MAP7D1
gene geneOn this page
Also known as FLJ10350FLJ39022
Summary
MAP7D1 (MAP7 domain containing 1, HGNC:25514) is a protein-coding gene on chromosome 1p34.3, encoding MAP7 domain-containing protein 1 (Q3KQU3). Microtubule-stabilizing protein involved in the control of cell motility and neurite outgrowth.
Predicted to be involved in microtubule cytoskeleton organization. Located in spindle.
Source: NCBI Gene 55700 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 146 total
- MANE Select transcript:
NM_001388490
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25514 |
| Approved symbol | MAP7D1 |
| Name | MAP7 domain containing 1 |
| Location | 1p34.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10350, FLJ39022 |
| Ensembl gene | ENSG00000116871 |
| Ensembl biotype | protein_coding |
| Entrez | 55700 |
Gene structure
Transcript identifiers
Ensembl transcripts: 30 — 24 protein_coding, 4 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000316156, ENST00000373148, ENST00000373150, ENST00000373151, ENST00000429533, ENST00000462118, ENST00000474796, ENST00000487114, ENST00000487131, ENST00000527764, ENST00000530729, ENST00000530975, ENST00000532131, ENST00000879383, ENST00000879384, ENST00000879385, ENST00000879386, ENST00000879387, ENST00000879388, ENST00000879389, ENST00000879390, ENST00000879391, ENST00000879392, ENST00000879393, ENST00000879394, ENST00000967866, ENST00000967867, ENST00000967868, ENST00000967869, ENST00000967870
RefSeq mRNA: 4 — MANE Select: NM_001388490
NM_001286365, NM_001286366, NM_001388490, NM_018067
CCDS: CCDS30673, CCDS65492, CCDS65493, CCDS90916
Canonical transcript exons
ENST00000474796 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000916746 | 36178921 | 36179025 |
| ENSE00001037177 | 36172464 | 36172627 |
| ENSE00001254526 | 36171513 | 36171581 |
| ENSE00001255036 | 36178419 | 36178596 |
| ENSE00001255052 | 36176697 | 36176842 |
| ENSE00001913730 | 36180248 | 36180849 |
| ENSE00003504617 | 36173364 | 36173478 |
| ENSE00003504927 | 36178685 | 36178823 |
| ENSE00003550018 | 36179262 | 36179315 |
| ENSE00003593992 | 36179666 | 36179756 |
| ENSE00003599618 | 36177873 | 36178201 |
| ENSE00003616813 | 36170971 | 36171315 |
| ENSE00003626415 | 36176199 | 36176581 |
| ENSE00003627495 | 36179874 | 36180067 |
| ENSE00003631911 | 36179515 | 36179557 |
| ENSE00003787942 | 36174898 | 36175008 |
| ENSE00003922083 | 36156160 | 36156463 |
Expression profiles
Bgee: expression breadth ubiquitous, 288 present calls, max score 99.18.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 76.7413 / max 645.0370, expressed in 1825 samples.
FANTOM5 promoters (15 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 2153 | 67.0857 | 1823 |
| 2154 | 2.7140 | 1392 |
| 2155 | 1.6513 | 1056 |
| 2157 | 1.1433 | 665 |
| 2152 | 0.9008 | 400 |
| 2156 | 0.8944 | 393 |
| 2158 | 0.5515 | 289 |
| 2151 | 0.4674 | 243 |
| 2160 | 0.3901 | 171 |
| 2159 | 0.3226 | 152 |
Top tissues by expression
296 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| apex of heart | UBERON:0002098 | 99.18 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 98.71 | gold quality |
| right atrium auricular region | UBERON:0006631 | 98.58 | gold quality |
| sural nerve | UBERON:0015488 | 98.56 | gold quality |
| spinal cord | UBERON:0002240 | 98.53 | gold quality |
| gastrocnemius | UBERON:0001388 | 98.42 | gold quality |
| cardiac atrium | UBERON:0002081 | 98.40 | gold quality |
| right frontal lobe | UBERON:0002810 | 98.37 | gold quality |
| heart left ventricle | UBERON:0002084 | 98.34 | gold quality |
| prefrontal cortex | UBERON:0000451 | 98.21 | gold quality |
| cardiac ventricle | UBERON:0002082 | 98.18 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 98.16 | gold quality |
| lower esophagus | UBERON:0013473 | 98.04 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 98.04 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 98.01 | gold quality |
| muscle of leg | UBERON:0001383 | 97.97 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 97.97 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 97.87 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 97.79 | gold quality |
| cingulate cortex | UBERON:0003027 | 97.77 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 97.77 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 97.75 | gold quality |
| cerebellar cortex | UBERON:0002129 | 97.73 | gold quality |
| heart | UBERON:0000948 | 97.67 | gold quality |
| hypothalamus | UBERON:0001898 | 97.60 | gold quality |
| right coronary artery | UBERON:0001625 | 97.56 | gold quality |
| nucleus accumbens | UBERON:0001882 | 97.56 | gold quality |
| skin of leg | UBERON:0001511 | 97.49 | gold quality |
| amygdala | UBERON:0001876 | 97.46 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 97.40 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 11.16 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
34 targeting MAP7D1, 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-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-6798-5P | 100.00 | 65.77 | 699 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-6888-3P | 99.97 | 65.95 | 1170 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-4658 | 99.77 | 64.94 | 514 |
| HSA-MIR-6790-5P | 99.77 | 65.24 | 505 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-3659 | 99.70 | 67.97 | 694 |
| HSA-MIR-1915-3P | 99.58 | 66.79 | 1988 |
| HSA-MIR-3136-3P | 99.57 | 66.59 | 781 |
| HSA-MIR-7155-3P | 99.57 | 66.48 | 794 |
| HSA-MIR-516B-5P | 99.56 | 66.33 | 1495 |
| HSA-MIR-582-5P | 99.47 | 70.79 | 2635 |
| HSA-MIR-18A-5P | 99.29 | 71.05 | 806 |
| HSA-MIR-18B-5P | 99.29 | 71.05 | 806 |
| HSA-MIR-7974 | 99.24 | 65.48 | 1137 |
| HSA-MIR-6739-3P | 99.22 | 68.84 | 1843 |
| HSA-MIR-4735-3P | 99.14 | 69.85 | 777 |
| HSA-MIR-935 | 98.82 | 69.36 | 1072 |
| HSA-MIR-423-5P | 98.69 | 67.48 | 1522 |
Literature-anchored findings (GeneRIF, showing 3)
- Here we show that in HeLa cells, the paralogous MT-associated proteins Map7 and Map7D1 (Map7/7D1) form an interdependent regulatory loop with Disheveled, the critical signal transducer in Wnt signaling (PMID:29880710)
- MAP7 proteins are microtubule-tethered kinesin-1 activators, with which the motor transiently interacts as it moves along microtubules. (PMID:30770434)
- Genome-wide 5-Hydroxymethylcytosine Profiling Analysis Identifies MAP7D1 as A Novel Regulator of Lymph Node Metastasis in Breast Cancer. (PMID:33716151)
Cross-species orthologs
9 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | si:ch73-281i18.3 | ENSDARG00000089402 |
| danio_rerio | map7d1a | ENSDARG00000098802 |
| danio_rerio | si:ch73-281i18.6 | ENSDARG00000101490 |
| danio_rerio | si:ch73-281i18.4 | ENSDARG00000102533 |
| danio_rerio | si:ch73-281i18.7 | ENSDARG00000103395 |
| danio_rerio | map7d1b | ENSDARG00000104701 |
| mus_musculus | Map7d1 | ENSMUSG00000028849 |
| rattus_norvegicus | Map7d1 | ENSRNOG00000010237 |
| drosophila_melanogaster | ens | FBGN0264693 |
Paralogs (3): MAP7D3 (ENSG00000129680), MAP7 (ENSG00000135525), MAP7D2 (ENSG00000184368)
Protein
Protein identifiers
MAP7 domain-containing protein 1 — Q3KQU3 (reviewed: Q3KQU3)
Alternative names: Arginine/proline-rich coiled-coil domain-containing protein 1, Proline/arginine-rich coiled-coil domain-containing protein 1
All UniProt accessions (5): Q3KQU3, C9JIR3, D3DPS3, E9PLH3, H0YF21
UniProt curated annotations — full annotation on UniProt →
Function. Microtubule-stabilizing protein involved in the control of cell motility and neurite outgrowth. Facilitate microtubule stabilization through the maintenance of acetylated stable microtubules.
Subcellular location. Cytoplasm. Cytoskeleton. Spindle. Microtubule organizing center. Centrosome. Midbody.
Similarity. Belongs to the MAP7 family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q3KQU3-1 | 1 | yes |
| Q3KQU3-2 | 2 | |
| Q3KQU3-3 | 3 | |
| Q3KQU3-4 | 4 |
RefSeq proteins (4): NP_001273294, NP_001273295, NP_001375419, NP_060537 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008604 | MAP7_fam | Family |
| IPR051483 | MAP7_domain-containing | Family |
Pfam: PF05672
UniProt features (61 total): modified residue 32, compositionally biased region 11, splice variant 6, region of interest 3, coiled-coil region 3, sequence variant 2, sequence conflict 2, chain 1, cross-link 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q3KQU3-F1 | 60.10 | 0.14 |
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 (33): 47, 51, 70, 86, 93, 97, 113, 116, 118, 123, 125, 254, 273, 313, 366, 399, 442, 446, 452, 454 …
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 162 (showing top):
GCACCTT_MIR18A_MIR18B, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOCC_MICROTUBULE_ORGANIZING_CENTER, BILD_HRAS_ONCOGENIC_SIGNATURE, WEI_MYCN_TARGETS_WITH_E_BOX, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, GOCC_CENTROSOME, chr1p34, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, TGANTCA_AP1_C, TGACATY_UNKNOWN, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, RYTTCCTG_ETS2_B, GOCC_SPINDLE, GOCC_MIDBODY
GO Biological Process (1): microtubule cytoskeleton organization (GO:0000226)
GO Molecular Function (0):
GO Cellular Component (6): centrosome (GO:0005813), spindle (GO:0005819), microtubule cytoskeleton (GO:0015630), midbody (GO:0030496), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular membraneless organelle | 2 |
| cellular anatomical structure | 2 |
| cytoskeleton organization | 1 |
| microtubule-based process | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| microtubule cytoskeleton | 1 |
| cytoskeleton | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1698 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MAP7D1 | MAPK6 | Q16659 | 444 |
| MAP7D1 | DNMBP | Q6XZF7 | 408 |
| MAP7D1 | KIF21A | Q7Z4S6 | 404 |
| MAP7D1 | CAMSAP3 | Q9P1Y5 | 401 |
| MAP7D1 | CLASP1 | Q7Z460 | 396 |
| MAP7D1 | GORASP1 | Q9BQQ3 | 395 |
| MAP7D1 | CAMSAP2 | Q08AD1 | 390 |
| MAP7D1 | TRIM46 | Q7Z4K8 | 374 |
| MAP7D1 | PROSER3 | Q2NL68 | 373 |
| MAP7D1 | KCNC3 | Q14003 | 367 |
| MAP7D1 | MAP7D3 | Q8IWC1 | 363 |
| MAP7D1 | KIF5C | O60282 | 362 |
| MAP7D1 | DYNLT3 | P51808 | 345 |
| MAP7D1 | RBM26 | Q5T8P6 | 340 |
| MAP7D1 | MAP9 | Q49MG5 | 338 |
IntAct
217 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SPC24 | NDC80 | psi-mi:“MI:0914”(association) | 0.920 |
| YWHAB | PIK3C2A | psi-mi:“MI:0914”(association) | 0.800 |
| YWHAG | BLTP3B | psi-mi:“MI:0914”(association) | 0.640 |
| YWHAG | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.640 |
| YWHAB | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.610 |
| YWHAE | PIK3C2A | psi-mi:“MI:0914”(association) | 0.570 |
| YWHAH | BLTP3B | psi-mi:“MI:0914”(association) | 0.570 |
| YWHAZ | PIK3C2A | psi-mi:“MI:0914”(association) | 0.570 |
| YWHAH | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.570 |
| TUBB3 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| ORF10 | PPT1 | psi-mi:“MI:0914”(association) | 0.530 |
| N | NOP56 | psi-mi:“MI:0914”(association) | 0.530 |
| N | RBM47 | psi-mi:“MI:0914”(association) | 0.530 |
| YWHAZ | BLTP3B | psi-mi:“MI:0914”(association) | 0.530 |
| LTBR | ZNF724 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | POLRMT | psi-mi:“MI:0914”(association) | 0.530 |
| CLEC11A | VWA8 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNRD2 | MYO9A | psi-mi:“MI:0914”(association) | 0.530 |
| KIAA0753 | OFD1 | psi-mi:“MI:2364”(proximity) | 0.480 |
| CFTR | CNOT1 | psi-mi:“MI:0914”(association) | 0.480 |
| DDX21 | MED19 | psi-mi:“MI:2364”(proximity) | 0.480 |
| H3C1 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.410 |
| MAP7D1 | CCDC47 | psi-mi:“MI:0915”(physical association) | 0.400 |
| MAP7D1 | SNRPB2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Tubb4b | MGST3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Cep170 | NEURL4 | psi-mi:“MI:0914”(association) | 0.350 |
| FOXL1 | IFRD1 | psi-mi:“MI:0914”(association) | 0.350 |
| JUN | TPM3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (211): MAP7D1 (Affinity Capture-MS), MAP7D1 (Affinity Capture-MS), MAP7D1 (Affinity Capture-MS), MAP7D1 (Biochemical Activity), MAP7D1 (Proximity Label-MS), MAP7D1 (Proximity Label-MS), MAP7D1 (Proximity Label-MS), MAP7D1 (Proximity Label-MS), MAP7D1 (Proximity Label-MS), MAP7D1 (Proximity Label-MS), MAP7D1 (Proximity Label-MS), MAP7D1 (Affinity Capture-MS), MAP7D1 (Affinity Capture-MS), MAP7D1 (Affinity Capture-MS), MAP7D1 (Affinity Capture-MS)
ESM2 similar proteins: A0A8I5ZM56, A2AG50, A2AI08, A2AJI0, A5D7K1, D4A4L4, E1C2Q8, F1LR10, O00515, O14529, O75128, O88573, O88735, P51825, P57016, Q14244, Q32LQ1, Q3KQU3, Q3U2K0, Q5JTD0, Q5NBX1, Q5PR69, Q5R7F9, Q5XHX2, Q5ZIA2, Q5ZJJ1, Q68DK7, Q6IPM2, Q6NV74, Q6NZF1, Q6PDH0, Q6PDM1, Q6PG95, Q6ZU35, Q86UU1, Q8CCJ4, Q8K124, Q8N7J2, Q8TD55, Q96PV7
Diamond homologs: A0A8I5ZM56, A2AG50, A2AJI0, D4A4L4, O88735, Q14244, Q3KQU3, Q5R7F9, Q5ZIA2, Q96T17
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 206 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 | 42.6× | 1e-08 |
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 7 | 37.6× | 3e-08 |
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 7 | 37.6× | 3e-08 |
| Activation of BH3-only proteins | 7 | 27.8× | 2e-07 |
| Intrinsic Pathway for Apoptosis | 8 | 18.7× | 3e-07 |
| RHO GTPases activate PKNs | 7 | 17.8× | 3e-06 |
| SARS-CoV-1-host interactions | 12 | 16.9× | 1e-09 |
| Translocation of SLC2A4 (GLUT4) to the plasma membrane | 13 | 16.1× | 4e-10 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 11 | 12.0× | 2e-06 |
| mitotic spindle organization | 7 | 11.2× | 1e-03 |
| negative regulation of translation | 7 | 8.1× | 6e-03 |
| response to endoplasmic reticulum stress | 8 | 7.8× | 2e-03 |
| translation | 11 | 6.7× | 5e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
146 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 119 |
| Likely benign | 6 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1976 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:36170957:T:TA | acceptor_gain | 1.0000 |
| 1:36170960:T:A | acceptor_gain | 1.0000 |
| 1:36170966:TTCA:T | acceptor_loss | 1.0000 |
| 1:36170967:TCA:T | acceptor_loss | 1.0000 |
| 1:36170969:A:AG | acceptor_gain | 1.0000 |
| 1:36170969:AG:A | acceptor_loss | 1.0000 |
| 1:36170969:AGCT:A | acceptor_gain | 1.0000 |
| 1:36170970:G:GG | acceptor_gain | 1.0000 |
| 1:36170970:G:GT | acceptor_loss | 1.0000 |
| 1:36170970:GCT:G | acceptor_gain | 1.0000 |
| 1:36170970:GCTG:G | acceptor_gain | 1.0000 |
| 1:36170970:GCTGT:G | acceptor_gain | 1.0000 |
| 1:36171506:T:A | acceptor_gain | 1.0000 |
| 1:36171510:CAGA:C | acceptor_loss | 1.0000 |
| 1:36171511:A:AG | acceptor_gain | 1.0000 |
| 1:36171511:AGAG:A | acceptor_gain | 1.0000 |
| 1:36171512:G:GT | acceptor_gain | 1.0000 |
| 1:36171512:GA:G | acceptor_gain | 1.0000 |
| 1:36171512:GAGG:G | acceptor_gain | 1.0000 |
| 1:36171512:GAGGT:G | acceptor_gain | 1.0000 |
| 1:36171580:GG:G | donor_gain | 1.0000 |
| 1:36171581:GG:G | donor_gain | 1.0000 |
| 1:36171582:G:GG | donor_gain | 1.0000 |
| 1:36171582:GTG:G | donor_loss | 1.0000 |
| 1:36171583:T:A | donor_loss | 1.0000 |
| 1:36171594:G:GT | donor_gain | 1.0000 |
| 1:36172459:CACAG:C | acceptor_loss | 1.0000 |
| 1:36172460:ACAGC:A | acceptor_gain | 1.0000 |
| 1:36172462:A:AC | acceptor_loss | 1.0000 |
| 1:36172462:A:AG | acceptor_gain | 1.0000 |
AlphaMissense
5364 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:36176247:T:C | L300P | 1.000 |
| 1:36172560:G:C | R186P | 0.999 |
| 1:36172578:G:C | R192P | 0.999 |
| 1:36172581:G:C | R193P | 0.999 |
| 1:36176226:A:T | E293V | 0.999 |
| 1:36176235:T:A | I296N | 0.999 |
| 1:36176247:T:A | L300Q | 0.999 |
| 1:36179266:T:C | L712P | 0.999 |
| 1:36179275:T:C | I715T | 0.999 |
| 1:36179275:T:G | I715S | 0.999 |
| 1:36171555:G:C | R145P | 0.998 |
| 1:36172471:G:C | K156N | 0.998 |
| 1:36172471:G:T | K156N | 0.998 |
| 1:36172536:G:C | R178P | 0.998 |
| 1:36172580:C:A | R193S | 0.998 |
| 1:36172599:G:C | R199P | 0.998 |
| 1:36172605:G:C | R201P | 0.998 |
| 1:36173376:G:C | A213P | 0.998 |
| 1:36173379:G:C | A214P | 0.998 |
| 1:36173430:T:A | W231R | 0.998 |
| 1:36173430:T:C | W231R | 0.998 |
| 1:36173436:T:A | W233R | 0.998 |
| 1:36173436:T:C | W233R | 0.998 |
| 1:36173438:G:C | W233C | 0.998 |
| 1:36173438:G:T | W233C | 0.998 |
| 1:36176222:T:A | W292R | 0.998 |
| 1:36176222:T:C | W292R | 0.998 |
| 1:36176225:G:A | E293K | 0.998 |
| 1:36176244:G:C | R299P | 0.998 |
| 1:36176267:T:C | F307L | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000002845 (1:36170627 G>T), RS1000081836 (1:36158613 C>A,T), RS1000167327 (1:36159891 T>C,G), RS1000190762 (1:36176090 T>C,G), RS1000597378 (1:36179638 G>A,T), RS1000682116 (1:36167113 T>C), RS1000845680 (1:36164631 G>A), RS1000897490 (1:36158099 T>C), RS1000996551 (1:36171800 G>A), RS1001151592 (1:36171958 A>C), RS1001225164 (1:36157985 C>G), RS1001347571 (1:36164100 A>G), RS1001361744 (1:36164985 T>C), RS1001399765 (1:36159059 T>C), RS1001447547 (1:36157639 C>A)
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 |
|---|---|---|
| GCST010320_34 | PR interval | 1.000000e-08 |
| GCST010321_172 | PR interval | 2.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004462 | PR interval |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
54 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 3 |
| bisphenol S | affects cotreatment, increases methylation, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, increases expression | 2 |
| Cyclosporine | decreases expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| lead acetate | increases expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, decreases expression, affects localization, increases expression | 1 |
| methylparaben | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| cupric chloride | increases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| isobutyl alcohol | affects cotreatment, increases abundance, increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| chloropicrin | decreases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| K 7174 | increases expression | 1 |
| nutlin 3 | affects cotreatment, increases secretion | 1 |
| abrine | increases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation, decreases methylation | 1 |
| Acetaminophen | affects response to substance | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Ethanol | affects cotreatment, increases abundance, increases expression | 1 |
Cellosaurus cell lines
2 cell lines: 1 transformed cell line, 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3AM | Abcam HEK293T MAP7D1 KO | Transformed cell line | Female |
| CVCL_E2BU | HAP1 MAP7D1 (-) | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.