KIAA1671

Summary

KIAA1671 (HGNC:29345) is a protein-coding gene on chromosome 22q11.23, encoding Uncharacterized protein KIAA1671 (Q9BY89).

Located in cilium; intercellular bridge; and microtubule cytoskeleton.

Source: NCBI Gene 85379 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 182 total — 1 pathogenic
• MANE Select transcript: NM_001145206

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29345
Approved symbol	KIAA1671
Name	KIAA1671
Location	22q11.23
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000197077
Ensembl biotype	protein_coding
Entrez	85379

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 6 protein_coding, 2 retained_intron

ENST00000358431, ENST00000401395, ENST00000406486, ENST00000461374, ENST00000494730, ENST00000637069, ENST00000910712, ENST00000910713

RefSeq mRNA: 6 — MANE Select: NM_001145206 NM_001145206, NM_001386930, NM_001386932, NM_001386933, NM_001386934, NM_001386935

CCDS: CCDS46676, CCDS93135, CCDS93136

Canonical transcript exons

ENST00000358431 — 13 exons

Exon	Start	End
ENSE00001047448	25190702	25190784
ENSE00001047452	25174240	25174489
ENSE00001047462	25184977	25185119
ENSE00001047464	25177348	25177522
ENSE00001493179	25038760	25041525
ENSE00001493180	25032609	25032696
ENSE00001556767	25192406	25197448
ENSE00001558008	25027945	25029540
ENSE00001713587	25025633	25025784
ENSE00003488767	25049230	25049364
ENSE00003552760	25170820	25170938
ENSE00003632957	25181699	25181823
ENSE00003921051	24952716	24952772

Expression profiles

Bgee: expression breadth ubiquitous, 253 present calls, max score 98.49.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.8797 / max 147.7360, expressed in 1512 samples.

FANTOM5 promoters (17 alternative TSS)

Promoter ID	TPM avg	Samples expressed
191441	5.4170	1097
191440	5.0946	1300
191446	0.5649	148
191457	0.5462	325
191460	0.4859	229
191458	0.4414	256
191445	0.2314	103
191455	0.1971	106
191462	0.1739	77
191456	0.1646	81

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
upper arm skin	UBERON:0004263	98.49	gold quality
ileal mucosa	UBERON:0000331	98.47	gold quality
tibialis anterior	UBERON:0001385	98.27	gold quality
pancreatic ductal cell	CL:0002079	96.46	gold quality
bronchial epithelial cell	CL:0002328	96.46	gold quality
oocyte	CL:0000023	96.40	gold quality
parotid gland	UBERON:0001831	96.40	gold quality
bronchus	UBERON:0002185	96.36	gold quality
epithelial cell of pancreas	CL:0000083	96.23	gold quality
epithelium of nasopharynx	UBERON:0001951	96.12	gold quality
upper leg skin	UBERON:0004262	96.10	gold quality
secondary oocyte	CL:0000655	95.97	gold quality
oviduct epithelium	UBERON:0004804	95.80	gold quality
skin of hip	UBERON:0001554	95.72	gold quality
nasal cavity epithelium	UBERON:0005384	95.13	gold quality
urethra	UBERON:0000057	94.89	gold quality
mucosa of paranasal sinus	UBERON:0005030	94.82	gold quality
kidney epithelium	UBERON:0004819	94.79	gold quality
epithelium of mammary gland	UBERON:0003244	94.43	gold quality
mammary duct	UBERON:0001765	94.40	gold quality
deltoid	UBERON:0001476	94.28	gold quality
trachea	UBERON:0003126	94.13	gold quality
esophagus squamous epithelium	UBERON:0006920	94.03	gold quality
gingiva	UBERON:0001828	93.86	gold quality
cardiac muscle of right atrium	UBERON:0003379	93.78	gold quality
gingival epithelium	UBERON:0001949	93.69	gold quality
nasal cavity mucosa	UBERON:0001826	93.68	gold quality
jejunal mucosa	UBERON:0000399	93.67	gold quality
mammalian vulva	UBERON:0000997	93.62	gold quality
seminal vesicle	UBERON:0000998	93.27	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	11.29

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

171 targeting KIAA1671, 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-6867-5P	100.00	82.21	3464
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-5680	99.91	69.83	3421

Literature-anchored findings (GeneRIF, showing 1)

• KIAA1671 gene expression is decreased in both classic and follicular variants of papillary thyroid carcinoma. (PMID:21509594)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	tnks1bp1	ENSDARG00000068760
danio_rerio	si:ch73-138n13.1	ENSDARG00000075349
mus_musculus	2900026A02Rik	ENSMUSG00000051339
rattus_norvegicus	Kiaa1671	ENSRNOG00000052424

Paralogs (1): TNKS1BP1 (ENSG00000149115)

Protein

Protein identifiers

Uncharacterized protein KIAA1671 — Q9BY89 (reviewed: Q9BY89)

All UniProt accessions (2): Q9BY89, A0A1B0GVJ7

UniProt curated annotations — full annotation on UniProt →

Miscellaneous. Antibodies against KIAA1671 are present in sera from patients with breast cancer who developed several autoantibodies.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9BY89-1	1	yes
Q9BY89-2	2

RefSeq proteins (6): NP_001138678, NP_001373859, NP_001373861, NP_001373862, NP_001373863, NP_001373864 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR032764	Tankyrase-bd_C	Domain
IPR040006	TNKS1BP1-like	Family

Pfam: PF15327

UniProt features (81 total): modified residue 37, compositionally biased region 26, region of interest 14, splice variant 2, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BY89-F1	39.93	0.01

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 (37): 52, 56, 79, 87, 88, 92, 128, 244, 284, 366, 378, 384, 404, 458, 508, 600, 749, 969, 981, 1059 …

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 91 (showing top): BOYLAN_MULTIPLE_MYELOMA_PCA1_DN, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, GAVIN_FOXP3_TARGETS_CLUSTER_P4, GOCC_CILIUM, BOYLAN_MULTIPLE_MYELOMA_PCA3_UP, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_DN, MIKKELSEN_MEF_LCP_WITH_H3K4ME3, MIKKELSEN_ES_LCP_WITH_H3K4ME3, LI_INDUCED_T_TO_NATURAL_KILLER_UP, KRIEG_HYPOXIA_NOT_VIA_KDM3A, DURAND_STROMA_NS_UP, IWANAGA_CARCINOGENESIS_BY_KRAS_PTEN_UP, FOXN3_TARGET_GENES, NAB2_TARGET_GENES

GO Biological Process (0):

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

GO Cellular Component (3): cilium (GO:0005929), microtubule cytoskeleton (GO:0015630), intercellular bridge (GO:0045171)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cytoskeleton	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1892 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KIAA1671	CCDC102A	Q96A19	514
KIAA1671	RPP14	O95059	512
KIAA1671	GALNT16	Q8N428	477
KIAA1671	KRTAP10-1	P60331	433
KIAA1671	FRG2B	Q96QU4	432
KIAA1671	CCDC138	Q96M89	422
KIAA1671	CCDC89	Q8N998	417
KIAA1671	GABRR1	P24046	413
KIAA1671	ZNF70	Q9UC06	410
KIAA1671	CCDC77	Q9BR77	400
KIAA1671	OR4C5	Q8NGB2	397
KIAA1671	LRRIQ4	A6NIV6	392
KIAA1671	DSTYK	Q6XUX3	392
KIAA1671	ENTR1	Q96C92	380
KIAA1671	KRTAP4-3	Q9BYR4	370

IntAct

149 interactions, top by confidence:

A	B	Type	Score
IKBKG	IKBKB	psi-mi:“MI:0914”(association)	0.980
STRN3	STRN	psi-mi:“MI:2364”(proximity)	0.880
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640
CAPZB	CNOT1	psi-mi:“MI:0914”(association)	0.640
CAPZA2	CNOT1	psi-mi:“MI:0914”(association)	0.640
YWHAB	BLTP3B	psi-mi:“MI:2364”(proximity)	0.610
YWHAB	BLTP3B	psi-mi:“MI:0914”(association)	0.610
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570
CEP104	CCDC66	psi-mi:“MI:2364”(proximity)	0.540
MDM2	KIAA1671	psi-mi:“MI:0407”(direct interaction)	0.540
SKP2	DPYSL4	psi-mi:“MI:0914”(association)	0.530
SDF4	GTPBP6	psi-mi:“MI:0914”(association)	0.530
FHL2	CNOT1	psi-mi:“MI:0914”(association)	0.530
CAPZA1	CNOT1	psi-mi:“MI:0914”(association)	0.530
WDR83	SH2B2	psi-mi:“MI:0914”(association)	0.530
PM20D2	PRIM2	psi-mi:“MI:0914”(association)	0.530
ABLIM2	AFDN	psi-mi:“MI:0914”(association)	0.530
DCAF7	CLASP2	psi-mi:“MI:0914”(association)	0.510
KIAA1671	TP53	psi-mi:“MI:0915”(physical association)	0.400
CAPZA2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350

BioGRID (236): KIAA1671 (Affinity Capture-MS), KIAA1671 (Affinity Capture-MS), KIAA1671 (Affinity Capture-MS), KIAA1671 (Affinity Capture-MS), KIAA1671 (Affinity Capture-MS), KIAA1671 (Affinity Capture-MS), KIAA1671 (Proximity Label-MS), KIAA1671 (Proximity Label-MS), KIAA1671 (Proximity Label-MS), KIAA1671 (Proximity Label-MS), KIAA1671 (Proximity Label-MS), KIAA1671 (Proximity Label-MS), KIAA1671 (Proximity Label-MS), KIAA1671 (Proximity Label-MS), KIAA1671 (Proximity Label-MS)

ESM2 similar proteins: A1L170, A4IFJ0, A5D7K1, A6H7B4, A6NGG8, A6X8Z5, B1AXH1, D3ZMK9, O08696, O14513, O43151, P01099, P10637, P19103, P19332, Q08DN6, Q13522, Q2M1Z3, Q2TBN9, Q571I4, Q58CU6, Q5HYW2, Q5JSZ5, Q5M831, Q5M865, Q60664, Q640N3, Q68DA7, Q6DJE5, Q6PAC4, Q6ZW13, Q7LBC6, Q80U35, Q80U49, Q86YV5, Q8BG87, Q8C3W1, Q8C5R2, Q8C5W0, Q8WYL5

Diamond homologs: P58871, Q5ZJ26, Q8BRV5, Q9BY89, Q9C0C2

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 165 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Activation of BAD and translocation to mitochondria	7	48.9×	1e-08
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	43.1×	2e-08
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	43.1×	2e-08
Activation of BH3-only proteins	7	31.9×	1e-07
RHO GTPases activate PKNs	8	23.3×	1e-07
Intrinsic Pathway for Apoptosis	7	18.8×	3e-06
FOXO-mediated transcription	5	15.4×	3e-04
Loss of Nlp from mitotic centrosomes	9	13.1×	1e-06

GO biological processes:

GO term	Partners	Fold	FDR
centriole replication	5	24.8×	8e-04
intracellular protein localization	13	9.2×	2e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	150
Likely benign	14
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	Pathogenic

SpliceAI

4229 predictions. Top by Δscore:

Variant	Effect	Δscore
22:25032694:AAGGT:A	donor_loss	1.0000
22:25032697:GTAAG:G	donor_loss	1.0000
22:25032698:T:A	donor_loss	1.0000
22:25049222:T:TA	acceptor_gain	1.0000
22:25049224:TTTCA:T	acceptor_loss	1.0000
22:25049227:CAGGT:C	acceptor_loss	1.0000
22:25049228:A:AG	acceptor_gain	1.0000
22:25049228:A:G	acceptor_loss	1.0000
22:25049228:AG:A	acceptor_gain	1.0000
22:25049228:AGGT:A	acceptor_gain	1.0000
22:25049229:G:GT	acceptor_gain	1.0000
22:25049229:GG:G	acceptor_gain	1.0000
22:25049229:GGT:G	acceptor_gain	1.0000
22:25049229:GGTG:G	acceptor_gain	1.0000
22:25049346:G:GT	donor_gain	1.0000
22:25049361:TGTGG:T	donor_loss	1.0000
22:25049362:GTG:G	donor_gain	1.0000
22:25049362:GTGGT:G	donor_loss	1.0000
22:25049365:G:GA	donor_loss	1.0000
22:25049366:T:A	donor_loss	1.0000
22:25049367:G:GC	donor_loss	1.0000
22:25049368:A:AC	donor_loss	1.0000
22:25063445:G:GT	donor_gain	1.0000
22:25112167:T:A	acceptor_gain	1.0000
22:25112168:G:A	acceptor_gain	1.0000
22:25112171:T:A	acceptor_gain	1.0000
22:25170818:A:AG	acceptor_gain	1.0000
22:25170818:A:C	acceptor_loss	1.0000
22:25170819:G:GG	acceptor_gain	1.0000
22:25170900:G:GG	donor_gain	1.0000

AlphaMissense

11756 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:25190724:T:A	W1789R	0.996
22:25190724:T:C	W1789R	0.996
22:25040219:T:A	V1030D	0.995
22:25190726:G:C	W1789C	0.991
22:25190726:G:T	W1789C	0.991
22:25028870:T:C	F291L	0.989
22:25028872:T:A	F291L	0.989
22:25028872:T:G	F291L	0.989
22:25038964:G:C	A612P	0.988
22:25177507:T:C	F1687L	0.988
22:25177509:C:A	F1687L	0.988
22:25177509:C:G	F1687L	0.988
22:25040213:T:C	F1028S	0.986
22:25174481:T:C	F1631L	0.986
22:25174483:C:A	F1631L	0.986
22:25174483:C:G	F1631L	0.986
22:25177380:G:C	K1644N	0.986
22:25177380:G:T	K1644N	0.986
22:25040212:T:C	F1028L	0.985
22:25040214:T:A	F1028L	0.985
22:25040214:T:G	F1028L	0.985
22:25190741:A:C	K1794N	0.983
22:25190741:A:T	K1794N	0.983
22:25040216:C:A	A1029E	0.977
22:25038973:T:C	F615L	0.976
22:25038975:T:A	F615L	0.976
22:25038975:T:G	F615L	0.976
22:25190728:T:C	L1790P	0.976
22:25040215:G:C	A1029P	0.975
22:25190750:G:C	K1797N	0.975

dbSNP variants (sampled 300 via entrez): RS1000005018 (22:25183084 C>T), RS1000008700 (22:25064931 T>A), RS1000008993 (22:25141833 G>A), RS1000013595 (22:25183264 C>T), RS1000013949 (22:25105080 A>G), RS1000035461 (22:25142119 T>C), RS1000048006 (22:24995030 T>G), RS1000066419 (22:25105319 G>A), RS1000068911 (22:25102734 C>T), RS1000076541 (22:25046792 A>C,G), RS1000077528 (22:24995171 C>A), RS1000082102 (22:25064476 G>A,C), RS1000083101 (22:24968386 G>A), RS1000093820 (22:24987271 C>T), RS1000100826 (22:24955821 C>A,G,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

2 associations (top):

Study	Trait	p-value
GCST004493_11	Lower body strength	2.000000e-06
GCST006979_190	Heel bone mineral density	7.000000e-10

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007999	lower body strength measurement
EFO:0009270	heel bone mineral density

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases methylation, affects cotreatment, increases abundance, increases expression, decreases expression	4
trichostatin A	affects cotreatment, decreases expression	3
Benzo(a)pyrene	increases methylation, affects methylation, decreases expression	3
bisphenol A	affects cotreatment, increases methylation, increases expression	2
Calcitriol	increases expression	2
Aflatoxin B1	decreases expression, affects methylation	2
Cadmium Chloride	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, decreases expression	1
arsenite	affects binding, decreases reaction	1
butyraldehyde	decreases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
coumarin	affects phosphorylation	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Temozolomide	decreases expression	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	increases expression	1
Acrolein	affects cotreatment, decreases expression, increases abundance	1
Air Pollutants	affects cotreatment, decreases expression, increases abundance	1
Arsenic	increases abundance, affects cotreatment, decreases expression	1
Caffeine	affects phosphorylation	1

Clinical trials (associated diseases)

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