MAP7D1

gene
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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

FieldValue
HGNC IDHGNC:25514
Approved symbolMAP7D1
NameMAP7 domain containing 1
Location1p34.3
Locus typegene with protein product
StatusApproved
AliasesFLJ10350, FLJ39022
Ensembl geneENSG00000116871
Ensembl biotypeprotein_coding
Entrez55700

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

ExonStartEnd
ENSE000009167463617892136179025
ENSE000010371773617246436172627
ENSE000012545263617151336171581
ENSE000012550363617841936178596
ENSE000012550523617669736176842
ENSE000019137303618024836180849
ENSE000035046173617336436173478
ENSE000035049273617868536178823
ENSE000035500183617926236179315
ENSE000035939923617966636179756
ENSE000035996183617787336178201
ENSE000036168133617097136171315
ENSE000036264153617619936176581
ENSE000036274953617987436180067
ENSE000036319113617951536179557
ENSE000037879423617489836175008
ENSE000039220833615616036156463

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 IDTPM avgSamples expressed
215367.08571823
21542.71401392
21551.65131056
21571.1433665
21520.9008400
21560.8944393
21580.5515289
21510.4674243
21600.3901171
21590.3226152

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
apex of heartUBERON:000209899.18gold quality
C1 segment of cervical spinal cordUBERON:000646998.71gold quality
right atrium auricular regionUBERON:000663198.58gold quality
sural nerveUBERON:001548898.56gold quality
spinal cordUBERON:000224098.53gold quality
gastrocnemiusUBERON:000138898.42gold quality
cardiac atriumUBERON:000208198.40gold quality
right frontal lobeUBERON:000281098.37gold quality
heart left ventricleUBERON:000208498.34gold quality
prefrontal cortexUBERON:000045198.21gold quality
cardiac ventricleUBERON:000208298.18gold quality
hindlimb stylopod muscleUBERON:000425298.16gold quality
lower esophagusUBERON:001347398.04gold quality
lower esophagus muscularis layerUBERON:003583398.04gold quality
inferior vagus X ganglionUBERON:000536398.01gold quality
muscle of legUBERON:000138397.97gold quality
right hemisphere of cerebellumUBERON:001489097.97gold quality
esophagogastric junction muscularis propriaUBERON:003584197.87gold quality
muscle layer of sigmoid colonUBERON:003580597.79gold quality
cingulate cortexUBERON:000302797.77gold quality
anterior cingulate cortexUBERON:000983597.77gold quality
cerebellar hemisphereUBERON:000224597.75gold quality
cerebellar cortexUBERON:000212997.73gold quality
heartUBERON:000094897.67gold quality
hypothalamusUBERON:000189897.60gold quality
right coronary arteryUBERON:000162597.56gold quality
nucleus accumbensUBERON:000188297.56gold quality
skin of legUBERON:000151197.49gold quality
amygdalaUBERON:000187697.46gold quality
Brodmann (1909) area 9UBERON:001354097.40gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes11.16

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):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-6758-5P100.0066.211470
HSA-MIR-6856-5P100.0065.471298
HSA-MIR-574-5P100.0066.01989
HSA-MIR-6798-5P100.0065.77699
HSA-MIR-6867-5P100.0082.213464
HSA-MIR-6870-5P99.9968.552115
HSA-MIR-4723-5P99.9768.702034
HSA-MIR-569899.9768.492029
HSA-MIR-7111-5P99.9768.482062
HSA-MIR-6888-3P99.9765.951170
HSA-MIR-141-3P99.9472.792421
HSA-MIR-200A-3P99.9472.682420
HSA-MIR-144-3P99.9473.982698
HSA-MIR-3121-3P99.8271.963630
HSA-MIR-465899.7764.94514
HSA-MIR-6790-5P99.7765.24505
HSA-MIR-6764-5P99.7567.892304
HSA-MIR-365999.7067.97694
HSA-MIR-1915-3P99.5866.791988
HSA-MIR-3136-3P99.5766.59781
HSA-MIR-7155-3P99.5766.48794
HSA-MIR-516B-5P99.5666.331495
HSA-MIR-582-5P99.4770.792635
HSA-MIR-18A-5P99.2971.05806
HSA-MIR-18B-5P99.2971.05806
HSA-MIR-797499.2465.481137
HSA-MIR-6739-3P99.2268.841843
HSA-MIR-4735-3P99.1469.85777
HSA-MIR-93598.8269.361072
HSA-MIR-423-5P98.6967.481522

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

OrganismSymbolGene ID
danio_reriosi:ch73-281i18.3ENSDARG00000089402
danio_reriomap7d1aENSDARG00000098802
danio_reriosi:ch73-281i18.6ENSDARG00000101490
danio_reriosi:ch73-281i18.4ENSDARG00000102533
danio_reriosi:ch73-281i18.7ENSDARG00000103395
danio_reriomap7d1bENSDARG00000104701
mus_musculusMap7d1ENSMUSG00000028849
rattus_norvegicusMap7d1ENSRNOG00000010237
drosophila_melanogasterensFBGN0264693

Paralogs (3): MAP7D3 (ENSG00000129680), MAP7 (ENSG00000135525), MAP7D2 (ENSG00000184368)

Protein

Protein identifiers

MAP7 domain-containing protein 1Q3KQU3 (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 IDNamesCanonical?
Q3KQU3-11yes
Q3KQU3-22
Q3KQU3-33
Q3KQU3-44

RefSeq proteins (4): NP_001273294, NP_001273295, NP_001375419, NP_060537 (=MANE)

Domains & families (InterPro)

IDNameType
IPR008604MAP7_famFamily
IPR051483MAP7_domain-containingFamily

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)

ModelpLDDTFraction very-high
AF-Q3KQU3-F160.100.14

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:

CategoryTerms
intracellular membraneless organelle2
cellular anatomical structure2
cytoskeleton organization1
microtubule-based process1
centriole1
microtubule organizing center1
microtubule cytoskeleton1
cytoskeleton1
intracellular anatomical structure1

Protein interactions and networks

STRING

1698 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
MAP7D1MAPK6Q16659444
MAP7D1DNMBPQ6XZF7408
MAP7D1KIF21AQ7Z4S6404
MAP7D1CAMSAP3Q9P1Y5401
MAP7D1CLASP1Q7Z460396
MAP7D1GORASP1Q9BQQ3395
MAP7D1CAMSAP2Q08AD1390
MAP7D1TRIM46Q7Z4K8374
MAP7D1PROSER3Q2NL68373
MAP7D1KCNC3Q14003367
MAP7D1MAP7D3Q8IWC1363
MAP7D1KIF5CO60282362
MAP7D1DYNLT3P51808345
MAP7D1RBM26Q5T8P6340
MAP7D1MAP9Q49MG5338

IntAct

217 interactions, top by confidence:

ABTypeScore
SPC24NDC80psi-mi:“MI:0914”(association)0.920
YWHABPIK3C2Apsi-mi:“MI:0914”(association)0.800
YWHAGBLTP3Bpsi-mi:“MI:0914”(association)0.640
YWHAGBLTP3Bpsi-mi:“MI:2364”(proximity)0.640
YWHABBLTP3Bpsi-mi:“MI:2364”(proximity)0.610
YWHAEPIK3C2Apsi-mi:“MI:0914”(association)0.570
YWHAHBLTP3Bpsi-mi:“MI:0914”(association)0.570
YWHAZPIK3C2Apsi-mi:“MI:0914”(association)0.570
YWHAHBLTP3Bpsi-mi:“MI:2364”(proximity)0.570
TUBB3POTEFpsi-mi:“MI:0914”(association)0.530
ORF10PPT1psi-mi:“MI:0914”(association)0.530
NNOP56psi-mi:“MI:0914”(association)0.530
NRBM47psi-mi:“MI:0914”(association)0.530
YWHAZBLTP3Bpsi-mi:“MI:0914”(association)0.530
LTBRZNF724psi-mi:“MI:0914”(association)0.530
MAGEB2POLRMTpsi-mi:“MI:0914”(association)0.530
CLEC11AVWA8psi-mi:“MI:0914”(association)0.530
MAGEB2GTPBP10psi-mi:“MI:0914”(association)0.530
ZNRD2MYO9Apsi-mi:“MI:0914”(association)0.530
KIAA0753OFD1psi-mi:“MI:2364”(proximity)0.480
CFTRCNOT1psi-mi:“MI:0914”(association)0.480
DDX21MED19psi-mi:“MI:2364”(proximity)0.480
H3C1SMCHD1psi-mi:“MI:2364”(proximity)0.410
MAP7D1CCDC47psi-mi:“MI:0915”(physical association)0.400
MAP7D1SNRPB2psi-mi:“MI:0915”(physical association)0.400
Tubb4bMGST3psi-mi:“MI:0915”(physical association)0.400
Cep170NEURL4psi-mi:“MI:0914”(association)0.350
FOXL1IFRD1psi-mi:“MI:0914”(association)0.350
JUNTPM3psi-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:

PathwayPartnersFoldFDR
Activation of BAD and translocation to mitochondria742.6×1e-08
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex737.6×3e-08
SARS-CoV-1 targets host intracellular signalling and regulatory pathways737.6×3e-08
Activation of BH3-only proteins727.8×2e-07
Intrinsic Pathway for Apoptosis818.7×3e-07
RHO GTPases activate PKNs717.8×3e-06
SARS-CoV-1-host interactions1216.9×1e-09
Translocation of SLC2A4 (GLUT4) to the plasma membrane1316.1×4e-10

GO biological processes:

GO termPartnersFoldFDR
cytoplasmic translation1112.0×2e-06
mitotic spindle organization711.2×1e-03
negative regulation of translation78.1×6e-03
response to endoplasmic reticulum stress87.8×2e-03
translation116.7×5e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance119
Likely benign6
Benign3

Top pathogenic / likely-pathogenic (0)

SpliceAI

1976 predictions. Top by Δscore:

VariantEffectΔscore
1:36170957:T:TAacceptor_gain1.0000
1:36170960:T:Aacceptor_gain1.0000
1:36170966:TTCA:Tacceptor_loss1.0000
1:36170967:TCA:Tacceptor_loss1.0000
1:36170969:A:AGacceptor_gain1.0000
1:36170969:AG:Aacceptor_loss1.0000
1:36170969:AGCT:Aacceptor_gain1.0000
1:36170970:G:GGacceptor_gain1.0000
1:36170970:G:GTacceptor_loss1.0000
1:36170970:GCT:Gacceptor_gain1.0000
1:36170970:GCTG:Gacceptor_gain1.0000
1:36170970:GCTGT:Gacceptor_gain1.0000
1:36171506:T:Aacceptor_gain1.0000
1:36171510:CAGA:Cacceptor_loss1.0000
1:36171511:A:AGacceptor_gain1.0000
1:36171511:AGAG:Aacceptor_gain1.0000
1:36171512:G:GTacceptor_gain1.0000
1:36171512:GA:Gacceptor_gain1.0000
1:36171512:GAGG:Gacceptor_gain1.0000
1:36171512:GAGGT:Gacceptor_gain1.0000
1:36171580:GG:Gdonor_gain1.0000
1:36171581:GG:Gdonor_gain1.0000
1:36171582:G:GGdonor_gain1.0000
1:36171582:GTG:Gdonor_loss1.0000
1:36171583:T:Adonor_loss1.0000
1:36171594:G:GTdonor_gain1.0000
1:36172459:CACAG:Cacceptor_loss1.0000
1:36172460:ACAGC:Aacceptor_gain1.0000
1:36172462:A:ACacceptor_loss1.0000
1:36172462:A:AGacceptor_gain1.0000

AlphaMissense

5364 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
1:36176247:T:CL300P1.000
1:36172560:G:CR186P0.999
1:36172578:G:CR192P0.999
1:36172581:G:CR193P0.999
1:36176226:A:TE293V0.999
1:36176235:T:AI296N0.999
1:36176247:T:AL300Q0.999
1:36179266:T:CL712P0.999
1:36179275:T:CI715T0.999
1:36179275:T:GI715S0.999
1:36171555:G:CR145P0.998
1:36172471:G:CK156N0.998
1:36172471:G:TK156N0.998
1:36172536:G:CR178P0.998
1:36172580:C:AR193S0.998
1:36172599:G:CR199P0.998
1:36172605:G:CR201P0.998
1:36173376:G:CA213P0.998
1:36173379:G:CA214P0.998
1:36173430:T:AW231R0.998
1:36173430:T:CW231R0.998
1:36173436:T:AW233R0.998
1:36173436:T:CW233R0.998
1:36173438:G:CW233C0.998
1:36173438:G:TW233C0.998
1:36176222:T:AW292R0.998
1:36176222:T:CW292R0.998
1:36176225:G:AE293K0.998
1:36176244:G:CR299P0.998
1:36176267:T:CF307L0.998

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):

StudyTraitp-value
GCST010320_34PR interval1.000000e-08
GCST010321_172PR interval2.000000e-08

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0004462PR 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.

ChemicalActions (top 5)PubMed papers
sodium arsenitedecreases expression, increases expression3
bisphenol Saffects cotreatment, increases methylation, increases expression2
Benzo(a)pyreneaffects methylation, increases expression2
Cyclosporinedecreases expression, increases expression2
aristolochic acid Iincreases expression1
FR900359affects phosphorylation1
TAK-243increases sumoylation1
dicrotophosincreases expression1
triphenyl phosphateaffects expression1
bisphenol Aincreases expression1
lead acetateincreases expression1
pyrogallol 1,3-dimethyl etheraffects cotreatment, decreases expression, affects localization, increases expression1
methylparabenincreases expression1
cobaltous chlorideincreases expression1
cupric chlorideincreases expression1
coumarindecreases phosphorylation1
isobutyl alcoholaffects cotreatment, increases abundance, increases expression1
CGP 52608affects binding, increases reaction1
chloropicrindecreases expression1
perfluoro-n-nonanoic aciddecreases expression1
K 7174increases expression1
nutlin 3affects cotreatment, increases secretion1
abrineincreases expression1
Grape Seed Proanthocyanidinsaffects cotreatment, decreases expression1
bisphenol AFincreases expression1
Temozolomidedecreases expression1
Fulvestrantaffects cotreatment, increases methylation, decreases methylation1
Acetaminophenaffects response to substance1
Air Pollutantsaffects expression, increases abundance1
Ethanolaffects cotreatment, increases abundance, increases expression1

Cellosaurus cell lines

2 cell lines: 1 transformed cell line, 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_B3AMAbcam HEK293T MAP7D1 KOTransformed cell lineFemale
CVCL_E2BUHAP1 MAP7D1 (-)Cancer cell lineMale

Clinical trials (associated diseases)

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

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.