JKAMP

Summary

JKAMP (JNK1/MAPK8 associated membrane protein, HGNC:20184) is a protein-coding gene on chromosome 14q23.1, encoding JNK1/MAPK8-associated membrane protein (Q9P055). Regulates the duration of MAPK8 activity in response to various stress stimuli.

Enables ubiquitin protein ligase binding activity. Involved in ERAD pathway. Predicted to be located in endoplasmic reticulum membrane.

Source: NCBI Gene 51528 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 46 total — 4 likely-pathogenic
• MANE Select transcript: NM_016475

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20184
Approved symbol	JKAMP
Name	JNK1/MAPK8 associated membrane protein
Location	14q23.1
Locus type	gene with protein product
Status	Approved
Aliases	HSPC213, JAMP, HSPC327, CDA06
Ensembl gene	ENSG00000050130
Ensembl biotype	protein_coding
OMIM	611176
Entrez	51528

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 11 protein_coding, 5 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000356057, ENST00000425728, ENST00000553156, ENST00000553647, ENST00000553941, ENST00000554271, ENST00000554721, ENST00000554754, ENST00000554795, ENST00000555491, ENST00000556985, ENST00000557560, ENST00000602482, ENST00000616435, ENST00000880433, ENST00000921215, ENST00000921216, ENST00000921217, ENST00000958985

RefSeq mRNA: 6 — MANE Select: NM_016475 NM_001098625, NM_001284201, NM_001284202, NM_001284203, NM_001284204, NM_016475

CCDS: CCDS45116, CCDS45117, CCDS61462, CCDS61463

Canonical transcript exons

ENST00000616435 — 7 exons

Exon	Start	End
ENSE00001340978	59484517	59484593
ENSE00003459844	59495018	59495224
ENSE00003519880	59486713	59486804
ENSE00003526465	59487674	59487828
ENSE00003723595	59503854	59505410
ENSE00003786471	59501191	59501267
ENSE00003843246	59498727	59498908

Expression profiles

Bgee: expression breadth ubiquitous, 255 present calls, max score 97.36.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 40.4833 / max 605.1031, expressed in 1810 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
139851	40.3733	1809
207240	0.1099	32

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
islet of Langerhans	UBERON:0000006	97.36	gold quality
tibia	UBERON:0000979	96.20	gold quality
monocyte	CL:0000576	95.98	gold quality
adrenal tissue	UBERON:0018303	95.94	gold quality
kidney epithelium	UBERON:0004819	95.90	gold quality
pigmented layer of retina	UBERON:0001782	95.87	gold quality
leukocyte	CL:0000738	95.70	gold quality
oviduct epithelium	UBERON:0004804	95.44	gold quality
epithelial cell of pancreas	CL:0000083	95.27	gold quality
parietal pleura	UBERON:0002400	95.18	gold quality
cardiac muscle of right atrium	UBERON:0003379	95.14	gold quality
upper arm skin	UBERON:0004263	95.09	gold quality
bronchial epithelial cell	CL:0002328	95.06	gold quality
rectum	UBERON:0001052	95.02	gold quality
gall bladder	UBERON:0002110	94.97	gold quality
myocardium	UBERON:0002349	94.92	gold quality
smooth muscle tissue	UBERON:0001135	94.88	gold quality
calcaneal tendon	UBERON:0003701	94.74	gold quality
stromal cell of endometrium	CL:0002255	94.70	gold quality
bronchus	UBERON:0002185	94.68	gold quality
visceral pleura	UBERON:0002401	94.67	gold quality
left ventricle myocardium	UBERON:0006566	94.65	gold quality
ileal mucosa	UBERON:0000331	94.64	gold quality
caput epididymis	UBERON:0004358	94.56	gold quality
pituitary gland	UBERON:0000007	94.50	gold quality
adenohypophysis	UBERON:0002196	94.43	gold quality
pons	UBERON:0000988	94.39	gold quality
right uterine tube	UBERON:0001302	94.35	gold quality
nasal cavity mucosa	UBERON:0001826	94.34	gold quality
germinal epithelium of ovary	UBERON:0001304	94.28	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.50

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

59 targeting JKAMP, 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-3163	100.00	77.23	8605
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-1208	99.70	68.28	1533
HSA-MIR-545-5P	99.66	70.18	2308
HSA-MIR-3685	99.62	68.83	1621
HSA-MIR-888-3P	99.53	69.77	1057
HSA-MIR-7159-3P	99.51	70.17	1920
HSA-MIR-199A-5P	99.51	69.71	1107
HSA-MIR-199B-5P	99.51	69.74	1098
HSA-MIR-208A-5P	99.42	70.83	1913
HSA-MIR-208B-5P	99.42	70.83	1952
HSA-MIR-330-3P	99.41	69.95	2521
HSA-MIR-3182	99.40	68.15	2454
HSA-MIR-4251	99.40	69.19	3363

Literature-anchored findings (GeneRIF, showing 5)

• Identification and functional characterization of the mouse Jamp ortholog. (PMID:16166642)
• JAMP is an important component for coordinated clearance of misfolded proteins from the endoplasmic reticulum. (PMID:18784250)
• RNF5 associates with JAMP in the ER membrane. This association results in Ubc13-dependent RNF5-mediated noncanonical ubiquitination of JAMP. (PMID:19269966)
• Expression of DP, a receptor largely retained in the ER, promoted proteasome recruitment by JAMP. (PMID:23798571)
• synergistic function of Jnk1 in haematopoietic cells and hepatocytes might be relevant for the development of chronic liver injury (PMID:25173965)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	jkamp	ENSDARG00000028581
mus_musculus	Jkamp	ENSMUSG00000005078
mus_musculus	Jkampl	ENSMUSG00000056197
rattus_norvegicus	Jkamp	ENSRNOG00000004751
rattus_norvegicus	Jkampl	ENSRNOG00000024604
drosophila_melanogaster	CG2126	FBGN0039876
caenorhabditis_elegans		WBGENE00019807

Protein

Protein identifiers

JNK1/MAPK8-associated membrane protein — Q9P055 (reviewed: Q9P055)

Alternative names: JNK1-associated membrane protein, Medulloblastoma antigen MU-MB-50.4

All UniProt accessions (5): Q9P055, G3V2M4, G3V2R2, G3V372, G3V4D0

UniProt curated annotations — full annotation on UniProt →

Function. Regulates the duration of MAPK8 activity in response to various stress stimuli. Facilitates degradation of misfolded endoplasmic reticulum (ER) proteins through the recruitment of components of the proteasome and endoplasmic reticulum-associated degradation (ERAD) system.

Subunit / interactions. Interacts with RNF5 and MAPK8, but not with MAPK9. Binding to MAPK8 occurs before and after exposure to stress, such as UV irradiation. After exposure to stress, interacts with phosphorylated MAPK8. Competes with DUSP10 for MAPK8 binding. Associates with multiple components of the proteasome and with ERAD regulatory proteins including AMFR/GP78, CANX, PSMC1, PSMC2, PSMC3/TBP1, PSMC5, PSMC6, PSMD8, SEC61-ALPHA and UFD1. Interacts with DERL1 (in the presence of misfolded protein CFTR(F508del)).

Subcellular location. Endoplasmic reticulum membrane.

Post-translational modifications. Ubiquitinated by RNF5 via ‘Lys-63’-linked ubiquitin linkage in a UBE2N-dependent manner. Ubiquitination decreases association with components of the proteasome and ERAD.

Induction. Basal expression under nonstress conditions; expression increases transiently after endoplasmic reticulum (ER) stress.

Miscellaneous. Elevated expression in medulloblastomas. Patients with cancer had 2 to 12-fold higher frequencies of antibodies against this antigen.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9P055-4	1	yes
Q9P055-2	2
Q9P055-3	3
Q9P055-5	4

RefSeq proteins (6): NP_001092095, NP_001271130, NP_001271131, NP_001271132, NP_001271133, NP_057559* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008485	JAMP	Family

Pfam: PF05571

UniProt features (23 total): topological domain 8, transmembrane region 7, splice variant 3, sequence conflict 3, chain 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9P055-F1	86.76	0.54

Functional residue map

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

Glycosylation sites (1): 22

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 120 (showing top): GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GCM_GSPT1, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, WEI_MYCN_TARGETS_WITH_E_BOX, MOLENAAR_TARGETS_OF_CCND1_AND_CDK4_DN, DOUGLAS_BMI1_TARGETS_DN, GUO_HEX_TARGETS_DN, chr14q23, GCM_NF2, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS, GOBP_ERAD_PATHWAY, ACEVEDO_LIVER_CANCER_UP, GOBP_PROTEIN_CATABOLIC_PROCESS

GO Biological Process (2): response to unfolded protein (GO:0006986), ERAD pathway (GO:0036503)

GO Molecular Function (2): ubiquitin protein ligase binding (GO:0031625), protein binding (GO:0005515)

GO Cellular Component (3): endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
response to topologically incorrect protein	1
proteasomal protein catabolic process	1
response to endoplasmic reticulum stress	1
response to chemical	1
ubiquitin-like protein ligase binding	1
binding	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

568 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
JKAMP	DUSP10	Q9Y6W6	868
JKAMP	RNF5	Q99942	717
JKAMP	CCDC175	P0C221	643
JKAMP	L3HYPDH	Q96EM0	570
JKAMP	MAPK8	P45983	495
JKAMP	RTN1	Q16799	439
JKAMP	LAMTOR2	Q9Y2Q5	421
JKAMP	AP3S1	Q92572	407
JKAMP	SNX24	Q9Y343	377
JKAMP	ZNF286A	Q9HBT8	376
JKAMP	EOLA1	Q8TE69	375
JKAMP	PDE1A	P54750	369
JKAMP	DIPK1C	Q0P6D2	363
JKAMP	ASCC1	Q8N9N2	358
JKAMP	PDE1C	Q14123	350

IntAct

4 interactions, top by confidence:

A	B	Type	Score
JKAMP	MYH9	psi-mi:“MI:0915”(physical association)	0.400
JKAMP	AGTR1	psi-mi:“MI:0915”(physical association)	0.370
JKAMP	GPR37	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (19): YIPF6 (Two-hybrid), JKAMP (Proximity Label-MS), JKAMP (Two-hybrid), JKAMP (Two-hybrid), JKAMP (Reconstituted Complex), JKAMP (Affinity Capture-RNA), RNF5 (Affinity Capture-Western), PSMC3 (Affinity Capture-Western), PSMC6 (Affinity Capture-Western), PSMD2 (Affinity Capture-Western), JKAMP (Biochemical Activity), JKAMP (Affinity Capture-Western), MAPK8 (Affinity Capture-Western), JKAMP (Affinity Capture-Western), JKAMP (Reconstituted Complex)

ESM2 similar proteins: A0A067DFU5, A0A067E3D8, A0A1E1FFM9, A0A1Y0BRF5, A0A9Y1LNE1, A0A9Y1LQX3, A2AJQ3, A2ARJ3, A9RA88, B6HV37, B6JWP7, F4HW17, O48962, O59802, O64761, O74870, O94673, P0DXH1, P25338, P38312, P47111, P70245, Q06537, Q0V982, Q10255, Q12155, Q28GF5, Q3TUD9, Q4V7N7, Q54VP1, Q55E32, Q5F3W2, Q5F410, Q5R687, Q5R8N9, Q5U3Y7, Q60490, Q641M3, Q66HF2, Q6DCP8

Diamond homologs: G5EBX4, Q8BI36, Q9P055

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
RNF5	“down-regulates activity”	JKAMP	ubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	4
Uncertain significance	31
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
4072204	NM_016475.5(JKAMP):c.640+1G>T	Likely pathogenic
4082083	NM_016475.5(JKAMP):c.458+1G>C	Likely pathogenic
4813081	NM_016475.5(JKAMP):c.56T>G (p.Leu19Ter)	Likely pathogenic
4813082	NM_016475.5(JKAMP):c.139C>T (p.Gln47Ter)	Likely pathogenic

SpliceAI

1327 predictions. Top by Δscore:

Variant	Effect	Δscore
14:59484592:GG:G	donor_gain	1.0000
14:59484593:GG:G	donor_gain	1.0000
14:59484594:G:GG	donor_gain	1.0000
14:59484594:G:T	donor_loss	1.0000
14:59484595:T:G	donor_loss	1.0000
14:59486670:A:AG	acceptor_gain	1.0000
14:59486707:A:AG	acceptor_gain	1.0000
14:59486708:A:G	acceptor_gain	1.0000
14:59486712:GCT:G	acceptor_gain	1.0000
14:59495016:A:AG	acceptor_gain	1.0000
14:59495017:G:GA	acceptor_gain	1.0000
14:59495017:GT:G	acceptor_gain	1.0000
14:59495017:GTT:G	acceptor_gain	1.0000
14:59495017:GTTC:G	acceptor_gain	1.0000
14:59495017:GTTCC:G	acceptor_gain	1.0000
14:59495220:CCACT:C	donor_gain	1.0000
14:59495221:CACT:C	donor_gain	1.0000
14:59495222:ACT:A	donor_gain	1.0000
14:59495222:ACTGT:A	donor_loss	1.0000
14:59495223:CT:C	donor_gain	1.0000
14:59495223:CTG:C	donor_loss	1.0000
14:59495224:TG:T	donor_loss	1.0000
14:59495225:G:GA	donor_loss	1.0000
14:59495225:G:GG	donor_gain	1.0000
14:59495226:TAAG:T	donor_loss	1.0000
14:59498617:G:GG	donor_gain	1.0000
14:59503840:A:AG	acceptor_gain	1.0000
14:59503842:A:AG	acceptor_gain	1.0000
14:59503843:A:G	acceptor_gain	1.0000
14:59484591:TGG:T	donor_gain	0.9900

AlphaMissense

2001 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:59495148:T:A	W128R	0.999
14:59495148:T:C	W128R	0.999
14:59495150:G:C	W128C	0.999
14:59495150:G:T	W128C	0.999
14:59495199:T:A	C145S	0.999
14:59495199:T:C	C145R	0.999
14:59495200:G:A	C145Y	0.999
14:59495200:G:C	C145S	0.999
14:59495201:T:G	C145W	0.999
14:59503908:T:A	W258R	0.999
14:59503908:T:C	W258R	0.999
14:59503926:G:A	G264R	0.999
14:59503926:G:C	G264R	0.999
14:59503927:G:A	G264E	0.999
14:59486748:T:A	C14S	0.998
14:59486749:G:A	C14Y	0.998
14:59486749:G:C	C14S	0.998
14:59486750:T:G	C14W	0.998
14:59486751:G:T	G15W	0.998
14:59487677:T:A	C34S	0.998
14:59487677:T:C	C34R	0.998
14:59487678:G:A	C34Y	0.998
14:59487678:G:C	C34S	0.998
14:59487679:C:G	C34W	0.998
14:59487713:T:A	C46S	0.998
14:59487714:G:C	C46S	0.998
14:59487715:T:G	C46W	0.998
14:59487724:C:G	C49W	0.998
14:59487761:G:A	G62R	0.998
14:59487761:G:C	G62R	0.998

dbSNP variants (sampled 300 via entrez): RS1000137923 (14:59496126 G>T), RS1000288459 (14:59484237 G>A), RS1000309126 (14:59486240 C>G,T), RS1000364153 (14:59499818 C>G), RS1000515146 (14:59503947 G>A), RS1000726968 (14:59484697 G>A,C,T), RS1000779507 (14:59484838 A>C), RS1000915779 (14:59487618 G>C,T), RS1001177417 (14:59504937 T>C), RS1001246568 (14:59503262 C>T), RS1001341783 (14:59488002 A>G), RS1001551258 (14:59493258 G>A,T), RS1002015066 (14:59499285 A>C), RS1002058505 (14:59491678 G>T), RS1002167206 (14:59482762 T>C)

Disease associations

OMIM: gene MIM:611176 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010703_89	Brain morphology (MOSTest)	1.000000e-76

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004346	neuroimaging measurement

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
trichostatin A	affects cotreatment, decreases expression	2
sodium arsenite	increases expression, decreases expression, affects cotreatment, increases abundance	2
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
arsenite	affects binding, increases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
ochratoxin A	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
abrine	decreases expression	1
dorsomorphin	decreases expression, affects cotreatment	1
jinfukang	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Benzo(a)pyrene	increases expression	1
Doxorubicin	increases expression	1
Formaldehyde	decreases expression	1
Lipopolysaccharides	affects expression, affects response to substance	1
Manganese	affects cotreatment, increases abundance, increases expression	1
Methyl Methanesulfonate	decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Rotenone	increases expression	1
Tretinoin	increases expression	1
Valproic Acid	increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Cyclosporine	decreases expression	1
Aflatoxin B1	decreases methylation	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1V0	Abcam HeLa JKAMP KO	Cancer cell line	Female

Clinical trials (associated diseases)

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