TRPM3

Protein identityUniProt · HPA

UniProt accession

Q9HCF6

Gene

TRPM3

Ensembl

ENSG00000083067

Chromosome

9

Canonical length

1732 aa

Protein class

Predicted intracellular proteins, Predicted membrane proteins, Transporters, Voltage-gated ion channels

Subcellular location

Vesicles

Quaternary structure

Homotetramer

OverviewNCBI Gene

The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The protein encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1732 residues, UniProt reviewed canonical sequence.

>Q9HCF6|TRPM3
     1  MPEPWGTVYF LGIAQVFSFL FSWWNLEGVM NQADAPRPLN WTIRKLCHAA FLPSVRLLKA
    61  QKSWIERAFY KRECVHIIPS TKDPHRCCCG RLIGQHVGLT PSISVLQNEK NESRLSRNDI
   121  QSEKWSISKH TQLSPTDAFG TIEFQGGGHS NKAMYVRVSF DTKPDLLLHL MTKEWQLELP
   181  KLLISVHGGL QNFELQPKLK QVFGKGLIKA AMTTGAWIFT GGVNTGVIRH VGDALKDHAS
   241  KSRGKICTIG IAPWGIVENQ EDLIGRDVVR PYQTMSNPMS KLTVLNSMHS HFILADNGTT
   301  GKYGAEVKLR RQLEKHISLQ KINTRCLPFF SLDSRLFYSF WGSCQLDSVG IGQGVPVVAL
   361  IVEGGPNVIS IVLEYLRDTP PVPVVVCDGS GRASDILAFG HKYSEEGGLI NESLRDQLLV
   421  TIQKTFTYTR TQAQHLFIIL MECMKKKELI TVFRMGSEGH QDIDLAILTA LLKGANASAP
   481  DQLSLALAWN RVDIARSQIF IYGQQWPVGS LEQAMLDALV LDRVDFVKLL IENGVSMHRF
   541  LTISRLEELY NTRHGPSNTL YHLVRDVKKG NLPPDYRISL IDIGLVIEYL MGGAYRCNYT
   601  RKRFRTLYHN LFGPKRPKAL KLLGMEDDIP LRRGRKTTKK REEEVDIDLD DPEINHFPFP
   661  FHELMVWAVL MKRQKMALFF WQHGEEAMAK ALVACKLCKA MAHEASENDM VDDISQELNH
   721  NSRDFGQLAV ELLDQSYKQD EQLAMKLLTY ELKNWSNATC LQLAVAAKHR DFIAHTCSQM
   781  LLTDMWMGRL RMRKNSGLKV ILGILLPPSI LSLEFKNKDD MPYMSQAQEI HLQEKEAEEP
   841  EKPTKEKEEE DMELTAMLGR NNGESSRKKD EEEVQSKHRL IPLGRKIYEF YNAPIVKFWF
   901  YTLAYIGYLM LFNYIVLVKM ERWPSTQEWI VISYIFTLGI EKMREILMSE PGKLLQKVKV
   961  WLQEYWNVTD LIAILLFSVG MILRLQDQPF RSDGRVIYCV NIIYWYIRLL DIFGVNKYLG
  1021  PYVMMIGKMM IDMMYFVIIM LVVLMSFGVA RQAILFPNEE PSWKLAKNIF YMPYWMIYGE
  1081  VFADQIDPPC GQNETREDGK IIQLPPCKTG AWIVPAIMAC YLLVANILLV NLLIAVFNNT
  1141  FFEVKSISNQ VWKFQRYQLI MTFHERPVLP PPLIIFSHMT MIFQHLCCRW RKHESDPDER
  1201  DYGLKLFITD DELKKVHDFE EQCIEEYFRE KDDRFNSSND ERIRVTSERV ENMSMRLEEV
  1261  NEREHSMKAS LQTVDIRLAQ LEDLIGRMAT ALERLTGLER AESNKIRSRT SSDCTDAAYI
  1321  VRQSSFNSQE GNTFKLQESI DPAGEETMSP TSPTLMPRMR SHSFYSVNMK DKGGIEKLES
  1381  IFKERSLSLH RATSSHSVAK EPKAPAAPAN TLAIVPDSRR PSSCIDIYVS AMDELHCDID
  1441  PLDNSVNILG LGEPSFSTPV PSTAPSSSAY ATLAPTDRPP SRSIDFEDIT SMDTRSFSSD
  1501  YTHLPECQNP WDSEPPMYHT IERSKSSRYL ATTPFLLEEA PIVKSHSFMF SPSRSYYANF
  1561  GVPVKTAEYT SITDCIDTRC VNAPQAIADR AAFPGGLGDK VEDLTCCHPE REAELSHPSS
  1621  DSEENEAKGR RATIAISSQE GDNSERTLSN NITVPKIERA NSYSAEEPSA PYAHTRKSFS
  1681  ISDKLDRQRN TASLRNPFQR SKSSKPEGRG DSLSMRRLSR TSAFQSFESK HN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TRPM3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

6

Mean surface accessibility (rSASA)

0.43

Highest tissue expression

658 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TRPM3.

Disease | AllUniProt

Conditions TRPM3 is implicated in, by any mechanism.

• Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures (NEDFSS) MIM:620224
• Cataract 50 with or without glaucoma (CTRCT50) MIM:620253

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 451 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures
• Global developmental delay
• Seizure
• Mulibrey nanism syndrome
• Intellectual disability

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.45

gnomAD pLI

0

gnomAD missense Z

3.18

DepMap mean gene effect

0.07

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• calcium ion transmembrane transport
• calcium ion transport
• monoatomic cation transmembrane transport
• monoatomic cation transport
• protein homotetramerization
• zinc ion transmembrane transport

Molecular functions

• calcium channel activity
• calmodulin binding
• G-protein beta/gamma-subunit complex binding
• monoatomic cation channel activity
• phosphatidylinositol-4,5-bisphosphate binding

Cellular components

• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Ion transport domain
• TRPM, tetramerisation domain
• TRPM, tetramerisation domain superfamily
• TRPM, SLOG domain
• Transient receptor potential cation channel M
• TRPM-like domain
• Ion transport protein
• Tetramerisation domain of TRPM
• SLOG in TRPM
• TRPM2-like domain

KeywordsUniProt

• Calcium
• Calcium channel
• Calcium transport
• Calmodulin-binding
• Cataract
• Cell membrane
• Coiled coil
• Epilepsy
• Intellectual disability
• Ion channel
• Ion transport
• Membrane
• Transmembrane
• Transmembrane helix
• Transport

InteractionsUniProt · HPA

Protein binding partners of TRPM3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• TRPM1