DZANK1

Summary

DZANK1 (double zinc ribbon and ankyrin repeat domains 1, HGNC:15858) is a protein-coding gene on chromosome 20p11.23, encoding Double zinc ribbon and ankyrin repeat-containing protein 1 (Q9NVP4). Involved in vesicle transport in photoreceptor cells.

This gene contains two ankyrin repeat-encoding regions. Ankyrin repeats are tandemly repeated modules of about 33 amino acids described as L-shaped structures consisting of a beta-hairpin and two alpha-helices. Ankyrin repeats occur in a large number of functionally diverse proteins, mainly from eukaryotes, and are known to function as protein-protein interaction domains.

Source: NCBI Gene 55184 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 140 total
• MANE Select transcript: NM_001367614

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15858
Approved symbol	DZANK1
Name	double zinc ribbon and ankyrin repeat domains 1
Location	20p11.23
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64
Ensembl gene	ENSG00000089091
Ensembl biotype	protein_coding
OMIM	620905
Entrez	55184

Gene structure

Transcript identifiers

Ensembl transcripts: 42 — 31 protein_coding, 6 nonsense_mediated_decay, 5 protein_coding_CDS_not_defined

ENST00000262547, ENST00000357236, ENST00000358866, ENST00000377630, ENST00000460891, ENST00000470526, ENST00000480488, ENST00000608192, ENST00000609267, ENST00000699525, ENST00000699568, ENST00000699588, ENST00000699589, ENST00000699590, ENST00000699591, ENST00000699592, ENST00000699593, ENST00000699607, ENST00000699608, ENST00000907846, ENST00000907847, ENST00000907848, ENST00000907849, ENST00000907850, ENST00000907851, ENST00000907852, ENST00000907853, ENST00000907854, ENST00000907855, ENST00000907856, ENST00000913455, ENST00000913456, ENST00000913457, ENST00000913458, ENST00000913459, ENST00000913460, ENST00000913461, ENST00000913462, ENST00000913463, ENST00000966278, ENST00000966279, ENST00000966280

RefSeq mRNA: 11 — MANE Select: NM_001367614 NM_001099407, NM_001351683, NM_001351684, NM_001367611, NM_001367612, NM_001367613, NM_001367614, NM_001367617, NM_001367618, NM_001367619, NM_018152

CCDS: CCDS46582, CCDS93012, CCDS93013, CCDS93014

Canonical transcript exons

ENST00000699568 — 21 exons

Exon	Start	End
ENSE00001434160	18412646	18412853
ENSE00003702774	18385016	18385090
ENSE00003703305	18427067	18427159
ENSE00003703607	18393711	18393811
ENSE00003703778	18389701	18389828
ENSE00003704132	18465250	18465377
ENSE00003706213	18396472	18396546
ENSE00003706317	18394254	18394350
ENSE00003707210	18383367	18384564
ENSE00003707579	18433652	18433765
ENSE00003707797	18443347	18443464
ENSE00003708151	18414348	18414512
ENSE00003708589	18415327	18415449
ENSE00003709809	18390379	18390459
ENSE00003710651	18398523	18398626
ENSE00003715460	18453731	18453827
ENSE00003732268	18460153	18460306
ENSE00003733138	18448984	18449069
ENSE00003734746	18455247	18455361
ENSE00003976859	18466996	18467030
ENSE00003976938	18452615	18452739

Expression profiles

Bgee: expression breadth ubiquitous, 212 present calls, max score 93.32.

FANTOM5 (CAGE): breadth broad, TPM avg 1.5301 / max 100.4753, expressed in 811 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
186542	1.4598	775
186541	0.0703	40

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	93.32	gold quality
bronchial epithelial cell	CL:0002328	92.84	gold quality
epithelium of bronchus	UBERON:0002031	92.40	gold quality
bronchus	UBERON:0002185	91.36	gold quality
male germ cell	CL:0000015	90.72	gold quality
right uterine tube	UBERON:0001302	88.81	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.16	gold quality
mucosa of paranasal sinus	UBERON:0005030	85.08	gold quality
endothelial cell	CL:0000115	83.36	gold quality
epithelium of nasopharynx	UBERON:0001951	81.83	silver quality
Brodmann (1909) area 23	UBERON:0013554	81.46	gold quality
choroid plexus epithelium	UBERON:0003911	81.11	silver quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	80.10	gold quality
caput epididymis	UBERON:0004358	79.65	gold quality
ventricular zone	UBERON:0003053	79.00	gold quality
adenohypophysis	UBERON:0002196	78.87	gold quality
nasal cavity epithelium	UBERON:0005384	78.39	silver quality
pituitary gland	UBERON:0000007	78.20	gold quality
primary visual cortex	UBERON:0002436	77.84	gold quality
oviduct epithelium	UBERON:0004804	77.56	gold quality
cortical plate	UBERON:0005343	77.54	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	77.19	gold quality
inferior olivary complex	UBERON:0002127	76.72	silver quality
right lobe of thyroid gland	UBERON:0001119	76.44	gold quality
thyroid gland	UBERON:0002046	76.02	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	75.90	silver quality
testis	UBERON:0000473	75.89	gold quality
fallopian tube	UBERON:0003889	75.89	gold quality
left lobe of thyroid gland	UBERON:0001120	75.81	gold quality
right testis	UBERON:0004534	75.67	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.88

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

47 targeting DZANK1, 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-4262	100.00	73.26	3931
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-4648	99.91	67.00	710
HSA-MIR-329-3P	99.91	66.56	1234
HSA-MIR-362-3P	99.91	66.38	1267
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-576-5P	99.84	70.46	2582
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-556-3P	99.74	68.75	1203
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-149-3P	99.72	68.22	3963

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	dzank1	ENSDARG00000055787
mus_musculus	Dzank1	ENSMUSG00000037259
rattus_norvegicus	Dzank1	ENSRNOG00000007440

Protein

Protein identifiers

Double zinc ribbon and ankyrin repeat-containing protein 1 — Q9NVP4 (reviewed: Q9NVP4)

All UniProt accessions (11): Q9NVP4, A0A087WTH2, A0A087X236, A0A0A0MRE2, A0A8V8TNE5, A0A8V8TNH6, A0A8V8TNM4, A0A8V8TNY6, A0A8V8TNZ7, A0A8V8TPU7, V9GY46

UniProt curated annotations — full annotation on UniProt →

Function. Involved in vesicle transport in photoreceptor cells.

Subunit / interactions. Interacts with NINL isoform 2. Associates with DYNC1H1 and multiple dynein intermediate and light chains as well as actin-binding proteins.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Cilium basal body.

Isoforms (5)

UniProt ID	Names	Canonical?
Q9NVP4-1	1	yes
Q9NVP4-2	2
Q9NVP4-3	3
Q9NVP4-4	4
Q9NVP4-5	5

RefSeq proteins (11): NP_001092877, NP_001338612, NP_001338613, NP_001354540, NP_001354541, NP_001354542, NP_001354543, NP_001354546, NP_001354547, NP_001354548, NP_060622 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002110	Ankyrin_rpt	Repeat
IPR025874	DZR	Domain
IPR026876	Fn3_assoc_repeat	Repeat
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR052481	DZAN1	Family

Pfam: PF12773, PF12796, PF13287

UniProt features (20 total): splice variant 8, sequence conflict 3, repeat 2, zinc finger region 2, modified residue 2, chain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NVP4-F1	64.80	0.20

Functional residue map

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

Post-translational modifications (2): 160, 182

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 114 (showing top): GOBP_NEUROGENESIS, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_EYE_PHOTORECEPTOR_CELL_DIFFERENTIATION, WTGAAAT_UNKNOWN, GOCC_CENTROSOME, GOBP_PHOTORECEPTOR_CELL_DEVELOPMENT, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, CYTAGCAAY_UNKNOWN, HELLER_HDAC_TARGETS_SILENCED_BY_METHYLATION_UP, GOBP_PHOTORECEPTOR_CELL_DIFFERENTIATION, GOBP_SENSORY_ORGAN_DEVELOPMENT, GOBP_SENSORY_ORGAN_MORPHOGENESIS, GOBP_EYE_PHOTORECEPTOR_CELL_DEVELOPMENT, MODULE_342

GO Biological Process (1): eye photoreceptor cell development (GO:0042462)

GO Molecular Function (3): zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (5): centrosome (GO:0005813), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cilium (GO:0005929), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
eye photoreceptor cell differentiation	1
photoreceptor cell development	1
transition metal ion binding	1
binding	1
cation binding	1
centriole	1
microtubule organizing center	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1

Protein interactions and networks

STRING

386 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DZANK1	ZNF133	P52736	502
DZANK1	NINL	Q9Y2I6	484
DZANK1	TROAP	Q12815	475
DZANK1	TMEM278	A6NKF7	471
DZANK1	OVOL2	Q9BRP0	466
DZANK1	CEP128	Q6ZU80	441
DZANK1	RNFT2	Q96EX2	432
DZANK1	CC2D2A	Q9P2K1	428
DZANK1	CPNE9	Q8IYJ1	421
DZANK1	ZCCHC18	P0CG32	419
DZANK1	LRRC40	Q9H9A6	419
DZANK1	RBBP9	O75884	418
DZANK1	LRRC24	Q50LG9	417
DZANK1	POLR3F	Q9H1D9	414
DZANK1	LONRF2	Q1L5Z9	405

IntAct

7 interactions, top by confidence:

A	B	Type	Score
DZANK1	DYNLL1	psi-mi:“MI:0914”(association)	0.510
DZANK1	HSP90AA4P	psi-mi:“MI:0914”(association)	0.350
DYNLL1	DZANK1	psi-mi:“MI:0915”(physical association)	0.000
DYNLL2	DZANK1	psi-mi:“MI:0915”(physical association)	0.000
GFI1B	DZANK1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (14): DZANK1 (Affinity Capture-MS), DZANK1 (Affinity Capture-MS), DZANK1 (Affinity Capture-MS), DZANK1 (Synthetic Lethality), DZANK1 (Affinity Capture-MS), HSP90AA4P (Affinity Capture-MS), CORO2A (Affinity Capture-MS), DZANK1 (Positive Genetic), DZANK1 (Proximity Label-MS), DZANK1 (Proximity Label-MS), DZANK1 (Proximity Label-MS), DZANK1 (Proximity Label-MS), DZANK1 (Affinity Capture-RNA), DZANK1 (Two-hybrid)

ESM2 similar proteins: A0A140LI67, B5KFD7, D4A7V9, M0R4F8, O08774, O35827, O43187, O70167, O70173, O88866, O88900, O95398, O95704, P0C5Y8, Q0P5I2, Q13322, Q14449, Q4QQS0, Q5BIW4, Q5ICW4, Q5JV73, Q5PQS0, Q5R810, Q60760, Q68DX3, Q6IFT4, Q6IRN0, Q6P4K6, Q6REY9, Q6S5L8, Q6TXD4, Q7TSI1, Q80TQ5, Q80VA5, Q8BW88, Q8CFA1, Q8IWE5, Q8R1C9, Q8R2S1, Q8VCC8

Diamond homologs: D4A039, Q1LXR6, Q8C008, Q9GKS9, Q9NVP4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	109
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

4399 predictions. Top by Δscore:

Variant	Effect	Δscore
20:18384562:CAT:C	acceptor_gain	1.0000
20:18384565:C:CC	acceptor_gain	1.0000
20:18389699:ACGGC:A	donor_gain	1.0000
20:18389700:CGGCC:C	donor_gain	1.0000
20:18390374:CTTA:C	donor_loss	1.0000
20:18390375:TTAC:T	donor_loss	1.0000
20:18390376:TAC:T	donor_loss	1.0000
20:18390377:A:AC	donor_gain	1.0000
20:18390378:C:A	donor_loss	1.0000
20:18390378:C:CC	donor_gain	1.0000
20:18390378:CCT:C	donor_gain	1.0000
20:18390459:GC:G	acceptor_loss	1.0000
20:18390460:C:CA	acceptor_loss	1.0000
20:18390460:C:CC	acceptor_gain	1.0000
20:18412855:CA:C	acceptor_gain	1.0000
20:18412856:A:C	acceptor_gain	1.0000
20:18448978:ACTT:A	donor_loss	1.0000
20:18448980:TTA:T	donor_loss	1.0000
20:18448981:TACTT:T	donor_loss	1.0000
20:18448982:A:AC	donor_gain	1.0000
20:18448982:ACTTG:A	donor_loss	1.0000
20:18448983:C:A	donor_loss	1.0000
20:18448983:C:CG	donor_gain	1.0000
20:18449070:C:CC	acceptor_gain	1.0000
20:18460147:A:C	donor_gain	1.0000
20:18460151:A:AC	donor_gain	1.0000
20:18460152:C:CC	donor_gain	1.0000
20:18384560:TGCAT:T	acceptor_gain	0.9900
20:18384561:GCAT:G	acceptor_gain	0.9900
20:18384562:CATC:C	acceptor_gain	0.9900

AlphaMissense

5094 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:18460169:C:G	A83P	0.997
20:18460162:G:T	A85D	0.996
20:18460174:A:T	V81D	0.996
20:18460283:A:C	Y45D	0.996
20:18412656:G:C	S474R	0.995
20:18412656:G:T	S474R	0.995
20:18412658:T:G	S474R	0.995
20:18398587:A:G	L491P	0.994
20:18455326:A:G	F100S	0.994
20:18465333:G:T	P9H	0.994
20:18398621:A:G	W480R	0.993
20:18398621:A:T	W480R	0.993
20:18460168:G:T	A83D	0.993
20:18433714:A:G	C267R	0.992
20:18455346:A:C	S93R	0.992
20:18455346:A:T	S93R	0.992
20:18455348:T:G	S93R	0.992
20:18460214:A:C	Y68D	0.991
20:18465258:A:G	M34T	0.991
20:18385065:C:G	A682P	0.990
20:18455325:A:C	F100L	0.990
20:18455325:A:T	F100L	0.990
20:18455327:A:G	F100L	0.990
20:18398557:A:G	F501S	0.989
20:18460195:A:T	L74Q	0.989
20:18396497:A:G	L529P	0.987
20:18398556:G:C	F501L	0.987
20:18398556:G:T	F501L	0.987
20:18398558:A:G	F501L	0.987
20:18460288:A:T	I43K	0.986

dbSNP variants (sampled 300 via entrez): RS1000003048 (20:18459751 G>A,C), RS1000031069 (20:18431113 T>A,C), RS1000047870 (20:18454831 T>C), RS1000096656 (20:18387391 A>G), RS1000116798 (20:18424374 G>C,T), RS1000171013 (20:18456898 G>A), RS1000229735 (20:18413391 G>C), RS1000443956 (20:18450585 A>G), RS1000446533 (20:18447781 T>C), RS1000449264 (20:18406837 A>T), RS1000453534 (20:18392664 C>T), RS1000532012 (20:18382888 C>T), RS1000560417 (20:18429421 A>G), RS1000575393 (20:18429061 T>A), RS1000614448 (20:18463361 G>A)

Disease associations

OMIM: gene MIM:620905 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST010002_62	Refractive error	2.000000e-08
GCST90002383_298	Hematocrit	3.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004348	hematocrit

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases methylation, increases expression, affects expression	3
methylmercuric chloride	decreases expression	1
uranyl acetate	increases expression	1
sodium arsenite	decreases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
Sunitinib	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation	1
Cadmium	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Methapyrilene	increases methylation	1
Methyl Methanesulfonate	increases expression	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Uranium	increases expression	1
Aflatoxin B1	increases methylation	1
Asbestos, Crocidolite	decreases expression	1

Clinical trials (associated diseases)

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