count	1.000000e-11
GCST90002405_468	Reticulocyte count	9.000000e-11
GCST90002406_283	Reticulocyte fraction of red cells	1.000000e-12

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0003940	physical activity
EFO:0004509	hemoglobin measurement
EFO:0004348	hematocrit
EFO:0004527	mean corpuscular hemoglobin
EFO:0004305	erythrocyte count
EFO:0009188	Red cell distribution width
EFO:0007986	reticulocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation	2
Tetrachlorodibenzodioxin	increases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
sodium arsenite	increases expression	1
aflatoxin B2	decreases methylation	1
nickel sulfate	decreases expression	1
K 7174	increases expression	1
belinostat	decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Temozolomide	decreases expression	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Atrazine	decreases expression	1
Catechin	decreases expression, affects cotreatment	1
Cisplatin	affects cotreatment, decreases expression	1
Dexamethasone	increases expression	1
Doxorubicin	decreases expression	1
Nickel	increases expression	1
Smoke	decreases expression	1
Sodium Dodecyl Sulfate	increases expression	1
Thiram	decreases expression	1
Valproic Acid	affects expression	1
Vanadates	decreases expression	1
Aflatoxin B1	increases methylation	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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